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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 268 0.462 0.846 0.010 None 1.000 1 0 2018 2018
Entrez Id: 147719
Gene Symbol: LYPD4
LYPD4
Q6UWN0 LY6/PLAUR domain containing 4 65 0.601 0.692 9.0E-06 0.010 None 1.000 1 0 1983 1983
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
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: 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: 2184
Gene Symbol: FAH
FAH
P16930 fumarylacetoacetate hydrolase 78 0.612 0.538 4.0E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
Q96EK5 kinesin family binding protein 83 0.615 0.731 7.6E-02 0.010 None 1.000 1 0 2008 2008
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: 27429
Gene Symbol: HTRA2
HTRA2
O43464 HtrA serine peptidase 2 151 0.542 0.692 3.6E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 242 0.494 0.923 0.010 None 1.000 1 0 2014 2014
Entrez Id: 285362
Gene Symbol: SUMF1
SUMF1
Q8NBK3 sulfatase modifying factor 1 80 0.641 0.538 2.3E-08 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
P22897 mannose receptor C-type 1 431 0.413 0.846 0.94 0.010 None 1.000 1 0 1983 1983
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: 443
Gene Symbol: ASPA
ASPA
P45381 aspartoacylase 123 0.564 0.731 4.1E-04 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2017 2017