| Name |
|---|
PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
FIGF Genec-fos induced growth factor (vascular endothelial growth factor D) The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011] |
IGF2R Geneinsulin-like growth factor 2 receptor This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015] |
OGFR Geneopioid growth factor receptor The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008] |
MYDGF Genemyeloid-derived growth factor The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008] |
TDGF1 Geneteratocarcinoma-derived growth factor 1 This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] |
GHITM Genegrowth hormone inducible transmembrane protein Enables calcium:proton antiporter activity. Involved in calcium export from the mitochondrion; inner mitochondrial membrane organization; and negative regulation of release of cytochrome c from mitochondria. Located in endoplasmic reticulum membrane and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025] |
VGF GeneVGF nerve growth factor inducible This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008] |
GAS2L1 Genegrowth arrest-specific 2 like 1 This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end of mature centrioles and links centrosomes to both microtubules and actin. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, May 2018] |
GAS2L3 Genegrowth arrest-specific 2 like 3 Enables actin binding activity and microtubule binding activity. Involved in actin cytoskeleton organization and microtubule cytoskeleton organization. Located in actin cytoskeleton and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025] |
GAS2L2 Genegrowth arrest-specific 2 like 2 The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011] |
NGFRAP1 Genenerve growth factor receptor (TNFRSF16) associated protein 1 Enables identical protein binding activity. Predicted to be involved in negative regulation of protein ubiquitination and signal transduction. Predicted to act upstream of or within extrinsic apoptotic signaling pathway via death domain receptors. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
PDGFC Geneplatelet derived growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] |
FGF1 Genefibroblast growth factor 1 (acidic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009] |
GADD45A Genegrowth arrest and DNA-damage-inducible, alpha This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010] |
GADD45B Genegrowth arrest and DNA-damage-inducible, beta This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008] |
GADD45G Genegrowth arrest and DNA-damage-inducible, gamma This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008] |
LOC100113421 Genefibroblast growth factor 7 pseudogene |
HDGF Genehepatoma-derived growth factor This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016] |
IGF2 Geneinsulin-like growth factor 2 This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] |
IGF1 Geneinsulin-like growth factor 1 (somatomedin C) The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015] |
EGR2 Geneearly growth response 2 The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
EGR3 Geneearly growth response 3 This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] |
EGR1 Geneearly growth response 1 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014] |
EGR4 Geneearly growth response 4 Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025] |
TGFB1I1 Genetransforming growth factor beta 1 induced transcript 1 This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
GFER Genegrowth factor, augmenter of liver regeneration The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008] |
GDF5OS Genegrowth differentiation factor 5 opposite strand Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
NEGR1 Geneneuronal growth regulator 1 Predicted to be involved in cell adhesion and regulation of synapse assembly. Predicted to act upstream of or within several processes, including cholesterol homeostasis; lipid droplet formation; and nervous system development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025] |
EPS15L1 Geneepidermal growth factor receptor pathway substrate 15-like 1 Enables cadherin binding activity. Predicted to be involved in endosomal transport and synaptic vesicle endocytosis. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGFALS Geneinsulin-like growth factor binding protein, acid labile subunit The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
HDGFL1 Genehepatoma derived growth factor-like 1 Predicted to be involved in chromatin remodeling. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
NODAL Genenodal growth differentiation factor This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016] |
FGFR3P5 Genefibroblast growth factor receptor 3 pseudogene 5 |
GRB10 Genegrowth factor receptor-bound protein 10 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] |
GRB14 Genegrowth factor receptor-bound protein 14 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
GRTP1 Genegrowth hormone regulated TBC protein 1 Predicted to enable GTPase activator activity. [provided by Alliance of Genome Resources, Mar 2025] |
TGFA Genetransforming growth factor, alpha This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] |
IGFBP2 Geneinsulin-like growth factor binding protein 2, 36kDa The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015] |
IGFBP3 Geneinsulin-like growth factor binding protein 3 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
IGFBP1 Geneinsulin-like growth factor binding protein 1 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP N-terminal domain and a thyroglobulin type-I domain. The encoded protein, mainly expressed in the liver, circulates in the plasma and binds both insulin-like growth factors (IGFs) I and II, prolonging their half-lives and altering their interaction with cell surface receptors. This protein is important in cell migration and metabolism. Low levels of this protein may be associated with impaired glucose tolerance, vascular disease and hypertension in human patients. [provided by RefSeq, Aug 2017] |
IGFBP7 Geneinsulin-like growth factor binding protein 7 This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011] |
IGFBP4 Geneinsulin-like growth factor binding protein 4 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008] |
IGFBP5 Geneinsulin-like growth factor binding protein 5 Enables insulin-like growth factor I binding activity and receptor ligand activity. Involved in several processes, including cellular response to cAMP; regulation of smooth muscle cell migration; and regulation of smooth muscle cell proliferation. Part of insulin-like growth factor ternary complex. Biomarker of pulmonary fibrosis. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105369252 Genehepatocyte growth factor-like protein |
OGFRL1 Geneopioid growth factor receptor-like 1 Predicted to enable opioid growth factor receptor activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
GFI1B Genegrowth factor independent 1B transcription repressor This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] |
CGRRF1 Genecell growth regulator with ring finger domain 1 Predicted to enable metal ion binding activity. Predicted to be involved in negative regulation of cell growth. Located in endoplasmic reticulum and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100420339 Geneopioid growth factor receptor pseudogene |
NGF Genenerve growth factor (beta polypeptide) This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008] |
LOC728433 Genefibroblast growth factor 7 pseudogene |
KGFLP1 Genefibroblast growth factor 7 pseudogene |
NGFG GeneNerve growth factor, gamma subunit |
NGFR Genenerve growth factor receptor Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008] |
MST1P2 Genemacrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 |
FRS3 Genefibroblast growth factor receptor substrate 3 This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013] |
FRS2 Genefibroblast growth factor receptor substrate 2 Enables fibroblast growth factor receptor binding activity and neurotrophin TRKA receptor binding activity. Involved in negative regulation of cardiac muscle cell differentiation. Acts upstream of or within fibroblast growth factor receptor signaling pathway. Located in adherens junction. Biomarker of renal cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
PDGFRB Geneplatelet-derived growth factor receptor, beta polypeptide The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017] |
PDGFRA Geneplatelet-derived growth factor receptor, alpha polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] |
PDGFRL Geneplatelet-derived growth factor receptor-like This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] |
GREB1L Genegrowth regulation by estrogen in breast cancer-like Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Mar 2025] |
GHR Genegrowth hormone receptor This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] |
GH1 Genegrowth hormone 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008] |
GH2 Genegrowth hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008] |
FGF19 Genefibroblast growth factor 19 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008] |
FGF18 Genefibroblast growth factor 18 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008] |
FGF13 Genefibroblast growth factor 13 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008] |
FGF12 Genefibroblast growth factor 12 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019] |
FGF11 Genefibroblast growth factor 11 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] |
FGF10 Genefibroblast growth factor 10 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008] |
FGF17 Genefibroblast growth factor 17 This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] |
FGF16 Genefibroblast growth factor 16 This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014] |
FGF14 Genefibroblast growth factor 14 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] |
GAS2L1P1 Genegrowth arrest-specific 2 like 1 pseudogene 1 |
PDGFA Geneplatelet-derived growth factor alpha polypeptide This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
PDGFB Geneplatelet-derived growth factor beta polypeptide This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
PDGFD Geneplatelet derived growth factor D The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] |
NAMA Genenon-protein coding RNA, associated with MAP kinase pathway and growth arrest |
LOC100421483 Genetransforming growth factor, beta receptor 1 pseudogene |
EPS15 Geneepidermal growth factor receptor pathway substrate 15 This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009] |
IGF2BP1 Geneinsulin-like growth factor 2 mRNA binding protein 1 This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
IGF2BP2 Geneinsulin-like growth factor 2 mRNA binding protein 2 This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016] |
GHRH Genegrowth hormone releasing hormone This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] |
AGMX2 Geneagammaglobulinemia, X-linked 2 (with growth hormone deficiency) |
LOC100421364 Genefibroblast growth factor binding protein 1 pseudogene |
FGF9 Genefibroblast growth factor 9 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008] |
FGF8 Genefibroblast growth factor 8 (androgen-induced) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008] |
FGF7 Genefibroblast growth factor 7 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008] |
FGF6 Genefibroblast growth factor 6 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008] |
FGF5 Genefibroblast growth factor 5 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
FGF4 Genefibroblast growth factor 4 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008] |
FGF3 Genefibroblast growth factor 3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008] |
FGF2 Genefibroblast growth factor 2 (basic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008] |
GADD45GIP1 Genegrowth arrest and DNA-damage-inducible, gamma interacting protein 1 This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012] |
VEGFA Genevascular endothelial growth factor A This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020] |
VEGFC Genevascular endothelial growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014] |
VEGFB Genevascular endothelial growth factor B This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011] |
HBEGF Geneheparin-binding EGF-like growth factor Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Mar 2025] |
GAP43 Genegrowth associated protein 43 The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
LOC346296 Geneinsulin-like growth factor 2 mRNA binding protein 3 pseudogene |
IGFBP6 Geneinsulin-like growth factor binding protein 6 Enables identical protein binding activity and insulin-like growth factor II binding activity. Involved in cell migration and positive regulation of stress-activated MAPK cascade. Part of insulin-like growth factor binary complex. Implicated in obesity. Biomarker of breast cancer; in situ carcinoma; leiomyoma; and neovascular inflammatory vitreoretinopathy. [provided by Alliance of Genome Resources, Mar 2025] |
GADD45AP1 Genegrowth arrest and DNA-damage-inducible, alpha pseudogene 1 |
TGFBR2 Genetransforming growth factor, beta receptor II (70/80kDa) The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017] |
TGFBR1 Genetransforming growth factor, beta receptor 1 The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
IGF2BP3 Geneinsulin-like growth factor 2 mRNA binding protein 3 The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008] |
TGFBRAP1 Genetransforming growth factor, beta receptor associated protein 1 This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016] |
EPS8 Geneepidermal growth factor receptor pathway substrate 8 This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] |
FGFR4 Genefibroblast growth factor receptor 4 The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017] |
FGFR2 Genefibroblast growth factor receptor 2 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] |
FGFR3 Genefibroblast growth factor receptor 3 This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017] |
FGFR1 Genefibroblast growth factor receptor 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] |
CXCL1 Genechemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014] |
FGF7P2 Genefibroblast growth factor 7 pseudogene 2 |
FGF7P1 Genefibroblast growth factor 7 pseudogene 1 |
GFI1 Genegrowth factor independent 1 transcription repressor This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] |
TGFB1 Genetransforming growth factor, beta 1 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016] |
TGFB2 Genetransforming growth factor, beta 2 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016] |
TGFB3 Genetransforming growth factor, beta 3 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016] |
TGFBI Genetransforming growth factor, beta-induced, 68kDa This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008] |
LOC727884 Geneinsulin-like growth factor 2 mRNA binding protein 2 pseudogene |
LOC653453 Genefibroblast growth factor 7 pseudogene |
LOC105373985 Genemultiple epidermal growth factor-like domains protein 6 |
TBRG1 Genetransforming growth factor beta regulator 1 Involved in several processes, including DNA replication; protein localization to nucleoplasm; and protein stabilization. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
TBRG4 Genetransforming growth factor beta regulator 4 Enables RNA binding activity. Involved in mitochondrial mRNA processing and regulation of mitochondrial mRNA stability. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025] |
USMG5 Geneup-regulated during skeletal muscle growth 5 homolog (mouse) Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Mar 2025] |
CTGF Geneconnective tissue growth factor The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009] |
OSGIN2 Geneoxidative stress induced growth inhibitor family member 2 Predicted to enable growth factor activity. Predicted to be involved in negative regulation of cell growth. [provided by Alliance of Genome Resources, Mar 2025] |
OSGIN1 Geneoxidative stress induced growth inhibitor 1 This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011] |
HGS Genehepatocyte growth factor-regulated tyrosine kinase substrate The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010] |
HGF Genehepatocyte growth factor (hepapoietin A; scatter factor) This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015] |
