Source: MGD

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: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease 0.600 None 1.000 0 0 1990 2017
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease 0.210 None 1.000 2 0 1997 2010
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease 0.200 None 1.000 3 0 1973 2005
Entrez Id: 8443
Gene Symbol: GNPAT
GNPAT 		glyceronephosphate O-acyltransferase 0.663 0.462 0.30
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease 0.200 None 1.000 2 0 2003 2009
Entrez Id: 8540
Gene Symbol: AGPS
AGPS 		alkylglycerone phosphate synthase 0.670 0.538 1.00
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease 0.200 None 1.000 2 0 2006 2011