Source: ALL
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: 54119
Gene Symbol: EIM
EIM 		Infantile myoclonic epilepsy 8 0.839 0.269 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54363
Gene Symbol: HAO1
HAO1 		Q9UJM8 hydroxyacid oxidase 1 14 0.780 0.269 1.5E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 29958
Gene Symbol: DMGDH
DMGDH 		Q9UI17 dimethylglycine dehydrogenase Enzyme 15 0.890 0.154 2.1E-24 0.020 None 1.000 2 0 1999 2001
Entrez Id: 51179
Gene Symbol: HAO2
HAO2 		Q9NYQ3 hydroxyacid oxidase 2 Enzyme 22 0.736 0.308 6.0E-10 0.010 None 1.000 1 0 2016 2016
Entrez Id: 64902
Gene Symbol: AGXT2
AGXT2 		Q9BYV1 alanine--glyoxylate aminotransferase 2 25 0.729 0.385 3.7E-28 0.300 None 1.000 1 0 2011 2011
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		O14678 ATP binding cassette subfamily D member 4 Transporter 26 0.769 0.308 1.3E-12 0.300 None 1.000 1 0 2012 2012
Entrez Id: 2582
Gene Symbol: GALE
GALE 		Q14376 UDP-galactose-4-epimerase 30 0.722 0.385 1.5E-10 0.020 None 1.000 2 0 1995 1998
Entrez Id: 7739
Gene Symbol: ZNF185
ZNF185 		O15231 zinc finger protein 185 with LIM domain 31 0.711 0.500 6.3E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 166785
Gene Symbol: MMAA
MMAA 		Q8IVH4 metabolism of cobalamin associated A 33 0.743 0.346 9.4E-13 0.010 None 1.000 1 0 2007 2007
Entrez Id: 9154
Gene Symbol: SLC28A1
SLC28A1 		O00337 solute carrier family 28 member 1 Transporter 33 0.686 0.538 5.7E-20 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		P51570 galactokinase 1 Kinase 34 0.682 0.346 1.0E-05 0.010 None 1.000 1 0 1998 1998
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		Q4G176 acyl-CoA synthetase family member 3 Enzyme 35 0.743 0.308 2.3E-26 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2819
Gene Symbol: GPD1
GPD1 		P21695 glycerol-3-phosphate dehydrogenase 1 Enzyme 38 0.670 0.500 5.6E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2 		O96007 O96033 molybdenum cofactor synthesis 2 39 0.729 0.308 4.6E-04 0.200 None 0 0
Entrez Id: 57017
Gene Symbol: COQ9
COQ9 		O75208 coenzyme Q9 41 0.700 0.423 5.5E-06 0.010 None 1.000 1 0 2020 2020
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		Q2TAA5 ALG11 alpha-1,2-mannosyltransferase 47 0.722 0.346 6.2E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1120
Gene Symbol: CHKB
CHKB 		Q9Y259 choline kinase beta Kinase 48 0.663 0.423 3.8E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1733
Gene Symbol: DIO1
DIO1 		P49895 iodothyronine deiodinase 1 51 0.638 0.769 0.58 0.300 None 1.000 1 0 2007 2007
Entrez Id: 6906
Gene Symbol: SERPINA7
SERPINA7 		P05543 serpin family A member 7 Enzyme modulator 51 0.641 0.615 2.6E-03 0.300 None 1.000 1 0 1990 1990
Entrez Id: 6554
Gene Symbol: SLC10A1
SLC10A1 		Q14973 solute carrier family 10 member 1 Transporter 54 0.626 0.462 4.8E-16 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2710
Gene Symbol: GK
GK 		P32189 glycerol kinase Kinase 55 0.656 0.577 0.99 0.010 None 1.000 1 1 2003 2003
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 2019 2019
Entrez Id: 27232
Gene Symbol: GNMT
GNMT 		Q14749 glycine N-methyltransferase 57 0.626 0.462 2.8E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7390
Gene Symbol: UROS
UROS 		P10746 uroporphyrinogen III synthase Enzyme 58 0.678 0.462 3.2E-02 0.020 None 1.000 2 0 1996 2007
Entrez Id: 162417
Gene Symbol: NAGS
NAGS 		Q8N159 N-acetylglutamate synthase 58 0.716 0.423 4.0E-08 0.010 None 1.000 1 0 2016 2016