| Name |
|---|
CTD Gene-Disease Associations DatasetFrom Comparative Toxicogenomics Database Disease-gene interactions from manually curated literature |
DISEASES Curated Gene-Disease Association Evidence Scores Dataset (Archived)From DISEASES Disease gene evidence scores by manual literature curation |
DISEASES Experimental Gene-Disease Association Evidence Scores Dataset (Archived)From DISEASES Disease gene evidence scores by integrating experimental data (GWAS) |
DISEASES Text-mining Gene-Disease Association Evidence Scores Dataset (Archived)From DISEASES Gene-disease co-occurrence scores from text-mining biomedical abstracts |
GAD Gene-Disease Associations DatasetFrom Genetic Association Database Gene-disease associations curated from genetic association studies |
GAD High Level Gene-Disease Associations DatasetFrom Genetic Association Database Gene-disease associations curated from genetic association studies |
GWASdb SNP-Disease Associations DatasetFrom GWASdb SNP-disease association p-values curated from published GWAS |
HPO Gene-Disease Associations DatasetPhenotype-causing gene mutations of human phenotypes from disease knowledgebases |
OMIM Gene-Disease Associations DatasetFrom Online Mendelian Inheritance in Man Disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications |
PhosphoSitePlus Phosphosite-Disease Associations DatasetFrom PhosphoSitePlus Disease-phosphosite associations curated from literature |
DisGeNET Gene-Disease Associations DatasetFrom DisGeNET Gene-disease associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 DatasetFrom DISEASES Disease gene evidence scores by manual literature curation |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 DatasetFrom DISEASES Disease gene evidence scores by integrating experimental data (GWAS) |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 DatasetFrom DISEASES Gene-disease co-occurrence scores from text-mining biomedical abstracts |
LGALS17A GeneCharcot-Leyden crystal protein pseudogene |
CLC GeneCharcot-Leyden crystal galectin Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] |
CLCP1 GeneCharcot-Leyden crystal protein pseudogene 1 |
CLCP2 GeneCharcot-Leyden crystal protein pseudogene 2 |
PKHD1L1 Genepolycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025] |
PKHD1 Genepolycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] |
OPA6 Geneoptic atrophy 6 (autosomal recessive) |
OPA3 Geneoptic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
SPG27 Genespastic paraplegia 27 (autosomal recessive) |
SPG25 Genespastic paraplegia 25 (autosomal recessive, with disc herniation) |
SPG24 Genespastic paraplegia 24 (autosomal recessive) |
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] |
SPG23 Genespastic paraplegia 23 (autosomal recessive) |
MRT28 Genemental retardation, non-syndromic, autosomal recessive, 28 |
MRT29 GeneMental retardation, autosomal recessive 29 |
MRT24 Genemental retardation, non-syndromic, autosomal recessive, 24 |
MRT23 Genemental retardation, non-syndromic, autosomal recessive, 23 |
DFNB45 Genedeafness, autosomal recessive 45 |
MRT10 Genemental retardation, non-syndromic, autosomal recessive, 10 |
DFNB20 Genedeafness, autosomal recessive 20 |
DFNB26 Genedeafness, autosomal recessive 26 |
DFNB27 Genedeafness, autosomal recessive 27 |
MYP18 Genemyopia 18 (high grade, autosomal recessive) This locus was identified by linkage in one consanguineous Chinese family to lie between D14S984 and D14S999. [provided by RefSeq, Feb 2010] |
CMR2A Genecardiomyopathy, restrictive 2A (autosomal recessive) |
HOAC Genehypoacusis 2 (autosomal recessive) |
MRT17 Genemental retardation, non-syndromic, autosomal recessive, 17 |
MRT16 GeneMental retardation, autosomal recessive 16 |
MRT11 Genemental retardation, non-syndromic, autosomal recessive, 11 |
MRT19 Genemental retardation, non-syndromic, autosomal recessive, 19 |
DFNB75 Genedeafness, autosomal recessive 75 |
SCAR2 Genespinocerebellar ataxia, autosomal recessive 2 |
SCAR3 Genespinocerebellar ataxia, autosomal recessive 3 |
DFNB81 Genedeafness, autosomal recessive 81 |
CTRCT34 GeneCataract, autosomal recessive congenital 3 |
CTRCT35 Genecataract, congenital nuclear, autosomal recessive |
MRT8 Genemental retardation, non-syndromic, autosomal recessive, 8 |
MRT9 Genemental retardation, non-syndromic, autosomal recessive, 9 |
SPG45 Genespastic paraplegia 45 (autosomal recessive) |
SPG7 Genespastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014] |
DFNB62 Genedeafness, autosomal recessive 62 |
DFNB60 Genedeafness, autosomal recessive 60 |
DFNB68 Genedeafness, autosomal recessive 68 |
DFNB69 Genedeafness, autosomal recessive 69 |
SPG11 Genespastic paraplegia 11 (autosomal recessive) The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
DYT2 Genedystonia 2, torsion (autosomal recessive) |
MRT25 Genemental retardation, non-syndromic, autosomal recessive, 25 |
MRT4 Genemental retardation, non-syndromic, autosomal recessive, 4 |
DFNB85 Genedeafness, autosomal recessive 85 This locus was defined by homozygosity mapping in a kindred of 42 enrolled individuals, between FAM18B2 and NF1. [provided by RefSeq, Feb 2010] |
DFNB83 Genedeafness, autosomal recessive 83 This locus, identified by homozygosity mapping, overlaps that of DFNA47. It may be that mutations of the same gene are responsible for recessive and dominant hearing loss. [provided by RefSeq, Feb 2010] |
SPG14 Genespastic paraplegia 14 (autosomal recessive) |
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] |
MRT33 GeneMental retardation, autosomal recessive 33 |
MRT32 GeneMental retardation, autosomal recessive 32 |
MRT31 GeneMental retardation, autosomal recessive 31 |
MRT30 GeneMental retardation, autosomal recessive 30 |
MRT35 GeneMental retardation, autosomal recessive 35 |
MRT27 Genemental retardation, non-syndromic, autosomal recessive, 27 |
DFNB59 Genedeafness, autosomal recessive 59 The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008] |
DFNB57 Genedeafness, autosomal recessive 57 |
DFNB56 Genedeafness, autosomal recessive 56 |
DFNB55 Genedeafness, autosomal recessive 55 |
ECB2 Geneerythrocytosis, autosomal recessive benign 2 |
RP22 Generetinitis pigmentosa 22 (autosomal recessive) |
RP29 Generetinitis pigmentosa 29 (autosomal recessive) |
MHB Genemyopathy, hyaline body, autosomal recessive |
ICR3 Geneichthyosis congenita III, vulgaris-like recessive ichthyosis |
CIRH1A Genecirrhosis, autosomal recessive 1A (cirhin) This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
RP32 Generetinitis pigmentosa 32 (autosomal recessive) |
DFNB66 Genedeafness, autosomal recessive 66 |
DFNB65 Genedeafness, autosomal recessive 65 |
DFNM1 Genedeafness (recessive, nonsyndromic) modifier 1 |
DFNB58 Genedeafness, autosomal recessive 58 |
DFNB50 Genedeafness, autosomal recessive 50 |
DFNB71 Genedeafness, autosomal recessive 71 |
USH1K GeneUsher syndrome 1K (autosomal recessive) |
SMAR GeneSpinal muscular atrophy, chronic distal, autosomal recessive |
DFNB5 Genedeafness, autosomal recessive 5 |
SPAX3 GeneAtaxia, spastic, 3, autosomal recessive |
DFNB38 Genedeafness, autosomal recessive 38 |
DFNB31 Genedeafness, autosomal recessive 31 This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] |
DFNB33 Genedeafness, autosomal recessive 33 |
DFNB32 Genedeafness, autosomal recessive 32 |
DFNB34 Genedeafness, autosomal recessive 34 |
DFNB19 Genedeafness, autosomal recessive 19 |
DFNB44 Genedeafness, autosomal recessive 44 |
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) |
DFNB43 Genedeafness, autosomal recessive 43 |
DFNB46 Genedeafness, autosomal recessive 46 |
CTPL1 Genecataract, pulverulent (autosomal recessive, early-onset) |
DFNB40 Genedeafness, autosomal recessive 40 |
DFNB47 Genedeafness, autosomal recessive 47 |
SPG32 Genespastic paraplegia 32 (autosomal recessive) |
DFNB51 Genedeafness, autosomal recessive 51 |
OA3 Geneocular albinism 3 (autosomal recessive) |
MCOP1 Genemicrophthalmia, autosomal recessive |
SPG5B Genespastic paraplegia 5B (autosomal recessive) |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
DFNB13 Genedeafness, autosomal recessive 13 |
DFNB17 Genedeafness, autosomal recessive 17 |
DFNB14 Genedeafness, autosomal recessive 14 |
HYD2 Genehypodontia 2 (autosomal recessive) |
OCA5 Geneoculocutaneous albinism 5 (autosomal recessive) |
DFNB96 Genedeafness, autosomal recessive 96 |
RDPA Generefsum disease, adult, with increased pipecolicacidemia |
NPC2 GeneNiemann-Pick disease, type C2 This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008] |
NPC1 GeneNiemann-Pick disease, type C1 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] |
GRD2 GeneGraves disease, susceptibility to, 2 |
GRD1 GeneGraves disease, susceptiblity to, 1 |
COPD14 GeneChronic obstructive pulmonary disease QTL 14 |
PDDC1 GeneParkinson disease 7 domain containing 1 Predicted to enable glyoxalase III activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
CELIAC8 GeneCeliac disease, susceptibility to, 8 |
CELIAC2 Geneceliac disease 2 |
CELIAC5 GeneCeliac disease, susceptibility to, 5 |
CELIAC6 GeneCeliac disease, susceptibility to, 6 |
CELIAC7 GeneCeliac disease, susceptibility to, 7 |
AIS4 Geneautoimmune disease, susceptibility to, 4 |
COPD3 GeneChronic obstructive pulmonary disease QTL 3 |
COPD2 GeneChronic obstructive pulmonary disease QTL 2 |
COPD1 GeneChronic obstructive pulmonary disease QTL 1 |
COPD6 GeneChronic obstructive pulmonary disease QTL 6 |
COPD5 GeneChronic obstructive pulmonary disease QTL 5 |
COPD4 GeneChronic obstructive pulmonary disease QTL 4 |
COPD8 GeneChronic obstructive pulmonary disease QTL 8 |
BED GeneBornholm eye disease |
PKD1P1 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 1 |
PKD1P2 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 2 |
PKD1P3 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 3 |
PKD1P4 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 4 |
PKD1P5 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 5 |
PKD1P6 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 6 |
PKD3 Genepolycystic kidney disease 3 (autosomal dominant) |
PKD2 Genepolycystic kidney disease 2 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011] |
PKD1 Genepolycystic kidney disease 1 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] |
OED GeneOregon eye disease |
CHDS4 GeneCoronary heart disease, susceptibility to, 4 |
GBD3 Genegallbladder disease 3 |
PDB6 GenePaget disease of bone 6 |
PDB4 GenePaget disease of bone 4 |
PDB5 GenePaget disease of bone 5 |
PDB1 GenePaget disease of bone 1 |
IBD9 Geneinflammatory bowel disease 9 |
IBD8 Geneinflammatory bowel disease 8 |
IBD3 Geneinflammatory bowel disease 3 |
IBD2 Geneinflammatory bowel disease 2 |
IBD5 Geneinflammatory bowel disease 5 |
IBD4 Geneinflammatory bowel disease 4 |
IBD7 Geneinflammatory bowel disease 7 |
IBD6 Geneinflammatory bowel disease 6 |
COPD17 GeneChronic obstructive pulmonary disease QTL 17 |
GBD2 Genegallbladder disease 2 |
PAOD1 GenePeripheral arterial occlusive disease 1 |
COPD7 GeneChronic obstructive pulmonary disease QTL 7 |
COPD9 GeneChronic obstructive pulmonary disease QTL 9 |
DDD3 GeneDowling-Degos disease 3 |
NAFLD2 GeneFatty liver disease, nonalcoholic, susceptibility to, 2 |
NAFLD1 GeneFatty liver disease 1, susceptiblity to |
EPM2A Geneepilepsy, progressive myoclonus type 2A, Lafora disease (laforin) This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018] |
PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
AITD2 GeneAutoimmune thyroid disease, susceptibility to, 2 |
AITD1 GeneAutoimmune thyroid disease, susceptibility to, 1 |
AITD4 GeneAutoimmune thyroid disease, susceptibility to, 4 |
KWE Genekeratolytic winter erythema (Oudtshoorn skin disease) |
LOC613206 Genemyeloproliferative disease associated tumor antigen 5 |
RMD1 Generippling muscle disease 1 |
AD10 GeneAlzheimer disease-10 |
AD11 GeneAlzheimer disease-11 |
AD12 GeneAlzheimer disease 12 |
AD13 GeneAlzheimer disease-13 |
AD14 GeneAlzheimer disease 14 |
AD16 GeneAlzheimer disease 16 |
AD17 GeneAlzheimer disease 17 |
PKD1L1 Genepolycystic kidney disease 1 like 1 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] |
PKD1L2 Genepolycystic kidney disease 1-like 2 (gene/pseudogene) This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022] |
PKD1L3 Genepolycystic kidney disease 1-like 3 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] |
HDPA GeneHodgkin disease, susceptibility, pseudoautosomal |
AD6 GeneAlzheimer disease 6 |
AD7 GeneAlzheimer disease 7 |
AD5 GeneAlzheimer disease 5 |
AD8 GeneAlzheimer disease 8 |
AD9 GeneAlzheimer disease 9 |
PARK16 GeneParkinson disease 16 (susceptibility) |
PARK10 GeneParkinson disease 10 (susceptibility) |
PARK12 GeneParkinson disease 12 (susceptibility) |
HSCR9 GeneHirschsprung disease, susceptibility to, 9 |
HSCR8 GeneHirschsprung disease modifier 2 |
HSCR5 GeneHirschsprung disease, susceptibility to, 5 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011] |
HSCR7 GeneHirschsprung disease, short-segment, 3 |
HSCR6 GeneHirschsprung disease, short-segment, 2 |
IBD27 GeneInflammatory bowel disease-27 |
IBD20 GeneInflammatory bowel disease-20 |
IBD21 GeneInflammatory bowel disease-21 |
IBD22 GeneInflammatory bowel disease-22 |
IBD23 GeneInflammatory bowel disease-23 |
IBD24 GeneInflammatory bowel disease-24 |
IBD25 GeneInflammatory bowel disease-25 |
IBD26 GeneInflammatory bowel disease-26 |
CCAL1 Genechondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) |
PARK3 GeneParkinson disease 3 (autosomal dominant, Lewy body) |
CELIAC9 GeneCeliac disease, susceptibility to, 9 |
CTD GeneCoats disease |
AD15 GeneAlzheimer disease-15 |
COPD13 GeneChronic obstructive pulmonary disease QTL 13 |
COPD12 GeneChronic obstructive pulmonary disease QTL 12 |
COPD11 GeneChronic obstructive pulmonary disease QTL 11 |
COPD10 GeneChronic obstructive pulmonary disease QTL 10 |
COPD16 GeneChronic obstructive pulmonary disease QTL 16 |
COPD15 GeneChronic obstructive pulmonary disease QTL 15 |
COPD19 GeneChronic obstructive pulmonary disease QTL 19 |
COPD18 GeneChronic obstructive pulmonary disease QTL 18 |
MYMY1 Genemoyamoya disease 1 |
MYMY3 Genemoyamoya disease 3 |
MYMY4 GeneMoyamoya disease 4 |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
CHDS3 GeneCoronary heart disease, susceptibility to, 3 |
CHDS2 GeneCoronary heart disease, susceptibility to, 2 |
CHDS1 GeneCoronary heart disease, susceptibility to, 1 |
CHDS9 GeneCoronary heart disease, suscpetibility to, 9 |
CHDS8 GeneCoronary heart disease, susceptibility to, 8 |
IBD11 GeneInflammatory bowel disease 11 |
IBD12 GeneInflammatory bowel disease 12 |
IBD15 GeneInflammatory bowel disease-15 |
IBD16 GeneInflammatory bowel disease-16 |
IBD19 GeneInflammatory bowel disease 19 |
IBD18 GeneInflammatory bowel disease-18 |
NDP GeneNorrie disease (pseudoglioma) This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009] |
PKD2L2 Genepolycystic kidney disease 2-like 2 Predicted to enable calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
PKD2L1 Genepolycystic kidney disease 2-like 1 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
COPD28 GeneChronic obstructive pulmonary disease QTL 28 |
COPD29 GeneChronic obstructive pulmonary disease QTL 29 |
COPD22 GeneChronic obstructive pulmonary disease QTL 22 |
COPD23 GeneChronic obstructive pulmonary disease QTL 23 |
COPD20 GeneChronic obstructive pulmonary disease QTL 20 |
COPD21 GeneChronic obstructive pulmonary disease QTL 21 |
COPD26 GeneChronic obstructive pulmonary disease QTL 26 |
COPD27 GeneChronic obstructive pulmonary disease QTL 27 |
COPD24 GeneChronic obstructive pulmonary disease QTL 24 |
COPD25 GeneChronic obstructive pulmonary disease QTL 25 |
CELIAC12 GeneCeliac disease, susceptibility to, 12 |
CELIAC13 GeneCeliac disease, susceptibility to, 13 |
CELIAC10 GeneCeliac disease, susceptibility to, 10 |
CELIAC11 GeneCeliac disease, susceptibility to, 11 |
charcot-marie-tooth disease, x-linked recessive, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, x-linked recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
addison disease; addison's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; hashimoto disease; polyendocrinopathies, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; addison's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; hashimoto disease; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus; hypertension; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; granuloma; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; granuloma; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; crohn disease; crohn's disease; diabetes mellitus; disease; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; crohn disease; crohn's disease; diabetes mellitus; disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; graves disease; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; graves disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; disease susceptibility Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; multiple system atrophy; nervous system diseases; parkinson disease; polyradiculoneuropathy, chronic inflammatory demyelinating; tauopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; multiple system atrophy; nervous system diseases; parkinson disease; polyradiculoneuropathy, chronic inflammatory demyelinating; tauopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; autoimmune diseases; graves disease; hashimoto disease; thyroid diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; autoimmune diseases; graves disease; hashimoto disease; thyroid diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cardiovascular diseases; chronic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; chronic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinsons disease; alzheimers disease; ataxia; huntingtons disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinsons disease; alzheimers disease; ataxia; huntingtons disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; colorectal neoplasms; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; colorectal neoplasms; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; dementia; dementia, vascular; lewy body disease; pick disease of the brain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; dementia; dementia, vascular; lewy body disease; pick disease of the brain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; hashimoto disease; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; hashimoto disease; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; dementia, vascular; lewy body disease; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular; lewy body disease; neurodegenerative diseases 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. |
arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; graves disease; graves' disease; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; graves disease; graves' disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colitis; crohn disease; crohn's disease; disease models, animal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colitis; crohn disease; crohn's disease; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammation; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammation; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; graft vs host disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; graft vs host disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Autosomal recessive hypophosphatemic bone disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory bowel disease 25, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory bowel disease 25, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinson disease 6, autosomal recessive early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Parkinson disease 6, autosomal recessive early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset. |
Inflammatory Bowel Disease 25, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inflammatory Bowel Disease 25, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset. |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset. |
Parkinson Disease 6, Autosomal Recessive Early-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinson Disease 6, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset. |
Inflammatory Bowel Disease 28, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inflammatory Bowel Disease 28, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Parkinson Disease 7, Autosomal Recessive Early-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinson Disease 7, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset. |
autosomal recessive disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease autosomal recessive disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
autosomal recessive disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease autosomal recessive disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
autosomal recessive disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal recessive disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autosomal recessive disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease autosomal recessive disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
inflammatory bowel disease 25, early onset, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the inflammatory bowel disease 25, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinson disease 15, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinson disease 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
inflammatory bowel disease 28, early onset, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the inflammatory bowel disease 28, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinson disease 7, autosomal recessive early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinson disease 7, autosomal recessive early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
Autosomal Recessive Polycystic Kidney Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Polycystic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Albers-Schonberg Disease, Autosomal Recessive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Albers-Schonberg Disease, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Chronic Granulomatous Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Chronic Granulomatous Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Central Core Disease, Autosomal Recessive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Core Disease, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal recessive disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive polycystic kidney disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive polycystic kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive chronic granulomatous disease 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive chronic granulomatous disease 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive chronic granulomatous disease 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive chronic granulomatous disease 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive chronic granulomatous disease 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive chronic granulomatous disease 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive chronic granulomatous disease 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive chronic granulomatous disease 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive hypophosphatemic bone disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive early-onset Parkinson disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive early-onset Parkinson disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive polycystic kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive polycystic kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive Parkinson disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive Parkinson disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive juvenile Parkinson disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive juvenile Parkinson disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PKD1-Biallelic Autosomal Recessive Polycystic Kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PKD1-Biallelic Autosomal Recessive Polycystic Kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recessive ARS-related multisystem disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recessive ARS-related multisystem disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive PIEZO2 associated disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive PIEZO2 associated disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
charcot Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term charcot in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Charcot Gait Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Charcot Gait in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
crohn disease; crohn's disease; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; melanoma; skin neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; melanoma; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart disease, ischemic; peripheral arterial disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart disease, ischemic; peripheral arterial disease 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. |
coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; dementia, vascular; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; hashimoto disease; hyperthyroidism; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease; hyperthyroidism; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute coronary syndrome; atherosclerosis; coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute coronary syndrome; atherosclerosis; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; granuloma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; granuloma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver disease; wilson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver disease; wilson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic obstructive pulmonary disease/copd; bronchiectatic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic obstructive pulmonary disease/copd; bronchiectatic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; dna damage; genomic instability Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; dna damage; genomic instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hemochromatosis; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hemochromatosis; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinson's disease ; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinson's disease ; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart disease, ischemic; cerebrovascular disease, ischemic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart disease, ischemic; cerebrovascular disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial fibrillation; blood loss, surgical; coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial fibrillation; blood loss, surgical; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetic angiopathies; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetic angiopathies; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; duodenal diseases; stomach diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; duodenal diseases; stomach diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; sarcoidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; sarcoidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison's disease; graves' disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison's disease; graves' disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
kidney disease; vascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease kidney disease; vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; brain ischemia; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; brain ischemia; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves ophthalmopathy; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves ophthalmopathy; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol amnestic disorder; alcoholism; alzheimer disease; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol amnestic disorder; alcoholism; alzheimer disease; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 1; addison's disease; graves' disease; thyroiditis, chronic lymphocytic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 1; addison's disease; graves' disease; thyroiditis, chronic lymphocytic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; olfaction disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; olfaction disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; encephalitis, herpes simplex; herpes encephalitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; encephalitis, herpes simplex; herpes encephalitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileal diseases; intestinal fistula; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileal diseases; intestinal fistula; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; myocardial ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; autoimmune diseases; graves disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; autoimmune diseases; graves disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarct; crohn's disease; asthma; malaria; malaria infection; kawasaki disease; psoriasis vulgaris; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarct; crohn's disease; asthma; malaria; malaria infection; kawasaki disease; psoriasis vulgaris; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; mercury poisoning, nervous system Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; mercury poisoning, nervous system in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; diabetes mellitus; hypercholesterolemia; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; diabetes mellitus; hypercholesterolemia; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; dementia; neurodegenerative diseases; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; dementia; neurodegenerative diseases; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
constriction, pathologic; crohn disease; crohn's disease; intestinal fistula; intestinal obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease constriction, pathologic; crohn disease; crohn's disease; intestinal fistula; intestinal obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; vascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy; cerebral infarction; vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy; cerebral infarction; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; colitis, ulcerative; crohn disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; colitis, ulcerative; crohn disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult-onset still disease; still's disease, adult-onset Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult-onset still disease; still's disease, adult-onset in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases 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. |
graft vs host disease; hematologic neoplasms; inflammatory bowel disease, nos; inflammatory bowel diseases; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graft vs host disease; hematologic neoplasms; inflammatory bowel disease, nos; inflammatory bowel diseases; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; thromboembolism; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; thromboembolism; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; central nervous system diseases; parkinson disease; parkinsonian disorders; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; central nervous system diseases; parkinson disease; parkinsonian disorders; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amnesia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amnesia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypertriglyceridemia; pregnancy complications; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypertriglyceridemia; pregnancy complications; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; coronary disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; coronary disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular disease; cerebrovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular disease; cerebrovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; cholelithiasis; colitis; crohn disease; crohn's disease; erythema nodosum Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; cholelithiasis; colitis; crohn disease; crohn's disease; erythema nodosum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; brain ischemia; cardiovascular diseases; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; brain ischemia; cardiovascular diseases; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gaucher disease; nervous system diseases; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gaucher disease; nervous system diseases; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; metabolic diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; metabolic diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; coronary restenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; coronary restenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction; postoperative complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; osteomyelitis; unspecified osteomyelitis nos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; osteomyelitis; unspecified osteomyelitis nos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graft-versus-host disease; psoriasis; celiac disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graft-versus-host disease; psoriasis; celiac disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease parkinson's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease parkinson's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; colonic neoplasms; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; colonic neoplasms; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; disorders of excessive somnolence; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; disorders of excessive somnolence; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebrovascular disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebrovascular disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cardiovascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart disease, ischemic; peripheral vascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart disease, ischemic; peripheral vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris; coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; drug toxicity; edema; nasopharyngitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; drug toxicity; edema; nasopharyngitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; spondylitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; spondylitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; gastrointestinal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; gastrointestinal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gaucher disease; legg-perthes disease; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gaucher disease; legg-perthes disease; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn's disease; ulcerative colitis; inflammatory bowel disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn's disease; ulcerative colitis; inflammatory bowel disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; glaucoma, open-angle Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; postoperative complications; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; postoperative complications; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; inflammation; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; inflammation; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular disease; periodontal disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular disease; periodontal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; crohn disease; crohn's disease; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; crohn disease; crohn's disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; coronary disease; coronary heart disease; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; coronary disease; coronary heart disease; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; heart failure; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; heart failure; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; dyslipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; osteoporosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; disease susceptibility Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; disease susceptibility; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; disease susceptibility; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypertriglyceridemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; addison's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; addison's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; down syndrome; olfaction disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; down syndrome; olfaction disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; mucocutaneous lymph node syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; mucocutaneous lymph node syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hypercholesterolemia; hyperlipoproteinemia type ii Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hypercholesterolemia; hyperlipoproteinemia type ii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; stroke; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; stroke; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; carotid artery diseases; coronary disease; coronary heart disease; coronary restenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; carotid artery diseases; coronary disease; coronary heart disease; coronary restenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; rheumatoid spondylitis; spondylitis, ankylosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; rheumatoid spondylitis; spondylitis, ankylosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; ileal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; ileal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; insulin; lung function; depression; longevity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; insulin; lung function; depression; longevity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinsons disease; alzheimers disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinsons disease; alzheimers disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; cardiovascular diseases; coronary disease; disease models, animal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; cardiovascular diseases; coronary disease; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; coronary disease; coronary heart disease; degenerative arthropathy ; diabetes mellitus; hyperparathyroidism; neoplasms; osteoarthritis; osteoporosis, postmenopausal; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; coronary disease; coronary heart disease; degenerative arthropathy ; diabetes mellitus; hyperparathyroidism; neoplasms; osteoarthritis; osteoporosis, postmenopausal; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; coronary artery disease; hyperlipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; coronary artery disease; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; inflammation; myocardial infarction; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; inflammation; myocardial infarction; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; atrophy; dementia; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; atrophy; dementia; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; coronary disease; coronary heart disease; hypertension; insulin resistance; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; coronary disease; coronary heart disease; hypertension; insulin resistance; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cadaver; coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cadaver; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; arthritis; lupus erythematosus; inflammatory bowel disease; insulin; malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; arthritis; lupus erythematosus; inflammatory bowel disease; insulin; malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rheumatoid arthritis; crohn's disease; diabetes, type 1; celiac disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rheumatoid arthritis; crohn's disease; diabetes, type 1; celiac disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves ophthalmopathy; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves ophthalmopathy; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; arteriosclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; arteriosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; intestinal obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; intestinal obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; multiple system atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; multiple system atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
constriction, pathologic; crohn disease; crohn's disease; fibrosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease constriction, pathologic; crohn disease; crohn's disease; fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; dilatation, pathologic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; dilatation, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lewy body disease; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lewy body disease; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyloidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyloidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperlipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; brain infarction; cerebrovascular disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; brain infarction; cerebrovascular disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sanhoff disease; tay-sachs disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sanhoff disease; tay-sachs disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholangitis, sclerosing; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hypertension, portal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholangitis, sclerosing; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hypertension, portal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperhomocysteinemia; myocardial ischemia; recurrence; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; myocardial ischemia; recurrence; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; postoperative complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; fatigue; inflammation; occupational diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; fatigue; inflammation; occupational diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; postoperative complications; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; postoperative complications; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; delirium; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; delirium; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease/coronary artery disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease/coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; hallucinations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; hallucinations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; growth disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; growth disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves ophthalmopathy; graves' disease; thyroid associated opthalmopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves ophthalmopathy; graves' disease; thyroid associated opthalmopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; lewy body disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; lewy body disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; lewy body disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; lewy body disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperlipidemias; hyperlipoproteinemia type i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperlipidemias; hyperlipoproteinemia type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary heart disease; myocardial infarction; stroke; cerebrovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary heart disease; myocardial infarction; stroke; cerebrovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; myocardial infarction; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; myocardial infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; periodontal pocket; periodontitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; periodontal pocket; periodontitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; addison's disease; autoimmune diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; addison's disease; autoimmune diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; lupus erythematosus, systemic; systemic lupus erythematosus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; lupus erythematosus, systemic; systemic lupus erythematosus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; atrophy; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; atrophy; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; heart failure; inflammation; ventricular dysfunction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; heart failure; inflammation; ventricular dysfunction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
creutzfeldt-jakob disease; gerstmann-straussler-scheinker disease; insomnia, fatal familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease creutzfeldt-jakob disease; gerstmann-straussler-scheinker disease; insomnia, fatal familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; colitis, ulcerative; crohn disease; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; colitis, ulcerative; crohn disease; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; chronic obstructive pulmonary disease/copd Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroid disease; thyroid disease, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroid disease; thyroid disease, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; genetic predisposition to disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; atherosclerosis; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; atherosclerosis; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; neural tube defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke 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. |
alzheimer disease; alzheimer's disease; cerebrovascular disorders; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebrovascular disorders; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetic cardiomyopathies; myocardial ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetic cardiomyopathies; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; drug-induced liver injury; liver diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; drug-induced liver injury; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic angiopathies; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic angiopathies; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; cutaneous fistula; rectal fistula Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; cutaneous fistula; rectal fistula in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriosclerosis; autoimmune diseases; coronary disease; coronary heart disease; hypertension; lupus erythematosus, systemic; systemic lupus erythematosus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriosclerosis; autoimmune diseases; coronary disease; coronary heart disease; hypertension; lupus erythematosus, systemic; systemic lupus erythematosus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatic diseases; rheumatism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatic diseases; rheumatism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; graves disease; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; graves disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; spondylarthropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; spondylarthropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; lipid metabolism, inborn errors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Crohn's disease and celiac disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Crohn's disease and celiac disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Cardiovascular Disease+Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiovascular Disease+Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Kidney disease (end stage renal disease vs normoalbuminuria) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (end stage renal disease vs normoalbuminuria) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Parkinson's disease or first degree relation to individual with Parkinson's disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Parkinson's disease or first degree relation to individual with Parkinson's disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Alzheimer's disease or family history of Alzheimer's disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Alzheimer's disease or family history of Alzheimer's disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Crohn's disease and celiac disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Crohn's disease and celiac disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (reduced eGFR or end stage renal disease) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (reduced eGFR or end stage renal disease) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (end stage renal disease vs. normal eGFR) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (end stage renal disease vs. normal eGFR) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ocular coloboma, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ocular coloboma, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 12, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 12, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Agammaglobulinemia 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 101 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 101 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 103 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 103 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive cutis laxa type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auditory neuropathy, autosomal recessive, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auditory neuropathy, autosomal recessive, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercholesterolemia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercholesterolemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 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. |
Mental retardation, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectopia lentis, isolated autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectopia lentis, isolated autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary hypertrophic osteoarthropathy, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 37 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 37 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 35 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 35 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 39 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis, autosomal recessive 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 46, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 46, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 48, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 48, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tetraamelia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tetraamelia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 29 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thyroid hormone resistance, generalized, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thyroid hormone resistance, generalized, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta, recessive perinatal lethal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta, recessive perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 59 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 59 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoglobinuria, acute recurrent, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 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. |
Spinocerebellar ataxia autosomal recessive 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, autosomal recessive congenital 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 54, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 54, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia, spastic, 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia, spastic, 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 10, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Heterotopia, periventricular, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Heterotopia, periventricular, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Persistent hyperplastic primary vitreous, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 11, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 11, autosomal recessive 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. |
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. |
Spastic paraplegia 57, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 57, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 102 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 102 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 72, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 72, autosomal recessive 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. |
Myopia 23, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopia 23, autosomal recessive 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. |
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. |
Deafness, autosomal recessive 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 44, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 44, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic ataxia 5, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Indifference to pain, congenital, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal degeneration, autosomal recessive, clumped pigment type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa simplex, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 18b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 18b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 55, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 9 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. |
Mental retardation, autosomal recessive 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 63, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 63, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal recessive form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 91 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 91 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 84b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 84b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polymicrogyria, bilateral perisylvian, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polymicrogyria, bilateral perisylvian, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive with axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive Dejerine-Sottas syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 39 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 86 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 86 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 81 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 81 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculodentodigital dysplasia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 89 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 89 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 88 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 88 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Recessive dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Recessive dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 48 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohypoaldosteronism type 1 autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism type 1 autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 38 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sclerocornea, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sclerocornea, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 56, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 56, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 34 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 53 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 53 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 30, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 30, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica inversa, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyskeratosis congenita, autosomal recessive, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dyskeratosis congenita, autosomal recessive, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Agammaglobulinemia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Agammaglobulinemia 7, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 7, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia, spastic, 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia, spastic, 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia autosomal recessive 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 42 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 44 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 45, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 45, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 31 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 31 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 47 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis autosomal recessive 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis autosomal recessive 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis autosomal recessive 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 76 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 76 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 77 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 77 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 74 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 74 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 70 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 70 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 79 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 79 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive cutis laxa type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive cutis laxa type IA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 61 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 61 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 63 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 67 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 67 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive cutis laxa type 3B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 11, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 11, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with chorioretinopathy, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with chorioretinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 40 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 41 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 42 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 43 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 44 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 45 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 46 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bestrophinopathy, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bestrophinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 9, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 9, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal spinal muscular atrophy, autosomal recessive 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypophosphatemic rickets, autosomal recessive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 13, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic paraplegia 20, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 20, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 1b Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 1b from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 32 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 32 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 1A from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 14 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 16 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 16 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 17 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 17 from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia 32, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 32, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis, Autosomal Recessive 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis, Autosomal Recessive 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 from the curated CTD Gene-Disease Associations dataset. |
Heterotopia, Periventricular, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heterotopia, Periventricular, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 67 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 67 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis with hypotrichosis, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 91 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 77 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 77 from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia type 5A, recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia type 5A, recessive from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 85 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 79 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 79 from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis, Autosomal Recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 33 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 33 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 31 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 31 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 37 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 37 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 35 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 35 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 38 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 38 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 39 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 39 from the curated CTD Gene-Disease Associations dataset. |
Sick Sinus Syndrome 1, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 83 from the curated CTD Gene-Disease Associations dataset. |
Ataxia, Spastic, 3, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia, Spastic, 3, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 40 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 40 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 46 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 46 from the curated CTD Gene-Disease Associations dataset. |
Candidiasis familial chronic mucocutaneous, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 44 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 44 from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia 7, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 7, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Hypercholesterolemia, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercholesterolemia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 26 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 26 from the curated CTD Gene-Disease Associations dataset. |
Indifference to Pain, Congenital, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Robinow syndrome, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 27 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 27 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 22 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 22 from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 8 from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia type 5B, recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia type 5B, recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 62 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 62 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 17, Torsion, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia 11, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 11, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive, 24 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive, 24 from the curated CTD Gene-Disease Associations dataset. |
Polycystic Kidney, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Kidney, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia, Autosomal Recessive 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia, Autosomal Recessive 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset. |
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia 44, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 44, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia 25, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 25, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Hyaline Body, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa, Autosomal Recessive, Type IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIA from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa, Autosomal Recessive, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia 15, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 15, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Cerebral Palsy, Ataxic, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 18A from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 74 from the curated CTD Gene-Disease Associations dataset. |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia 39, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 39, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 30 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 30 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 28 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 28 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 59 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 59 from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia-50, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia-50, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 84A from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia 14, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 14, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Alport syndrome, recessive type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport syndrome, recessive type from the curated CTD Gene-Disease Associations dataset. |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 25 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset. |
Cataract, Autosomal Recessive Congenital 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 2 from the curated CTD Gene-Disease Associations dataset. |
Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset. |
Cataract, Autosomal Recessive, Early-Onset, Pulverulent Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive, Early-Onset, Pulverulent from the curated CTD Gene-Disease Associations dataset. |
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 21 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 21 from the curated CTD Gene-Disease Associations dataset. |
Colorectal Adenomatous Polyposis, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BESTROPHINOPATHY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 4 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Myosclerosis, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myosclerosis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset. |
Deafness, autosomal recessive 51 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, autosomal recessive 51 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 6 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 12 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 68 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 68 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 5 from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 65 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 65 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Dyskeratosis Congenita, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Tetra-amelia autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tetra-amelia autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 53 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 53 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Simplex, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT from the curated CTD Gene-Disease Associations dataset. |
Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 47 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 47 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 49 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 49 from the curated CTD Gene-Disease Associations dataset. |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset. |
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia 27, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 27, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Oculodentodigital Dysplasia, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 42 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 42 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 71 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 71 from the curated CTD Gene-Disease Associations dataset. |
Deafness, autosomal recessive 55 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, autosomal recessive 55 from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 20 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 23 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 23 from the curated CTD Gene-Disease Associations dataset. |
Inclusion body myopathy autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Cutis laxa, recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis laxa, recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset. |
Segawa syndrome, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Segawa syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 63 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 63 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 66 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 66 from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia 18, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 18, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
autosomal recessive nonsyndromic deafness Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal recessive nonsyndromic deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
recessive retinitis pigmentosa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease recessive retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
recessive cone-rod dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease recessive cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
recessive Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term recessive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
autosomal recessive inheritance Gene SetFrom HPO Gene-Disease Associations genes associated with the autosomal recessive inheritance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Polycystic Kidney, Autosomal Recessive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, autosomal recessive, 9/26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene SetFrom OMIM Gene-Disease Associations genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset. |
scid, autosomal recessive, t-negative/b-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the scid, autosomal recessive, t-negative/b-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylocostal dysostosis 1, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 1, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 5a, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 5a, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myotonia levior, recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myotonia levior, recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy, distal, autosomal recessive, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy, distal, autosomal recessive, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 74 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 74 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylocostal dysostosis 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spinocerebellar ataxia, autosomal recessive 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spinocerebellar ataxia, autosomal recessive 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 18a Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 18a phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 18b Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 18b phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, nonspecific, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
weill-marchesani syndrome 3, recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the weill-marchesani syndrome 3, recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
l-ferritin deficiency, dominant and recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 11, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 18, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 40 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 44 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hydrocephalus, nonsyndromic, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 32, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 32, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 51 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 51 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 53 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 53 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 55 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 55 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 59 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 59 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuromyotonia and axonal neuropathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 53, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 53, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectopia lentis, isolated, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
heterotaxy, visceral, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the heterotaxy, visceral, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
cataract 22, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the cataract 22, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 5, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 4, with enlarged vestibular aqueduct Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 4, with enlarged vestibular aqueduct phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic ataxia 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic ataxia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic ataxia 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic ataxia 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 76 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 76 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 77 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 77 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 70 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 70 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 71 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 71 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 79 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 79 phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa, juvenile, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, juvenile, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
protoporphyria, erythropoietic, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the protoporphyria, erythropoietic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 1a Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 1a phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 30, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 30, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 85 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 85 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopia 23, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopia 23, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spastic paraplegia 43, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 43, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hydrocephalus, nonsyndromic, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hydrocephalus, nonsyndromic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 45, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 45, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 33 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 37 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 37 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 35 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 38 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 39 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 25, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 25, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?deafness, autosomal recessive 91 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 91 phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 39, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 39, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1f, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1f, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 55, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 55, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, sutosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, sutosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy, chronic distal, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, chronic distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 24, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 24, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 28, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 28, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 1, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
{dyskeratosis congenita, autosomal recessive 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {dyskeratosis congenita, autosomal recessive 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 9, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 9, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholesterolemia, familial, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, familial, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 8, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
aicardi-goutieres syndrome 1, dominant and recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 11, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 11, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocrebellar ataxia, autosomal recessive 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocrebellar ataxia, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?coloboma, ocular, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?coloboma, ocular, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 84a Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 84a phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 84b Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 84b phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 96 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 96 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 93 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 93 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 98 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 98 phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypertrophic osteoarthropathy, primary, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypertrophic osteoarthropathy, primary, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 10/20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alport syndrome, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the alport syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyskeratosis congenita, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyskeratosis congenita, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyskeratosis congenita, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyskeratosis congenita, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 8/10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 8/10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bestrophinopathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the bestrophinopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 46, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 46, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epidermolysis bullosa dystrophica, autosomal recessive, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epidermolysis bullosa dystrophica, autosomal recessive, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1b, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 26, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 26, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 51, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 51, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1c, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1c, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 6, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 6, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniometaphyseal dysplasia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hsan2d, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hsan2d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Gene SetFrom OMIM Gene-Disease Associations genes associated with the colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas phenotype from the curated OMIM Gene-Disease Associations dataset. |
?deafness, autosomal recessive 103 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 103 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?deafness, autosomal recessive 102 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 102 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?deafness, autosomal recessive 101 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 101 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 47, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 47, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoparathyroidism, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoparathyroidism, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 1, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 1, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa-12, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa-12, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 8, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 8, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 4a Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 1, with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (incomplete), 2b, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (incomplete), 2b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, autosomal recessive 4b (harlequin) Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, autosomal recessive 4b (harlequin) phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperekplexia, hereditary 1, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperekplexia, hereditary 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type iiia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iiia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type iiib Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iiib phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 43 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa 4, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa 4, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 27, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 27, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
{deafness, autosomal recessive 12, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {deafness, autosomal recessive 12, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, primary, autosomal recessive, il21r-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, primary, autosomal recessive, il21r-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 39 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 38 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 33 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 35 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, neurosensory, autosomal recessive 47 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, neurosensory, autosomal recessive 47 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myotonia congenita, recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myotonia congenita, recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 52, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 52, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
candidiasis, familial, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
candidiasis, familial, 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyper-ige recurrent infection syndrome, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyper-ige recurrent infection syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
bernard-soulier syndrome, type a1 (recessive) Gene SetFrom OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type a1 (recessive) phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 14, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 14, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1e, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1e, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 56, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 56, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 3, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 3, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypophosphatemic rickets, autosomal recessive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 35, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 35, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
weill-marchesani syndrome 1, recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the weill-marchesani syndrome 1, recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 40 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 44 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 48 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 48 phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal endothelial dystrophy 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal endothelial dystrophy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?deafness, autosomal recessive 44 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 7, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type iia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type iib Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iib phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperekplexia 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperekplexia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 68 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 68 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 61 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 61 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 63 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 63 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 62 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 62 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 65 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 65 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 67 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 67 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 66 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 66 phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 5, juvenile recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 5, juvenile recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1d, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 50, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 50, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?deafness, autosomal recessive 88 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 88 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 44, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 44, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 15, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness , autosomal recessive 86 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness , autosomal recessive 86 phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 41 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 22 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 22 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial recessive ataxia syndrome (includes sando and scae) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myoglobinuria, acute recurrent, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cataract 18, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the cataract 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
thyroid hormone resistance, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thyroid hormone resistance, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
tetra-amelia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the tetra-amelia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
factor xi deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the factor xi deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
robinow syndrome, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the robinow syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal degeneration, autosomal recessive, clumped pigment type Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spastic paraplegia 72, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 72, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 49, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 49, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 4, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 4, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteopetrosis, autosomal recessive 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 2 with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 7, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylocostal dysostosis 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 54, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 54, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 83 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 83 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 89 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 89 phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal clouding, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal clouding, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 12, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 12, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 7, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 7, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
segawa syndrome, recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the segawa syndrome, recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly and chorioretinopathy, autosomal recessive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly and chorioretinopathy, autosomal recessive, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 13, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 13, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia, spastic, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia, spastic, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spastic paraplegia 61, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 61, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 48, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia 48, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
cornea plana congenita, recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the cornea plana congenita, recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spastic paraplegia 57, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 57, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculodentodigital dysplasia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spondylocostal dysostosis 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spondylocostal dysostosis 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
candidiasis, familial, 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal recessive 49 Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 49 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrocephaly/megalencephaly syndrome, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |