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: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.600 strong 1.000 26 1 1984 2018
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
Q9GZU1 mucolipin 1 Ion channel 102 0.601 0.654 5.8E-04 0.450 None 1.000 11 1 2000 2015
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.200 None 0.947 19 7 2005 2020
Entrez Id: 84572
Gene Symbol: GNPTG
GNPTG
Q9UJJ9 N-acetylglucosamine-1-phosphate transferase subunit gamma Enzyme 36 0.705 0.423 4.6E-09 0.130 None 0.667 3 1 2012 2019
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.040 None 1.000 4 0 1982 2015
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.030 None 1.000 3 0 1998 2010
Entrez Id: 9148
Gene Symbol: NEURL1
NEURL1
O76050 neuralized E3 ubiquitin protein ligase 1 Enzyme 103 0.556 0.538 1.1E-02 0.020 None 1.000 2 0 2003 2018
Entrez Id: 51162
Gene Symbol: EGFL7
EGFL7
Q9UHF1 EGF like domain multiple 7 Calcium-binding protein 68 0.612 0.577 5.5E-18 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51172
Gene Symbol: NAGPA
NAGPA
Q9UK23 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 11 0.792 0.269 3.0E-12 0.010 None < 0.001 1 0 2012 2012
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 2018 2018
Entrez Id: 3423
Gene Symbol: IDS
IDS
P22304 iduronate 2-sulfatase 136 0.559 0.769 0.95 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.010 None 1.000 1 0 1986 1986
Entrez Id: 2519
Gene Symbol: FUCA2
FUCA2
Q9BTY2 alpha-L-fucosidase 2 7 0.821 0.423 4.4E-07 0.010 None 1.000 1 0 1985 1985
Entrez Id: 2090
Gene Symbol: ESA4
ESA4
esterase A4 2 1.000 0.154 0.010 None 1.000 1 0 1981 1981
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
P04626 erb-b2 receptor tyrosine kinase 2 Kinase 995 0.328 0.923 6.0E-03 0.010 None 1.000 1 0 2003 2003
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 94 0.621 0.538 1.1E-05 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.010 None 1.000 1 0 2003 2003
Entrez Id: 1118
Gene Symbol: CHIT1
CHIT1
Q13231 chitinase 1 142 0.525 0.692 7.2E-16 0.010 None 1.000 1 0 2009 2009
Entrez Id: 10724
Gene Symbol: OGA
OGA
O60502 O-GlcNAcase 140 0.534 0.731 0.97 0.010 None 1.000 1 0 1981 1981