Source: ALL

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: 6609
Gene Symbol: SMPD1
SMPD1 		sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.800 strong 1.000 84 98 1991 2020
Entrez Id: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.040 None 1.000 4 0 2013 2019
Entrez Id: 256933
Gene Symbol: NPB
NPB 		neuropeptide B 0.792 0.385 9.9E-02
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.020 None 1.000 2 0 2003 2005
Entrez Id: 1118
Gene Symbol: CHIT1
CHIT1 		chitinase 1 0.525 0.692 7.2E-16
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 491
Gene Symbol: ATP2B2
ATP2B2 		ATPase plasma membrane Ca2+ transporting 2 0.659 0.731 1.00
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.010 None 1.000 1 0 2017 2017