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: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.500 None 0.985 133 30 1975 2019
Entrez Id: 5860
Gene Symbol: QDPR
QDPR 		P09417 quinoid dihydropteridine reductase Enzyme 45 0.691 0.500 1.5E-04 0.490 None 1.000 10 0 1979 2015
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.200 None 0.909 11 1 1998 2018
Entrez Id: 5805
Gene Symbol: PTS
PTS 		Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.160 None 1.000 6 6 1992 2019
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1 		P61457 pterin-4 alpha-carbinolamine dehydratase 1 Enzyme 68 0.623 0.769 3.3E-04 0.130 None 1.000 3 0 1998 2014
Entrez Id: 56521
Gene Symbol: DNAJC12
DNAJC12 		Q9UKB3 DnaJ heat shock protein family (Hsp40) member C12 35 0.705 0.423 2.1E-06 0.060 None 0.833 6 1 2017 2019
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		Q9GZT8 NGG1 interacting factor 3 like 1 37 0.674 0.462 9.7E-09 0.030 None 1.000 3 0 1999 2018
Entrez Id: 6697
Gene Symbol: SPR
SPR 		P35270 sepiapterin reductase 90 0.631 0.654 4.3E-02 0.030 None 0.667 3 0 2001 2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.030 None 1.000 3 0 1999 2003
Entrez Id: 1911
Gene Symbol: PHC1
PHC1 		P78364 polyhomeotic homolog 1 Nucleic acid binding 57 0.644 0.692 1.00 0.020 None 1.000 2 0 2015 2017
Entrez Id: 112399
Gene Symbol: EGLN3
EGLN3 		Q9H6Z9 egl-9 family hypoxia inducible factor 3 97 0.575 0.654 9.5E-03 0.020 None 1.000 2 0 2015 2017
Entrez Id: 112398
Gene Symbol: EGLN2
EGLN2 		Q96KS0 egl-9 family hypoxia inducible factor 2 68 0.604 0.731 0.72 0.020 None 1.000 2 0 2015 2017
Entrez Id: 100529264
Gene Symbol: RAB4B-EGLN2
RAB4B-EGLN2 		RAB4B-EGLN2 readthrough (NMD candidate) 51 0.641 0.654 0.020 None 1.000 2 0 2015 2017
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		P20823 HNF1 homeobox A Nucleic acid binding 292 0.478 0.846 0.96 0.010 None 1.000 1 0 2000 2000
Entrez Id: 79801
Gene Symbol: SHCBP1
SHCBP1 		Q8NEM2 SHC binding and spindle associated 1 72 0.606 0.654 9.4E-08 0.010 None 1.000 1 0 1999 1999
Entrez Id: 55669
Gene Symbol: MFN1
MFN1 		Q8IWA4 mitofusin 1 Enzyme 45 0.644 0.577 2.5E-10 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		Q9GZT9 egl-9 family hypoxia inducible factor 1 130 0.540 0.731 0.97 0.010 None 1.000 1 0 1997 1997
Entrez Id: 5066
Gene Symbol: PAM
PAM 		P19021 peptidylglycine alpha-amidating monooxygenase Enzyme 155 0.542 0.692 6.9E-06 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4967
Gene Symbol: OGDH
OGDH 		Q02218 oxoglutarate dehydrogenase 55 0.653 0.538 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 121278
Gene Symbol: TPH2
TPH2 		Q8IWU9 tryptophan hydroxylase 2 137 0.546 0.654 2.5E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 183
Gene Symbol: AGT
AGT 		P01019 angiotensinogen Enzyme modulator 765 0.367 0.923 5.0E-08 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1912
Gene Symbol: PHC2
PHC2 		Q8IXK0 polyhomeotic homolog 2 Nucleic acid binding 9 0.890 0.192 0.55 0.010 None 1.000 1 0 1997 1997
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1 		Q5T2R2 decaprenyl diphosphate synthase subunit 1 57 0.628 0.615 3.2E-08 0.010 None 1.000 1 0 2005 2005
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 0.010 None 1.000 1 0 1999 1999