Source: HPO

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: 2036
Gene Symbol: EPB41L1
EPB41L1 		erythrocyte membrane protein band 4.1 like 1 0.839 0.192 0.88
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 limited 1.000 0 0 2011 2011
Entrez Id: 2036
Gene Symbol: EPB41L1
EPB41L1 		erythrocyte membrane protein band 4.1 like 1 0.839 0.192 0.88
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 0