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: 1376
Gene Symbol: CPT2
CPT2
P23786 carnitine palmitoyltransferase 2 transferase 150 0.596 0.483 5.1E-10 0.100 1 1 2015 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 membrane traffic protein; transporter 120 0.596 0.483 1.00 0.100 1 1 2015 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 336 0.472 0.724 1.00 0.100 1 1 2015 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 kinase; transferase 170 0.551 0.448 1.00 0.100 1 1 2015 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 127 0.557 0.483 1.00 0.100 1 1 2015 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 165 0.559 0.655 1.9E-23 0.100 1 1 2015 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 transporter 232 0.508 0.690 2.7E-23 0.100 1 1 2015 2015
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 oxidoreductase 112 0.609 0.448 1.2E-14 0.100 1 1 2015 2015
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
P35711 SRY-box 5 97 0.616 0.621 1.00 0.100 1 2 2015 2015
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 extracellular matrix protein 82 0.633 0.586 2.9E-03 0.100 0 0
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
Q9H334 forkhead box P1 175 0.528 0.690 1.00 0.100 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
Q9H3S4 thiamin pyrophosphokinase 1 16 0.928 8.8E-02 0.100 0 0
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ
O14949 ubiquinol-cytochrome c reductase complex III subunit VII 28 0.762 0.276 5.1E-02 0.100 0 0
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
Q5TGY3 AT-hook DNA binding motif containing 1 44 0.727 0.414 1.00 0.100 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
Q9H3L0 methylmalonic aciduria and homocystinuria, cblD type 43 0.707 0.345 2.2E-05 0.100 0 0
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
O43464 HtrA serine peptidase 2 chaperone; hydrolase; protease 90 0.582 0.448 3.7E-03 0.100 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
O60826 coiled-coil domain containing 22 77 0.676 0.448 1.00 0.100 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
Q9UHJ9 post-GPI attachment to proteins 2 enzyme modulator 12 0.834 0.207 0.94 0.100 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
Q96C86 decapping enzyme, scavenger hydrolase 29 0.762 0.241 1.9E-07 0.100 0 0
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
Q9H845 acyl-CoA dehydrogenase family member 9 oxidoreductase; transferase 54 0.727 0.345 2.6E-08 0.100 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
Q9BYW2 SET domain containing 2 297 0.465 0.724 1.00 0.100 0 0
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
Q9P032 NADH:ubiquinone oxidoreductase complex assembly factor 4 71 0.656 0.448 0.52 0.100 0 0
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
Q9NRA2 solute carrier family 17 member 5 transporter 158 0.547 0.759 8.4E-10 0.100 0 0
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
Q99757 thioredoxin 2 oxidoreductase 49 0.676 0.379 2.7E-05 0.100 0 0
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
Q9Y2Z2 mitochondrial tRNA translation optimization 1 60 0.636 0.345 6.9E-06 0.100 0 0