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: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.100 None 1.000 4 3 2002 2013
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		disease 0.100 None 1.000 3 1 2002 2011
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 1
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group 0.100 None 0 1
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		disease 0.100 None 0 2