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: 6609
Gene Symbol: SMPD1
SMPD1
P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.700 None 1.000 84 22 1991 2020
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.240 None 1.000 4 0 2006 2019
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
P61916 NPC intracellular cholesterol transporter 2 81 0.612 0.769 1.8E-03 0.210 None 1.000 1 0 2013 2013
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 242 0.494 0.923 0.100 None 1.000 10 0 1991 2017
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
P07858 cathepsin B Enzyme 304 0.457 0.846 5.9E-11 0.020 None 1.000 2 0 2012 2019
Entrez Id: 1118
Gene Symbol: CHIT1
CHIT1
Q13231 chitinase 1 142 0.525 0.692 7.2E-16 0.020 None 1.000 2 0 2006 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.020 None 1.000 2 0 2004 2017
Entrez Id: 6721
Gene Symbol: SREBF2
SREBF2
Q12772 sterol regulatory element binding transcription factor 2 112 0.566 0.577 0.21 0.010 None 1.000 1 0 2007 2007
Entrez Id: 6610
Gene Symbol: SMPD2
SMPD2
O60906 sphingomyelin phosphodiesterase 2 28 0.686 0.423 3.6E-18 0.010 None 1.000 1 0 1986 1986
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
O00206 toll like receptor 4 1174 0.321 0.962 4.6E-09 0.010 None 1.000 1 0 2007 2007
Entrez Id: 10724
Gene Symbol: OGA
OGA
O60502 O-GlcNAcase 140 0.534 0.731 0.97 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6476
Gene Symbol: SI
SI
P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7272
Gene Symbol: TTK
TTK
P33981 TTK protein kinase Kinase 112 0.555 0.731 1.3E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6232
Gene Symbol: RPS27
RPS27
P42677 ribosomal protein S27 Nucleic acid binding 104 0.578 0.769 0.76 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10924
Gene Symbol: SMPDL3A
SMPDL3A
Q92484 sphingomyelin phosphodiesterase acid like 3A Enzyme 6 0.890 0.115 6.3E-21 0.010 None 1.000 1 0 2016 2016
Entrez Id: 348
Gene Symbol: APOE
APOE
P02649 apolipoprotein E 1049 0.338 0.962 1.9E-03 0.010 None 1.000 1 0 1992 1992
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3308
Gene Symbol: HSPA4
HSPA4
P34932 heat shock protein family A (Hsp70) member 4 550 0.394 0.923 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2761
Gene Symbol: GM2AP1
GM2AP1
GM2 ganglioside activator pseudogene 1 3 0.931 0.154 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 190 0.537 0.769 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.010 None 1.000 1 0 2018 2018
Entrez Id: 256933
Gene Symbol: NPB
NPB
Q8NG41 neuropeptide B 11 0.792 0.385 9.9E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 219972
Gene Symbol: MPEG1
MPEG1
Q2M385 macrophage expressed 1 98 0.575 0.731 3.6E-16 0.010 None 1.000 1 0 2017 2017
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 2003 2003
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.010 None 1.000 1 0 2018 2018