Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
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: 8398
Gene Symbol: PLA2G6
PLA2G6
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: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 GeneticVariation CLINVAR

Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
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: 4541
Gene Symbol: ND6
ND6
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 GeneticVariation CLINVAR

Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
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: 4308
Gene Symbol: TRPM1
TRPM1
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: 167691
Gene Symbol: LCA5
LCA5
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker HPO

Entrez Id: 576
Gene Symbol: ADGRB2
ADGRB2
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236

2017

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

2016

Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012