| Name |
|---|
MHB Genemyopathy, hyaline body, autosomal recessive |
CFTDX GeneMyopathy, congenital, with fiber-type disproportion, X-linked |
WDM GeneWelander distal myopathy |
MPD3 GeneMyopathy, distal 3 |
BDLN1 Genebody length, human homolog of mouse body length 1 |
OS4 GeneOsteoarthritis, generalized, without dysplasia, susceptibility to |
TNFRSF10C Genetumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] |
CTEPH1 GenePulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to |
MGR3 GeneMigraine, familial, with or without aura, susceptibility to |
MGR5 GeneMigraine with or without aura, susceptibility to, 5 |
LILRA3 Geneleukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014] |
RIT2 GeneRas-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] |
RIT1 GeneRas-like without CAAX 1 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
HTGH GeneHypertrichosis terminalis, generalized, with or without gingival hyperplasia |
RPH3AL Generabphilin 3A-like (without C2 domains) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
MGR12 GeneMigraine, with or without aura, susceptibility to, 12 |
CHMP1B Genecharged multivesicular body protein 1B CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] |
CHMP3 Genecharged multivesicular body protein 3 This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010] |
CHMP7 Genecharged multivesicular body protein 7 Involved in several processes, including midbody abscission; mitotic nuclear division; and vacuolar transport. Located in chromatin; cytosol; and nucleus. Part of several cellular components, including bounding membrane of organelle; kinetochore microtubule; and midbody. [provided by Alliance of Genome Resources, Mar 2025] |
CHMP5 Genecharged multivesicular body protein 5 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] |
CHMP4A Genecharged multivesicular body protein 4A CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] |
CHMP4B Genecharged multivesicular body protein 4B This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009] |
CHMP4C Genecharged multivesicular body protein 4C CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] |
LOC100130209 Genecharged multivesicular body protein 4A pseudogene |
SP140L GeneSP140 nuclear body protein-like Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
BMIQ8 Genebody mass index quantitative trait locus 8 |
BMIQ6 Genebody mass index QTL 6 |
BMIQ5 Genebody mass index QTL 5 |
BMIQ2 Genebody mass index QTL 2 |
BMIQ3 Genebody mass index QTL 3 |
BMIQ1 Genebody mass index QTL 1 |
CHMP6 Genecharged multivesicular body protein 6 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] |
BW1 GeneBody weight QTL 1 |
BW2 GeneBody weight QTL 2 |
BW3 GeneBody weight QTL 3 |
BW4 GeneBody weight QTL 4 |
BW6 GeneBody weight QTL 6 |
BW7 GeneBody weight QTL 7 |
BW8 GeneBody weight QTL 8 |
BW9 GeneBody weight QTL 9 |
BW27 GeneBody weight QTL 27 |
BW26 GeneBody weight QTL 26 |
BW24 GeneBody weight QTL 24 |
BW23 GeneBody weight QTL 23 |
BW22 GeneBody weight QTL 22 |
BW20 GeneBody weight QTL 20 |
BW29 GeneBody weight QTL 29 |
BW28 GeneBody weight QTL 28 |
BMIQ14 GeneBody mass index QTL14 |
BMIQ15 GeneBody mass index QTL 15 |
BFD1 GeneBody fluid distribution QTL 1 |
BFD3 GeneBody fluid distribution QTL 3 |
BFD4 GeneBody fluid distribution QTL 4 |
BFD5 GeneBody fluid distribution QTL 5 |
CHMP1A Genecharged multivesicular body protein 1A This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |
BW56 GeneBody weight QTL 56 |
BW57 GeneBody weight QTL 57 |
BW54 GeneBody weight QTL 54 |
BW55 GeneBody weight QTL 55 |
BW52 GeneBody weight QTL 52 |
BW53 GeneBody weight QTL 53 |
BW58 GeneBody weight QTL 58 |
BW59 GeneBody weight QTL 59 |
CHMP2B Genecharged multivesicular body protein 2B This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008] |
CHMP2A Genecharged multivesicular body protein 2A CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] |
LOC100420338 Genecharged multivesicular body protein 5 pseudogene |
LBMQTL1 GeneLean body mass QTL 1 |
SCARNA27 Genesmall Cajal body-specific RNA 27 |
SCARNA22 Genesmall Cajal body-specific RNA 22 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA23 Genesmall Cajal body-specific RNA 23 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA20 Genesmall Cajal body-specific RNA 20 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA21 Genesmall Cajal body-specific RNA 21 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
CHMP4BP1 Genecharged multivesicular body protein 4B pseudogene 1 Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway and vesicle budding from membrane. Predicted to be located in several cellular components, including bounding membrane of organelle; kinetochore microtubule; and midbody. Predicted to be part of ESCRT III complex. Predicted to be active in cytoplasmic side of plasma membrane and multivesicular body. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA5 Genesmall Cajal body-specific RNA 5 Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA4 Genesmall Cajal body-specific RNA 4 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA2 Genesmall Cajal body-specific RNA 2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
BW15 GeneBody weight QTL 15 |
BW36 GeneBody weight QTL 36 |
BW37 GeneBody weight QTL 37 |
BW88 GeneBody weight QTL 88 |
VTA1P2 Genevesicle (multivesicular body) trafficking 1 pseudogene 2 |
NOLC1 Genenucleolar and coiled-body phosphoprotein 1 Enables molecular function inhibitor activity; protein heterodimerization activity; and protein-macromolecule adaptor activity. Involved in neural crest cell development; neural crest formation; and regulation of translation. Acts upstream of or within axonogenesis and regulation of synaptic plasticity. Located in fibrillar center. [provided by Alliance of Genome Resources, Mar 2025] |
BW35 GeneBody weight QTL 35 |
BW30 GeneBody weight QTL 30 |
BW33 GeneBody weight QTL 33 |
BW5 GeneBody weight QTL 5 |
BMIQ13 GeneBody mass index QTL13 |
LOC100420317 Genecharged multivesicular body protein 5 pseudogene |
BW25 GeneBody weight QTL 25 |
LOC392426 Genenucleolar and coiled-body phosphoprotein 1 pseudogene |
BW69 GeneBody weight QTL 69 |
BW68 GeneBody weight QTL 68 |
BW63 GeneBody weight QTL 63 |
BW62 GeneBody weight QTL 62 |
BW61 GeneBody weight QTL 61 |
BW60 GeneBody weight QTL 60 |
BW67 GeneBody weight QTL 67 |
BW66 GeneBody weight QTL 66 |
BW65 GeneBody weight QTL 65 |
BW64 GeneBody weight QTL 64 |
BW11 GeneBody weight QTL 11 |
SCARNA9L Genesmall Cajal body-specific RNA 9-like Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
BFD2 GeneBody fluid distribution QTL 2 |
SCARNA13 Genesmall Cajal body-specific RNA 13 Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA12 Genesmall Cajal body-specific RNA 12 This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010] |
SCARNA11 Genesmall Cajal body-specific RNA 11 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA10 Genesmall Cajal body-specific RNA 10 Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA17 Genesmall Cajal body-specific RNA 17 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA16 Genesmall Cajal body-specific RNA 16 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA15 Genesmall Cajal body-specific RNA 15 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA14 Genesmall Cajal body-specific RNA 14 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA18 Genesmall Cajal body-specific RNA 18 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] |
VTA1 Genevesicle (multivesicular body) trafficking 1 C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008] |
SCARNA9 Genesmall Cajal body-specific RNA 9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA8 Genesmall Cajal body-specific RNA 8 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA7 Genesmall Cajal body-specific RNA 7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA3 Genesmall Cajal body-specific RNA 3 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
SCARNA1 Genesmall Cajal body-specific RNA 1 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
BW12 GeneBody weight QTL 12 |
BW13 GeneBody weight QTL 13 |
BW10 GeneBody weight QTL 10 |
BW16 GeneBody weight QTL 16 |
BW17 GeneBody weight QTL 17 |
BW14 GeneBody weight QTL 14 |
BW18 GeneBody weight QTL 18 |
BW19 GeneBody weight QTL 19 |
CHMP1AP1 Genecharged multivesicular body protein 1A pseudogene 1 |
LOC100129367 Genenucleolar and coiled-body phosphoprotein 1 pseudogene |
CHMP1B2P Genecharged multivesicular body protein 1B2, pseudogene |
PARK3 GeneParkinson disease 3 (autosomal dominant, Lewy body) |
SP140 GeneSP140 nuclear body protein This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016] |
BW34 GeneBody weight QTL 34 |
BW31 GeneBody weight QTL 31 |
BW32 GeneBody weight QTL 32 |
SCARNA6 Genesmall Cajal body-specific RNA 6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
MVB12B Genemultivesicular body subunit 12B The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
MVB12A Genemultivesicular body subunit 12A Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway. Located in several cellular components, including centrosome; cytosol; and vesicle. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Mar 2025] |
SP110 GeneSP110 nuclear body protein The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008] |
BW70 GeneBody weight QTL 70 |
BW71 GeneBody weight QTL 71 |
BW72 GeneBody weight QTL 72 |
NBDY Genenegative regulator of P-body association Involved in negative regulation of cytoplasmic mRNA processing body assembly and nuclear-transcribed mRNA catabolic process. Located in P-body. [provided by Alliance of Genome Resources, Mar 2025] |
BBOF1 Genebasal body orientation factor 1 Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025] |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polyglucosan body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
polyglucosan body disease, adult form Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyglucosan body disease, adult form phenotype from the curated OMIM Gene-Disease Associations dataset. |
Adult Polyglucosan Body Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Polyglucosan Body Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Disease, Adult Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Disease, Adult Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult polyglucosan body neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Adult polyglucosan body neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Adult polyglucosan body disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Adult polyglucosan body disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
polyglucosan Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term polyglucosan in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 26 with or without neurologic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency without anhidrotic ectodermal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset. |
immunodeficiency 16, with or without neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 16, with or without neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease 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. |
acquired immunodeficiency syndrome; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; hiv infections; spondylarthropathies; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections; spondylarthropathies; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Inclusion body myopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy 2 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. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, childhood-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, Reducing Body, X-Linked, Childhood-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Childhood-Onset from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Hyaline Body, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, SPHEROID BODY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, SPHEROID BODY from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy 3, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Inclusion body myopathy autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive 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. |
myopathy, spheroid body Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, spheroid body phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, childhood-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy-3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy-3 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. |
Inclusion Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Zebra Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zebra Body Myopathy 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. |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing-Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing-Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inclusion Body Myopathy, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spheroid Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spheroid Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmin Related Myopathy With Mallory Body-Like Inclusions Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmin Related Myopathy With Mallory Body-Like Inclusions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hyaline body myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hyaline body myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion-body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion-body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyaline body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyaline body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy and brain white matter abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
body mass; diabetes, type 2; insulin; glucose; body fat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; diabetes, type 2; insulin; glucose; body fat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; body fat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; body fat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
decreased percent body fat/body weight Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased percent body fat/body weight phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased percent body fat/body weight Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased percent body fat/body weight phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal percent body fat/body weight Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal percent body fat/body weight phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bronchiectasis with or without elevated sweat chloride 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 7 with or without atrioventricular conduction defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy, cystic, without megalencephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy, cystic, without megalencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cognitive impairment with or without cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cognitive impairment with or without cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 19 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 17 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bronchiectasis with or without elevated sweat chloride 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, without vestibular involvement, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, without vestibular involvement, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Capillary malformation without arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Capillary malformation without arteriovenous malformation 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. |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrodysostosis 2, with or without hormone resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrodysostosis 2, with or without hormone resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 13 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 13 with or without anosmia 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. |
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. |
Hypogonadotropic hypogonadism 10 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult i Blood Group with or without Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult i Blood Group with or without Congenital Cataract 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. |
Hypogonadotropic hypogonadism 11 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
H2AX complex, isolated from cells without IR exposure Gene Setproteins in the H2AX complex, isolated from cells without IR exposure protein complex from the CORUM Protein Complexes dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy, Cystic, Without Megalencephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy, Cystic, Without Megalencephaly from the curated CTD Gene-Disease Associations dataset. |
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 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. |
Migraine without Aura Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Migraine without Aura from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 1 from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 2 from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 3 from the curated CTD Gene-Disease Associations dataset. |
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Dysplasia without Hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis 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. |
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 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. |
PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset. |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 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. |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA from the curated CTD Gene-Disease Associations dataset. |
Nonmedullary thyroid carcinoma, with or without cell oxyphilia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nonmedullary thyroid carcinoma, with or without cell oxyphilia from the curated CTD Gene-Disease Associations dataset. |
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia from the curated CTD Gene-Disease Associations dataset. |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Migraine without Aura in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
migraine without aura Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cleft lip with cleft palate; cleft lip without cleft palate; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
salmeterol with or without fluticasone propionate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease salmeterol with or without fluticasone propionate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine disorders; migraine with aura; migraine without aura; tension-type headache Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine disorders; migraine with aura; migraine without aura; tension-type headache in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with or without cleft palate; cleft palate, isolated Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with or without cleft palate; cleft palate, isolated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with cleft palate; cleft lip without cleft palate; cleft lip Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft lip in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine with aura; migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nonsyndromic cleft lipor without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nonsyndromic cleft lipor without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine with and without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine with and without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip without cleft palate; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine disorders; migraine with aura; migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine disorders; migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nonsyndromic cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nonsyndromic cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
without Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term without in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
Migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
migraine without aura Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
migraine without aura Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the migraine without aura phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
focal seizures without impairment of consciousness or awareness Gene SetFrom HPO Gene-Disease Associations genes associated with the focal seizures without impairment of consciousness or awareness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
migraine without aura Gene SetFrom HPO Gene-Disease Associations genes associated with the migraine without aura phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Migraine without Aura phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epilepsy, progressive myoclonic 3, with or without intracellular inclusions Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 3, with or without intracellular inclusions 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. |
{hypogonadotropic hypogonadism 15 with or without anosmia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypogonadotropic hypogonadism 15 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
brain small vessel disease with or without ocular anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the brain small vessel disease with or without ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
paragangliomas 1, with or without deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the paragangliomas 1, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 4 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
