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 0.800 None 0.985 343 45 1977 2020
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
P09417 quinoid dihydropteridine reductase Enzyme 45 0.691 0.500 1.5E-04 0.350 None 1.000 6 0 1975 2015
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
P11413 glucose-6-phosphate dehydrogenase Enzyme 410 0.424 0.846 0.97 0.210 None 1.000 2 0 2014 2016
Entrez Id: 847
Gene Symbol: CAT
CAT
P04040 catalase Enzyme 794 0.359 0.962 1.6E-10 0.210 None 1.000 2 0 2013 2018
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
P20823 HNF1 homeobox A Nucleic acid binding 292 0.478 0.846 0.96 0.200 None 1.000 2 0 1996 1998
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.200 None 1.000 1 0 1993 1993
Entrez Id: 26103
Gene Symbol: LRIT1
LRIT1
Q9P2V4 leucine rich repeat, Ig-like and transmembrane domains 1 53 0.641 0.615 4.6E-15 0.030 None 1.000 3 0 2017 2018
Entrez Id: 5805
Gene Symbol: PTS
PTS
Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.030 None 1.000 3 0 1992 2014
Entrez Id: 79801
Gene Symbol: SHCBP1
SHCBP1
Q8NEM2 SHC binding and spindle associated 1 72 0.606 0.654 9.4E-08 0.030 None 1.000 3 0 2017 2018
Entrez Id: 5066
Gene Symbol: PAM
PAM
P19021 peptidylglycine alpha-amidating monooxygenase Enzyme 155 0.542 0.692 6.9E-06 0.030 None 1.000 3 0 2017 2018
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.020 None 1.000 2 0 2002 2014
Entrez Id: 6697
Gene Symbol: SPR
SPR
P35270 sepiapterin reductase 90 0.631 0.654 4.3E-02 0.020 None < 0.001 2 0 2001 2001
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.020 None 1.000 2 0 1999 2005
Entrez Id: 93166
Gene Symbol: PRDM6
PRDM6
Q9NQX0 PR/SET domain 6 48 0.638 0.692 0.61 0.020 None 1.000 2 0 2018 2018
Entrez Id: 7054
Gene Symbol: TH
TH
P07101 tyrosine hydroxylase 321 0.462 0.885 1.7E-06 0.020 None 1.000 2 0 2007 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.020 None 1.000 2 0 2010 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.020 None 1.000 2 0 2003 2020
Entrez Id: 27040
Gene Symbol: LAT
LAT
O43561 linker for activation of T cells 124 0.548 0.731 9.2E-03 0.020 None 1.000 2 0 2005 2006
Entrez Id: 4155
Gene Symbol: MBP
MBP
P02686 myelin basic protein 184 0.510 0.885 0.28 0.020 None 1.000 2 0 2005 2018
Entrez Id: 8140
Gene Symbol: SLC7A5
SLC7A5
Q01650 solute carrier family 7 member 5 Transporter 173 0.513 0.808 0.24 0.020 None 1.000 2 0 2005 2006
Entrez Id: 57162
Gene Symbol: PELI1
PELI1
Q96FA3 pellino E3 ubiquitin protein ligase 1 74 0.603 0.731 0.39 0.020 None 1.000 2 0 2018 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
P01270 parathyroid hormone 528 0.397 0.846 1.2E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 55238
Gene Symbol: SLC38A7
SLC38A7
Q9NVC3 solute carrier family 38 member 7 Transporter 17 0.760 0.346 2.9E-05 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
P61457 pterin-4 alpha-carbinolamine dehydratase 1 Enzyme 68 0.623 0.769 3.3E-04 0.010 None 1.000 1 0 2014 2014