HDGFP1 Genehepatoma-derived growth factor pseudogene 1 |
LOC102724562 Genehepatocyte growth factor-like protein |
FGFR3P6 Genefibroblast growth factor receptor 3 pseudogene 6 |
FGFR3P4 Genefibroblast growth factor receptor 3 pseudogene 4 |
FGFR3P3 Genefibroblast growth factor receptor 3 pseudogene 3 |
FGFR3P2 Genefibroblast growth factor receptor 3 pseudogene 2 |
FGFR3P1 Genefibroblast growth factor receptor 3 pseudogene 1 |
HAGLR GeneHOXD antisense growth-associated long non-coding RNA |
EGFR Geneepidermal growth factor receptor The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020] |
FGF22 Genefibroblast growth factor 22 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
FGF23 Genefibroblast growth factor 23 This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013] |
FGF20 Genefibroblast growth factor 20 The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009] |
FGF21 Genefibroblast growth factor 21 Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016] |
LOC645468 Geneinsulin-like growth factor 2 mRNA binding protein 3 pseudogene |
TGFBR3 Genetransforming growth factor, beta receptor III This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010] |
LOC105378979 Genegrowth/differentiation factor 3-like |
KGFLP2 Genekeratinocyte growth factor-like protein 2 |
IGFBPL1 Geneinsulin-like growth factor binding protein-like 1 Predicted to enable insulin-like growth factor binding activity. Involved in cellular response to tumor cell. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
LTBP4 Genelatent transforming growth factor beta binding protein 4 The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] |
LTBP3 Genelatent transforming growth factor beta binding protein 3 The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
LTBP2 Genelatent transforming growth factor beta binding protein 2 The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008] |
LTBP1 Genelatent transforming growth factor beta binding protein 1 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
FGFRL1 Genefibroblast growth factor receptor-like 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008] |
GHSR Genegrowth hormone secretagogue receptor This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010] |
EPS15P1 Geneepidermal growth factor receptor pathway substrate 15 pseudogene 1 |
GAS8 Genegrowth arrest-specific 8 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] |
GAS1 Genegrowth arrest-specific 1 Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] |
GAS2 Genegrowth arrest-specific 2 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017] |
GAS5 Genegrowth arrest-specific 5 (non-protein coding) This gene produces a spliced long non-coding RNA and is a member of the 5' terminal oligo-pyrimidine class of genes. It is a small nucleolar RNA host gene, containing multiple C/D box snoRNA genes in its introns. Part of the secondary RNA structure of the encoded transcript mimics glucocorticoid response element (GRE) which means it can bind to the DNA binding domain of the glucocorticoid receptor (nuclear receptor subfamily 3, group C, member 1). This action blocks the glucocorticoid receptor from being activated and thereby stops it from regulating the transcription of its target genes. This transcript is also thought to regulate the transcriptional activity of other receptors, such as androgen, progesterone and mineralocorticoid receptors, that can bind to its GRE mimic region. Multiple functions have been associated with this transcript, including cellular growth arrest and apoptosis. It has also been identified as a potential tumor suppressor, with its down-regulation associated with cancer in multiple different tissues. [provided by RefSeq, Mar 2015] |
GAS7 Genegrowth arrest-specific 7 Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008] |
GAS6 Genegrowth arrest-specific 6 This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014] |
LOC728195 Genefibroblast growth factor 7 pseudogene |
GRB2 Genegrowth factor receptor-bound protein 2 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
GRB7 Genegrowth factor receptor-bound protein 7 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] |
INGX Geneinhibitor of growth family, X-linked, pseudogene |
ING4 Geneinhibitor of growth family, member 4 This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008] |
ING5 Geneinhibitor of growth family, member 5 This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016] |
ING1 Geneinhibitor of growth family, member 1 This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
ING2 Geneinhibitor of growth family, member 2 This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
ING3 Geneinhibitor of growth family, member 3 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008] |
TGFBR3L Genetransforming growth factor, beta receptor III-like Predicted to enable glycosaminoglycan binding activity; transforming growth factor beta receptor activity; and type II transforming growth factor beta receptor binding activity. Predicted to contribute to transforming growth factor beta binding activity. Predicted to be involved in several processes, including epithelial to mesenchymal transition; regulation of transforming growth factor beta receptor signaling pathway; and transforming growth factor beta receptor signaling pathway. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
GAS2L1P2 Genegrowth arrest-specific 2 like 1 pseudogene 2 |
RERG GeneRAS-like, estrogen-regulated, growth inhibitor RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009] |
CGREF1 Genecell growth regulator with EF-hand domain 1 Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
GDF15 Genegrowth differentiation factor 15 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016] |
GDF11 Genegrowth differentiation factor 11 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016] |
GDF10 Genegrowth differentiation factor 10 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016] |
PGF Geneplacental growth factor Enables growth factor activity. Involved in positive regulation of cell population proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in several diseases, including brain ischemia; diabetic neuropathy; glioblastoma; myocardial infarction; and pancreatic endocrine carcinoma. Biomarker of several diseases, including artery disease (multiple); autoimmune disease of musculoskeletal system (multiple); epilepsy (multiple); limited scleroderma; and pancreatic endocrine carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
GHRHR Genegrowth hormone releasing hormone receptor This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010] |
GREB1 Genegrowth regulation by estrogen in breast cancer 1 This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
HDGFRP2 Genehepatoma-derived growth factor-related protein 2 This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
HDGFRP3 Genehepatoma-derived growth factor, related protein 3 Predicted to enable microtubule binding activity. Predicted to be involved in several processes, including microtubule polymerization; negative regulation of microtubule depolymerization; and neuron projection development. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
EGF Geneepidermal growth factor This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] |
LOC100421893 Geneinsulin-like growth factor 2 mRNA binding protein 2 pseudogene |
OGFRP1 Geneopioid growth factor receptor pseudogene 1 |
IGF1R Geneinsulin-like growth factor 1 receptor This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] |
TDGF1P7 Geneteratocarcinoma-derived growth factor 1 pseudogene 7 |
TDGF1P6 Geneteratocarcinoma-derived growth factor 1 pseudogene 6 |
TDGF1P5 Geneteratocarcinoma-derived growth factor 1 pseudogene 5 |
TDGF1P4 Geneteratocarcinoma-derived growth factor 1 pseudogene 4 |
TDGF1P3 Geneteratocarcinoma-derived growth factor 1 pseudogene 3 The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008] |
TDGF1P2 Geneteratocarcinoma-derived growth factor 1 pseudogene 2 |
TDGF1P1 Geneteratocarcinoma-derived growth factor 1 pseudogene 1 |
FGFBP3 Genefibroblast growth factor binding protein 3 Enables fibroblast growth factor binding activity and heparin binding activity. Acts upstream of or within positive regulation of fibroblast growth factor receptor signaling pathway and positive regulation of vascular permeability. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