central hypoventilation syndrome, congenital, with or without hirschsprung disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the central hypoventilation syndrome, congenital, with or without hirschsprung disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 14 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 14 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2e, with or without neurologic involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2e, with or without neurologic involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
cognitive impairment with or without cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cognitive impairment with or without cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 10 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 3 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 3 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine without aura, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine without aura, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 8 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 8 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukemia, megakaryoblastic, with or without down syndrome, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukemia, megakaryoblastic, with or without down syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
antley-bixler syndrome without genital anomalies or disordered steroidogenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the antley-bixler syndrome without genital anomalies or disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 5 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 5 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microtia with or without hearing impairment (ad) Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microtia with or without hearing impairment (ad) phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 11 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 11 with or without anosmia 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. |
hypogonadotropic hypogonadism 18 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 18 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{bronchiectasis with or without elevated sweat chloride 1, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {bronchiectasis with or without elevated sweat chloride 1, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, with or without aura, susceptibility to, 12} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, with or without aura, susceptibility to, 12} phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
?testicular anomalies with or without congenital heart disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene SetFrom OMIM Gene-Disease Associations genes associated with the dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 2 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 2 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrodysostosis 1, with or without hormone resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrodysostosis 1, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 20 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 20 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypogonadotropic hypogonadism 13 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary hypertension, familial primary, 1, with or without hht Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary hypertension, familial primary, 1, with or without hht phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 1, with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 4 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 4 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dementia, frontotemporal, with or without parkinsonism Gene SetFrom OMIM Gene-Disease Associations genes associated with the dementia, frontotemporal, with or without parkinsonism phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 9 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 9 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine without aura, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine without aura, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 1, with or without congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
tooth agenesis, selective, 1, with or without orofacial cleft Gene SetFrom OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 1, with or without orofacial cleft phenotype from the curated OMIM Gene-Disease Associations dataset. |
{pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 6 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 6 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 9, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 9, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
cataract, pulverulent or cerulean, with or without microcornea Gene SetFrom OMIM Gene-Disease Associations genes associated with the cataract, pulverulent or cerulean, with or without microcornea phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, x-linked, with or without dyserythropoietic anemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, x-linked, with or without dyserythropoietic anemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
gastric cancer, familial diffuse, with or without cleft lip and/or palate Gene SetFrom OMIM Gene-Disease Associations genes associated with the gastric cancer, familial diffuse, with or without cleft lip and/or palate phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 7, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 7, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
gyrate atrophy of choroid and retina with or without ornithinemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gyrate atrophy of choroid and retina with or without ornithinemia 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. |
hypogonadotropic hypogonadism 19 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 19 with or without anosmia 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. |
{migraine with or without aura, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 5} 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. |
deafness, neurosensory, without vestibular involvement, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, neurosensory, without vestibular involvement, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
adult i phenotype without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the adult i phenotype without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy, cystic, without megalencephaly Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy, cystic, without megalencephaly phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
branchiootorenal syndrome 1, with or without cataracts Gene SetFrom OMIM Gene-Disease Associations genes associated with the branchiootorenal syndrome 1, with or without cataracts phenotype from the curated OMIM Gene-Disease Associations dataset. |
mcleod syndrome with or without chronic granulomatous disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the mcleod syndrome with or without chronic granulomatous disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 1, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 1, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, with or without aura, susceptibility to, 13} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, with or without aura, susceptibility to, 13} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypogonadotropic hypogonadism 16 with or without anosmia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypogonadotropic hypogonadism 16 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 7, with or without av conduction defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
bifid nose with or without anorectal and renal anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the bifid nose with or without anorectal and renal anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
androgen insensitivity, partial, with or without breast cancer Gene SetFrom OMIM Gene-Disease Associations genes associated with the androgen insensitivity, partial, with or without breast cancer phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 17 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 17 with or without anosmia 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. |
encephalopathy, progressive, with or without lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, progressive, with or without lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 2 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 2 with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypertrichosis terminalis, generalized, with or without gingival hyperplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertrichosis terminalis, generalized, with or without gingival hyperplasia 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. |
short-rib thoracic dysplasia 5 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine with or without aura, susceptibility to Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine with or without aura, susceptibility to phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 3, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 3, with or without situs inversus 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. |
acrodysostosis 2, with or without hormone resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrodysostosis 2, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperproinsulinemia, familial, with or without diabetes Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperproinsulinemia, familial, with or without diabetes phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 3, with or without dilated cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 3, with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 7 without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 7 without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
anterior segment anomalies with or without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the anterior segment anomalies with or without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, dopa-responsive, with or without hyperphenylalaninemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, with or without hyperphenylalaninemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
sweat chloride elevation without cf Gene SetFrom OMIM Gene-Disease Associations genes associated with the sweat chloride elevation without cf phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cardiac conduction disease with or without dilated cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cardiac conduction disease with or without dilated cardiomyopathy 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. |
amyotrophic lateral sclerosis 10, with or without ftd Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 10, with or without ftd phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated OMIM Gene-Disease Associations dataset. |
