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: 2731
Gene Symbol: GLDC
GLDC
P23378 glycine decarboxylase Enzyme 78 0.628 0.577 6.6E-28 1.000 definitive 0.982 56 136 1990 2020
Entrez Id: 275
Gene Symbol: AMT
AMT
P48728 aminomethyltransferase 60 0.674 0.692 2.7E-03 0.800 definitive 1.000 31 44 1983 2019
Entrez Id: 2653
Gene Symbol: GCSH
GCSH
P23434 glycine cleavage system protein H 34 0.760 0.385 1.6E-03 0.690 limited 1.000 9 1 1990 2016
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
P48067 solute carrier family 6 member 9 Transporter 71 0.641 0.500 2.2E-05 0.220 None 1.000 3 0 2003 2019
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
Q86SX6 glutaredoxin 5 Enzyme 70 0.659 0.538 0.75 0.120 None 1.000 2 0 2014 2015
Entrez Id: 132158
Gene Symbol: GLYCTK
GLYCTK
Q8IVS8 glycerate kinase Kinase 23 0.751 0.308 9.7E-11 0.100 None 0 0
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
O14896 interferon regulatory factor 6 Transcription factor 233 0.486 0.769 1.00 0.100 None 0 0
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.090 None 1.000 9 0 1991 2005
Entrez Id: 11019
Gene Symbol: LIAS
LIAS
O43766 lipoic acid synthetase 43 0.695 0.538 2.3E-05 0.030 None 1.000 3 0 2014 2017
Entrez Id: 2729
Gene Symbol: GCLC
GCLC
P48506 glutamate-cysteine ligase catalytic subunit Enzyme 198 0.509 0.885 0.43 0.020 None 1.000 2 0 2006 2011
Entrez Id: 7357
Gene Symbol: UGCG
UGCG
Q16739 UDP-glucose ceramide glucosyltransferase Enzyme 111 0.560 0.808 0.94 0.020 None 1.000 2 0 2006 2011
Entrez Id: 4245
Gene Symbol: MGAT1
MGAT1
P26572 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 52 0.674 0.538 0.99 0.010 None 1.000 1 0 2019 2019
Entrez Id: 780904
Gene Symbol: PSS
PSS
Potocki-Shaffer syndrome 66 0.608 0.654 0.010 None 1.000 1 0 1991 1991
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.010 None 1.000 1 0 2015 2015
Entrez Id: 27087
Gene Symbol: B3GAT1
B3GAT1
Q9P2W7 beta-1,3-glucuronyltransferase 1 Enzyme 199 0.494 0.769 0.14 0.010 None 1.000 1 0 1991 1991
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC
P08575 protein tyrosine phosphatase receptor type C Enzyme 366 0.435 0.808 1.00 0.010 None 1.000 1 0 1991 1991
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8
P45983 mitogen-activated protein kinase 8 Kinase 520 0.397 0.885 1.00 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3
P27361 mitogen-activated protein kinase 3 Kinase 647 0.379 0.885 3.7E-02 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1
Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
Q53S33 bolA family member 3 26 0.760 0.231 0.15 0.010 None 1.000 1 0 2014 2014
Entrez Id: 930
Gene Symbol: CD19
CD19
P15391 CD19 molecule 365 0.430 0.885 0.90 0.010 None 1.000 1 0 1991 1991