Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 24123792

2013
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862

2010
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). 16098056

2005
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. 12673275

2003
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR CNGA3 mutations in hereditary cone photoreceptor disorders. 11536077

2001
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 11536079

2001
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR Genetic basis of total colourblindness among the Pingelapese islanders. 10888875

2000
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation CLINVAR

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 5950
Gene Symbol: RBP4
RBP4
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 60506
Gene Symbol: NYX
NYX
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR

Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation CLINVAR