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: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.030 None 1.000 3 0 1992 1994
Entrez Id: 7038
Gene Symbol: TG
TG
P01266 thyroglobulin Enzyme modulator 240 0.480 0.808 2.9E-59 0.030 None 1.000 3 0 1996 2009
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.020 None 1.000 2 0 2004 2008
Entrez Id: 175
Gene Symbol: AGA
AGA
P20933 aspartylglucosaminidase Enzyme 143 0.570 0.808 4.3E-06 0.020 None 1.000 2 0 1993 1994
Entrez Id: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 190 0.537 0.769 1.00 0.020 None 1.000 2 0 2010 2012
Entrez Id: 10724
Gene Symbol: OGA
OGA
O60502 O-GlcNAcase 140 0.534 0.731 0.97 0.010 None 1.000 1 0 2009 2009
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.010 None 1.000 1 0 1997 1997
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
Q9H222 ATP binding cassette subfamily G member 5 Transporter 108 0.592 0.577 3.1E-21 0.010 None 1.000 1 0 2010 2010
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
Q9H221 ATP binding cassette subfamily G member 8 Transporter 116 0.573 0.538 2.4E-20 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 2017 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.010 None 1.000 1 0 1989 1989
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
P07911 uromodulin 164 0.520 0.846 3.1E-17 0.010 None 1.000 1 0 2019 2019
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 2017 2017
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.010 None 1.000 1 0 2010 2010
Entrez Id: 53632
Gene Symbol: PRKAG3
PRKAG3
Q9UGI9 protein kinase AMP-activated non-catalytic subunit gamma 3 Enzyme modulator 13 0.792 0.308 4.6E-12 0.010 None < 0.001 1 0 2003 2003
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 120 0.572 0.692 1.3E-07 0.010 None 1.000 1 0 1999 1999
Entrez Id: 149175
Gene Symbol: MANEAL
MANEAL
Q5VSG8 mannosidase endo-alpha like 3 4.9E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2266
Gene Symbol: FGG
FGG
P02679 fibrinogen gamma chain Signaling 70 0.633 0.615 5.0E-02 0.010 None 1.000 1 1 2015 2015
Entrez Id: 2799
Gene Symbol: GNS
GNS
P15586 glucosamine (N-acetyl)-6-sulfatase Enzyme 51 0.705 0.538 5.6E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
P08236 glucuronidase beta 183 0.530 0.846 4.0E-08 0.010 None 1.000 1 0 1990 1990
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.010 None 1.000 1 0 2009 2009
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 2011 2011
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
P38571 lipase A, lysosomal acid type Enzyme 130 0.564 0.654 5.5E-07 0.010 None 1.000 1 0 2013 2013