Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 4644
Gene Symbol: MYO5A
MYO5A
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

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

Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 9711
Gene Symbol: RUBCN
RUBCN
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR