| Name |
|---|
FCMTE2 Genefamilial cortical myoclonic tremor with epilepsy 2 |
FCMTE1 Genefamilial cortical myoclonic tremor with epilepsy 1 |
ETM2 Geneessential tremor 2 |
ETM3 GeneTremor, hereditary essential, 3 |
SCAR2 Genespinocerebellar ataxia, autosomal recessive 2 |
SCAR3 Genespinocerebellar ataxia, autosomal recessive 3 |
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] |
SCASI Genespinocerebellar ataxia with saccadic intrusions |
FRDA2 GeneFriedreich ataxia 2 |
CLA3 Genecerebellar ataxia 3 (cerebellar parenchyma disorder 1) |
SCA20 Genespinocerebellar ataxia 20 |
SCA21 Genespinocerebellar ataxia 21 |
SCA25 Genespinocerebellar ataxia 25 |
SCA26 Genespinocerebellar ataxia 26 |
EA7 GeneEpisodic ataxia, type 7 |
SPAX3 GeneAtaxia, spastic, 3, autosomal recessive |
SAX1 Genespastic ataxia 1 (autosomal dominant) |
SCA18 Genespinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) |
EA8 GeneEpisodic ataxia, type 8 |
EA3 GeneEpisodic ataxia, type 3 |
SCAX2 Genespinocerebellar ataxia, X-linked 2 |
SCAX3 Genespinocerebellar ataxia, X-linked 3 |
SCAX4 Genespinocerebellar ataxia, X-linked 4 |
SCAX5 GeneSpinocerebellar ataxia, X-linked 5 |
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] |
SCA9 Genespinocerebellar ataxia 9 |
SCA37 Genespinocerebellar ataxia 37 |
SCA32 Genespinocerebellar ataxia 32 |
SCA30 Genespinocerebellar ataxia 30 |
FRA4A Genefragile site, aphidicolin type, common, fra(4)(p16.1) |
FRA4B Genefragile site, BrdU type, common, fra(4)(q12) |
FRA4C Genefragile site, aphidicolin type, common, fra(4)(q31.1) |
FRA4D Genefragile site, aphidicolin type, common, fra(4)(p15) |
FRA22B Genefragile site, aphidicolin type, common, fra(22)(q12.2) |
FMR1 Genefragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] |
FMR3 Genefragile X mental retardation associated 3 |
FXR1 Genefragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
FXR2 Genefragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008] |
FRA17A Genefragile site, distamycin A type, rare, fra(17)(p12) |
FRA17B Genefragile site, aphidicolin type, common, fra(17)(q23.1) |
FRA7I Genefragile site, aphidicolin type, common, fra(7)(q36) |
FRA7H Genefragile site, aphidicolin type, common, fra(7)(q32.3) |
FRA7J Genefragile site, aphidicolin type, common, fra(7)(q11) |
FRA7A Genefragile site, folic acid type, rare, fra(7)(p11.2) |
FRA7C Genefragile site, aphidicolin type, common, fra(7)(p14.2) |
FRA7B Genefragile site, aphidicolin type, common, fra(7)(p22) |
FRA7E Genefragile site, aphidicolin type, common, fra(7)(q21.2) |
FRA7D Genefragile site, aphidicolin type, common, fra(7)(p13) |
FRA7G Genefragile site, aphidicolin type, common, fra(7)(q31.2) |
FRA7F Genefragile site, aphidicolin type, common, fra(7)(q22) |
LOC100132797 Genefragile X mental retardation, autosomal homolog 1 pseudogene |
FRA10D Genefragile site, aphidicolin type, common, fra(10)(q22.1) |
FRA10E Genefragile site, aphidicolin type, common, fra(10)(q25.2) |
FRA10F Genefragile site, aphidicolin type, common, fra(10)(q26.1) |
FRA10G Genefragile site, aphidicolin type, common, fra(10)(q11.2) |
FRA10A Genefragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) |
FRA10C Genefragile site, BrdU type, common, fra(10)(q21) |
FRA2F Genefragile site, aphidicolin type, common, fra(2)(q21.3) |
FRA2G Genefragile site, aphidicolin type, common, fra(2)(q31) |
FRA2D Genefragile site, aphidicolin type, common, fra(2)(p16.2) |
FRA2E Genefragile site, aphidicolin type, common, fra(2)(p13) |
FRA2B Genefragile site, folic acid type, rare, fra(2)(q13) |
FRA2C Genefragile site, aphidicolin type, common, fra(2)(p24.2) |
FRA2A Genefragile site, folic acid type, rare, fra(2)(q11.2) |
FRA2J Genefragile site, aphidicolin type, common, fra(2)(q37.3) |
FRA2K Genefragile site, folic acid type, rare, fra(2)(q22.3) |
FRA2H Genefragile site, aphidicolin type, common, fra(2)(q32.1) |
FRA2I Genefragile site, aphidicolin type, common, fra(2)(q33) |
FRA18A Genefragile site, aphidicolin type, common, fra(18)(q12.2) |
FRA18B Genefragile site, aphidicolin type, common, fra(18)(q21.3) |
NUFIP2 Genenuclear fragile X mental retardation protein interacting protein 2 Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025] |
NUFIP1 Genenuclear fragile X mental retardation protein interacting protein 1 This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012] |
FRA15A Genefragile site, aphidicolin type, common, fra(15)(q22) |
FHIT Genefragile histidine triad The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017] |
FRA5G Genefragile site, folic acid type, rare, fra(5)(q35) |
FRA5F Genefragile site, aphidicolin type, common, fra(5)(q21) |
FRA5E Genefragile site, aphidicolin type, common, fra(5)(p14) |
FRA5D Genefragile site, aphidicolin type, common, fra(5)(q15) |
FRA5C Genefragile site, aphidicolin type, common, fra(5)(q31.1) |
FRA5B Genefragile site, BrdU type, common, fra(5)(q15) |
FRA5A Genefragile site, BrdU type, common, fra(5)(p13) |
NUFIP1P Genenuclear fragile X mental retardation protein interacting protein 1 pseudogene |
FRA10B Genefragile site, BrdU type, rare, fra(10)(q25.2) |
FRA16D Genefragile site, aphidicolin type, common, fra(16)(q23.2) |
FRA16E Genefragile site, distamycin A type, rare, fra(16)(p12.1) |
FRA16B Genefragile site, distamycin A type, rare, fra(16)(q22.1) |
FRA16C Genefragile site, aphidicolin type, common, fra(16)(q22.1) |
FRA16A Genefragile site, folic acid type, rare, fra(16)(p13.11) There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (MIM 613604); see MIM 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see MIM 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.[supplied by OMIM, Nov 2010] |
FRA8D Genefragile site, aphidicolin type, common, fra(8)(q24.3) |
FRA8E Genefragile site, distamycin A type, rare, fra(8)(q24.1) |
FRA8A Genefragile site, folic acid type, rare, fra(8)(q22.3) |
FRA8B Genefragile site, aphidicolin type, common, fra(8)(q22.1) |
FRA8C Genefragile site, aphidicolin type, common, fra(8)(q24.1) |
FRA10AC1 Genefragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016] |
FRA13A Genefragile site, aphidicolin type, common, fra(13)(q13.2) |
FRA13C Genefragile site, aphidicolin type, common, fra(13)(q21.2) |
FRA13B Genefragile site, BrdU type, common, fra(13)(q21) |
FRA13D Genefragile site, aphidicolin type, common, fra(13)(q32) |
FRA3D Genefragile site, aphidicolin type, common, fra(3)(q25) |
FRA3C Genefragile site, aphidicolin type, common, fra(3)(q27) |
FRA22A Genefragile site, folic acid type, rare, fra(22)(q13) |
FRA18C Genefragile site, aphidicolin type, common, fra(18)(q22.2) |
FRAXD Genefragile site, aphidicolin type, common, fra(X)(q27.2) D |
FRAXE Genefragile site, folic acid type, rare, fra(X)(q28) E |
FRAXA Genefragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) |
FRAXB Genefragile site, aphidicolin type, common, fra(X)(p22.31) B |
FRAXC Genefragile site, aphidicolin type, common, fra(X)(q22.1) C |
FRA14B Genefragile site, aphidicolin type, common, fra(14)(q23) |
FRA14C Genefragile site, aphidicolin type, common, fra(14)(q24.1) |
FRA6B Genefragile site, aphidicolin type, common, fra(6)(p25.1) |
FRA6C Genefragile site, aphidicolin type, common, fra(6)(p22.2) |
FRA6A Genefragile site, folic acid type, rare, fra(6)(p23) |
FRA6F Genefragile site, aphidicolin type, common, fra(6)(q21) |
FRA6G Genefragile site, aphidicolin type, common, fra(6)(q15) |
FRA6D Genefragile site, BrdU type, common, fra(6)(q13) |
FRA6E Genefragile site, aphidicolin type, common, fra(6)(q26) |
FRA3A Genefragile site, aphidicolin type, common, fra(3)(p24.2) |
FRA11C Genefragile site, aphidicolin type, common, fra(11)(p15.1) |
FRA11A Genefragile site, folic acid type, rare, fra(11)(q13.3) |
FRA11G Genefragile site, aphidicolin type, common, fra(11)(q23.3) |
FRA11F Genefragile site, aphidicolin type, common, fra(11)(q14.2) |
FRA11E Genefragile site, aphidicolin type, common, fra(11)(p13) |
FRA11D Genefragile site, aphidicolin type, common, fra(11)(p14.2) |
FRA11I Genefragile site, distamycin A type, rare, fra(11)(p15.1) |
FRA11H Genefragile site, aphidicolin type, common, fra(11)(q13) |
FMR1NB Genefragile X mental retardation 1 neighbor Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
FRA1C Genefragile site, aphidicolin type, common, fra(1)(p31.2) |
FRA1B Genefragile site, aphidicolin type, common, fra(1)(p32) |
FRA1A Genefragile site, aphidicolin type, common, fra(1)(p36) |
FRA1G Genefragile site, aphidicolin type, common, fra(1)(q25.1) |
FRA1F Genefragile site, aphidicolin type, common, fra(1)(q21) |
FRA1E Genefragile site, aphidicolin type, common, fra(1)(p21.2) |
FRA1D Genefragile site, aphidicolin type, common, fra(1)(p22) |
FRA1K Genefragile site, aphidicolin type, common, fra(1)(q31) |
FRA1J Genefragile site, 5-azacytidine type, common, fra(1)(q12) |
FRA1I Genefragile site, aphidicolin type, common, fra(1)(q44) |
FRA1H Genefragile site, 5-azacytidine type, common, fra(1)(q42) |
FRA1M Genefragile site, folic acid type, rare, fra(1)(p21.3) |
FRA1L Genefragile site, aphidicolin type, common, fra(1)(p31) |
FRA12B Genefragile site, aphidicolin type, common, fra(12)(q21.3) |
FRA19B Genefragile site, folic acid type, rare, fra(19)(p13) |
FRA19A Genefragile site, 5-azacytidine type, common, fra(19)(q13) |
FRA20B Genefragile site, aphidicolin type, common, fra(20)(p12.2) |
FRA20A Genefragile site, folic acid type, rare, fra(20)(p11.23) |
FRA9C Genefragile site, BrdU type, common, fra(9)(p21) |
FRA9B Genefragile site, folic acid type, rare, fra(9)(q32) |
FRA9A Genefragile site, folic acid type, rare, fra(9)(p21) |
FRA9F Genefragile site, 5-azacytidine type, common, fra(9)(q12) |
FRA9E Genefragile site, aphidicolin type, common, fra(9)(q32) |
FRA9D Genefragile site, aphidicolin type, common, fra(9)(q22.1) |
FRA12C Genefragile site, BrdU type, rare, fra(12)(q24.2) |
FRA12A Genefragile site, folic acid type, rare, fra(12)(q13.1) FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000 [PubMed 10955484]). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).[supplied by OMIM, Mar 2008] |
FRA12D Genefragile site, folic acid type, rare, fra(12)(q24.13) |
FRA12E Genefragile site, aphidicolin type, common, fra(12)(q24) |
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. |
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. |
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. |
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. |
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; 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. |
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. |
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. |
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. |
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. |
fragile x syndrome; fragile x syndromes; movement disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; fragile x syndromes; movement disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; fragile x syndromes; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; fragile x syndromes; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; fragile x syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; fragile x syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; tremor 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. |
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. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fragile X Syndrome from the curated CTD Gene-Disease Associations dataset. |
fragile x syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease fragile x syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
fragile x syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fragile x syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy; fragile x syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; fragile x syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; periodontitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; periodontitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; ovarian failure, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; ovarian failure, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Fragile X Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fragile X Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
fragile x syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the fragile x syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Fragile X Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fragile X Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fragile X syndrome Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Fragile X syndrome pathway from the WikiPathways Pathways 2024 dataset. |