Progressive Cone Dystrophy (Without Rod Involvement) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone Dystrophy (Without Rod Involvement) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cleft Lip With Or Without Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Respiratory Failure Without Hypercapnia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Respiratory Failure Without Hypercapnia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dentinogenesis Imperfecta Without Osteogenesis Imperfecta in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyposis Of Gastric Fundus Without Polyposis Coli Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyposis Of Gastric Fundus Without Polyposis Coli in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Atresia With Or Without Tracheoesophageal Fistula Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Atresia With Or Without Tracheoesophageal Fistula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
2P21 Microdeletion Syndrome Without Cystinuria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 2P21 Microdeletion Syndrome Without Cystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chagas' Disease Without Mention Of Organ Involvement Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chagas' Disease Without Mention Of Organ Involvement in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dengue Without Warning Signs Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dengue Without Warning Signs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Acute Myeloid Leukemia Without Maturation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Acute Myeloid Leukemia Without Maturation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sweat Chloride Elevation Without Cystic Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sweat Chloride Elevation Without Cystic Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Cholecystitis Without Calculus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Cholecystitis Without Calculus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Segment Anomalies With Or Without Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anterior Segment Anomalies With Or Without Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vacterl Association, X-Linked, With Or Without Hydrocephalus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vacterl Association, X-Linked, With Or Without Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Panic Disorder Without Agoraphobia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Panic Disorder Without Agoraphobia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bpes Without Ovarian Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bpes Without Ovarian Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fetal Malnutrition Without Mention Of Light-For-Dates Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fetal Malnutrition Without Mention Of Light-For-Dates in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Testicular Anomalies With Or Without Congenital Heart Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Testicular Anomalies With Or Without Congenital Heart Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Narcolepsy Without Cataplexy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Narcolepsy Without Cataplexy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microtia With Or Without Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microtia With Or Without Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microtia Without Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microtia Without Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hypothyroidism Without Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypothyroidism Without Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duane Retraction Syndrome 3 With Or Without Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duane Retraction Syndrome 3 With Or Without Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Malformations With Or Without Urinary Tract Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Malformations With Or Without Urinary Tract Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Malformation Without Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation Without Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cognitive Impairment With Or Without Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cognitive Impairment With Or Without Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonsyndromic Cleft Lip With Or Without Cleft Palate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonsyndromic Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Genetic Hyperferritinemia Without Iron Overload Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Genetic Hyperferritinemia Without Iron Overload in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly 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. |
Hypogonadotropic hypogonadism 22 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 22 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 6 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 6 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 12 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Migraine without aura Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 2 with or without cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 2 with or without cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 15 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 15 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Acute myeloid leukemia without maturation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Acute myeloid leukemia without maturation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 4 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 4 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cleft palate with or without ankyloglossia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cleft palate with or without ankyloglossia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 23 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 23 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 2 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 2 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 14 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 14 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial progressive hyperpigmentation with or without hypopigmentation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial progressive hyperpigmentation with or without hypopigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 18 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 18 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 3 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 3 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 5 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 5 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 7 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 7 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 13 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 16 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 16 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 24 without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 24 without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Antley-Bixler syndrome without disordered steroidogenesis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Antley-Bixler syndrome without disordered steroidogenesis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Restless legs syndrome in migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Restless legs syndrome in migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acute anterior uveitis (with or without ankylosing spondylitis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acute anterior uveitis (with or without ankylosing spondylitis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pulmonary arterial hypertension (without BMPR2 mutations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pulmonary arterial hypertension (without BMPR2 mutations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bicuspid aortic valve without aortic dilation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bicuspid aortic valve without aortic dilation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Spontaneous preterm birth without premature rupture of membranes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Spontaneous preterm birth without premature rupture of membranes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bethlem myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy, ZASP-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, ZASP-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, 3, with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, myosin storage Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, myosin storage phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Minicore myopathy with external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Visceral myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Native American myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Native American myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nonaka myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, tubular aggregate, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, tubular aggregate, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy, filamin C-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with lactic acidosis, hereditary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with lactic acidosis, hereditary 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. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal myopathy Markesbery-Griggs type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary myopathy with early respiratory failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked myopathy with postural muscle atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked myopathy with postural muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutral lipid storage disease with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutral lipid storage disease with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked dominant scapuloperoneal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brody myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miyoshi myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with tubular aggregates Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOPATHY, CENTRONUCLEAR, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 2 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CENTRONUCLEAR, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 1 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Central Core Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset. |
Bethlem myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bethlem myopathy from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Distal, with Anterior Tibial Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset. |
Miyoshi myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miyoshi myopathy from the curated CTD Gene-Disease Associations dataset. |
Welander distal myopathy, Swedish type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 1 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 4 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 6 from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 6 from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 1 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 5 from the curated CTD Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy, X-Linked Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Myopathy, X-Linked, With Postural Muscle Atrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, With Postural Muscle Atrophy from the curated CTD Gene-Disease Associations dataset. |
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset. |
Neutral Lipid Storage Disease with Myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutral Lipid Storage Disease with Myopathy from the curated CTD Gene-Disease Associations dataset. |
Distal myopathy, Nonaka type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Hereditary Myopathy with Early Respiratory Failure Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset. |
Minicore Myopathy with External Ophthalmoplegia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Myopathy, X-Linked, with Excessive Autophagy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, with Excessive Autophagy from the curated CTD Gene-Disease Associations dataset. |
Myopathy with Lactic Acidosis, Hereditary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CENTRONUCLEAR, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Myosin Storage Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Myosin Storage from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 3 from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 4 from the curated CTD Gene-Disease Associations dataset. |
Nemaline Myopathy 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 2 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Early-Onset, with Fatal Cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Early-Onset, with Fatal Cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Brody myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Brody myopathy from the curated CTD Gene-Disease Associations dataset. |
Nemaline Myopathy 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 7 from the curated CTD Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease mitochondrial myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
brody myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease brody myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
bethlem myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease bethlem myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
nemaline myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease nemaline myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
central core myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease central core myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
centronuclear myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease centronuclear myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy of extraocular muscle Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy of extraocular muscle from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
central core myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease central core myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
brody myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myopathy of extraocular muscle Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
bethlem myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
x-linked myopathy with excessive autophagy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease x-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nemaline myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
adult onset multi/minicore myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult onset multi/minicore myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
variable myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease variable myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild myotubular myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild myotubular myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inherited myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inherited myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mitochondrial myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nemaline myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nemaline myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myopathy, idiopathic inflammatory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myopathy, idiopathic inflammatory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myopathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term myopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
myopathy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease myopathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
scapuloperoneal myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the scapuloperoneal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myofibrillar myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the myofibrillar myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the mitochondrial myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
skeletal myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the skeletal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
minicore (multicore) myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the minicore (multicore) myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myopathy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the myopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
nemaline myopathy 6, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy with extrapyramidal signs Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with extrapyramidal signs phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, early-onset, with fatal cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, early-onset, with fatal cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
centronuclear myopathy 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myosin storage Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset. |
native american myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the native american myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, x-linked, with postural muscle atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, x-linked, with postural muscle atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 1, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, tubular aggregate Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 8, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 4, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
brody myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the brody myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutral lipid storage disease with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutral lipid storage disease with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with cores Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with cores phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, congenital, compton-north Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy with lactic acidosis, hereditary Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 5, amish type Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 5, amish type phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital myopathy with excess of muscle spindles Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset. |
welander distal myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
bethlem myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, proximal, with early respiratory muscle involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
laing distal myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, tubular aggregate, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
scapuloperoneal myopathy, x-linked dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 7, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial myopathy and sideroblastic anemia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial myopathy and sideroblastic anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myotubular myopathy, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myotubular myopathy, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
minicore myopathy with external ophthalmoplegia Gene SetFrom OMIM Gene-Disease Associations genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, with anterior tibial onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
cap myopathy 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cap myopathy 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cap myopathy 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{centronuclear myopathy, autosomal, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {centronuclear myopathy, autosomal, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear phenotype from the curated OMIM Gene-Disease Associations dataset. |
?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to cpt ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
nonaka myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, tateyama type Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset. |
visceral myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the visceral myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to myoadenylate deaminase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Neutral Lipid Storage Disease With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neutral Lipid Storage Disease With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Central Core Myopathy (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Core Myopathy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Actin-Accumulation Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Actin-Accumulation Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Myotubular Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Myotubular Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Structural Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Structural Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intranuclear Rod Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intranuclear Rod Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myofibrillar Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myofibrillar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nemaline Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nemaline Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonaka Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonaka Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tubular Aggregate Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tubular Aggregate Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vacuolar Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vacuolar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Miyoshi Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miyoshi Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bethlem Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bethlem Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Minicore Myopathy With External Ophthalmoplegia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Minicore Myopathy With External Ophthalmoplegia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multi-Core Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multi-Core Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy, X-Linked Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sarcoid Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sarcoid Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alcohol Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brody Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brody Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotubular (Centronuclear) Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myotubular (Centronuclear) Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axial Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Critical Illness Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Critical Illness Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Welander Distal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Welander Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Myopathy With Focal Depletion Of Mitochondria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy With Focal Depletion Of Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Myopathy With Early Respiratory Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Myopathy With Early Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Native American Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Native American Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oculopharyngodistal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oculopharyngodistal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Klhl9-Related Early-Onset Distal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Klhl9-Related Early-Onset Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotubular Myopathy With Abnormal Genital Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myotubular Myopathy With Abnormal Genital Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Myopathy 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Myopathy 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inflammatory Myopathy With Abundant Macrophages Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Myopathy With Abundant Macrophages in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy With Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy With Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Samaritan Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Samaritan Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Myopathy With Myasthenic-Like Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Myopathy With Myasthenic-Like Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy, Tpm2-Related Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm2-Related in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy, Tpm3-Related (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm3-Related (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
myopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the myopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nemaline myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myofibrillar myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
GNE myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease GNE myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital structural myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Centronuclear myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Distal myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 4A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 4A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myofibrillar myopathy 9 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy 9 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 5 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Native American myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Native American myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Distal myopathy 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Brody myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Brody myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 1B Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nemaline myopathy 3 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Centronuclear myopathy X-linked Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy X-linked from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
GNE myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease GNE myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy X-linked Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy X-linked in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngodistal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy with rimmed vacuoles Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with rimmed vacuoles in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, benign infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked myopathy with excessive autophagy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Bethlem myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy with anterior tibial onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with anterior tibial onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Compton-North congenital myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Compton-North congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Scapuloperoneal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Scapuloperoneal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 6 with fiber-type disproportion Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 6 with fiber-type disproportion in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Brody myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cylindrical spirals myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cylindrical spirals myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 4A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy with extrapyramidal signs Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy with extrapyramidal signs in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Isolated mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Isolated mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 5A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 5A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Native American myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Native American myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngodistal myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy of extraocular muscle Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 22A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tubular aggregate myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tubular aggregate myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 22B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in F Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in F phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SELENON-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SELENON-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SCN4A-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCN4A-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GNE myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GNE myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant centronuclear myopathy 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. |
Sarcotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sarcotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM3-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM3-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nemaline myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nemaline myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Central core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Central core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital multicore myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital multicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RYR1-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RYR1-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYH7-related skeletal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH7-related skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myosin storage myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myosin storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Visceral myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Desmin-related myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Desmin-related myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bethlem myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Collagen 6-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Collagen 6-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Batten-Turner congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Batten-Turner congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brody myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inborn mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inborn mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Actin accumulation myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Actin accumulation myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 2b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 2c Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2c phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive scapulohumeroperoneal distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive scapulohumeroperoneal distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 10b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 10b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MEGF10-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MEGF10-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYPN-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYPN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neutral lipid storage myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral lipid storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Welander distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Welander distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Scapuloperoneal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and myopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TTN-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TTN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in POMG Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in POMG phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bailey-Bloch congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bailey-Bloch congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiminicore myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiminicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Miyoshi myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in PO Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in PO phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Proximal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Proximal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Compton-North congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Compton-North congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HNRNPDL-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the HNRNPDL-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Axial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Axial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SGCG-related congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SGCG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-lactic acidosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-lactic acidosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CAP-congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CAP-congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ACTA1 gene related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTA1 gene related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital nonprogressive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nonprogressive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM2-related cap myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related cap myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYH2-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital structural myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital structural myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood-onset autosomal recessive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood-onset autosomal recessive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Skeletal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM2-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial idiopathic inflammatory myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial idiopathic inflammatory myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
COL6A2-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the COL6A2-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Finnish upper limb-onset distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Finnish upper limb-onset distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SPEG-related congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SPEG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
IDUA-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the IDUA-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Oculopharyngodistal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculopharyngodistal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Simvastatin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Simvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Atorvastatin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Atorvastatin-induced myopathy 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. |
Statin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Idiopathic inflammatory myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Idiopathic inflammatory myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Congenital human immunodeficiency virus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
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, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 8, with autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 8, with autoimmunity 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. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic venoocclusive disease with immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic venoocclusive disease with immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Absent corpus callosum cataract immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Absent corpus callosum cataract immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 2 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. |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IL21R immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IL21R immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutrophil immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone insensitivity with immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone insensitivity with immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined immunodeficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined immunodeficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype 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, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 31C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 31C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 31a Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 31a 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. |
Immunodeficiency due to defect in cd3-zeta Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 27b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 27b 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. |
Immunodeficiency 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 29 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 38 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARD11 immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARD11 immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, normal intelligence and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 13 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. |
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. |
Common Variable Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Common Variable Immunodeficiency 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. |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 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. |
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Hepatic venoocclusive disease with immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic venoocclusive disease with immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Absent corpus callosum cataract immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Absent corpus callosum cataract immunodeficiency 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. |
Neutrophil Immunodeficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutrophil Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hyper-IgM Immunodeficiency Syndrome, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyper-IgM Immunodeficiency Syndrome, Type 1 from the curated CTD Gene-Disease Associations dataset. |
T cell immunodeficiency primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T cell immunodeficiency primary 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. |
Immunodeficiency due to Defect in CD3-Zeta Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset. |
Acquired Immunodeficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acquired Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
X-Linked Combined Immunodeficiency Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset. |
Hyper-IgM Immunodeficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyper-IgM Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
Acquired Immunodeficiency Syndrome Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Acquired Immunodeficiency Syndrome in GWAS and other genetic association datasets from the dbGAP Gene-Trait 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. |
common variable immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease common variable immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
primary immunodeficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease primary immunodeficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
primary immunodeficiency disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease primary immunodeficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
acquired immunodeficiency syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease acquired immunodeficiency syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
human immunodeficiency virus infectious disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease human immunodeficiency virus infectious disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
common variable immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease common variable immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary immunodeficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary immunodeficiency disease 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. |
acquired immunodeficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acquired immunodeficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
human immunodeficiency virus infectious disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease human immunodeficiency virus infectious disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carcinoma, squamous cell; conjunctival neoplasms; hiv infections; squamous cell carcinoma; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; conjunctival neoplasms; hiv infections; squamous cell carcinoma; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; hiv seropositivity; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; hiv seropositivity; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; hiv seropositivity; papillomavirus infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; hiv seropositivity; papillomavirus infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; cardiovascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; cardiovascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; pregnancy complications, infectious; viremia; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; pregnancy complications, infectious; viremia; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neutrophil immunodeficiency syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neutrophil immunodeficiency syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; viremia; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; viremia; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; igg deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; igg deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b; hepatitis c; hiv infections; porphyria cutanea tarda; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b; hepatitis c; hiv infections; porphyria cutanea tarda; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; tuberculosis; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; tuberculosis; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; hyperbilirubinemia; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; hyperbilirubinemia; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dyslipidemias; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dyslipidemias; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug hypersensitivity; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug hypersensitivity; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aids-related opportunistic infections; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aids-related opportunistic infections; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; substance abuse, intravenous; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; substance abuse, intravenous; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; hiv-associated lipodystrophy syndrome; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; hiv-associated lipodystrophy syndrome; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; lung diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; lung diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; hiv infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; disease progression 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. |
acquired immunodeficiency syndrome; substance abuse, intravenous Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; substance abuse, intravenous in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchiectasis; common variable immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchiectasis; common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c, chronic; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; lymphoproliferative disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; lymphoproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; lipodystrophy; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; lipodystrophy; [x]human immunodeficiency virus disease 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. |
acquired immunodeficiency syndrome; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; hiv seropositivity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; hiv seropositivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
increased perinatal immunodeficiency virus type 1 transmission Gene SetFrom GAD Gene-Disease Associations genes associated with the disease increased perinatal immunodeficiency virus type 1 transmission in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
central nervous system neoplasms; central nervous system tumors; hiv infections; lymphoma, aids-related; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease central nervous system neoplasms; central nervous system tumors; hiv infections; lymphoma, aids-related; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
iga deficiency and common variable immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease iga deficiency and common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; kaposi sarcoma; lymphoma, aids-related; sarcoma, kaposi Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; kaposi sarcoma; lymphoma, aids-related; sarcoma, kaposi in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aids-related opportunistic infections; cytomegalovirus retinitis; encephalomyelitis; hiv infections; hypersensitivity; mycobacterium avium-intracellulare infection; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aids-related opportunistic infections; cytomegalovirus retinitis; encephalomyelitis; hiv infections; hypersensitivity; mycobacterium avium-intracellulare infection; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; hepatitis c; hiv infections; porphyria cutanea tarda; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; hepatitis c; hiv infections; porphyria cutanea tarda; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; cytomegalovirus infections; graft vs host disease; hematologic diseases; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; cytomegalovirus infections; graft vs host disease; hematologic diseases; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
candidiasis, oral; hiv infections; oral candidiasis; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease candidiasis, oral; hiv infections; oral candidiasis; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; hiv infections; peripheral nervous system diseases; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; hiv infections; peripheral nervous system diseases; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; hyperlipidemias; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; hyperlipidemias; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; common variable immunodeficiency; iga deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; common variable immunodeficiency; iga deficiency 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. |
hepatitis c; hepatitis c, chronic; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; hepatitis c, chronic; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; hemochromatosis; igg deficiency; infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; hemochromatosis; igg deficiency; infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv infections; hypersensitivity, delayed; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv infections; hypersensitivity, delayed; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunodeficiency Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term immunodeficiency in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
HIV - Human immunodeficiency virus infection_T lymphocyte_GSE2504 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during HIV - Human immunodeficiency virus infection_T lymphocyte_GSE2504 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
HIV - Human immunodeficiency virus infection_Peripheral blood mononuclear cell_GSE2171 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during HIV - Human immunodeficiency virus infection_Peripheral blood mononuclear cell_GSE2171 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
HIV - Human immunodeficiency virus infection_T lymphocyte_GSE6740 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during HIV - Human immunodeficiency virus infection_T lymphocyte_GSE6740 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
common variable immunodeficiency Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease common variable immunodeficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
primary immunodeficiency disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease primary immunodeficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
acquired immunodeficiency syndrome Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease acquired immunodeficiency syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
human immunodeficiency virus infectious disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease human immunodeficiency virus infectious disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
immunodeficiency Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the immunodeficiency phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
osteomyelitis due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency 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. |
combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cellular immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the cellular immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic abscesses due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cellulitis due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Common Variable Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Common Variable Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Simian Acquired Immunodeficiency Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Simian Acquired Immunodeficiency 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. |
Acquired Immunodeficiency Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acquired Immunodeficiency Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Immunodeficiency virus transactivating regulatory protein (Tat) Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Immunodeficiency virus transactivating regulatory protein (Tat) protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
?immunodeficiency 37 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?immunodeficiency 37 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutrophil immunodeficiency syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutrophil immunodeficiency syndrome phenotype from the curated OMIM Gene-Disease 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. |
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 31a, mycobacteriosis, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 31a, mycobacteriosis, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
t-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the t-cell immunodeficiency, congenital alopecia, and nail dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, x-linked, with hyper-igm Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, x-linked, with hyper-igm phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, isolated Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, isolated phenotype from the curated OMIM Gene-Disease Associations dataset. |
hepatic venoocclusive disease with immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hepatic venoocclusive disease with immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 27b, mycobacteriosis, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 27b, mycobacteriosis, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency-centromeric instability-facial anomalies syndrome-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency-centromeric instability-facial anomalies syndrome-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth hormone insensitivity with immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth hormone insensitivity with immunodeficiency 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. |
immunodeficiency, common variable, 8, with autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 8, with autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
?immunodeficiency 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?immunodeficiency 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?immunodeficiency, common variable, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?immunodeficiency, common variable, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, primary, autosomal recessive, il21r-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, primary, autosomal recessive, il21r-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?immunodeficiency 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?immunodeficiency 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?immunodeficiency 22 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?immunodeficiency 22 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 17, cd3 gamma deficient Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 17, cd3 gamma deficient phenotype from the curated OMIM Gene-Disease Associations dataset. |
combined immunodeficiency, x-linked, moderate Gene SetFrom OMIM Gene-Disease Associations genes associated with the combined immunodeficiency, x-linked, moderate phenotype from the curated OMIM Gene-Disease Associations dataset. |