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: 79188
Gene Symbol: TMEM43
TMEM43 		transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		disease 0.700 None 1.000 4 2 2008 2017
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		disease 0.600 None 1.000 0 1 2011 2017
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.420 None 1.000 0 1 2013 2019
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.200 None 1.000 6 1 2008 2019