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 0.780 None 1.000 24 22 2000 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.040 None 1.000 4 0 2000 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 168 0.547 0.769 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
O95477 ATP binding cassette subfamily A member 1 Transporter 291 0.467 0.846 1.5E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 257194
Gene Symbol: NEGR1
NEGR1
Q7Z3B1 neuronal growth regulator 1 40 0.695 0.577 0.99 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
P01130 low density lipoprotein receptor 336 0.449 0.885 9.8E-24 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
P01375 tumor necrosis factor Signaling 2724 0.231 0.962 0.80 0.010 None 1.000 1 0 2018 2018