FGFBP2 Genefibroblast growth factor binding protein 2 This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq, Jan 2025] |
FGFBP1 Genefibroblast growth factor binding protein 1 This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011] |
GDF9 Genegrowth differentiation factor 9 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016] |
GDF3 Genegrowth differentiation factor 3 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016] |
GDF2 Genegrowth differentiation factor 2 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016] |
GDF1 Genegrowth differentiation factor 1 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016] |
GDF7 Genegrowth differentiation factor 7 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016] |
GDF6 Genegrowth differentiation factor 6 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016] |
GDF5 Genegrowth differentiation factor 5 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] |
FIBP Genefibroblast growth factor (acidic) intracellular binding protein Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
MDK Genemidkine (neurite growth-promoting factor 2) This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] |
GCY Genegrowth control, Y chromosome influenced |
HR Genehair growth associated This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] |
UCMA Geneupper zone of growth plate and cartilage matrix associated This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015] |
VEGFD Genevascular endothelial growth factor D The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011] |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
mild postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the mild postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
postnatal growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the postnatal growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Growth Retardation, Pre- And Postnatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Growth Retardation, Pre- And Postnatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
postnatal growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the postnatal growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Postnatal growth retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Postnatal growth retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; hellp syndrome; intrauterine growth retardation; pregnancy complications, hematologic; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; hellp syndrome; intrauterine growth retardation; pregnancy complications, hematologic; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, spontaneous; abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, spontaneous; abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, spontaneous; activated protein c resistance; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, spontaneous; activated protein c resistance; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; hellp syndrome; intrauterine growth retardation; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; hellp syndrome; intrauterine growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; intrauterine growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
growth retardation with deafness and mental retardation due to igf1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
postnatal growth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postnatal growth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormal postnatal growth Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal postnatal growth phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal postnatal growth/weight/body size Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal postnatal growth/weight/body size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Postnatal Onset Growth Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Postnatal Onset Growth Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal postnatal growth/weight/body size Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal postnatal growth/weight/body size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal postnatal growth Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal postnatal growth phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset. |
postnatal female survival Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postnatal female survival in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
postnatal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term postnatal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
chemorepulsion involved in postnatal olfactory bulb interneuron migration Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chemorepulsion involved in postnatal olfactory bulb interneuron migration biological process from the curated GO Biological Process Annotations 2015 dataset. |
postnatal macrocephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the postnatal macrocephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
postnatal microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the postnatal microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
slow postnatal weight gain Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the slow postnatal weight gain phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
partial postnatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the partial postnatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal postnatal subventricular zone morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal postnatal subventricular zone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal timing of postnatal eyelid opening Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal timing of postnatal eyelid opening phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
postnatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the postnatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
complete postnatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the complete postnatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Postnatal Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Postnatal Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Postnatal Microcephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Postnatal Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Postnatal Macrocephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Postnatal Macrocephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Stature, Postnatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Stature, Postnatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
chemorepulsion involved in postnatal olfactory bulb interneuron migration Gene SetFrom GO Biological Process Annotations 2023 genes participating in the chemorepulsion involved in postnatal olfactory bulb interneuron migration biological process from the curated GO Biological Process Annotations 2023 dataset. |
postnatal olfactory bulb interneuron migration Gene SetFrom GO Biological Process Annotations 2023 genes participating in the postnatal olfactory bulb interneuron migration biological process from the curated GO Biological Process Annotations 2023 dataset. |
postnatal lethality, complete penetrance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the postnatal lethality, complete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
postnatal lethality, incomplete penetrance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the postnatal lethality, incomplete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal postnatal subventricular zone morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal postnatal subventricular zone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
postnatal lethality Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the postnatal lethality phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
slow postnatal weight gain Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the slow postnatal weight gain phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal timing of postnatal eyelid opening Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal timing of postnatal eyelid opening phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
