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 0.800 None 0.985 343 45 1977 2020
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: 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: 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: 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: 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: 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: 10598
Gene Symbol: AHSA1
AHSA1 		O95433 activator of HSP90 ATPase activity 1 526 0.396 0.923 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1081
Gene Symbol: CGA
CGA 		P01215 glycoprotein hormones, alpha polypeptide 180 0.508 0.808 0.35 0.010 None 1.000 1 0 1990 1990
Entrez Id: 1398
Gene Symbol: CRK
CRK 		P46108 CRK proto-oncogene, adaptor protein 544 0.394 0.923 0.96 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1401
Gene Symbol: CRP
CRP 		P02741 C-reactive protein 1483 0.299 0.962 3.7E-03 0.010 None 1.000 1 0 2019 2019
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 2018 2018
Entrez Id: 1728
Gene Symbol: NQO1
NQO1 		P15559 NAD(P)H quinone dehydrogenase 1 368 0.434 0.885 1.2E-09 0.010 None 1.000 1 0 2020 2020
Entrez Id: 25859
Gene Symbol: PART1
PART1 		prostate androgen-regulated transcript 1 250 0.483 0.885 0.010 None 1.000 1 0 2017 2017
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		Q9Y4U1 metabolism of cobalamin associated C 76 0.644 0.615 1.1E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2 		Q9Y2S7 DNA polymerase delta interacting protein 2 530 0.396 0.923 0.41 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2644
Gene Symbol: GCHFR
GCHFR 		P30047 GTP cyclohydrolase I feedback regulator 89 0.579 0.808 4.8E-02 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		P14136 glial fibrillary acidic protein 447 0.421 0.885 1.5E-06 0.010 None < 0.001 1 0 1996 1996
Entrez Id: 3043
Gene Symbol: HBB
HBB 		P68871 hemoglobin subunit beta 272 0.494 0.808 1.2E-09 0.010 None 1.000 1 0 1991 1991
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19 		Q695T7 solute carrier family 6 member 19 54 0.695 0.577 1.8E-24 0.010 None 1.000 1 0 2018 2018
Entrez Id: 401250
Gene Symbol: MCCD1
MCCD1 		P59942 mitochondrial coiled-coil domain 1 6 0.890 0.231 1.9E-03 0.010 None 1.000 1 0 2019 2019