| Name |
|---|
SCAR2 Genespinocerebellar ataxia, autosomal recessive 2 |
SCAR3 Genespinocerebellar ataxia, autosomal recessive 3 |
SCASI Genespinocerebellar ataxia with saccadic intrusions |
SCA20 Genespinocerebellar ataxia 20 |
SCA21 Genespinocerebellar ataxia 21 |
SCA25 Genespinocerebellar ataxia 25 |
SCA26 Genespinocerebellar ataxia 26 |
SCA18 Genespinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) |
SCAX2 Genespinocerebellar ataxia, X-linked 2 |
SCAX3 Genespinocerebellar ataxia, X-linked 3 |
SCAX4 Genespinocerebellar ataxia, X-linked 4 |
SCAX5 GeneSpinocerebellar ataxia, X-linked 5 |
SCA9 Genespinocerebellar ataxia 9 |
SCA37 Genespinocerebellar ataxia 37 |
SCA32 Genespinocerebellar ataxia 32 |
SCA30 Genespinocerebellar ataxia 30 |
NPAT Genenuclear protein, ataxia-telangiectasia locus Enables transcription coactivator activity and transcription corepressor activity. Involved in cell cycle G1/S phase transition and positive regulation of transcription by RNA polymerase II. Located in Cajal body; Gemini of coiled bodies; and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
FRDA2 GeneFriedreich ataxia 2 |
CLA3 Genecerebellar ataxia 3 (cerebellar parenchyma disorder 1) |
EA7 GeneEpisodic ataxia, type 7 |
SPAX3 GeneAtaxia, spastic, 3, autosomal recessive |
SAX1 Genespastic ataxia 1 (autosomal dominant) |
EA8 GeneEpisodic ataxia, type 8 |
EA3 GeneEpisodic ataxia, type 3 |
ATCAY Geneataxia, cerebellar, Cayman type This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008] |
MCOPCT1 Genecataract, congenital, with microphthalmia |
CFTDX GeneMyopathy, congenital, with fiber-type disproportion, X-linked |
NPHS1 Genenephrosis 1, congenital, Finnish type (nephrin) This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] |
CTRCT37 GeneCataract, congenital cerulean type, 5 |
CTRCT34 GeneCataract, autosomal recessive congenital 3 |
CTRCT35 Genecataract, congenital nuclear, autosomal recessive |
BSCL2 GeneBerardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024] |
HTC1 Genehypertrichosis 1 (universalis, congenital) |
HTC2 Genehypertrichosis 2 (generalized, congenital) |
RNANC GeneRetinal nonattachment, nonsyndromic congenital |
NHS GeneNance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] |
MDC1B GeneMuscular dystrophy, congenital, 1B |
CDAN3 Genecongenital dyserythropoietic anemia, type III |
LCA5L GeneLeber congenital amaurosis 5-like Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025] |
NDNC9 GeneNail disorder, nonsyndromic congenital, 9 |
NYS2 Genenystagmus 2, congenital autosomal dominant |
NYS3 Genenystagmus 3, congenital autosomal dominant |
NYS7 GeneNystagmus 7, congenital |
NYS4 Genenystagmus 4, congenital autosomal dominant |
NDIC GeneNail dysplasia, isolated congenital |
CTRCT27 GeneCataract, congenital, nuclear progressive |
PTOS2 GenePtosis, hereditary congenital 2 |
PTOS1 Geneptosis, congenital 1 (autosomal dominant) |
GLC3C Geneglaucoma 3, primary congenital, C |
SMAL Genespinal muscular atrophy, congenital nonprogressive, of lower limbs |
ANIC GeneAnosmia, isolated congenital |
CHDT3 GeneCongenital heart defects, multiple types, 3 |
MDCMP Genemuscular dystrophy, congenital, merosin-positive |
CHNG3 GeneHypothyroidism, congenital, nongoitrous, 3 |
LCA5 GeneLeber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] |
CCA1 Genecataract, congenital, cerulean type, 1 |
CCT Genecataract, congenital, total |
CCV Genecataract, congenital, Volkmann type |
MCOR Genemicrocoria, congenital |
DIH2 GeneHernia, congenital diaphragmatic 2 |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
PAFC GenePreauricular fistulae, congenital |
spinocerebellar ataxia 29, congenital nonprogressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 29, congenital nonprogressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nonprogressive cerebellar ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive cerebellar ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebellar ataxia, nonprogressive, with mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, nonprogressive, with mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
Nonprogressive Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonprogressive Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nonprogressive cerebellar ataxia with mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nonprogressive cerebellar ataxia with mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset. |
nonprogressive congenital retinal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive congenital retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinal muscular atrophy, distal, congenital nonprogressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, congenital nonprogressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
Cone-Rod Synaptic Disorder, Congenital Nonprogressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cone-Rod Synaptic Disorder, Congenital Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive/Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive/Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital nonprogressive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nonprogressive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 28 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. |
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. |
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. |
Spinocerebellar ataxia 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, X-linked 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, X-linked 1 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. |
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. |
Spinocerebellar ataxia 40 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 35 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 35 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. |
Spinocerebellar ataxia 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 26 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 29 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia 38 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar Ataxia 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 15 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 12 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia 17 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 17 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 10 from the curated CTD Gene-Disease Associations dataset. |
Anemia, sideroblastic spinocerebellar ataxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, sideroblastic spinocerebellar ataxia from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 11 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 26 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 26 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 28 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 28 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. |
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. |
Spinocerebellar Ataxia, X-Linked 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, X-Linked 5 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 8 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. |
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. |
Spinocerebellar ataxia, X-linked, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, X-linked, 4 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, X-linked, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, X-linked, 3 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, X-linked, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, X-linked, 2 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. |
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. |
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. |
Spinocerebellar ataxia 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 13 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 20 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia 29 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 29 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 23 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 23 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 21 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 21 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 27 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 27 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 25 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 25 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 14 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Ataxia 31 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia 31 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia 30 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia 30 from the curated CTD Gene-Disease Associations dataset. |
infantile onset spinocerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease infantile onset spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spinocerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
infantile onset spinocerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease infantile onset spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sideroblastic anemia with spinocerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sideroblastic anemia with spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spinocerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spinocerebellar ataxia type 6 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinocerebellar ataxia type 6 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinocerebellar ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinocerebellar ataxia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinocerebellar ataxia; muscular dystrophy; neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinocerebellar ataxia; muscular dystrophy; neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carotid artery intima-media thickness; spinocerebellar ataxia; huntington's disease; myotonic dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carotid artery intima-media thickness; spinocerebellar ataxia; huntington's disease; myotonic dystrophy in GWAS and other genetic association datasets from the GAD 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. |
?spinocerebellar ataxia 34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia 34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spinocerebellar ataxia 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 8 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. |
spinocerebellar ataxia 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 35 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 35 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 38 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 38 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. |
spinocerebellar ataxia, x-linked 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, x-linked 5 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. |
?spinocerebellar ataxia 40 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia 40 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spinocerebellar ataxia 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?spinocerebellar ataxia, x-linked 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, x-linked 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive with axonal neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive with axonal neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia type 14 Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease spinocerebellar ataxia type 14 from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
spinocerebellar ataxia type 1 Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease spinocerebellar ataxia type 1 from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Spinocerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Onset Spinocerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Onset Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spinocerebellar ataxia with axonal neuropathy 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinocerebellar ataxia with axonal neuropathy 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 6 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinocerebellar ataxia type 6 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinocerebellar ataxia type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinocerebellar ataxia type 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 36 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinocerebellar ataxia type 36 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 8 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive spinocerebellar ataxia 8 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 20 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia with axonal neuropathy type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 36 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 36 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia with axonal neuropathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 37 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 37 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia with axonal neuropathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 25 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 17 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 34 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 24 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked spinocerebellar ataxia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked spinocerebellar ataxia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia 45 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia 45 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 38 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 38 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 17 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 29 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 18 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 27 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 19/22 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 19/22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 31 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 27 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 28 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 35 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked spinocerebellar ataxia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked spinocerebellar ataxia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 28 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 31 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked spinocerebellar ataxia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked spinocerebellar ataxia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 32 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 18 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 20 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia 46 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia 46 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 25 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 40 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 40 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked spinocerebellar ataxia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked spinocerebellar ataxia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked spinocerebellar ataxia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked spinocerebellar ataxia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia 44 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 22 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spinocerebellar ataxia 33 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spinocerebellar ataxia 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile onset spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile onset spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spinocerebellar ataxia / Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spinocerebellar ataxia / phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spinocerebellar ataxia Gene SetFrom KEGG Pathways 2026 proteins participating in the Spinocerebellar ataxia pathway from the KEGG Pathways 2026 dataset. |
Heart block, nonprogressive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Heart block, nonprogressive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
nonprogressive Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term nonprogressive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
nonprogressive restrictive external ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive restrictive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive muscular atrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive muscular atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive visual loss Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive visual loss phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive disorder Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive disorder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
heart block, nonprogressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the heart block, nonprogressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
Nonprogressive Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Conduction Defect, Nonprogressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect, Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart Block, Nonprogressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Block, Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive Restrictive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive Restrictive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nonprogressive Visual Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonprogressive Visual Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Congenital Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Non-Progressive Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Non-Progressive Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-progressive congenital cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-progressive congenital cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
congenital heart defects; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; folic acid deficiency; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome 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. |
cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; nervous system diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; congenital heart defects; growth disorders; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Heart Defects, Congenital, And Other Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spinocerebellar Ataxias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxias from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar Degenerations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Degenerations from the curated CTD Gene-Disease Associations dataset. |
spinocerebellar degeneration Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spinocerebellar degeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spinocerebellar degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spinocerebellar degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
huntington disease; myoclonic cerebellar dyssynergia; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease huntington disease; myoclonic cerebellar dyssynergia; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
genomic instability; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease genomic instability; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
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. |
spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinocerebellar Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term spinocerebellar in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
spinocerebellar tract disease in lower limbs Gene SetFrom HPO Gene-Disease Associations genes associated with the spinocerebellar tract disease in lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinocerebellar tract degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the spinocerebellar tract degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
late-onset spinocerebellar degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the late-onset spinocerebellar degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the spinocerebellar tracts Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the spinocerebellar tracts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinocerebellar atrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the spinocerebellar atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Spinocerebellar Ataxias Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Spinocerebellar Ataxias phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Spinocerebellar Degenerations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Spinocerebellar Degenerations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Spinocerebellar Tract Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spinocerebellar Tract Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spinocerebellar Tract Disease In Lower Limbs Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spinocerebellar Tract Disease In Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of The Spinocerebellar Tracts Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Spinocerebellar Tracts in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Late-Onset Spinocerebellar Degeneration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Late-Onset Spinocerebellar Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Spinocerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spinocerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia-telangiectasia-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cognitive impairment with or without cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cognitive impairment with or without cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic ataxia, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic ataxia, type 6 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. |
Ataxia with vitamin E deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia, sensory, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia, sensory, autosomal dominant 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. |
Friedreich's ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Friedreich's ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic ataxia Charlevoix-Saguenay type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic ataxia Charlevoix-Saguenay type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrokeratodermia with ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrokeratodermia with ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy with ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia and hypogonadotropic hypogonadism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive myoclonus epilepsy with ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive myoclonus epilepsy with ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, deafness, and narcolepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia-like disorder 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia-like disorder 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-oculomotor apraxia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-oculomotor apraxia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult onset ataxia with oculomotor apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult onset ataxia with oculomotor apraxia 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. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic ataxia type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic ataxia type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic ataxia type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic ataxia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia Telangiectasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia Telangiectasia from the curated CTD Gene-Disease Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Gait Ataxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gait Ataxia 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. |
Posterior column ataxia with retinitis pigmentosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Posterior column ataxia with retinitis pigmentosa from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Cayman Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Cayman Type from the curated CTD Gene-Disease Associations dataset. |
Episodic ataxia with nystagmus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic ataxia with nystagmus from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
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. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 from the curated CTD Gene-Disease Associations dataset. |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset. |
Spastic ataxia Charlevoix-Saguenay type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic ataxia Charlevoix-Saguenay type from the curated CTD Gene-Disease Associations dataset. |
Sensorimotor neuropathy with ataxia, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sensorimotor neuropathy with ataxia, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Friedreich Ataxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Friedreich Ataxia from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Episodic Ataxia, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic Ataxia, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Episodic Ataxia, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic Ataxia, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Episodic Ataxia, Type 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic Ataxia, Type 7 from the curated CTD Gene-Disease Associations dataset. |
Episodic Ataxia, Type 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic Ataxia, Type 5 from the curated CTD Gene-Disease Associations dataset. |
Ataxia, Spastic, 1, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia, Spastic, 1, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Episodic Ataxia, Type 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic Ataxia, Type 6 from the curated CTD Gene-Disease Associations dataset. |
Friedreich Ataxia 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Friedreich Ataxia 1 from the curated CTD Gene-Disease Associations dataset. |
Friedreich Ataxia 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Friedreich Ataxia 2 from the curated CTD Gene-Disease Associations dataset. |
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset. |
Fragile X Tremor Ataxia Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fragile X Tremor Ataxia Syndrome from the curated CTD Gene-Disease Associations dataset. |
Ataxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia from the curated CTD Gene-Disease Associations dataset. |
episodic ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease episodic ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ataxia telangiectasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ataxia telangiectasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
x-linked sideroblastic anemia with ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease x-linked sideroblastic anemia with ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
friedreich ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease friedreich ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