chemorepulsion involved in postnatal olfactory bulb interneuron migration Gene SetFrom GO Biological Process Annotations 2025 genes participating in the chemorepulsion involved in postnatal olfactory bulb interneuron migration biological process from the curated GO Biological Process Annotations 2025 dataset. |
postnatal olfactory bulb interneuron migration Gene SetFrom GO Biological Process Annotations 2025 genes participating in the postnatal olfactory bulb interneuron migration biological process from the curated GO Biological Process Annotations 2025 dataset. |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fetal Growth Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fetal Growth Retardation from the curated CTD Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset. |
abruptio placentae; fetal growth retardation; pre-eclampsia; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal growth retardation; pre-eclampsia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; placental insufficiency; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; placental insufficiency; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal growth retardation; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intrauterine growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; periodontal diseases; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; periodontal diseases; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; hellp syndrome; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; hellp syndrome; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the mild intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Fetal Growth Retardation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fetal Growth Retardation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
prenatal growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the prenatal growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
fetal growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fetal growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
growth retardation of incisors Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the growth retardation of incisors phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
growth retardation of molars Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the growth retardation of molars phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
embryonic growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the embryonic growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
mental retardation, x-linked, with isolated growth hormone deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with isolated growth hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth retardation, developmental delay, coarse facies, and early death Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation, developmental delay, coarse facies, and early death phenotype from the curated OMIM Gene-Disease Associations dataset. |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Deficiency And Mental Retardation With Facial Dysmorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Deficiency And Mental Retardation With Facial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fetal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fetal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Moderate Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderate Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
embryonic growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the embryonic growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
fetal growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fetal growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
growth retardation of molars Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the growth retardation of molars phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
growth retardation of incisors Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the growth retardation of incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
prenatal growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the prenatal growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
embryonic growth retardation Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the embryonic growth retardation phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Intrauterine growth retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intrauterine growth retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
insulin-like growth factor-1; insulin-like growth factor-3 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin-like growth factor-1; insulin-like growth factor-3 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
growth plate cartilage chondrocyte growth Gene SetFrom GO Biological Process Annotations 2015 genes participating in the growth plate cartilage chondrocyte growth biological process from the curated GO Biological Process Annotations 2015 dataset. |
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Gene Setproteins participating in the Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) pathway from the Reactome Pathways dataset. |
growth plate cartilage chondrocyte growth Gene SetFrom GO Biological Process Annotations 2023 genes participating in the growth plate cartilage chondrocyte growth biological process from the curated GO Biological Process Annotations 2023 dataset. |
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Gene Setproteins participating in the Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) pathway from the Reactome Pathways 2024 dataset. |
growth plate cartilage chondrocyte growth Gene SetFrom GO Biological Process Annotations 2025 genes participating in the growth plate cartilage chondrocyte growth biological process from the curated GO Biological Process Annotations 2025 dataset. |
Growth delay due to insulin-like growth factor I resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
X-linked mental retardation 58 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 58 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 45 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, syndromic, Claes-Jensen type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, syndromic, Claes-Jensen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 63 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, turner type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, turner type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-Linked mental retardation 90 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-Linked mental retardation 90 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked syndromic 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked syndromic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 29 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndromic X-linked mental retardation 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndromic X-linked mental retardation 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, raymond type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, raymond type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, syndromic 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, syndromic 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ZNF711-Related X-linked Mental Retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ZNF711-Related X-linked Mental Retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, with or without seizures, ARX-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 39 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 38 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 34 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic 32 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic 32 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, wu type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, wu type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-Linked Mental Retardation 41 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-Linked Mental Retardation 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, Hedera type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, Hedera type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked syndromic mental retardation, Nascimento type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked syndromic mental retardation, Nascimento type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 47 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, nonspecific Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 40 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 41 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 42 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 43 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 44 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 45 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 46 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 93 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 93 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 96 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 96 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 98 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 98 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 99 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 99 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 72 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 72 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Siderius X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
Partington X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Partington X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Alopecia-Mental Retardation Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Alopecia-Mental Retardation Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 30 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 30 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 23 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 23 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 91 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 91 from the curated CTD Gene-Disease Associations dataset. |
Miles-Carpenter x-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miles-Carpenter x-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 95 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 95 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 9 from the curated CTD Gene-Disease Associations dataset. |
Hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoparathyroidism-retardation-dysmorphism syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 77 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 77 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 13 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 12 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 14 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 3 from the curated CTD Gene-Disease Associations dataset. |
Lubs X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lubs X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Fra12a Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Fra12a Type from the curated CTD Gene-Disease Associations dataset. |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Short Stature Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Short Stature from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 20 from the curated CTD Gene-Disease Associations dataset. |
Mental retardation X-linked syndromic 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation X-linked syndromic 7 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 4 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 17 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 17 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Jarid1c-Related from the curated CTD Gene-Disease Associations dataset. |
X-linked mental retardation Gustavson type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease X-linked mental retardation Gustavson type from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Female-Restricted, with Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Female-Restricted, with Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 81 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 81 from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked 14 from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset. |
Mental retardation-hypotonic facies syndrome, x-linked, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation-hypotonic facies syndrome, x-linked, 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic, Christianson Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Christianson Type from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 84 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 84 from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked, syndromic 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, syndromic 5 from the curated CTD Gene-Disease Associations dataset. |
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BRACHYDACTYLY-MENTAL RETARDATION SYNDROME from the curated CTD Gene-Disease Associations dataset. |
Birk-Barel Mental Retardation Dysmorphism Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED 21 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 21 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 78 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 78 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 73 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 73 from the curated CTD Gene-Disease Associations dataset. |
Abidi X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abidi X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 82 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 82 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED 96 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 96 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED 49 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 49 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Panhypopituitarism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Panhypopituitarism from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 52 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 52 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 53 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 53 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 58 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 58 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset. |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 63 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 63 from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Armfield X-Linked Mental Retardation Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Armfield X-Linked Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 42 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 42 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 93 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 93 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 94 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 94 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Cleft Palate, Isolated, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic, Turner Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Turner Type from the curated CTD Gene-Disease Associations dataset. |
Microcephaly with Mental Retardation and Digital Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 72 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 72 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 45 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 45 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 46 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 46 from the curated CTD Gene-Disease Associations dataset. |
Prieto X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prieto X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 10 from the curated CTD Gene-Disease Associations dataset. |
Martin-Probst Deafness-Mental Retardation Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 50 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 50 from the curated CTD Gene-Disease Associations dataset. |
Cubitus Valgus with Mental Retardation and Unusual Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Parkinsonism, early onset with mental retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism, early onset with mental retardation from the curated CTD Gene-Disease Associations dataset. |
non-specific x-linked mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease non-specific x-linked mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; rett syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; rett syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
language development disorders; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease language development disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; fragile x syndromes; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; fragile x syndromes; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; muscular dystrophy, duchenne Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
violent offenders with mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease violent offenders with mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leukomalacia, periventricular; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leukomalacia, periventricular; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
non-syndromic x-linked mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease non-syndromic x-linked mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy and mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy and mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain diseases; mental retardation, x-linked Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain diseases; mental retardation, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
learning disorders; memory disorders; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease learning disorders; memory disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation, x-linked Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation, x-linked; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation, x-linked; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; microcephaly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; microcephaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
retardation Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term retardation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Mental Retardation, X-Linked Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Retardation, X-Linked phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Retardation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Retardation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Nuclear fragile X mental retardation-interacting protein 1, conserved domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear fragile X mental retardation-interacting protein 1, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fragile X mental retardation protein family Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fragile X mental retardation protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
mental retardation, autosomal recessive, 9/26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 84 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 84 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 81 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 81 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 82 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 82 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 89 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 89 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation with language impairment and autistic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation with language impairment and autistic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
?rolandic epilepsy, mental retardation, and speech dyspraxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, snyder-robinson type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, snyder-robinson type phenotype from the curated OMIM Gene-Disease Associations dataset. |
skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 30/47 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 30/47 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked syndromic 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked syndromic 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation syndrome, x-linked, siderius type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation syndrome, x-linked, siderius type phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 40 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 44 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, fraxe type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, fraxe type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation syndrome, x-linked, armfield type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation syndrome, x-linked, armfield type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked, syndromic 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked, syndromic 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom OMIM Gene-Disease Associations genes associated with the psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated OMIM Gene-Disease Associations dataset. |
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Gene SetFrom OMIM Gene-Disease Associations genes associated with the corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset. |
alacrima, achalasia, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?arthrogryposis, mental retardation, and seizures Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?arthrogryposis, mental retardation, and seizures phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked, syndromic, hedera type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked, syndromic, hedera type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked 91 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked 91 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 90 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 90 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 98 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 98 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, shashi type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, shashi type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-hypotonic facies syndrome, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-hypotonic facies syndrome, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal dominant 22 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 78 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 78 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 72 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 72 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 52 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 52 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 53 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 53 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 50 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 50 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 58 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 58 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic, claes-jensen type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic, claes-jensen type phenotype from the curated OMIM Gene-Disease Associations dataset. |
waisman parkinsonism-mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the waisman parkinsonism-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, nascimento-type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, nascimento-type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 21/34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 21/34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
choroideremia, deafness, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the choroideremia, deafness, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 10/20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
?stocco dos santos x-linked mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?stocco dos santos x-linked mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
