Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
P61916 NPC intracellular cholesterol transporter 2 81 0.612 0.769 1.8E-03 0.100 None 0 2
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
P38571 lipase A, lysosomal acid type Enzyme 130 0.564 0.654 5.5E-07 0.100 None 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.100 None 0 0
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 0 0