friedreich ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease friedreich ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ataxia telangiectasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ataxia telangiectasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
x-linked sideroblastic anemia with ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease x-linked sideroblastic anemia with ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
episodic ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease episodic ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ataxia with oculomotor apraxia type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ataxia with oculomotor apraxia type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ataxia with oculomotor apraxia type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ataxia with oculomotor apraxia type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
essential tremor; cerebral ataxia; multiple-system atropy; parkinsonism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease essential tremor; cerebral ataxia; multiple-system atropy; parkinsonism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; ataxia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomegaly; friedreich ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomegaly; friedreich ataxia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia telangiectasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia telangiectasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebellar ataxia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebellar ataxia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x associated tremor/ataxia syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x associated tremor/ataxia syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia telangiectasia; louis-bar syndrome; lymphoma, non-hodgkin; lymphoma, non-hodgkin's Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia telangiectasia; louis-bar syndrome; lymphoma, non-hodgkin; lymphoma, non-hodgkin's in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia-telangiectasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia-telangiectasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
friedreich ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease friedreich ataxia 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. |
ataxia telangiectasia; fragile x syndrome; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia telangiectasia; fragile x syndrome; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathies; friedreich ataxia; scoliosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathies; friedreich ataxia; scoliosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
episodic ataxia type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease episodic ataxia type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
huntington's disease; ataxia (sca) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease huntington's disease; ataxia (sca) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x-associated tremor/ataxia syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x-associated tremor/ataxia syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia; fragile x syndrome; huntington disease; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia; fragile x syndrome; huntington disease; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia telangiectasia; neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia telangiectasia; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia (sca) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia (sca) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosomal instability; friedreich ataxia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosomal instability; friedreich ataxia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia; fragile x syndrome; fragile x syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia; fragile x syndrome; fragile x syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebellar ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebellar ataxia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia telangiectasia; carcinoma, squamous cell; mouth neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ataxia telangiectasia; carcinoma, squamous cell; mouth neoplasms 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. |
gait ataxia; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gait ataxia; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
friedreichs ataxia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease friedreichs ataxia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ataxia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term ataxia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
spastic ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the spastic ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gait ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the gait ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
episodic ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the episodic ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive gait ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive gait ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sensory ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the sensory ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive truncal ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive truncal ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
truncal ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the truncal ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive cerebellar ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive cerebellar ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Gait Ataxia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Gait Ataxia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ataxia Telangiectasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ataxia Telangiectasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Friedreich Ataxia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Friedreich Ataxia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cerebellar Ataxia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cerebellar Ataxia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ataxia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ataxia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
ataxia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ataxia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ataxia with isolated vitamin e deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia with isolated vitamin e deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic ataxia, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic ataxia, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic ataxia, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic ataxia, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic ataxia, type 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic ataxia, type 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic ataxia, type 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic ataxia, type 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic ataxia, type 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic ataxia, type 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cognitive impairment with or without cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cognitive impairment with or without cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
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. |
anemia, sideroblastic, with ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, sideroblastic, with ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia-telangiectasia-like disorder Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia-telangiectasia-like disorder 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. |
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia, cerebellar, cayman type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia, cerebellar, cayman type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia-telangiectasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia-telangiectasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine, familial hemiplegic, 1, with progressive cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?ataxia-telangiectasia-like disorder Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?ataxia-telangiectasia-like disorder phenotype from the curated OMIM Gene-Disease Associations dataset. |
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
friedreich ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the friedreich ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic ataxia 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic ataxia 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
fragile x tremor/ataxia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the fragile x tremor/ataxia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia, posterior column, with retinitis pigmentosa Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia, posterior column, with retinitis pigmentosa phenotype from the curated OMIM Gene-Disease Associations dataset. |
