Source: ANIMAL_MODELS

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: 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: 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: 23568
Gene Symbol: ARL2BP
ARL2BP
ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 limited 1.000 1 0 2013 2018
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: 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: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2007 2007
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: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.531 0.731 0.98
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2011 2011
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: 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: 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: 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: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 0 0
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: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2009 2009