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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 12 0 1966 2011
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 9 0 1956 2017
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 8 0 1997 2017
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 7 0 1998 2008
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 5 0 1999 2014
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 5 0 2001 2014
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2000 2012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2004 2017
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2002 2014
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2004 2007
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2000 2013
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 3 0 2000 2014
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 3 0 2003 2017
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 3 0 2009 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 3 0 2007 2013
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 3 0 1992 2016
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2000 2001
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2013 2015
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2008 2011
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2016 2018
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 1985 2002
Entrez Id: 9497
Gene Symbol: SLC4A7
SLC4A7
solute carrier family 4 member 7 0.716 0.423 0.74
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2003 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2006 2008
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2003 2007
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2011 2011