Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 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: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.550 Biomarker GENOMICS_ENGLAND

Entrez Id: 92840
Gene Symbol: REEP6
REEP6
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.530 Biomarker GENOMICS_ENGLAND Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. 24691551

2014
Entrez Id: 5995
Gene Symbol: RGR
RGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.530 Biomarker GENOMICS_ENGLAND

Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.520 Biomarker GENOMICS_ENGLAND Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. 21405999

2011
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.510 Biomarker GENOMICS_ENGLAND Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function. 30478029

2018
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 3420
Gene Symbol: IDH3B
IDH3B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 Biomarker GENOMICS_ENGLAND Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674

2005
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 23020
Gene Symbol: SNRNP200
SNRNP200
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 Biomarker GENOMICS_ENGLAND

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

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

Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.480 Biomarker GENOMICS_ENGLAND

Entrez Id: 4117
Gene Symbol: MAK
MAK
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 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: 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: 768206
Gene Symbol: PRCD
PRCD
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.460 Biomarker GENOMICS_ENGLAND

Entrez Id: 9129
Gene Symbol: PRPF3
PRPF3
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.450 Biomarker GENOMICS_ENGLAND

Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker GENOMICS_ENGLAND

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