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: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 169 0.547 0.769 6.5E-13 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
Q6NSJ0 myogenesis regulating glycosidase (putative) Enzyme 32 0.805 0.269 1.1E-11 0.100 None 0 0
Entrez Id: 720
Gene Symbol: C4A
C4A
P0C0L4 P0C0L5 complement C4A (Rodgers blood group) Enzyme modulator 145 0.563 0.769 1.5E-11 0.100 None 0 0
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
Q2NKJ3 CST telomere replication complex component 1 121 0.601 0.538 1.6E-11 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
P17050 alpha-N-acetylgalactosaminidase 86 0.647 0.538 1.8E-11 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 253 0.504 0.846 3.4E-11 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 0 0
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
P51659 hydroxysteroid 17-beta dehydrogenase 4 141 0.546 0.654 2.4E-10 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 0
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.100 None 0 1
Entrez Id: 2058
Gene Symbol: EPRS1
EPRS1
P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 65 0.644 0.538 1.0E-09 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.110 None 1.000 1 1 2015 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
Q93063 exostosin glycosyltransferase 2 Enzyme 137 0.576 0.654 1.3E-09 0.100 None 0 0
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
Q5TBB1 ribonuclease H2 subunit B 115 0.595 0.615 3.3E-09 0.100 None 0 0
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
Q15046 lysyl-tRNA synthetase 1 Enzyme 62 0.636 0.577 4.2E-09 0.100 None 0 2
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
O00206 toll like receptor 4 1174 0.321 0.962 4.6E-09 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 0 0
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.010 None 1.000 1 0 2010 2010
Entrez Id: 84197
Gene Symbol: POMK
POMK
Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 0.100 None 0 0
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
P04066 alpha-L-fucosidase 1 103 0.623 0.577 2.7E-08 0.100 None 0 0