Source: BEFREE ×
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: 4594
Gene Symbol: MMUT
MMUT 		P22033 methylmalonyl-CoA mutase Enzyme 98 0.534 0.731 1.7E-22 0.320 None 1.000 2 0 2009 2018
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		Q9BY32 inosine triphosphatase Enzyme 58 0.604 0.500 1.0E-07 0.310 None 1.000 1 0 2002 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 138 0.516 0.769 6.4E-23 0.080 None 1.000 8 0 1995 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		P05186 alkaline phosphatase, biomineralization associated Enzyme 89 0.546 0.769 3.6E-04 0.080 None 1.000 8 0 2000 2019
Entrez Id: 875
Gene Symbol: CBS
CBS 		P0DN79 P35520 cystathionine beta-synthase Enzyme 212 0.465 0.885 3.1E-05 0.060 None 1.000 6 2 2001 2019
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: 412
Gene Symbol: STS
STS 		P08842 steroid sulfatase Enzyme 342 0.431 0.846 0.81 0.040 None 1.000 4 0 1989 2002
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		P30084 enoyl-CoA hydratase, short chain 1 Enzyme 37 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 38 0.638 0.462 2.1E-12 0.030 None 1.000 3 0 1993 2016
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		Q92947 glutaryl-CoA dehydrogenase 18 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 114 0.537 0.769 1.00 0.030 None 1.000 3 0 1997 2007
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 92 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 46 0.612 0.654 2.1E-06 0.030 None 1.000 3 0 1998 2017
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		Q03154 aminoacylase 1 30 0.653 0.577 6.9E-09 0.030 None 1.000 3 0 2005 2014
Entrez Id: 5009
Gene Symbol: OTC
OTC 		P00480 ornithine carbamoyltransferase 96 0.565 0.846 0.87 0.030 None 1.000 3 0 1985 2009
Entrez Id: 3081
Gene Symbol: HGD
HGD 		Q93099 homogentisate 1,2-dioxygenase Enzyme 35 0.631 0.577 3.0E-08 0.030 None 1.000 3 0 2008 2017
Entrez Id: 7390
Gene Symbol: UROS
UROS 		P10746 uroporphyrinogen III synthase Enzyme 16 0.678 0.462 3.2E-02 0.020 None 1.000 2 0 1996 2007
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 157 0.500 0.808 0.94 0.020 None 1.000 2 0 2008 2010
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		P35475 alpha-L-iduronidase Enzyme 146 0.499 0.846 3.8E-13 0.020 None 1.000 2 0 2019 2019
Entrez Id: 29958
Gene Symbol: DMGDH
DMGDH 		Q9UI17 dimethylglycine dehydrogenase Enzyme 2 0.890 0.154 2.1E-24 0.020 None 1.000 2 0 1999 2001
Entrez Id: 6232
Gene Symbol: RPS27
RPS27 		P42677 ribosomal protein S27 Nucleic acid binding 83 0.578 0.769 0.76 0.020 None 1.000 2 0 2019 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		P01009 serpin family A member 1 Enzyme modulator 411 0.410 0.923 6.8E-08 0.020 None 1.000 2 0 1990 2000
Entrez Id: 3145
Gene Symbol: HMBS
HMBS 		P08397 hydroxymethylbilane synthase Enzyme 89 0.559 0.731 0.95 0.020 None 1.000 2 0 1994 1995
Entrez Id: 2582
Gene Symbol: GALE
GALE 		Q14376 UDP-galactose-4-epimerase 12 0.722 0.385 1.5E-10 0.020 None 1.000 2 0 1995 1998
Entrez Id: 445
Gene Symbol: ASS1
ASS1 		P00966 argininosuccinate synthase 1 Enzyme 130 0.523 0.731 1.5E-09 0.020 None 1.000 2 0 1983 2001