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: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.621 0.379 2.1E-27
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.890 1.000 8 14 1992 2017
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.656 0.379 1.6E-08
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.850 1.000 2 1 2002 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.685 0.310 1.6E-23
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.840 1.000 3 3 1996 2017
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.590 0.517 0.54
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.800 0.964 0 2 1997 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.636 0.345 2.2E-91
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 1.000 15 34 1993 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog (Drosophila) 0.685 0.345 3.5E-40
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 1.000 6 23 2005 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 0.957 6 6 1998 2018
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.564 0.690 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 0.977 5 10 1981 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs 1, cell polarity complex component 0.579 0.552 8.4E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 1.000 3 6 1999 2018
Entrez Id: 10461
Gene Symbol: MERTK
MERTK
MER proto-oncogene, tyrosine kinase 0.557 0.690 2.7E-11
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 1.000 2 4 2000 2017
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.577 0.621 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 0.983 1 7 1995 2017
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
inosine monophosphate dehydrogenase 1 0.619 0.448 1.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 1.000 1 1 2002 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
RPE65, retinoid isomerohydrolase 0.479 0.759 9.1E-14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.690 1.000 0 2 1998 2016
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
retinal outer segment membrane protein 1 0.639 0.483 2.6E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 1.000 1 2 1992 2015
Entrez Id: 4901
Gene Symbol: NRL
NRL
neural retina leucine zipper 0.659 0.345 5.2E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.660 0.500 0 1 1999 2013
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.652 0.345 3.1E-09
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.660 1.000 0 2 2004 2013
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel alpha 1 0.701 0.310 3.1E-11
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.640 1.000 3 6 1995 2017
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
cyclic nucleotide gated channel beta 1 0.663 0.517 3.5E-37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.630 0.667 2 8 2001 2017
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.659 0.414 5.8E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.610 1.000 2 1 2009 2017
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.602 0.621 2.6E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.600 0 1
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1, axonemal microtubule associated 0.659 0.483 4.6E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 1.000 3 7 1999 2017
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
pre-mRNA processing factor 8 0.690 0.414 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 0.900 2 1 2001 2017
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.588 0.379 0.14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 0.946 2 4 1991 2017
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.690 0.310 4.3E-22
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 1.000 2 2 2004 2017
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
tubby like protein 1 0.636 0.345 5.3E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 1.000 0 2 1997 2016