Source: GENOMICS_ENGLAND

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: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease 0.900 strong 1.000 0 0 2005 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		disease 0.900 None 1.000 0 0 2006 2016
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		disease 0.720 None 1.000 0 0 2003 2012
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.700 limited 1.000 0 0 2003 2020