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: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 190 0.537 0.769 1.00 0.100 None 1.000 59 3 1996 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0.971 35 2 1983 2019
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 1.000 32 0 1995 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 1.000 26 1 1992 2020
Entrez Id: 3423
Gene Symbol: IDS
IDS
P22304 iduronate 2-sulfatase 136 0.559 0.769 0.95 0.100 None 1.000 23 0 1993 2019
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
Q9GZU1 mucolipin 1 Ion channel 102 0.601 0.654 5.8E-04 0.100 None 0.955 22 0 2001 2019
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.100 None 1.000 19 0 1993 2017
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
P51688 N-sulfoglucosamine sulfohydrolase Enzyme 80 0.638 0.692 1.0E-04 0.100 None 1.000 17 0 1998 2019
Entrez Id: 175
Gene Symbol: AGA
AGA
P20933 aspartylglucosaminidase Enzyme 143 0.570 0.808 4.3E-06 0.100 None 1.000 15 0 1991 2018
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
P34059 galactosamine (N-acetyl)-6-sulfatase Enzyme 138 0.560 0.808 3.0E-10 0.100 None 1.000 14 0 1994 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
P28799 granulin precursor 412 0.435 0.846 7.0E-02 0.100 None 0.929 14 0 2014 2019
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 1.000 14 0 2010 2020
Entrez Id: 411
Gene Symbol: ARSB
ARSB
P15848 arylsulfatase B 96 0.595 0.692 7.0E-09 0.100 None 1.000 13 0 1991 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 120 0.572 0.692 1.3E-07 0.100 None 1.000 13 0 2000 2019
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
P08236 glucuronidase beta 183 0.530 0.846 4.0E-08 0.100 None 1.000 12 0 1985 2019
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.100 None 0.917 12 1 2005 2019
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
glucosylceramidase beta pseudogene 1 64 0.623 0.538 0.100 None 0.909 11 0 1983 2014
Entrez Id: 10724
Gene Symbol: OGA
OGA
O60502 O-GlcNAcase 140 0.534 0.731 0.97 0.100 None 1.000 10 0 1977 2016
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
P61916 NPC intracellular cholesterol transporter 2 81 0.612 0.769 1.8E-03 0.100 None 1.000 10 0 2011 2019
Entrez Id: 6476
Gene Symbol: SI
SI
P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.100 None 1.000 10 0 1995 2019
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.100 None 1.000 10 0 1995 2019
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
P19484 transcription factor EB 150 0.527 0.731 0.90 0.090 None 0.889 9 0 2011 2019
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.080 None 0.750 8 0 2001 2019
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 0.080 None 1.000 8 1 2005 2019
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
P50897 palmitoyl-protein thioesterase 1 Enzyme 112 0.593 0.808 4.9E-05 0.070 None 1.000 7 0 1999 2017