Fragile X syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Fragile X syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Fragile X syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fragile X syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fragile X syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Fragile X syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary Ovarian Insufficiency, Fragile X-Associated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Primary Ovarian Insufficiency, Fragile X-Associated from the curated CTD Gene-Disease Associations dataset. |
fragile x trinucleotide repeat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x trinucleotide repeat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term fragile in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
folate-dependent fragile site at xq28 Gene SetFrom HPO Gene-Disease Associations genes associated with the folate-dependent fragile site at xq28 phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fragile nails Gene SetFrom HPO Gene-Disease Associations genes associated with the fragile nails phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fragile skin Gene SetFrom HPO Gene-Disease Associations genes associated with the fragile skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Nuclear fragile X mental retardation-interacting protein 1, conserved domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear fragile X mental retardation-interacting protein 1, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Folate-sensitive fragile site protein Fra10Ac1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Folate-sensitive fragile site protein Fra10Ac1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Transmembrane Fragile-X-F-associated protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Transmembrane Fragile-X-F-associated protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fragile site-associated protein, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fragile site-associated protein, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fragile X mental retardation protein family Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fragile X mental retardation protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
fragile skeleton Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fragile skeleton phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Fragile X Chromosome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fragile X Chromosome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fragile Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fragile Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fragile Nails Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fragile Nails in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Folate-Dependent Fragile Site At Xq28 Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Folate-Dependent Fragile Site At Xq28 in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fragile Teeth Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fragile Teeth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
fragile skeleton Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fragile skeleton phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Fragile skin Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fragile skin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fragile site 11b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fragile site 11b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Tremor, hereditary essential, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tremor, hereditary essential, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tremor hereditary essential, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tremor hereditary essential, 1 from the curated CTD Gene-Disease Associations dataset. |
Tremor Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tremor from the curated CTD Gene-Disease Associations dataset. |
Tremor hereditary essential, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tremor hereditary essential, 2 from the curated CTD Gene-Disease Associations dataset. |
Essential Tremor Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Essential Tremor from the curated CTD Gene-Disease Associations dataset. |
essential tremor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease essential tremor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
essential tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease essential tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; essential tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; essential tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
essential tremor; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease essential tremor; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinson disease, essential tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinson disease, essential tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tremor Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term tremor in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Essential tremor Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Essential tremor phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
essential tremor Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease essential tremor in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
tremor Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the tremor phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
hand tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the hand tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
kinetic tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the kinetic tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the limb tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
resting tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the resting tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb postural tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb postural tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intention tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the intention tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
tremor by anatomical site Gene SetFrom HPO Gene-Disease Associations genes associated with the tremor by anatomical site phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
head tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the head tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
action tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the action tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
postural tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the postural tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Tremor Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Tremor phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Essential Tremor Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Essential Tremor phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
tremor, hereditary essential, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the tremor, hereditary essential, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
tremor, hereditary essential, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the tremor, hereditary essential, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
tremor, hereditary essential, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the tremor, hereditary essential, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{essential tremor, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {essential tremor, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Essential Tremor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Essential Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tremor, Rubral Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tremor, Rubral in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Tremor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tremor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor Of Hands Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor Of Hands in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Action Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Action Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intention Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intention Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Coarse Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Coarse Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Continuous Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Continuous Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Darkness Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Darkness Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fine Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fine Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intermittent Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intermittent Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Massive Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Massive Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Passive Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Passive Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Persistent Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Persistent Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pill Rolling Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pill Rolling Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Resting Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Resting Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Saturnine Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Saturnine Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Senile Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Senile Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Static Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Static Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Muscle Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Muscle in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Neonatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Perioral Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Perioral in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Semirhythmic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Semirhythmic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Head Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Head Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Kinetic Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Kinetic Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Postural Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Postural Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Vocal Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Vocal Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Orthostatic Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orthostatic Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor By Anatomical Site Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor By Anatomical Site in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Essential tremor Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Essential tremor in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Essential tremor 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Essential tremor 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Resting tremor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Resting tremor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tremor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tremor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Essential tremor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Essential tremor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Essential tremor Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Essential tremor phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Parkinson's disease motor subtype (tremor dominant vs postural instability/gait difficulty) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Parkinson's disease motor subtype (tremor dominant vs postural instability/gait difficulty) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Parkinson's disease motor subtype (tremor to postural instability/gait difficulty score ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Parkinson's disease motor subtype (tremor to postural instability/gait difficulty score ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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. |
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. |
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. |
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. |
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. |
?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. |
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. |
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. |
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. |
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. |
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, 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. |
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-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. |
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. |
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. |
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. |
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. |
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. |
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. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Spinocerebellar ataxia, autosomal recessive 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Ataxia Telangiectasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia Telangiectasia 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Ataxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
?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. |
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. |
?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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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, nonprogressive, with mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, nonprogressive, with mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia 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. |
?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. |
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. |
?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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
ataxia-telangiectasia Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease ataxia-telangiectasia 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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 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 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Spinocerebellar ataxia Gene SetFrom KEGG Pathways 2026 proteins participating in the Spinocerebellar ataxia pathway from the KEGG Pathways 2026 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sjögren-Larsson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UV-sensitive syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Char syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PTEN hamartoma tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lesch-Nyhan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mohr-Tranebjaerg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopenic nonfracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 2q32-q33 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borrone Di Rocco Crovato syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hurler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hajdu-Cheney syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy preaxial brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bannayan-Riley-Ruvalcaba syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chudley-McCullough syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bosch-boonstra-schaaf optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frank Ter Haar syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Androgen resistance syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holt-Oram syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Young Simpson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meier-Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane-radial ray syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa-corneal clouding-oligophrenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TNF receptor-associated periodic fever syndrome (TRAPS) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 1q43-q44 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roberts-SC phocomelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rienhoff syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kohlschutter's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebro-oculo-facio-skeletal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wiskott-Aldrich syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyper-IgE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamstorp-Wohlfart syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyaline fibromatosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Richieri Costa Pereira syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Costello syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky Pudlak syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jankovic Rivera syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi-Bickel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith-Lemli-Opitz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, X-linked recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenomatous polyposis coli:Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XFE progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Johanson-Blizzard syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutrophil immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pierson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tricho-dento-osseous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mowat-Wilson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |