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: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		disease 0.700 None 1.000 1 7 2006 2017
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.500 None 1.000 0 1 2008 2019
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		disease 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C1864785
Disease: Normal kidneys
Normal kidneys 		phenotype 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C2881341
Disease: Hypermetropia, bilateral
Hypermetropia, bilateral 		disease 0.100 None 0 1