Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 149647
Gene Symbol: FAM71A
FAM71A
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: 399823
Gene Symbol: FOXI2
FOXI2
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: 56952
Gene Symbol: PRTFDC1
PRTFDC1
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: 10004
Gene Symbol: NAALADL1
NAALADL1
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: 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: 10265
Gene Symbol: IRX5
IRX5
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: 84255
Gene Symbol: SLC37A3
SLC37A3
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: 390595
Gene Symbol: UBAP1L
UBAP1L
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: 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: 114902
Gene Symbol: C1QTNF5
C1QTNF5
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 11333
Gene Symbol: PDAP1
PDAP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 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: 64218
Gene Symbol: SEMA4A
SEMA4A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker GENOMICS_ENGLAND We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD). 16199541

2006
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 130557
Gene Symbol: ZNF513
ZNF513
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 6100
Gene Symbol: RP9
RP9
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 25794
Gene Symbol: FSCN2
FSCN2
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.350 Biomarker GENOMICS_ENGLAND

Entrez Id: 123016
Gene Symbol: TTC8
TTC8
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 Biomarker GENOMICS_ENGLAND

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

Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 24148
Gene Symbol: PRPF6
PRPF6
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 Biomarker GENOMICS_ENGLAND

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: 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