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: 8518
Gene Symbol: ELP1
ELP1
elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 1.000 None 1.000 4 0 1993 2019
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2
serine palmitoyltransferase long chain base subunit 2 0.736 0.346 0.78
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 0.300 strong 1.000 1 0 2010 2010