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: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.010 None 1.000 1 0 2000 2000
Entrez Id: 89
Gene Symbol: ACTN3
ACTN3
Q08043 actinin alpha 3 (gene/pseudogene) 41 0.663 0.500 0.010 None 1.000 1 0 2014 2014
Entrez Id: 17
Gene Symbol: AAVS1
AAVS1
adeno-associated virus integration site 1 78 0.595 0.731 0.020 None 1.000 2 0 2018 2019
Entrez Id: 262
Gene Symbol: AMD1
AMD1
P17707 adenosylmethionine decarboxylase 1 Enzyme 84 0.593 0.577 0.98 0.010 None 1.000 1 0 1976 1976
Entrez Id: 263
Gene Symbol: AMD1P2
AMD1P2
adenosylmethionine decarboxylase 1 pseudogene 2 71 0.608 0.538 0.010 None 1.000 1 0 1976 1976
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.020 None 1.000 2 0 2019 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.020 None 1.000 2 0 2010 2018
Entrez Id: 411
Gene Symbol: ARSB
ARSB
P15848 arylsulfatase B 96 0.595 0.692 7.0E-09 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
P23786 carnitine palmitoyltransferase 2 Enzyme 187 0.542 0.769 4.6E-10 0.010 None 1.000 1 0 2010 2010
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Q4G0X9 coiled-coil domain containing 40 49 0.656 0.538 3.8E-17 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1719
Gene Symbol: DHFR
DHFR
P00374 dihydrofolate reductase Enzyme 191 0.513 0.808 3.4E-02 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1999
Gene Symbol: ELF3
ELF3
P78545 E74 like ETS transcription factor 3 Transcription factor 112 0.551 0.808 0.98 0.030 None 1.000 3 0 2018 2020
Entrez Id: 2523
Gene Symbol: FUT1
FUT1
P19526 fucosyltransferase 1 (H blood group) Enzyme 136 0.541 0.692 5.5E-04 0.010 None 1.000 1 0 2009 2009
Entrez Id: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 190 0.537 0.769 1.00 0.020 None 1.000 2 0 2015 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: 2538
Gene Symbol: G6PC
G6PC
P35575 glucose-6-phosphatase catalytic subunit 132 0.560 0.692 1.8E-05 0.030 None 1.000 3 0 1983 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA
P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.600 limited 0.982 110 12 1976 2019
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
P46976 glycogenin 1 Enzyme 52 0.722 0.308 4.8E-12 0.010 None 1.000 1 0 2014 2014
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 2018 2018
Entrez Id: 22807
Gene Symbol: IKZF2
IKZF2
Q9UKS7 IKAROS family zinc finger 2 Transcription factor 39 0.656 0.500 0.99 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
P11717 insulin like growth factor 2 receptor Receptor 166 0.518 0.731 1.00 0.030 None 1.000 3 0 2012 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
P35858 insulin like growth factor binding protein acid labile subunit Receptor 203 0.511 0.846 5.4E-11 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 268 0.462 0.846 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
P13473 lysosomal associated membrane protein 2 Transporter 134 0.552 0.731 0.27 0.010 None 1.000 1 0 2005 2005