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: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease 0.340 None 1.000 1 0 2010 2016
Entrez Id: 6303
Gene Symbol: SAT1
SAT1 		spermidine/spermine N1-acetyltransferase 1 0.539 0.808 0.87
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease 0.320 None 1.000 1 0 2002 2014
Entrez Id: 4035
Gene Symbol: LRP1
LRP1 		LDL receptor related protein 1 0.482 0.769 1.00
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease 0.300 None 1.000 1 0 2015 2015