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: 2531
Gene Symbol: KDSR
KDSR 		3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		disease 0.310 None 1.000 1 0 2017 2019