Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.410 Biomarker HPO

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.200 Biomarker HPO

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.140 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 Biomarker HPO

Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 Biomarker HPO

Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.120 Biomarker HPO

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 167691
Gene Symbol: LCA5
LCA5
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 146167
Gene Symbol: SLC38A8
SLC38A8
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2017