Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. 31505163

2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. 29131652

2017
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Genetic background-dependent role of Egr1 for eyelid development. 28778995

2017
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. 28413837

2017
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. 28677725

2017
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440

2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 25227500

2015
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 25091951

2014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes. 25148430

2014
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. 23454480

2013
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Mutations in GRIP1 cause Fraser syndrome. 22510445

2012
Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. 21738648

2011
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND RDH12 retinopathy: novel mutations and phenotypic description. 22065924

2011
Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. 21405999

2011
Entrez Id: 4117
Gene Symbol: MAK
MAK
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. 21148103

2010
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 20033184

2010
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND The embryonic expression patterns and the knockdown phenotypes of zebrafish ADP-ribosylation factor-like 6 interacting protein gene. 19097054

2009
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. 18541977

2008
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Mutation analysis of B3GALTL in Peters Plus syndrome. 18798333

2008
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674

2005
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. 15838507

2005
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652

2004
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND The tyrosinase related protein-1 (Tyrp1) promoter in transgenic experiments: targeted expression to the retinal pigment epithelium. 10644000

1999
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND