| Name |
|---|
MEHMO Genemental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome |
AAA1 Geneaortic aneurysm, familial abdominal 1 |
AAA3 GeneAneurysm, familial abdominal 3 |
AAA2 GeneAortic aneurysm, familial abdominal 2 |
AAA4 GeneAortic aneurysm, familial abdominal, 4 |
BMIQ7 GeneObesity, susceptibility to, on chromosome 4 |
BMIQ10 GeneObesity, susceptibility to, on chromosome 10q |
ASOBS GeneAsthma and obesity susceptibility, chromosome 16p11 inversion related |
FTO Genefat mass and obesity associated This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011] |
FTOP1 Genefat mass and obesity associated pseudogene 1 |
DGS2 GeneDiGeorge syndrome/velocardiofacial syndrome complex 2 |
TCOF1 GeneTreacher Collins-Franceschetti syndrome 1 This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] |
CDAGS GeneCraniosynostosis, anal anomalies, and porokeratosis syndrome |
PISRT1 Genepolled intersex syndrome regulated transcript 1 (non-protein coding RNA) |
SPG21 Genespastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] |
FRIASS GeneFrias syndrome |
DEL8Q13 GeneMesomelia-synostoses syndrome |
RENS2 GeneRenpenning syndrome 2 |
DUP5P13 GeneChromosome 5p13 duplication syndrome |
USH3B GeneUsher syndrome 3B |
ASPG2 GeneAsperger syndrome, susceptibility to, 2 |
ASPG3 GeneAsperger syndrome, susceptibility to, 3 |
ASPG4 GeneAsperger syndrome, susceptibility to, 4 |
MGS GeneMungan syndrome |
FWS GeneForsythe-Wakeling syndrome |
DEL15Q26QTER GeneChromosome 15q26-qter deletion syndrome |
SSSCA1 GeneSjogren syndrome/scleroderma autoantigen 1 This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008] |
SPG20 Genespastic paraplegia 20 (Troyer syndrome) This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008] |
JBS GeneJacobsen syndrome |
WS2B GeneWaardenburg syndrome, type 2B |
WS2C GeneWaardenburg syndrome, type IIC |
MRXSAB GeneAbidi X-linked mental retardation syndrome |
WHSC1 GeneWolf-Hirschhorn syndrome candidate 1 This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008] |
COHEN1 GeneCohen syndrome QTL 1 |
DCR GeneDown syndrome chromosome region Down syndrome, also known as trisomy 21, is the most frequent form of cognitive disability caused by a microscopically demonstrable chromosomal aberration. It is caused by a third copy (trisomy) of all or a critical portion of chromosome 21. Down syndrome is characterized by physical growth delays, dysmorphic facial features, heart and gastrointestinal disorders, and mild to moderate cognitive disability. [provided by RefSeq, Jul 2017] |
DUPXP11.22 GeneXp11.22 microduplication syndrome |
DEL15Q11.2 GeneChromosome 15q11.2 deletion syndrome |
HHT3 GeneOsler-Rendu-Weber syndrome 3 |
DEL1Q43Q44 GeneChromosome 1q42-q44 deletion syndrome |
OGS2 GeneOpitz G syndrome, type II This disorder, variously named the G, Opitz-G, or BBB syndrome, includes hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; and congenital heart defects.[supplied by OMIM, Jul 2002] |
AMMECR1 GeneAlport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] |
TUKLS GeneTukel syndrome |
PIH2 Genepregnancy-induced hypertension syndrome-related protein |
CXDUPQ26.3 GeneChromosome Xq26.3 duplication syndrome |
LOC729770 Genewiskott-Aldrich syndrome protein homolog |
HBHR Genealpha-thalassemia/mental retardation syndrome, type 1 |
NMLFS GeneNablus mask-like facial syndrome |
BMIQ16 GeneChromosome 16p11.2 deletion syndrome, 220kb |
DELYQ11 GeneSertoli cell-only syndrome, Y-linked |
DEL19P13.13 GeneChromosome 19p13.13 deletion syndrome |
DEL3PTERP25 Gene3p- syndrome |
TRIP4Q32.1Q32.2 GeneChromosome 4q32.1-q32.2 triplication syndrome |
DEL3Q13.31 GeneChromosome 3q13.31 deletion syndrome |
DEL15Q25 GeneChromosome 15q25 deletion syndrome |
SSB GeneSjogren syndrome antigen B (autoantigen La) The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014] |
DELXP21 GeneChromosome Xp21 deletion syndrome |
DEL17Q12 GeneChromosome 17q12 deletion syndrome |
EDS8 GeneEhlers-Danlos syndrome, type VIII |
LOC102724426 GeneSjoegren syndrome nuclear autoantigen 1 homolog |
DSCR8 GeneDown syndrome critical region 8 |
DSCR3 GeneDown syndrome critical region 3 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008] |
MLSM7 GeneMyelodysplasia and leukemia syndrome with monosomy 7 |
ALMS1 GeneAlstrom syndrome protein 1 This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] |
TAM GeneMyeloproliferative syndrome, transient (transient abnormal |
WHCR GeneWolf-Hirschhorn syndrome chromosome region Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010] |
DEL2Q23.1 GeneChromosome 2q23.1 deletion syndrome |
WHSC1L1 GeneWolf-Hirschhorn syndrome candidate 1-like 1 This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015] |
ATRX Genealpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017] |
DUP16P11.2 GeneChromosome 16p11.2 duplication syndrome |
MMDFS GeneMultiple mitochondrial dysfunctions syndrome |
DEL8Q21.11 GeneChromosome 8q21.11 deletion syndrome |
CDL2 GeneCornelia de Lange syndrome 2 |
DEL3Q29 GeneChromosome 3q29 microdeletion syndrome |
AMMEC GeneAlport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
DGCR9 GeneDiGeorge syndrome critical region gene 9 (non-protein coding) |
DGCR2 GeneDiGeorge syndrome critical region gene 2 Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
DGCR5 GeneDiGeorge syndrome critical region gene 5 (non-protein coding) Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025] |
DGCR7 GeneDiGeorge syndrome critical region gene 7 |
DGCR6 GeneDiGeorge syndrome critical region gene 6 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008] |
DEL9P GeneChromosome 9p deletion syndrome |
LVSKS GeneLevy-Shanske syndrome |
ADFN Genealbinism-deafness syndrome |
GPDS1 Geneglaucoma-related pigment dispersion syndrome 1 |
DEL2Q32Q33 GeneChromosome 2q32-q33 deletion syndrome |
CECR5 Genecat eye syndrome chromosome region, candidate 5 Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
CECR9 Genecat eye syndrome chromosome region, candidate 9 (non-protein coding) Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101929941 Geneneural Wiskott-Aldrich syndrome protein-like |
RIEG2 GeneRieger syndrome 2 |
DEL1Q41Q42 GeneChromosome 1q41-q42 deletion syndrome |
SBDS GeneShwachman-Bodian-Diamond syndrome This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017] |
PSS GenePotocki-Shaffer syndrome |
OCRL Geneoculocerebrorenal syndrome of Lowe This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
LOC100420893 GeneDown syndrome critical region 3 pseudogene |
PCOS1 Genepolycystic ovary syndrome 1 |
WHSC1L2P GeneWolf-Hirschhorn syndrome candidate 1-like 2, pseudogene |
DEL11P13 GeneWilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
WBSCR27 GeneWilliams Beuren syndrome chromosome region 27 This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008] |
WBSCR28 GeneWilliams-Beuren syndrome chromosome region 28 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DUP17Q23.1Q23.2 GeneChromosome 17q23.1-q23.2 duplication syndrome |
FGS2 GeneFG syndrome 2 |
FGS3 GeneFG syndrome 3 |
HYLS1 Genehydrolethalus syndrome 1 This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] |
EVC2 GeneEllis van Creveld syndrome 2 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
ACF GeneAsymmetric crying facies (Cayler cardiofacial syndrome) |
DEL6Q24Q25 GeneChromosome 6q25-q25 deletion syndrome |
MYSA Genemyasthenic (Lambert-Eaton) syndrome antigen A |
INDX GeneImmunoneurologic syndrome X-linked, of Wood, Black, and Norbury |
SCLL GeneChromosome 8p11 myeloproliferative syndrome |
ACLS Geneacrocallosal syndrome |
USHBP1 GeneUsher syndrome 1C binding protein 1 Enables PDZ domain binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
LOC389465 GeneSjogren syndrome antigen B pseudogene |
TEMPS GeneTemple syndrome |
GHS GeneGoldenhar syndrome |
KONDS GeneKondoh syndrome |
NIPA2P3 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3 |
NIPA2P2 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2 |
NIPA2P1 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1 |
NIPA2P5 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5 |
NIPA2P4 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4 |
NHS GeneNance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] |
MROS GeneMelkersson-Rosenthal syndrome |
CECR1 Genecat eye syndrome chromosome region, candidate 1 This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
CECR2 Genecat eye syndrome chromosome region, candidate 2 This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] |
CECR3 Genecat eye syndrome chromosome region, candidate 3 (non-protein coding) |
CECR6 Genecat eye syndrome chromosome region, candidate 6 |
DELXQ28 GeneChromosome Xq28 microdeletion syndrome |
APMR3 GeneAlopecia-mental retardation syndrome 3 |
APMR2 GeneAlopecia with mental retardation syndrome 2 |
APMR1 GeneAlopecia-mental retardation syndrome |
COHEN2 GeneCohen syndrome QTL 2 |
DUP2Q31.1 GeneChromosome 2q31.1 duplication syndrome |
MKKS GeneMcKusick-Kaufman syndrome This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023] |
DEL22Q11.2 GeneChromosome 22q11.2 deletion syndrome, distal |
USH2A GeneUsher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
MDS2 Genemyelodysplastic syndrome 2 translocation associated Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
DEL13Q14 GeneChromosome 13q14 deletion syndrome |
DUP16P13.3 GeneChromosome 16p13.3 duplication syndrome |
DEL6PTER GeneChromosome 6pter deletion syndrome |
WRN GeneWerner syndrome, RecQ helicase-like This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017] |
DUPXQ28 GeneChromosome Xq28 duplication syndrome |
DEL2P12P11.2 GeneChromosome 2p12-p11.2 deletion syndrome |
ARCODS GeneAriculocondylar syndrome |
MKS1 GeneMeckel syndrome, type 1 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
DGCR GeneDiGeorge syndrome chromosome region DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009] |
LOC100421446 GeneWolf-Hirschhorn syndrome candidate 1-like 1 pseudogene |
ANCR GeneAngelman syndrome chromosome region Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017] |
DEL2Q31 GeneChromosome 2q31.2 deletion syndrome |
RJBS GeneRajab syndrome |
DEL16P12.1P11.2 GeneChromosome 16p12.2-p11.2 deletion syndrome |
MDNS GeneMammary-digital-nail syndrome |
DEL2P16.1-P15 GeneChromosome 2p16.1-p15 deletion syndrome |
WBSCR17 GeneWilliams-Beuren syndrome chromosome region 17 This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013] |
DEL6Q11Q14 GeneChromosome 6q11-q14 deletion syndrome |
WAS GeneWiskott-Aldrich syndrome The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008] |
MRXSA GeneArmfield X-linked mental retardation syndrome |
MRXSL GeneLubs X-linked mental retardation syndrome |
RFMN GeneRoifman syndrome |
DUP22Q11.2 GeneChromosome 22q11.2 microduplication syndrome |
DSCAM GeneDown syndrome cell adhesion molecule This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] |
CATMANS GeneCatel-Manzke syndrome |
ICR4 Geneichthyosis congenita IV, ichthyosis-prematurity syndrome |
LRSL GeneLarsen-like syndrome |
DUP7Q11.23 GeneChromosome 7q11.23 duplication syndrome |
MRXSBWB GeneBrooks-Wisniewski-Brown syndrome |
MBS1 GeneMoebius syndrome 1 |
MBS2 GeneMoebius syndrome 2 |
MBS3 GeneMoebius syndrome 3 |
THAS Genethoracoabdominal syndrome |
DEL16P13.3 GeneChromosome 16p13.3 deletion syndrome |
DSCR9 GeneDown syndrome critical region 9 (non-protein coding) |
DSCR4 GeneDown syndrome critical region 4 The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015] |
DEL17Q23.1Q23.2 GeneChromosome 17q23.1-q23.2 deletion syndrome |
AIC GeneAicardi syndrome |
