×
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
Retinitis Pigmentosa
0.660
Biomarker
GENOMICS_ENGLAND
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
31505163 2019
×
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A
Retinitis Pigmentosa
0.510
Biomarker
GENOMICS_ENGLAND
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.
30478029 2018
×
Entrez Id: 149647
Gene Symbol: FAM71A
FAM71A
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
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
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
NAALADL1
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
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
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
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
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
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: 26090
Gene Symbol: ABHD12
ABHD12
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: 92840
Gene Symbol: REEP6
REEP6
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: 582
Gene Symbol: BBS1
BBS1
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: 2979
Gene Symbol: GUCA1B
GUCA1B
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: 84100
Gene Symbol: ARL6
ARL6
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
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: 4117
Gene Symbol: MAK
MAK
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: 64218
Gene Symbol: SEMA4A
SEMA4A
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: 6101
Gene Symbol: RP1
RP1
Retinitis Pigmentosa
0.500
Biomarker
GENOMICS_ENGLAND
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa .
15863674 2005
×
Entrez Id: 762
Gene Symbol: CA4
CA4
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: 582
Gene Symbol: BBS1
BBS1
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
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: 157657
Gene Symbol: C8orf37
C8orf37
Retinitis Pigmentosa
0.950
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
Retinitis Pigmentosa
0.900
Biomarker
GENOMICS_ENGLAND