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: 2531
Gene Symbol: KDSR
KDSR
3-ketodihydrosphingosine reductase 0.674 0.538 0.12
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
disease 0.600 None 1.000 1 0 2017 2017
Entrez Id: 2531
Gene Symbol: KDSR
KDSR
3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
group 0.300 strong 1.000 1 0 2017 2017