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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.577 0.552 5.4E-06
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 12 0 1966 2008
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.639 0.310 1.4E-35
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 9 0 1956 2011
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.564 0.690 1.5E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 8 0 1997 2017
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
RPE65, retinoid isomerohydrolase 0.479 0.759 9.1E-14
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 7 0 1998 2008
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.627 0.448 4.4E-25
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 5 0 2001 2013
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.590 0.517 0.54
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 5 0 1999 2014
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.577 0.621 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 4 0 2000 2012
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1, axonemal microtubule associated 0.659 0.483 4.6E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 4 0 2002 2016
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.621 0.379 2.1E-27
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 4 0 2000 2013
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.639 0.345
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 4 0 2004 2007
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.656 0.241 1.2E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 4 0 2004 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.546 0.724 1.8E-54
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 3 0 2007 2013
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.656 0.483 4.9E-17
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 3 0 2003 2014
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.690 0.241 4.2E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 3 0 1992 2008
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.567 0.448 3.4E-20
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 3 0 2003 2017
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.656 0.379 1.6E-08
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 3 0 2009 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs 1, cell polarity complex component 0.579 0.552 8.4E-16
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2003 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2007 2008
Entrez Id: 9497
Gene Symbol: SLC4A7
SLC4A7
solute carrier family 4 member 7 0.743 0.345 0.48
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2003 2005
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.602 0.621 2.6E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2008 2011
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
EGF containing fibulin extracellular matrix protein 1 0.572 0.552 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2008 2008
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.588 0.379 0.14
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 1985 2002
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2, ARL3 GTPase activating protein 0.667 0.379 0.96
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2013 2015
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
tubby like protein 1 0.636 0.345 5.3E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 2 0 2000 2001
Entrez Id: 25794
Gene Symbol: FSCN2
FSCN2
fascin actin-bundling protein 2, retinal 0.659 0.414 5.0E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 1 0 2005 2005