friedreich ataxia with retained reflexes Gene SetFrom OMIM Gene-Disease Associations genes associated with the friedreich ataxia with retained reflexes phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia-ocular apraxia-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia-ocular apraxia-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia-oculomotor apraxia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia-oculomotor apraxia 3 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. |
ataxia, sensory, 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia, sensory, 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic ataxia/myokymia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic ataxia/myokymia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
friedreich ataxia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the friedreich ataxia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia, spastic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ataxia, spastic, 4 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. |
cerebellar ataxia and hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic ataxia, charlevoix-saguenay type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic ataxia, charlevoix-saguenay type phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, deafness, and narcolepsy, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
ataxia Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term ataxia in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
ataxia-telangiectasic cancer Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease ataxia-telangiectasic cancer from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
ataxia-telangiectasia Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease ataxia-telangiectasia from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spastic Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spastic Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Friedreich Ataxia 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Friedreich Ataxia 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood Ataxia With Central Nervous System Hypomyelinization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood Ataxia With Central Nervous System Hypomyelinization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Friedreich Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Friedreich Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fragile X Tremor/Ataxia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fragile X Tremor/Ataxia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessie Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessie Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Episodic Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Episodic Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Marie Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Marie Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Paraneoplastic Opsoclonus-Myoclonus Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Paraneoplastic Opsoclonus-Myoclonus Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Erythrokeratodermia With Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Erythrokeratodermia With Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Posterior Column Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Posterior Column Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Posterior Column Ataxia With Retinitis Pigmentosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Posterior Column Ataxia With Retinitis Pigmentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Harding Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Harding Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cognitive Impairment With Or Without Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cognitive Impairment With Or Without Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spectrin-Associated Autosomal Recessive Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Cerebellar Ataxia Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Cerebellar Ataxia Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Gait Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gait Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Gait Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Gait Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sporadic Adult-Onset Ataxia Of Unknown Etiology Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sporadic Adult-Onset Ataxia Of Unknown Etiology in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cerebellar Gait Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cerebellar Gait Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Gait Ataxia, Sensory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gait Ataxia, Sensory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Truncal Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Truncal Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intermittent Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intermittent Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Optic Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Optic Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Episodic Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Episodic Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
ataxia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ataxia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
PKC gamma calcium signaling in ataxia Gene SetFrom WikiPathways Pathways 2024 proteins participating in the PKC gamma calcium signaling in ataxia pathway from the WikiPathways Pathways 2024 dataset. |
Defective SLC1A3 causes episodic ataxia 6 (EA6) Gene Setproteins participating in the Defective SLC1A3 causes episodic ataxia 6 (EA6) pathway from the Reactome Pathways 2024 dataset. |
Autosomal dominant cerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant cerebellar ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Cerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Cerebellar ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive cerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive cerebellar ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Charlevoix-Saguenay spastic ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Charlevoix-Saguenay spastic ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Episodic ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Episodic ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked sideroblastic anemia with ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked sideroblastic anemia with ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Friedreich ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Friedreich ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Ataxia telangiectasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ataxia telangiectasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Fragile X-associated tremor/ataxia syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Fragile X-associated tremor/ataxia syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked hereditary ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked hereditary ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal dominant cerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fragile X-associated tremor/ataxia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fragile X-associated tremor/ataxia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked hereditary ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked hereditary ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive cerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ataxia telangiectasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ataxia telangiectasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Friedreich ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Friedreich ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia type 48 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia type 48 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotonia, ataxia, and delayed development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotonia, ataxia, and delayed development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia type 41 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia type 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia type 42 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia type 42 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked sideroblastic anemia with ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked sideroblastic anemia with ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Friedreich ataxia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Friedreich ataxia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant cerebellar ataxia, deafness and narcolepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cayman type cerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cayman type cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ataxia-telangiectasia-like disorder-2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ataxia-telangiectasia-like disorder-2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease stress-induced childhood-onset neurodegeneration with variable ataxia and seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia type 47 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia type 47 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia type 43 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia type 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ataxia with oculomotor apraxia type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ataxia with oculomotor apraxia type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Friedreich ataxia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Friedreich ataxia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia type 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia type 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ataxia-telangiectasia-like disorder-1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ataxia-telangiectasia-like disorder-1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Charlevoix-Saguenay spastic ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Charlevoix-Saguenay spastic ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant sensory ataxia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant sensory ataxia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with eye movement abnormalities and ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with eye movement abnormalities and ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ataxia with oculomotor apraxia type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ataxia with oculomotor apraxia type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic ataxia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ataxia-oculomotor apraxia type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ataxia-oculomotor apraxia type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Episodic ataxia type 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Episodic ataxia type 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gait ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gait ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia - telangiectasia variant Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia - telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia-telangiectasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia-telangiectasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive ataxia due to ubiquinone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Friedreich ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Friedreich ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia - oculomotor apraxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia - oculomotor apraxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Abortive cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Abortive cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Charlevoix-Saguenay spastic ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Charlevoix-Saguenay spastic ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia-hypogonadism-choroidal dystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia-hypogonadism-choroidal dystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Episodic ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Episodic ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia-telangiectasia-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia-telangiectasia-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia and retinitis pigmentosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia and retinitis pigmentosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Posterior column ataxia-retinitis pigmentosa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Posterior column ataxia-retinitis pigmentosa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary episodic ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary episodic ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant sensory ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant sensory ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked progressive cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked progressive cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Chronic and progressive ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Chronic and progressive ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia _ Neurologic Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia _ Neurologic phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fragile X-associated tremor/ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fragile X-associated tremor/ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sideroblastic Anemia and Ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sideroblastic Anemia and Ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recessive mitochondrial ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recessive mitochondrial ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spasticity-ataxia-gait anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spasticity-ataxia-gait anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive spastic ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive spastic ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia Neuropathy Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia Neuropathy Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cayman ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cayman ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia-pancytopenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia-pancytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ITPR1-associated cerebellar ataxia spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ITPR1-associated cerebellar ataxia spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PUM1-associated developmental disability-ataxia-seizure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PUM1-associated developmental disability-ataxia-seizure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia telangiectasi Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia telangiectasi phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar ataxia-hypogonadism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar ataxia-hypogonadism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive gait ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive gait ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
NUS1-related epilepsy-myoclonus-ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the NUS1-related epilepsy-myoclonus-ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal dominant form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hyperplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital human immunodeficiency virus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 5, with tufting enteropathy, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vertical talus, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vertical talus, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease IV, congenital neuromuscular Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial paresis, hereditary congenital, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital glucose-galactose malabsorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital sensory neuropathy with selective loss of small myelinated fibers Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aphakia, congenital primary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aphakia, congenital primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, congenital generalized, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital contractural arachnodactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital absence of salivary gland Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Merosin deficient congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nystagmus 6, congenital, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Afibrinogenemia, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Afibrinogenemia, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Walker-Warburg congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 3, secretory sodium, congenital, syndromic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic 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. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hypoplasia, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital secretory diarrhea, chloride type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart disease, multiple types, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Congenital stationary night blindness, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart defects, multiple types, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital erythropoietic porphyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Eichsfeld type congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency 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. |
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. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy 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. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult i Blood Group with or without Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital cystic disease of liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital order of glycosylation type 1r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, congenital hypomyelinating, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital central hypoventilation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital central hypoventilation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital ocular coloboma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1y Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digital clubbing, isolated congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1u Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1t Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital defect of folate absorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption 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. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital aniridia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital aniridia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital hyperammonemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital exostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital microvillous atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital microvillous atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial congenital absence of teeth Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1E 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. |
Congenital myasthenic syndrome, acetazolamide-responsive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glaucoma, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glaucoma, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular hypertrophy-cerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Stromal Corneal Dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Hyperinsulinism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hyperinsulinism from the curated CTD Gene-Disease Associations dataset. |
Cataract congenital Volkmann type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract congenital Volkmann type from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Congenital bilateral aplasia of vas deferens Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital bilateral aplasia of vas deferens from the curated CTD Gene-Disease Associations dataset. |
Congenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 4 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 4 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Congenital idiopathic intestinal pseudoobstruction Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital idiopathic intestinal pseudoobstruction from the curated CTD Gene-Disease Associations dataset. |
Vertical talus, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vertical talus, congenital from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 1, congenital, X- linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset. |
Facial paresis, hereditary, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital anosmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital anosmia from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 5 from the curated CTD Gene-Disease Associations dataset. |
Hyperferritinemia, hereditary, with congenital cataracts Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset. |
Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Hernias, Diaphragmatic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hernias, Diaphragmatic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIF Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contracture Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Aphakia, congenital primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aphakia, congenital primary from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 2, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital contractural arachnodactyly from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 4, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset. |
Muscular dystrophy congenital, merosin negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative 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. |
Ptosis, Hereditary Congenital 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset. |
Pain Insensitivity, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pain Insensitivity, Congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Adrenal Hyperplasia, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal Hyperplasia, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hypoplastic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hypoplastic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized from the curated CTD Gene-Disease Associations dataset. |
Congenital hypertrichosis lanuginosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital hypertrichosis lanuginosa from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 10 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 2 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder of Glycosylation, Type Io Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital central hypoventilation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital central hypoventilation syndrome from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type Im Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type In Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Zonular, with Sutural Opacities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Zonular, with Sutural Opacities from the curated CTD Gene-Disease Associations dataset. |
Lethal congenital contracture syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Microcoria, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcoria, congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 14 from the curated CTD Gene-Disease Associations dataset. |
ADRENAL HYPOPLASIA, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ADRENAL HYPOPLASIA, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 4, Malabsorptive, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 4, Malabsorptive, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset. |
CAPILLARY MALFORMATIONS, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CAPILLARY MALFORMATIONS, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset. |
Nephrosis, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephrosis, congenital from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
GLAUCOMA 3, PRIMARY CONGENITAL, C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset. |
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Merosin-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset. |
Myopathies, Structural, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathies, Structural, Congenital from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 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. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1F 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. |
Congenital myasthenic syndrome with episodic apnea Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome with episodic apnea from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset. |
Preauricular Fistulae, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preauricular Fistulae, Congenital from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset. |
Lower Extremity Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lower Extremity Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 5, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Night blindness, congenital stationary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night blindness, congenital stationary from the curated CTD Gene-Disease Associations dataset. |
Fibrosis of Extraocular Muscles, Congenital, 3B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis of Extraocular Muscles, Congenital, 3B from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome ib Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome ib from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Marie Unna congenital hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 6, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 3, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 12 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 13 from the curated CTD Gene-Disease Associations dataset. |
Congenital atransferrinemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital atransferrinemia from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR from the curated CTD Gene-Disease Associations dataset. |
RETT SYNDROME, CONGENITAL VARIANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset. |
Myasthenic syndrome, congenital, postsynaptic slow-channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset. |
Nystagmus, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndromes, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndromes, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset. |
Corneal Dystrophy, Congenital Stromal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Hand Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hand Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
LEBER CONGENITAL AMAUROSIS 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEBER CONGENITAL AMAUROSIS 15 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 3, Secretory Sodium, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 3, Secretory Sodium, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset. |
Limb Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Pancreatic Agenesis, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pancreatic Agenesis, Congenital from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis congenital generalized X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset. |
Nail dysplasia, isolated congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset. |
Foot Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Foot Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contractural Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contractural Syndrome 3 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. |
Heart Defects, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, Primary Congenital, D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, Primary Congenital, D from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, Primary Congenital, A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, Primary Congenital, A from the curated CTD Gene-Disease Associations dataset. |
Adrenal hyperplasia, congenital, type 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal hyperplasia, congenital, type 5 from the curated CTD Gene-Disease Associations dataset. |
Cataract, congenital, with microcornea or slight microphthalmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, congenital, with microcornea or slight microphthalmia from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipoid congenital adrenal hyperplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid congenital adrenal hyperplasia from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndrome, Congenital, Fast-Channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndrome, Congenital, Fast-Channel from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH from the curated CTD Gene-Disease Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Retinal Nonattachment, Nonsyndromic Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinal Nonattachment, Nonsyndromic Congenital from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset. |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Woolly hair, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Woolly hair, congenital from the curated CTD Gene-Disease Associations dataset. |
Glycogen Storage Disease of Heart, Lethal Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital 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. |
Diarrhea 5, With Tufting Enteropathy, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 5, With Tufting Enteropathy, Congenital from the curated CTD Gene-Disease Associations dataset. |
Afibrinogenemia congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Afibrinogenemia congenital from the curated CTD Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
CATARACT, CONGENITAL OR JUVENILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CATARACT, CONGENITAL OR JUVENILE from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 2 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. |
Lipodystrophy, Congenital Generalized, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Dyserythropoietic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Dyserythropoietic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB 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. |
Hyperostosis, Cortical, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperostosis, Cortical, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Lmna-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset. |
congenital afibrinogenemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital afibrinogenemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital disorder of glycosylation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital heart disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital heart disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital diaphragmatic hernia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital dyserythropoietic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital dyserythropoietic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital generalized lipodystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital generalized lipodystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital nervous system abnormality Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital nervous system abnormality from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hypoplastic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hypoplastic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hypothyroidism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hypothyroidism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital myasthenic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital myasthenic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
leber congenital amaurosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease leber congenital amaurosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital stationary night blindness Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital stationary night blindness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital ichthyosiform erythroderma Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital ichthyosiform erythroderma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
late congenital syphilis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease late congenital syphilis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type ii Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type ii in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital intrinsic factor deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital generalized lipodystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital generalized lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nervous system abnormality Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nervous system abnormality in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital afibrinogenemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital afibrinogenemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital granular cell tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital granular cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypogammaglobulinemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypogammaglobulinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital syphilis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital syphilis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ullrich congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital heart block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital heart block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypoplastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypoplastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital adrenal insufficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital adrenal insufficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital stationary night blindness Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital stationary night blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital ichthyosiform erythroderma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital ichthyosiform erythroderma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nonspherocytic hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nonspherocytic hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital toxoplasmosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital toxoplasmosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital mesoblastic nephroma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital heart disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital dyserythropoietic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital dyserythropoietic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital epulis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital epulis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital myasthenic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital myasthenic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital bile acid synthesis defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital diaphragmatic hernia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital diaphragmatic hernia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fukuyama congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital fibrosarcoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital fibrosarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital aphakia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital aphakia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cellular congenital mesoblastic nephroma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cellular congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary congenital glaucoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary congenital glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type i Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leber congenital amaurosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary congenital glaucoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary congenital glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |