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: 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: 7139
Gene Symbol: TNNT2
TNNT2
P45379 troponin T2, cardiac type Cellular structure 79 0.601 0.423 2.0E-03 0.300 None 1.000 1 0 2016 2016
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.100 None 0.993 136 3 1976 2019
Entrez Id: 6476
Gene Symbol: SI
SI
P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.100 None 0.993 136 1 1976 2019
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: 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: 51422
Gene Symbol: PRKAG2
PRKAG2
Q9UGJ0 protein kinase AMP-activated non-catalytic subunit gamma 2 Enzyme modulator 122 0.582 0.654 1.00 0.030 None 1.000 3 0 2005 2017
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: 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: 7942
Gene Symbol: TFEB
TFEB
P19484 transcription factor EB 150 0.527 0.731 0.90 0.020 None 1.000 2 0 2017 2017
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: 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: 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: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8987
Gene Symbol: STBD1
STBD1
O95210 starch binding domain 1 3 0.890 0.115 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 54579
Gene Symbol: UGT1A5
UGT1A5
P35504 UDP glucuronosyltransferase family 1 member A5 53 0.656 0.462 9.4E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54578
Gene Symbol: UGT1A6
UGT1A6
P19224 UDP glucuronosyltransferase family 1 member A6 115 0.560 0.654 3.0E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54577
Gene Symbol: UGT1A7
UGT1A7
Q9HAW7 UDP glucuronosyltransferase family 1 member A7 125 0.550 0.692 8.7E-14 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54576
Gene Symbol: UGT1A8
UGT1A8
Q9HAW9 UDP glucuronosyltransferase family 1 member A8 90 0.588 0.654 1.3E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54575
Gene Symbol: UGT1A10
UGT1A10
Q9HAW8 UDP glucuronosyltransferase family 1 member A10 88 0.588 0.615 4.6E-19 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54600
Gene Symbol: UGT1A9
UGT1A9
O60656 UDP glucuronosyltransferase family 1 member A9 94 0.590 0.577 5.4E-08 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4
P22310 UDP glucuronosyltransferase family 1 member A4 84 0.595 0.654 6.0E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
P22309 UDP glucuronosyltransferase family 1 member A1 302 0.464 0.769 3.3E-06 0.010 None 1.000 1 0 2017 2017
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: 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