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: 54332
Gene Symbol: GDAP1
GDAP1
ganglioside induced differentiation associated protein 1 0.612 0.538 3.2E-08
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.700 moderate 0.987 0 0 1993 2019
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.310 strong 1.000 1 0 2004 2018
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2
serine palmitoyltransferase long chain base subunit 2 0.736 0.346 0.78
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.300 strong 1.000 1 0 2010 2010