DEL1P32P31 GeneChromosome 1p32-p31 deletion syndrome |
DUPXQ27.3Q28 GeneChromosome Xq27.3-q28 duplication syndrome |
DEL14Q11Q22 GeneChromosome 14q11-q22 deletion syndrome |
MCS GeneMiles-Carpenter X-linked mental retardation syndrome |
SPPM Genescapuloperoneal syndrome, myopathic type |
DUP17P13.3 GeneChromosome 17p13.3 duplication syndrome |
SMCR8 GeneSmith-Magenis syndrome chromosome region, candidate 8 Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025] |
SMCR2 GeneSmith-Magenis syndrome chromosome region, candidate 2 (non-protein coding) |
SMCR5 GeneSmith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) |
SMCR6 GeneSmith-Magenis syndrome chromosome region, candidate 6 (non-protein coding) |
CECR7 Genecat eye syndrome chromosome region, candidate 7 (non-protein coding) |
CYLD Genecylindromatosis (turban tumor syndrome) This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
DEL2P21 GeneHypotonia-cystinuria syndrome |
WAGRO GeneWAGRO syndrome |
OFD1 Geneoral-facial-digital syndrome 1 This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016] |
EDSS2 GeneEctodermal dysplasia-syndactyly syndrome 2 |
DELXP11.3 GeneChromosome Xp11.3 deletion syndrome |
MRXSMP GeneMartin-Probst deafness-mental retardation syndrome |
MSD Genemicrocephaly with spastic diplegia (Paine syndrome) |
PRS GenePrieto X-linked mental retardation syndrome |
DUP17Q12 GeneChromosome 17q12 duplication syndrome |
USH1K GeneUsher syndrome 1K (autosomal recessive) |
SPG38 Genespastic paraplegia 38 (autosomal dominant, Silver syndrome) |
ALMS1P GeneAlstrom syndrome 1 pseudogene |
SBDSP1 GeneShwachman-Bodian-Diamond syndrome pseudogene 1 |
ACRPV GeneAcropectorovertebral dysplasia (F syndrome) |
ACRPS GeneAcropectoral syndrome |
PRBNS GenePierre Robin syndrome |
ZLS GeneZimmerman-Laband Syndrome |
CCCSX GeneCerebral-cerebellar-coloboma syndrome, X-linked |
WBSCR22 GeneWilliams Beuren syndrome chromosome region 22 This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011] |
WFS1 GeneWolfram syndrome 1 (wolframin) This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] |
DUP3Q29 Genechromosome 3q29 microduplication syndrome |
DUPXP11.23P11.22 GeneChromosome Xp11.23-p11.22 duplication syndrome |
ASPG1 GeneAsperger syndrome, susceptibility to, 1 |
DEL18P GeneChromosome 18p deletion syndrome |
DEL18Q GeneChromosome 18q deletion syndrome |
FRTS1 GeneFanconi renotubular syndrome |
PTLS GenePotocki-Lupski syndrome |
CECR Genecat eye syndrome chromosome region Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009] |
FGS5 GeneFG syndrome 5 |
IPW Geneimprinted in Prader-Willi syndrome (non-protein coding) This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010] |
DER22T11-22 GeneEmanuel syndrome |
DGCR11 GeneDiGeorge syndrome critical region gene 11 (non-protein coding) |
DGCR10 GeneDiGeorge syndrome critical region gene 10 (non-protein coding) |
DGCR12 GeneDiGeorge syndrome critical region gene 12 (non-protein coding) |
DGCR14 GeneDiGeorge syndrome critical region gene 14 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] |
DSCR10 GeneDown syndrome critical region 10 (non-protein coding) |
GTS GeneGilles de la Tourette syndrome |
DEL15Q24 GeneChromosome 15q24 deletion syndrome |
RCHTS GeneRoifman-Chitayat syndrome |
C16DELQ22 GeneChromosome 16q22 deletion syndrome |
TRPS1 Genetrichorhinophalangeal syndrome I This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] |
DEL15Q13.3 GeneChromosome 15q13.3 microdeletion syndrome |
DWS Genedandy-walker syndrome |
DUP1Q21 GeneChromosome 1q21.1 duplication syndrome |
WBS2 GeneWilliams-Beuren syndrome type 2 |
WBSCR2 GeneWilliams-Beuren syndrome chromosome region 2 |
LFS3 GeneLi-Fraumeni syndrome 3 |
ATD Geneasphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) |
USH1H GeneUsher syndrome 1H (autosomal recessive) |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1G GeneUsher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
RSS GeneRussell Silver syndrome |
SCKL3 GeneSeckel syndrome 3 |
WSN GeneWaisman syndrome |
RSCIS GeneRadiation sensitivity/chromosome instability syndrome, autosomal dominant |
DER22T8-22 GeneSupernumerary der(22)t(8-22) syndrome |
GUST GeneGustavson mental retardation syndrome (with microcephaly, optic |
RLS3 GeneRestless legs syndrome 3 |
RLS2 GeneRestless legs syndrome 2 |
RLS1 GeneRestless legs syndrome, susceptibility to |
RLS7 GeneRestless legs syndrome 7 |
RLS6 GeneRestless legs syndrome, susceptibility to, 6 |
RLS5 GeneRestless legs syndrome, susceptibility to, 5 |
RLS8 GeneRestless legs syndrome, susceptibility to, 8 |
WASL GeneWiskott-Aldrich syndrome-like This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013] |
BBS9 GeneBardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017] |
BBS1 GeneBardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] |
BBS2 GeneBardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014] |
BBS5 GeneBardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] |
BBS4 GeneBardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein `BBSome` complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
BBS7 GeneBardet-Biedl syndrome 7 This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014] |
NIPA2 Genenon imprinted in Prader-Willi/Angelman syndrome 2 This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010] |
NIPA1 Genenon imprinted in Prader-Willi/Angelman syndrome 1 This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008] |
LOC100500719 GeneHermansky-Pudlak syndrome 1 pseudogene |
ATPLS Geneantiphospholipid syndrome, familial |
DEL1P36 GeneChromosome 1p36 deletion syndrome |
DURS1 GeneDuane retraction syndrome 1 |
VWSM GeneVan der Woude syndrome modifier |
DSCAML1 GeneDown syndrome cell adhesion molecule like 1 The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016] |
LOC653588 GeneSjogren syndrome antigen B (autoantigen La) pseudogene |
GTSCR1 GeneGilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding) Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DEL17Q21.31 GeneMicrodeletion 17q21.31 syndrome |
NS2 GeneNoonan syndrome 2 |
RLS4 GeneRestless legs syndrome 4 |
DEL7Q11.23 GeneChromosome 7q11.23 deletion syndrome, distal, 1.2Mb |
AOS GeneAdams-Oliver syndrome |
BBS10 GeneBardet-Biedl syndrome 10 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] |
BBS12 GeneBardet-Biedl syndrome 12 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] |
CFSS Genecraniofacioskeletal syndrome |
SSNA1 GeneSjogren syndrome nuclear autoantigen 1 Enables identical protein binding activity and microtubule binding activity. Involved in axonogenesis; cell division; and microtubule nucleation. Located in several cellular components, including axoneme; microtubule organizing center; and midbody. [provided by Alliance of Genome Resources, Mar 2025] |
DUP17Q21.31 GeneChromosome 17q21.31 duplication syndrome |
BOS2 GeneBranchiootic syndrome 2 |
DEL19Q13.11 GeneChromosome 19q13.11 deletion syndrome |
LOC100533757 GeneSjogren syndrome antigen B (autoantigen La) pseudogene |
DEL10Q26 GeneChromosome 10q deletion syndrome |
WBSCR16 GeneWilliams-Beuren syndrome chromosome region 16 This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
OTDD GeneOtodental dysplasia chromosome deletion syndrome |
DEL17Q11.2 Genechromosome 17q11.2 deletion syndrome |
DUP8Q22.1 GeneLeri pleonosteosis chromosome duplication syndrome |
EEC2 Geneectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 |
EEC1 Geneectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 |
DEL4Q21 GeneChromosome 4q21 deletion syndrome |
DUP22Q13 GeneChromosome 22q13 duplication syndrome |
DGCR6L GeneDiGeorge syndrome critical region gene 6-like This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008] |
BLM GeneBloom syndrome, RecQ helicase-like The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020] |
WTRS GeneWittwer syndrome |
DEL17P13.1 GeneChromosome 17p13.1 deletion syndrome |
KTWS GeneKlippel-Trenaunay-Weber syndrome |
DEL11P15P14 GeneChromosome 11p15-p14 deletion syndrome |
DEL1Q21 GeneChromosome 1q21.1 deletion syndrome |
DEL8Q12Q21 GeneBor-Duane hydrocephalus contiguous gene syndrome |
SLSN3 GeneSenior-Loken syndrome 3 |
BZX GeneBazex syndrome |
ARVCF Genearmadillo repeat gene deleted in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] |
HPS5 GeneHermansky-Pudlak syndrome 5 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
HPS4 GeneHermansky-Pudlak syndrome 4 This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
HPS6 GeneHermansky-Pudlak syndrome 6 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] |
HPS1 GeneHermansky-Pudlak syndrome 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] |
HPS3 GeneHermansky-Pudlak syndrome 3 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] |
LCS1 Genelymphedema-cholestasis syndrome 1 |
abdominal obesity-metabolic syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the abdominal obesity-metabolic syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Abdominal Obesity-Metabolic Syndrome 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Obesity-Metabolic Syndrome 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal obesity-metabolic syndrome 1 Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Abdominal obesity-metabolic syndrome 1 in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Abdominal obesity-metabolic syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Abdominal obesity-metabolic syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Obesity, Abdominal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Obesity, Abdominal from the curated CTD Gene-Disease Associations dataset. |
adiposity and abdominal obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adiposity and abdominal obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity, abdominal; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity, abdominal; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Obesity, Abdominal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Obesity, Abdominal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
obesity; obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal pain; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal pain; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Abdominal Compartment Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Compartment Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Functional Abdominal Pain Syndrome Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Functional Abdominal Pain Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
acute coronary syndrome; diabetes complications; diabetes mellitus; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute coronary syndrome; diabetes complications; diabetes mellitus; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperphagia; obesity; wagr syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperphagia; obesity; wagr syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; insulin resistance; obesity; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; insulin resistance; obesity; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; postthrombotic syndrome; varicose veins; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; postthrombotic syndrome; varicose veins; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; leanness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; leanness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amenorrhea; hirsutism; insulin resistance; obesity; oligomenorrhea; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amenorrhea; hirsutism; insulin resistance; obesity; oligomenorrhea; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; hyperandrogenism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; obesity; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; obesity; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; hypertension; obesity; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; hypertension; obesity; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deafness-encephaloneuropathy-obesity-valvulopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-brachydactyly-obesity-global developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-brachydactyly-obesity-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
sporadic abdominal aortic aneurysm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the sporadic abdominal aortic aneurysm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic Aneurysm, Familial Abdominal 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 2 from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Abdominal 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 1 from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Abdominal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Abdominal from the curated CTD Gene-Disease Associations dataset. |
Abdominal Pain Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abdominal Pain from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Abdominal 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 3 from the curated CTD Gene-Disease Associations dataset. |
Fibromatosis, Abdominal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibromatosis, Abdominal from the curated CTD Gene-Disease Associations dataset. |
Abdominal Fat Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Abdominal Fat in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Aortic Aneurysm, Abdominal Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Aortic Aneurysm, Abdominal in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Aorta, Abdominal Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Aorta, Abdominal in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Intra-Abdominal Fat Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Intra-Abdominal Fat in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
hemangioma of intra-abdominal structure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hemangioma of intra-abdominal structure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
abdominal tuberculosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease abdominal tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
abdominal aortic aneurysm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease abdominal aortic aneurysm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
intra-abdominal fat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intra-abdominal fat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal pain; amyloidosis; arthritis; familial mediterranean fever; fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal pain; amyloidosis; arthritis; familial mediterranean fever; fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, ruptured; aortic aneurysm, abdominal; intracranial aneurysm; subarachnoid hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, ruptured; aortic aneurysm, abdominal; intracranial aneurysm; subarachnoid hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adipocyte size, large subcutaneous abdominal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adipocyte size, large subcutaneous abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; inflammation; postoperative complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; inflammation; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aorta, abdominal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aorta, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal fat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal fat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal adiposity and hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal adiposity and hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, ruptured; aortic aneurysm, abdominal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, ruptured; aortic aneurysm, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal aortic aneurysm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal aortic aneurysm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
complications after major abdominal operations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease complications after major abdominal operations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; aortic diseases; arterial occlusive diseases; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; aortic diseases; arterial occlusive diseases; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; lung cancer; abdominal aortic aneurysm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; lung cancer; abdominal aortic aneurysm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, ruptured; aortic aneurysm, abdominal; arterial occlusive diseases; carotid artery stenosis; carotid stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, ruptured; aortic aneurysm, abdominal; arterial occlusive diseases; carotid artery stenosis; carotid stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, abdominal aortic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, abdominal aortic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; fibromatosis, abdominal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; fibromatosis, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; coronary artery disease; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; coronary artery disease; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; disease susceptibility; hypertension; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; disease susceptibility; hypertension; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; arterial occlusive diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; arterial occlusive diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; aortic rupture Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; aortic rupture in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance and intra-abdominal fat thickness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance and intra-abdominal fat thickness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; aortic diseases; arterial occlusive diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; aortic diseases; arterial occlusive diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic aneurysm, abdominal; arteriosclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic aneurysm, abdominal; arteriosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal pain; dyspepsia; helicobacter infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal pain; dyspepsia; helicobacter infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
differential expansion rates of small abdominal aortic aneurysms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease differential expansion rates of small abdominal aortic aneurysms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term abdominal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Abdominal aortic aneurysm Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Abdominal aortic aneurysm phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
abdominal aortic aneurysm Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease abdominal aortic aneurysm in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
abdominal aortic aneurysm Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abdominal aortic aneurysm phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
dilatation of the abdominal aorta Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the dilatation of the abdominal aorta phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abdominal symptom Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abdominal symptom phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of the abdominal organs Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the abdominal organs phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abdominal wall muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal wall muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aplasia of the abdominal wall musculature Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia of the abdominal wall musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hernia of the abdominal wall Gene SetFrom HPO Gene-Disease Associations genes associated with the hernia of the abdominal wall phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
partial abdominal muscle agenesis Gene SetFrom HPO Gene-Disease Associations genes associated with the partial abdominal muscle agenesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal symptom Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal symptom phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal aortic aneurysm Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal aortic aneurysm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal colic Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal colic phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal wall defect Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal situs inversus Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal situs inversus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal pain Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the abdominal wall Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the abdominal wall phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aplasia/hypoplasia of the abdominal wall musculature Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia of the abdominal wall musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dilatation of the abdominal aorta Gene SetFrom HPO Gene-Disease Associations genes associated with the dilatation of the abdominal aorta phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal distention Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal distention phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of abdominal situs Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of abdominal situs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the abdominal musculature Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the abdominal musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
episodic abdominal pain Gene SetFrom HPO Gene-Disease Associations genes associated with the episodic abdominal pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aneurysm of an abdominal artery Gene SetFrom HPO Gene-Disease Associations genes associated with the aneurysm of an abdominal artery phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the abdominal organs Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the abdominal organs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypoplasia of the abdominal wall musculature Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoplasia of the abdominal wall musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Fibromatosis, Abdominal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibromatosis, Abdominal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abdominal Neoplasms Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abdominal Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Aortic Aneurysm, Abdominal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Aortic Aneurysm, Abdominal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abdominal Pain Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Abdominal Pain phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abdominal aorta aneurysm Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abdominal aorta aneurysm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased abdominal adipose tissue amount Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased abdominal adipose tissue amount phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abdominal situs ambiguus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abdominal situs ambiguus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal abdominal aorta morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal abdominal aorta morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal abdominal lymph node morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal abdominal lymph node morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abdominal situs inversus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abdominal situs inversus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal abdominal wall morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal abdominal wall morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased abdominal fat pad weight Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased abdominal fat pad weight phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased abdominal fat pad weight Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased abdominal fat pad weight phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
herniated abdominal wall Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the herniated abdominal wall phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal abdominal fat pad morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal abdominal fat pad morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
aortic aneurysm, familial abdominal 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial abdominal 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial abdominal 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial abdominal 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{aneurysm, familial abdominal 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {aneurysm, familial abdominal 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial abdominal, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial abdominal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
abdominal adipose tissue Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue abdominal adipose tissue from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
abdominal ganglion Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue abdominal ganglion in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
thoracico-abdominal ganglion Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue thoracico-abdominal ganglion in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
abdominal muscle Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue abdominal muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
abdominal adipose tissue Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue abdominal adipose tissue in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
abdominal aorta Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue abdominal aorta in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Abdominal Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dissecting Abdominal Aortic Aneurysm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dissecting Abdominal Aortic Aneurysm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intra-Abdominal Hypertension Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intra-Abdominal Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ruptured Abdominal Aortic Aneurysm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ruptured Abdominal Aortic Aneurysm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of The Abdominal Wall Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of The Abdominal Wall in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibromatosis, Abdominal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibromatosis, Abdominal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Cryptorchidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Cryptorchidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Abscess Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Abscess in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Migraine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Migraine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inflammatory Abdominal Aortic Aneurysm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Abdominal Aortic Aneurysm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Adhesions Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Adhesions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Tuberculosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Tuberculosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Extra-Abdominal Fibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Extra-Abdominal Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Aortic Atherosclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Aortic Atherosclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Complicated Intra-Abdominal Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Complicated Intra-Abdominal Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metastases To Abdominal Cavity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metastases To Abdominal Cavity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abdominal Cocoon Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abdominal Cocoon in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Aplasia/Hypoplasia Of The Abdominal Wall Musculature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aplasia/Hypoplasia Of The Abdominal Wall Musculature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Bloating Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Bloating in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acute Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acute Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Symptom Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Symptom in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Colic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Colic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Tenderness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Tenderness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Functional Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Functional Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Recurrent Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Recurrent Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Episodic Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Episodic Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chronic Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chronic Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Wall Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Wall Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Aplasia Of The Abdominal Wall Musculature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aplasia Of The Abdominal Wall Musculature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Discomfort Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Discomfort in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Partial Abdominal Muscle Agenesis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Partial Abdominal Muscle Agenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Pain In Children Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Pain In Children in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nonspecific Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonspecific Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Cramps Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Cramps in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Situs Ambiguus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Situs Ambiguus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dilated Superficial Abdominal Veins Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dilated Superficial Abdominal Veins in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abdominal Mass Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abdominal Mass in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Abdominal Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Abdominal Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
herniated abdominal wall Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the herniated abdominal wall phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal abdominal wall morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal abdominal wall morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal abdominal fat pad morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal abdominal fat pad morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased abdominal fat pad weight Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased abdominal fat pad weight phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased abdominal adipose tissue amount Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased abdominal adipose tissue amount phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased abdominal fat pad weight Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased abdominal fat pad weight phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased abdominal adipose tissue amount Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased abdominal adipose tissue amount phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abdominal situs ambiguus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abdominal situs ambiguus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abdominal situs abnormality Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abdominal situs abnormality phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal abdominal aorta morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal abdominal aorta morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abdominal aorta aneurysm Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abdominal aorta aneurysm phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abdominal situs inversus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abdominal situs inversus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal abdominal lymph node morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal abdominal lymph node morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal abdominal muscle morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal abdominal muscle morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
focal hair loss in abdominal region Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the focal hair loss in abdominal region phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal abdominal wall morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal abdominal wall morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Abdominal aortic aneurysm Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Abdominal aortic aneurysm in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Abdominal aortic aneurysm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Abdominal aortic aneurysm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Abdominal tuberculosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Abdominal tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hemangioma of intra-abdominal structure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hemangioma of intra-abdominal structure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Abdominal adipose tissue Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Abdominal adipose tissue from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Abdominal adipose tissue Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Abdominal adipose tissue in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Abdominal aorta Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Abdominal aorta in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Abdominal muscle Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Abdominal muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Abdominal ganglion Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Abdominal ganglion in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
thoracico-abdominal ganglion Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue thoracico-abdominal ganglion in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Sporadic abdominal aortic aneurysm Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sporadic abdominal aortic aneurysm phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Abdominal aortic aneurysm Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Abdominal aortic aneurysm phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Abdominal aortic calcification levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Abdominal aortic calcification levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Abdominal subcutaneous adipose tissue volume Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Abdominal subcutaneous adipose tissue volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
role of ppar-gamma coactivators in obesity and thermogenesis Gene SetFrom Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset. |
Morbid obesity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Morbid obesity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, hyperphagia, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Morbid obesity and spermatogenic failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Obesity from the curated CTD Gene-Disease Associations dataset. |
Obesity, Morbid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Obesity, Morbid from the curated CTD Gene-Disease Associations dataset. |
Obesity Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Obesity in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
obesity Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease obesity from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
obesity Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease obesity in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
morbid obesity Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease morbid obesity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
obesity Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease obesity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypertension; inflammation; obesity; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; inflammation; obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; cardiovascular diseases; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; cardiovascular diseases; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity (bmi = 30 kg/m2) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity (bmi = 30 kg/m2) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; coronary disease; coronary heart disease; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary disease; coronary heart disease; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity-related traits Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus, type 1; obesity; pregnancy in diabetics Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus, type 1; obesity; pregnancy in diabetics in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; osteoporosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; obesity; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; obesity; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; hypertension; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; hypertension; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperglycemia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperglycemia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension and obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension and obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; hypertension; obesity, localized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hypertension; obesity, localized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypercholesterolemia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypercholesterolemia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dyslipidemias; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dyslipidemias; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol; triglycerides; diabetes, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol; triglycerides; diabetes, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; cortisol Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; cortisol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; overweight; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; overweight; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol; cholesterol, hdl; cholesterol, ldl; hypertension; lipoproteins; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol; cholesterol, hdl; cholesterol, ldl; hypertension; lipoproteins; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; lipolysis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; lipolysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus, type 2; hypercholesterolemia; hyperlipidemias; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus, type 2; hypercholesterolemia; hyperlipidemias; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; obesity; birth weight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; obesity; birth weight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity- associated hypertension ??????? Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity- associated hypertension ??????? in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apnea; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apnea; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; diabetes mellitus, type 2; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; diabetes mellitus, type 2; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; glucose intolerance; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; glucose intolerance; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometrial neoplasms; obesity; uterine neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometrial neoplasms; obesity; uterine neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholelithiasis; obesity, morbid; postoperative complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholelithiasis; obesity, morbid; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; obesity, morbid; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; obesity, morbid; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
childhood obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease childhood obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; depression; cerebrovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; depression; cerebrovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; weight gain; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; weight gain; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; osteoporosis, postmenopausal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; osteoporosis, postmenopausal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; affective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; affective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes complications; fatty liver; fatty liver, alcoholic; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes complications; fatty liver; fatty liver, alcoholic; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain ischemia; diabetes mellitus; hemiplegia; hypercholesterolemia; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain ischemia; diabetes mellitus; hemiplegia; hypercholesterolemia; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriosclerosis; cardiovascular diseases; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriosclerosis; cardiovascular diseases; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; type 2 diabetes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; type 2 diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; cardiovascular diseases; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; cardiovascular diseases; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol; triglycerides; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol; triglycerides; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; insulin; lipids; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; insulin; lipids; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; glucose intolerance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; glucose intolerance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-2-macroglobulin concentration obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-2-macroglobulin concentration obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity, localized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity, localized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
head and neck neoplasms; kidney neoplasms; lung neoplasms; neoplasms; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease head and neck neoplasms; kidney neoplasms; lung neoplasms; neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; ventricular dysfunction, left Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; ventricular dysfunction, left in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; hypertension; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hypertension; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; body weight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; body weight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction; obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; bone mineral density Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; bone mineral density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; hyperlipidemia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hyperlipidemia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; retinal vascular occlusion Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; retinal vascular occlusion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
triglycerides; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease triglycerides; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
triglycerides; insulin; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease triglycerides; insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperlipidemias; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperlipidemias; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes complications; ischemic attack, transient; obesity; transient ischemic attack Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes complications; ischemic attack, transient; obesity; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; lipids; obesity; glucose; leptin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; lipids; obesity; glucose; leptin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; obesity; blood pressure, arterial; blood and blood forming organ disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; obesity; blood pressure, arterial; blood and blood forming organ disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cataract; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cataract; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dyslipidemias; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dyslipidemias; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity and insulin response Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity and insulin response in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; overnutrition; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; overnutrition; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; obesity; leptin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; obesity; leptin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; endometrial neoplasms; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; endometrial neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma; lipids; c-reactive protein; obesity; glucose; leptin; atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; lipids; c-reactive protein; obesity; glucose; leptin; atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus. obesity. and lipaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus. obesity. and lipaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; prostate cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; prostate cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain ischemia; hyperlipidemias; hypertension; intracranial arteriosclerosis; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain ischemia; hyperlipidemias; hypertension; intracranial arteriosclerosis; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperinsulinism; hyperphagia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperinsulinism; hyperphagia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary stenosis; hypercholesterolemia; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary stenosis; hypercholesterolemia; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris; apoplexy; cardiovascular diseases; diabetes mellitus; hyperlipidemias; hypertension; myocardial infarction; obesity; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris; apoplexy; cardiovascular diseases; diabetes mellitus; hyperlipidemias; hypertension; myocardial infarction; obesity; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; hepatitis; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; hepatitis; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity (early onset extreme) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity (early onset extreme) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; diabetes mellitus; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; diabetes mellitus; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; blood pressure, arterial; sleep apnea Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; blood pressure, arterial; sleep apnea in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; insulin; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity and type 2 diabetes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity and type 2 diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity, morbid; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity, morbid; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; liver cirrhosis; obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; liver cirrhosis; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colonic neoplasms; obesity; rectal neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colonic neoplasms; obesity; rectal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity ????????? Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity ????????? in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; insulin; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity, morbid; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity, morbid; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; diabetes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarct; lipoprotein; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarct; lipoprotein; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; lipids; obesity; glucose; leptin; cortisol Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; lipids; obesity; glucose; leptin; cortisol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris; myocardial infarction; obesity; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris; myocardial infarction; obesity; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; obesity; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; obesity; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; glucose tolerance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; glucose tolerance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; ovarian cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; ovarian cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; obesity; osteoarthritis, knee; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; obesity; osteoarthritis, knee; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose metabolism disorders; obesity; spinal dysraphism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose metabolism disorders; obesity; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dyslipidemias; glucose intolerance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dyslipidemias; glucose intolerance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lipid metabolism disorders; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lipid metabolism disorders; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol, hdl; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol, hdl; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; glucose intolerance; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; glucose intolerance; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperglycemia; insulin resistance; myocardial infarction; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperglycemia; insulin resistance; myocardial infarction; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity and osteoporosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity and osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acanthosis nigricans; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acanthosis nigricans; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperinsulinism; hypertriglyceridemia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperinsulinism; hypertriglyceridemia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lipids; obesity; glucose; cortisol Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lipids; obesity; glucose; cortisol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; neoplasms; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; neoplasms; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; diabetes complications; diabetes mellitus; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; diabetes complications; diabetes mellitus; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; blood pressure, arterial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; blood pressure, arterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphoma; obesity, localized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphoma; obesity, localized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; smoking behavior; obesity, localized; memory disturbance; longevity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; smoking behavior; obesity, localized; memory disturbance; longevity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance in obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance in obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperlipidemias; myocardial infarction; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperlipidemias; myocardial infarction; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose tolerance; insulin; obesity; energy expenditure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose tolerance; insulin; obesity; energy expenditure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; breast cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; hyperlipidemias; hypertension; obesity; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hyperlipidemias; hypertension; obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; diabetes mellitus; dyslipidemias; hypertension; obesity; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; diabetes mellitus; dyslipidemias; hypertension; obesity; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lipids; c-reactive protein; obesity; glucose; leptin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lipids; c-reactive protein; obesity; glucose; leptin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; dementia; diabetes mellitus type ii; diabetes mellitus, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; dementia; diabetes mellitus type ii; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; insulin; lipids; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; insulin; lipids; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intrauterine growth; obesity; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intrauterine growth; obesity; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity and glucose homeostasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity and glucose homeostasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; bulimia nervosa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; bulimia nervosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; hyperandrogenism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; barrett esophagus; esophageal neoplasms; gastroesophageal reflux; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; barrett esophagus; esophageal neoplasms; gastroesophageal reflux; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colonic neoplasms; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colonic neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes complications; hypercholesterolemia; hypertension; myocardial infarction; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes complications; hypercholesterolemia; hypertension; myocardial infarction; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; obesity; birth weight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; obesity; birth weight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; hypertension; insulin; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hypertension; insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acanthosis nigricans; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acanthosis nigricans; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; hypertriglyceridemia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; hypertriglyceridemia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
disease models, animal; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disease models, animal; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; asthma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; asthma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity (extreme) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity (extreme) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus, type 2; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus, type 2; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperphagia; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperphagia; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarction; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarction; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometrial neoplasms; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometrial neoplasms; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; hyperlipidemias; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; hyperlipidemias; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol, hdl; cardiovascular disease; obesity; hyperuricemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol, hdl; cardiovascular disease; obesity; hyperuricemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cellulitis; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cellulitis; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity, morbid; postoperative complications; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity, morbid; postoperative complications; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
triglycerides; obesity; adiponectin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease triglycerides; obesity; adiponectin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; bmi Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; bmi in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; hypertriglyceridemia; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hypertriglyceridemia; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol; insulin; obesity; blood pressure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol; insulin; obesity; blood pressure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperphagia; obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperphagia; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; insulin; obesity; glucose Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; insulin; obesity; glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; fetal weight; obesity; pregnancy in diabetics Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; fetal weight; obesity; pregnancy in diabetics in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; birth weight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; birth weight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; glucose tolerance; insulin; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; glucose tolerance; insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; energy expenditure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; energy expenditure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometrial neoplasms; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometrial neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes and obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes and obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lipids; hyperinsulinemia; obesity, visceral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lipids; hyperinsulinemia; obesity, visceral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dyskinesia, drug-induced; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dyskinesia, drug-induced; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term obesity in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Obesity (early onset extreme) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Obesity (early onset extreme) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Obesity and blood pressure Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Obesity and blood pressure phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Obesity (extreme) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Obesity (extreme) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Obesity and osteoporosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Obesity and osteoporosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Obesity-related traits Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Obesity-related traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
obesity Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease obesity in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
obesity Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the obesity phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
obesity Gene SetFrom HPO Gene-Disease Associations genes associated with the obesity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
childhood-onset truncal obesity Gene SetFrom HPO Gene-Disease Associations genes associated with the childhood-onset truncal obesity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
truncal obesity Gene SetFrom HPO Gene-Disease Associations genes associated with the truncal obesity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Obesity Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Obesity phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Obesity, Morbid Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Obesity, Morbid phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
increased susceptibility to age related obesity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased susceptibility to age related obesity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased susceptibility to age related obesity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to age related obesity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased susceptibility to diet-induced obesity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to diet-induced obesity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased susceptibility to diet-induced obesity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased susceptibility to diet-induced obesity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
{obesity, susceptibility to, bmiq11} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq11} phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, hyperphagia, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, hyperphagia, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
[obesity, resistance to] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [obesity, resistance to] phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, morbid, due to leptin receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, mild, early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, mild, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to, bmiq8} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq8} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
?obesity, hyperphagia, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?obesity, hyperphagia, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to, bmiq18} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq18} phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, morbid, due to leptin deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, early-onset, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, early-onset, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to, bmiq4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to, bmiq12} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq12} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to, bmiq10} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq10} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, late-onset} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, late-onset} phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity with impaired prohormone processing Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity with impaired prohormone processing phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, association with} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, association with} phenotype from the curated OMIM Gene-Disease Associations dataset. |
morbid obesity and spermatogenic failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the morbid obesity and spermatogenic failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, variation in} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, variation in} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, susceptibility to, bmiq7} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, susceptibility to, bmiq7} phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term obesity in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Gene Setproteins participating in the Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) pathway from the Reactome Pathways dataset. |
IL1 and megakaryotyces in obesity(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the IL1 and megakaryotyces in obesity(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
obesity, hyperphagic Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease obesity, hyperphagic from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Overweight And Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Overweight And Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pediatric Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pediatric Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Moderate Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Moderate Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypertrophic Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypertrophic Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Constitutional Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Constitutional Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Morbid Obesity And Spermatogenic Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Morbid Obesity And Spermatogenic Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypothalamic Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypothalamic Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Simple Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Simple Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Android Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Android Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gross Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gross Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Obesity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Overweight Or Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Overweight Or Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Adolescent Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adolescent Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Monogenic Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Monogenic Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Truncal Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Truncal Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Childhood-Onset Truncal Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Childhood-Onset Truncal Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Class I Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Class I Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
increased susceptibility to age related obesity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to age related obesity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptibility to diet-induced obesity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to diet-induced obesity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased susceptibility to diet-induced obesity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to diet-induced obesity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptibility to age related obesity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to age related obesity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
IL1 and megakaryocytes in obesity Gene SetFrom WikiPathways Pathways 2024 proteins participating in the IL1 and megakaryocytes in obesity pathway from the WikiPathways Pathways 2024 dataset. |
FTO obesity variant mechanism Gene SetFrom WikiPathways Pathways 2024 proteins participating in the FTO obesity variant mechanism pathway from the WikiPathways Pathways 2024 dataset. |
Defective ACTH causes obesity and POMCD Gene Setproteins participating in the Defective ACTH causes obesity and POMCD pathway from the Reactome Pathways 2024 dataset. |
Variant SLC6A14 may confer susceptibility towards obesity Gene Setproteins participating in the Variant SLC6A14 may confer susceptibility towards obesity pathway from the Reactome Pathways 2024 dataset. |
Obesity Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Obesity from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Obesity Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Obesity in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Obesity Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Obesity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Morbid obesity Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Morbid obesity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Truncal obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Truncal obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inherited obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inherited obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Morbid obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Morbid obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to leptin receptor gene deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Monogenic Non-Syndromic Obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Monogenic Non-Syndromic Obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to pro-opiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to melanocortin 4 receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to SIM1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to prohormone convertase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to congenital leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to CEP19 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal dystrophy and obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal dystrophy and obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Serum C-reactive protein concentration in obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum C-reactive protein concentration in obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Serum C-reactive protein concentration in visceral obesity (waist-hip ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum C-reactive protein concentration in visceral obesity (waist-hip ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Serum C-reactive protein concentration in visceral obesity (waist circumference) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum C-reactive protein concentration in visceral obesity (waist circumference) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity (extreme) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity (extreme) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity in adult survivors of childhood cancer exposed to cranial radiation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity in adult survivors of childhood cancer exposed to cranial radiation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity in adult survivors of childhood cancer not exposed to cranial radiation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity in adult survivors of childhood cancer not exposed to cranial radiation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Protein level change in low calorie diet obesity intervention Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Protein level change in low calorie diet obesity intervention phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Protein levels in obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Protein levels in obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity-related traits Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity-related traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Type 2 diabetes (young onset) and obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Type 2 diabetes (young onset) and obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hepatic lipid content in extreme obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hepatic lipid content in extreme obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bilirubin levels in extreme obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bilirubin levels in extreme obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity (early onset extreme) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity (early onset extreme) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Metabolically unhealthy in obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Metabolically unhealthy in obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hyperinsulinemia in obesity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hyperinsulinemia in obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity and osteoporosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity and osteoporosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obesity (extreme) (SNP x SNP interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obesity (extreme) (SNP x SNP interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mild obesity-related type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mild obesity-related type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome 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. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 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. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Branchiootic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sjögren-Larsson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UV-sensitive syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Char syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PTEN hamartoma tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lesch-Nyhan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mohr-Tranebjaerg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopenic nonfracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 2q32-q33 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borrone Di Rocco Crovato syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hurler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hajdu-Cheney syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy preaxial brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bannayan-Riley-Ruvalcaba syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chudley-McCullough syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bosch-boonstra-schaaf optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frank Ter Haar syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Androgen resistance syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holt-Oram syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Young Simpson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meier-Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane-radial ray syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa-corneal clouding-oligophrenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TNF receptor-associated periodic fever syndrome (TRAPS) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 1q43-q44 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roberts-SC phocomelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rienhoff syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kohlschutter's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebro-oculo-facio-skeletal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wiskott-Aldrich syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyper-IgE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamstorp-Wohlfart syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyaline fibromatosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Richieri Costa Pereira syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome 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. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) 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. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Costello syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky Pudlak syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jankovic Rivera syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi-Bickel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith-Lemli-Opitz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, X-linked recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenomatous polyposis coli:Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XFE progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Johanson-Blizzard syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 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. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pierson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tricho-dento-osseous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mowat-Wilson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Keutel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Segawa syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple pterygium syndrome Escobar type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stiff skin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall/Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schwartz Jampel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Grebe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Floating-Harbor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osler hemorrhagic telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wieacker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primrose syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brittle cornea syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocallosal syndrome, Schinzel type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gray platelet syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardio-facio-cutaneous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ohdo syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, idiopathic, steroid-resistant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes-Brocks-branchiootorenal-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SeSAME syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lowe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone marrow failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Allan-Herndon-Dudley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arterial tortuosity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brown-vialetto-van laere syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peters plus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |