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: 7249
Gene Symbol: TSC2
TSC2
P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
Q96EK4 THAP domain containing 11 23 0.769 0.346 0.83 0.100 None 0 1
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8801
Gene Symbol: SUCLG2
SUCLG2
Q96I99 succinate-CoA ligase GDP-forming subunit beta Enzyme 16 0.780 0.308 5.7E-14 0.300 None 1.000 1 0 2006 2006
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
P53597 succinate-CoA ligase GDP/ADP-forming subunit alpha 47 0.666 0.423 4.8E-04 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
Q9P2R7 succinate-CoA ligase ADP-forming subunit beta Enzyme 136 0.566 0.654 2.3E-03 0.150 None 1.000 5 0 2007 2017
Entrez Id: 6697
Gene Symbol: SPR
SPR
P35270 sepiapterin reductase 90 0.631 0.654 4.3E-02 0.010 None < 0.001 1 0 2006 2006
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
P04179 superoxide dismutase 2 Enzyme 668 0.379 0.923 0.15 0.300 None 1.000 1 0 2006 2006
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
O76082 solute carrier family 22 member 5 Transporter 103 0.608 0.731 5.3E-16 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4735
Gene Symbol: SEPTIN2
SEPTIN2
Q15019 septin 2 Enzyme modulator 44 0.653 0.462 0.29 0.300 None 1.000 1 0 2006 2006
Entrez Id: 55752
Gene Symbol: SEPTIN11
SEPTIN11
Q9NVA2 septin 11 Enzyme modulator 23 0.700 0.346 0.96 0.300 None 1.000 1 0 2006 2006
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1
Q06830 peroxiredoxin 1 Enzyme 237 0.485 0.846 7.7E-10 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.010 None 1.000 1 0 2003 2003
Entrez Id: 25859
Gene Symbol: PART1
PART1
prostate androgen-regulated transcript 1 250 0.483 0.885 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.010 None 1.000 1 0 2018 2018
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 2019 2019
Entrez Id: 4598
Gene Symbol: MVK
MVK
Q03426 mevalonate kinase Kinase 139 0.576 0.731 0.17 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4548
Gene Symbol: MTR
MTR
Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 245 0.482 0.808 2.4E-12 0.010 None 1.000 1 0 1997 1997
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 1997 1997
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.500 None 0.961 76 25 1977 2020
Entrez Id: 23531
Gene Symbol: MMD
MMD
Q15546 monocyte to macrophage differentiation associated Receptor 58 0.647 0.577 1.3E-04 0.010 None 1.000 1 0 1999 1999
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
Q9H3L0 metabolism of cobalamin associated D 36 0.751 0.385 2.1E-05 0.120 None 1.000 2 0 2008 2009
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Q9Y4U1 metabolism of cobalamin associated C 76 0.644 0.615 1.1E-13 0.170 None 1.000 7 1 2006 2018
Entrez Id: 326625
Gene Symbol: MMAB
MMAB
Q96EY8 metabolism of cobalamin associated B Enzyme 46 0.695 0.538 4.1E-03 0.150 None 1.000 13 4 2002 2016
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
Q8IVH4 metabolism of cobalamin associated A 33 0.743 0.346 9.4E-13 0.140 None 1.000 10 4 2004 2018