Source: ORPHANET

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: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 0.700 None 1.000 1 0 1996 2019
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		disease 0.350 None 1.000 1 0 1998 2019
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease 0.300 None 1.000 1 0 2012 2012