Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.440 Biomarker HPO

Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.440 GeneticVariation CLINVAR

Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.410 Biomarker HPO

Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.410 Biomarker HPO

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.400 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.400 Biomarker HPO

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

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.140 GeneticVariation CLINVAR

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
0.140 Biomarker HPO

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

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.140 GeneticVariation CLINVAR

Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
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: 6310
Gene Symbol: ATXN1
ATXN1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.120 Biomarker HPO

Entrez Id: 219285
Gene Symbol: SAMD9L
SAMD9L
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
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: 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: 196
Gene Symbol: AHR
AHR
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 5428
Gene Symbol: POLG
POLG
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: 4976
Gene Symbol: OPA1
OPA1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO