Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker GENOMICS_ENGLAND After a WES analysis, we identified 4 new mutations (p.Arg107Glufs*8, p.Trp159*, p.Arg186Pro, and p.Thr202Ile) in ABHD12 in 2 families (RP-1292 and W08-1833) previously diagnosed with nonsyndromic arRP, which cosegregated with the disease among the family members. 24697911

2014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.550 Biomarker GENOMICS_ENGLAND

Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker GENOMICS_ENGLAND These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. 21282186

2011
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker GENOMICS_ENGLAND These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. 21282186

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. 23143442

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.950 Biomarker GENOMICS_ENGLAND

Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 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: 221960
Gene Symbol: CCZ1B
CCZ1B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 Biomarker GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 Biomarker GENOMICS_ENGLAND

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 Biomarker GENOMICS_ENGLAND

Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 Biomarker GENOMICS_ENGLAND

Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 9696
Gene Symbol: CROCC
CROCC
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 Biomarker GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 Biomarker GENOMICS_ENGLAND