Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2004 2004
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 2 1 2002 2016
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 2 2016 2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 3 10 2000 2018
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 4
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.420 None 1.000 0 6 2002 2006
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 2 3 1999 2003
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 7 2019 2019
Entrez Id: 6247
Gene Symbol: RS1
RS1
retinoschisin 1 0.686 0.500 0.96
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 None 1.000 1 2 2004 2019
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 2 2015 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.500 None 1.000 2 2 1997 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 None 1.000 1 3 2002 2019
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 1 1999 2016
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 7 11 2008 2016
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
pre-mRNA processing factor 8 0.631 0.615 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.531 0.731 0.98
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 6 2015 2016
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 3 2011 2011
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 3 1 2014 2015
Entrez Id: 51090
Gene Symbol: PLLP
PLLP
plasmolipin 0.805 0.269 9.2E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2010 2010
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.400 strong 1.000 0 4 2018 2018
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 1 2017 2017
Entrez Id: 23469
Gene Symbol: PHF3
PHF3
PHD finger protein 3 0.760 0.192 0.99
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 2 2016 2016