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: 4434
Gene Symbol: MSD
MSD 		microcephaly with spastic diplegia (Paine syndrome) 35 0.674 0.654 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57597
Gene Symbol: BAHCC1
BAHCC1 		Q9P281 BAH domain and coiled-coil containing 1 6 0.100 None 1.000 1 1 2017 2017
Entrez Id: 690
Gene Symbol: BTF3P11
BTF3P11 		basic transcription factor 3 pseudogene 11 154 0.519 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 1.000 11 2 2001 2017
Entrez Id: 202333
Gene Symbol: CMYA5
CMYA5 		Q8N3K9 cardiomyopathy associated 5 22 0.711 0.423 1.3E-54 0.010 None 1.000 1 0 2010 2010
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.030 None 1.000 3 0 2002 2015
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		P14780 matrix metallopeptidase 9 Enzyme 1337 0.305 0.923 1.9E-17 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.010 None 1.000 1 0 2017 2017
Entrez Id: 59342
Gene Symbol: SCPEP1
SCPEP1 		Q9HB40 serine carboxypeptidase 1 Enzyme 36 0.674 0.615 1.2E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		Q01955 collagen type IV alpha 3 chain 119 0.552 0.692 1.1E-12 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3855
Gene Symbol: KRT7
KRT7 		P08729 keratin 7 287 0.463 0.808 3.1E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 255239
Gene Symbol: ANKK1
ANKK1 		Q8NFD2 ankyrin repeat and kinase domain containing 1 Kinase 71 0.604 0.462 7.4E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2 		Q9NNW7 thioredoxin reductase 2 Enzyme 134 0.548 0.731 3.5E-11 0.010 None 1.000 1 0 2012 2012
Entrez Id: 847
Gene Symbol: CAT
CAT 		P04040 catalase Enzyme 794 0.359 0.962 1.6E-10 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None < 0.001 1 1 2015 2015
Entrez Id: 1506
Gene Symbol: CTRL
CTRL 		P40313 chymotrypsin like Enzyme 76 0.599 0.846 1.1E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51540
Gene Symbol: SCLY
SCLY 		Q96I15 selenocysteine lyase Enzyme 161 0.530 0.731 2.3E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 799
Gene Symbol: CALCR
CALCR 		P30988 calcitonin receptor G-protein coupled receptor 282 0.464 0.846 3.1E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1815
Gene Symbol: DRD4
DRD4 		P21917 dopamine receptor D4 G-protein coupled receptor 189 0.517 0.577 9.3E-09 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2100
Gene Symbol: ESR2
ESR2 		Q92731 estrogen receptor 2 Nuclear receptor 528 0.400 0.923 4.5E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 247 0.498 0.808 5.0E-08 0.020 None 1.000 2 1 2016 2017
Entrez Id: 1312
Gene Symbol: COMT
COMT 		P21964 catechol-O-methyltransferase Enzyme 622 0.400 0.923 1.1E-06 0.400 None 1.000 15 7 2007 2020
Entrez Id: 27306
Gene Symbol: HPGDS
HPGDS 		O60760 hematopoietic prostaglandin D synthase 570 0.388 0.923 1.8E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2069
Gene Symbol: EREG
EREG 		O14944 epiregulin Signaling 121 0.554 0.692 1.2E-05 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.010 None 1.000 1 0 2015 2015