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: 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: 249
Gene Symbol: ALPL
ALPL 		P05186 alkaline phosphatase, biomineralization associated Enzyme 190 0.546 0.769 3.6E-04 0.080 None 1.000 8 0 2000 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.080 None 1.000 8 0 1995 2019
Entrez Id: 875
Gene Symbol: CBS
CBS 		P0DN79 P35520 cystathionine beta-synthase Enzyme 295 0.465 0.885 3.1E-05 0.060 None 1.000 6 2 2001 2019
Entrez Id: 412
Gene Symbol: STS
STS 		P08842 steroid sulfatase Enzyme 382 0.431 0.846 0.81 0.040 None 1.000 4 0 1989 2002
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		P0DN79 P35520 cystathionine beta-synthase like 129 0.540 0.808 0.040 None 1.000 4 0 2001 2019
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		Q03154 aminoacylase 1 62 0.653 0.577 6.9E-09 0.030 None 1.000 3 0 2005 2014
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: 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: 2717
Gene Symbol: GLA
GLA 		P06280 galactosidase alpha 190 0.537 0.769 1.00 0.030 None 1.000 3 0 1997 2007
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: 3704
Gene Symbol: ITPA
ITPA 		Q9BY32 inosine triphosphatase Enzyme 77 0.604 0.500 1.0E-07 0.310 None 1.000 3 0 2002 2019
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: 4594
Gene Symbol: MMUT
MMUT 		P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.320 None 1.000 3 0 2009 2018
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: 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: 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: 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: 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: 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: 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: 7167
Gene Symbol: TPI1
TPI1 		P60174 triosephosphate isomerase 1 Enzyme 184 0.517 0.846 3.0E-02 0.300 None 1.000 2 0 1986 1993
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: 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: 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