birk-barel mental retardation dysmorphism syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the birk-barel mental retardation dysmorphism syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 77 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 77 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 15 (cabezas type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 15 (cabezas type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
brachydactyly-mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the brachydactyly-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, with short stature Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with short stature phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 43 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic, chudley-schwartz type, Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic, chudley-schwartz type, phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 92 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 92 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 93 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 93 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 96 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 96 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 97 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 97 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 94 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 94 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 95 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 95 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 99 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 99 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 39 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 38 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 33 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 35 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
scaphocephaly, maxillary retrusion, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the scaphocephaly, maxillary retrusion, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, raymond type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, raymond type phenotype from the curated OMIM Gene-Disease Associations dataset. |
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
cubitus valgus with mental retardation and unusual facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the cubitus valgus with mental retardation and unusual facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, nonprogressive, with mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, nonprogressive, with mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, abidi type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, abidi type phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, with or without nystagmus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoparathyroidism-retardation-dysmorphism syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 41 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 63 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 63 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked 101 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked 101 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked 100 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked 100 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, turner type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, turner type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 49 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 49 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 41 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 41 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, lubs type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, lubs type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, focal, with speech disorder and with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal dominant 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal dominant 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 29 and others Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 29 and others phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, fra12a type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, fra12a type phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive, 37 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant, 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant, 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, christianson type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, christianson type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mild Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mandibulofacial Dysostosis With Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mandibulofacial Dysostosis With Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Profound Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partington X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partington X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Miles-Carpenter X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miles-Carpenter X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prieto X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prieto X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lubs X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lubs X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Siderius X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Siderius X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alacrima, Achalasia, And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Achalasia, And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorea, Childhood-Onset, With Psychomotor Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorea, Childhood-Onset, With Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Birk-Barel Mental Retardation Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Martin-Probst Deafness-Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypoparathyroidism-Retardation-Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Motor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Motor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intrauterine Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intrauterine Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mental Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Gene Setproteins participating in the Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) Gene Setproteins participating in the Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) pathway from the Reactome Pathways 2024 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alopecia-mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia-mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nonprogressive cerebellar ataxia with mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nonprogressive cerebellar ataxia with mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypoparathyroidism-retardation-dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar atrophy, visual impairment, and psychomotor retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar atrophy, visual impairment, and psychomotor retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alopecia-mental retardation syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia-mental retardation syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked mental retardation-hypotonic facies syndrome-1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked mental retardation-hypotonic facies syndrome-1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypoparathyroidism-retardation-dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Psychomotor retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Psychomotor retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
nerve growth factor pathway (ngf) Gene SetFrom Biocarta Pathways proteins participating in the nerve growth factor pathway (ngf) pathway from the Biocarta Pathways dataset. |
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene SetFrom Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset. |