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: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		disease 0.900 None 1.000 0 4 1998 2014
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.800 strong 0.955 1 2 1998 2019
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.800 strong 1.000 0 3 1997 2018
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease 0.800 None 1.000 0 5 1997 2019
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease 0.130 None 1.000 0 1 2018 2019
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.110 None 1.000 0 2 2014 2014
Entrez Id: 1406
Gene Symbol: CRX
CRX 		cone-rod homeobox 0.565 0.692 0.51
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		phenotype 0.100 None 0 3