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: 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: 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
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: 84693
Gene Symbol: MCEE
MCEE 		Q96PE7 methylmalonyl-CoA epimerase Enzyme 12 0.792 0.385 2.7E-02 0.160 None 1.000 6 0 2006 2019
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: 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: 51293
Gene Symbol: CD320
CD320 		Q9NPF0 CD320 molecule 20 0.729 0.462 3.5E-03 0.010 None 1.000 1 0 2010 2010
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: 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: 54205
Gene Symbol: CYCS
CYCS 		P99999 cytochrome c, somatic 67 0.599 0.769 0.64 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: 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: 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: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.010 None 1.000 1 0 2018 2018
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: 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: 83892
Gene Symbol: KCTD10
KCTD10 		Q9H3F6 potassium channel tetramerization domain containing 10 15 0.805 0.231 0.86 0.010 None 1.000 1 0 2016 2016
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: 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: 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: 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: 2820
Gene Symbol: GPD2
GPD2 		P43304 glycerol-3-phosphate dehydrogenase 2 Enzyme 38 0.678 0.538 8.1E-11 0.300 None 1.000 1 0 2006 2006
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		P09471 G protein subunit alpha o1 Enzyme modulator 188 0.523 0.808 0.99 0.010 None 1.000 1 0 2019 2019