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: 7319
Gene Symbol: UBE2A
UBE2A 		ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		disease 0.700 definitive 1.000 0 4 2006 2018
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.110 None 1.000 8 1 2006 2018
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 8 1 2006 2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 8 1 2006 2017