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: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0426961
Disease: Dystonic posture
Dystonic posture
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0426961
Disease: Dystonic posture
Dystonic posture
phenotype 0.100 None 1.000 2 1 2016 2017