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: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive 		disease 0.700 None 1.000 0 4 2006 2006
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease 0.100 None 0 1
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 0 1