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: 3155
Gene Symbol: HMGCL
HMGCL
P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 75 0.691 0.462 2.6E-06 0.200 None 1.000 1 0 1968 1968
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
P53634 cathepsin C Enzyme 139 0.541 0.731 1.1E-07 0.200 None 1.000 1 0 1978 1978
Entrez Id: 7371
Gene Symbol: UCK2
UCK2
Q9BZX2 uridine-cytidine kinase 2 Kinase 42 0.663 0.462 0.72 0.200 None 1.000 1 0 1979 1979
Entrez Id: 3033
Gene Symbol: HADH
HADH
Q16836 hydroxyacyl-CoA dehydrogenase 72 0.650 0.538 6.6E-05 0.200 None 1.000 1 0 1982 1982
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
P08397 hydroxymethylbilane synthase Enzyme 140 0.559 0.731 0.95 0.200 None 1.000 1 0 1983 1983
Entrez Id: 211
Gene Symbol: ALAS1
ALAS1
P13196 5'-aminolevulinate synthase 1 Enzyme 27 0.705 0.462 0.11 0.200 None 1.000 1 0 1983 1983
Entrez Id: 3795
Gene Symbol: KHK
KHK
P50053 ketohexokinase Kinase 28 0.700 0.346 2.1E-09 0.200 None 1.000 1 0 1984 1984
Entrez Id: 7372
Gene Symbol: UMPS
UMPS
P11172 uridine monophosphate synthetase 102 0.584 0.615 1.1E-04 0.200 None 1.000 2 0 1985 1992
Entrez Id: 2688
Gene Symbol: GH1
GH1
P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.200 None 1.000 2 0 1985 2009
Entrez Id: 2638
Gene Symbol: GC
GC
P02774 GC vitamin D binding protein Transporter 219 0.489 0.885 2.7E-11 0.200 None 1.000 1 0 1985 1985
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
P05062 aldolase, fructose-bisphosphate B 80 0.623 0.538 7.9E-07 0.200 None 1.000 1 0 1985 1985
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
P55809 3-oxoacid CoA-transferase 1 Enzyme 33 0.686 0.423 4.7E-03 0.200 None 1.000 1 0 1986 1986
Entrez Id: 622
Gene Symbol: BDH1
BDH1
Q02338 3-hydroxybutyrate dehydrogenase 1 Enzyme 23 0.729 0.423 7.6E-08 0.200 None 1.000 1 0 1986 1986
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 229 0.502 0.769 1.9E-07 0.200 None 1.000 1 0 1987 1987
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
P31327 carbamoyl-phosphate synthase 1 Enzyme 133 0.590 0.615 1.1E-09 0.200 None 1.000 1 0 1987 1987
Entrez Id: 353
Gene Symbol: APRT
APRT
P07741 adenine phosphoribosyltransferase 384 0.423 0.846 5.5E-13 0.200 None 1.000 1 0 1988 1988
Entrez Id: 5471
Gene Symbol: PPAT
PPAT
Q06203 phosphoribosyl pyrophosphate amidotransferase Enzyme 21 0.705 0.385 0.99 0.200 None 1.000 1 0 1988 1988
Entrez Id: 5198
Gene Symbol: PFAS
PFAS
O15067 phosphoribosylformylglycinamidine synthase 18 0.780 0.308 9.9E-18 0.200 None 1.000 1 0 1988 1988
Entrez Id: 8833
Gene Symbol: GMPS
GMPS
P49915 guanine monophosphate synthase Enzyme 13 0.769 0.269 1.00 0.200 None 1.000 1 0 1988 1988
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.200 None 1.000 1 0 1988 1988
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.200 None 1.000 1 0 1988 1988
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
Q8N142 adenylosuccinate synthase 1 Enzyme 49 0.722 0.385 2.8E-07 0.200 None 1.000 1 0 1988 1988
Entrez Id: 2550
Gene Symbol: GABBR1
GABBR1
Q9UBS5 gamma-aminobutyric acid type B receptor subunit 1 G-protein coupled receptor 82 0.587 0.769 1.00 0.200 None 1.000 1 0 1988 1988
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
P09417 quinoid dihydropteridine reductase Enzyme 45 0.691 0.500 1.5E-04 0.200 None 1.000 1 0 1989 1989
Entrez Id: 3643
Gene Symbol: INSR
INSR
P06213 insulin receptor Kinase 452 0.432 0.846 3.6E-05 0.500 None 1.000 7 0 1990 2012