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: 2639
Gene Symbol: GCDH
GCDH 		Q92947 glutaryl-CoA dehydrogenase 72 0.691 0.385 4.9E-03 0.030 None 1.000 3 0 2000 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC 		P00480 ornithine carbamoyltransferase 135 0.565 0.846 0.87 0.030 None 1.000 3 0 1985 2009
Entrez Id: 2592
Gene Symbol: GALT
GALT 		P07902 galactose-1-phosphate uridylyltransferase Enzyme 87 0.612 0.654 2.1E-06 0.030 None 1.000 3 0 1998 2017
Entrez Id: 3081
Gene Symbol: HGD
HGD 		Q93099 homogentisate 1,2-dioxygenase Enzyme 70 0.631 0.577 3.0E-08 0.030 None 1.000 3 0 2008 2017
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		P30084 enoyl-CoA hydratase, short chain 1 Enzyme 93 0.601 0.654 8.8E-04 0.030 None 1.000 3 0 2014 2018
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		P11310 acyl-CoA dehydrogenase medium chain Enzyme 94 0.638 0.462 2.1E-12 0.030 None 1.000 3 0 1993 2016
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.030 None 1.000 3 0 1992 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.020 None 1.000 2 0 2008 2010
Entrez Id: 3145
Gene Symbol: HMBS
HMBS 		P08397 hydroxymethylbilane synthase Enzyme 140 0.559 0.731 0.95 0.020 None 1.000 2 0 1994 1995
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: 6232
Gene Symbol: RPS27
RPS27 		P42677 ribosomal protein S27 Nucleic acid binding 104 0.578 0.769 0.76 0.020 None 1.000 2 0 2019 2019
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: 38
Gene Symbol: ACAT1
ACAT1 		P24752 acetyl-CoA acetyltransferase 1 Enzyme 176 0.538 0.692 9.9E-08 0.020 None 1.000 2 0 2004 2010
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		P01009 serpin family A member 1 Enzyme modulator 482 0.410 0.923 6.8E-08 0.020 None 1.000 2 0 1990 2000
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: 23417
Gene Symbol: MLYCD
MLYCD 		O95822 malonyl-CoA decarboxylase 79 0.617 0.769 6.5E-04 0.020 None 1.000 2 0 2006 2010
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.020 None 1.000 2 0 2011 2013
Entrez Id: 7272
Gene Symbol: TTK
TTK 		P33981 TTK protein kinase Kinase 112 0.555 0.731 1.3E-03 0.020 None 1.000 2 0 2019 2019
Entrez Id: 219972
Gene Symbol: MPEG1
MPEG1 		Q2M385 macrophage expressed 1 98 0.575 0.731 3.6E-16 0.020 None 1.000 2 0 2019 2019
Entrez Id: 445
Gene Symbol: ASS1
ASS1 		P00966 argininosuccinate synthase 1 Enzyme 163 0.523 0.731 1.5E-09 0.020 None 1.000 2 0 1983 2001
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: 760
Gene Symbol: CA2
CA2 		P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.020 None 1.000 2 0 1985 1986
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		P11413 glucose-6-phosphate dehydrogenase Enzyme 410 0.424 0.846 0.97 0.020 None 1.000 2 0 2007 2018
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		P08559 pyruvate dehydrogenase E1 subunit alpha 1 129 0.581 0.538 0.99 0.010 None 1.000 1 0 2014 2014
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