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: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 6342
Gene Symbol: SCP2
SCP2 		P22307 sterol carrier protein 2 50 0.644 0.500 8.7E-07 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1 		Q9H173 SIL1 nucleotide exchange factor 115 0.584 0.731 1.2E-02 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		O00238 bone morphogenetic protein receptor type 1B Kinase 145 0.573 0.615 1.00 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.100 None 0 0
Entrez Id: 27235
Gene Symbol: COQ2
COQ2 		Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 139 0.590 0.731 1.3E-03 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		P48436 SRY-box transcription factor 9 466 0.419 0.846 1.00 0.100 None 0 0
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		P43694 GATA binding protein 4 336 0.458 0.846 0.49 0.100 None 0 0
Entrez Id: 2592
Gene Symbol: GALT
GALT 		P07902 galactose-1-phosphate uridylyltransferase Enzyme 87 0.612 0.654 2.1E-06 0.100 None 0 1
Entrez Id: 3694
Gene Symbol: ITGB6
ITGB6 		P18564 integrin subunit beta 6 Receptor 92 0.597 0.692 1.6E-22 0.100 None 0 0
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C 		O15160 RNA polymerase I and III subunit C Enzyme 86 0.595 0.615 6.3E-10 0.100 None 0 0
Entrez Id: 58524
Gene Symbol: DMRT3
DMRT3 		Q9NQL9 doublesex and mab-3 related transcription factor 3 50 0.653 0.500 6.2E-06 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 54453
Gene Symbol: RIN2
RIN2 		Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 86 0.623 0.692 8.1E-04 0.100 None 0 0
Entrez Id: 54809
Gene Symbol: SAMD9
SAMD9 		Q5K651 sterile alpha motif domain containing 9 90 0.606 0.808 1.1E-33 0.100 None 0 0
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		P49959 MRE11 homolog, double strand break repair nuclease 171 0.527 0.808 1.3E-12 0.100 None 0 0
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1 		Q13233 mitogen-activated protein kinase kinase kinase 1 Kinase 136 0.538 0.731 1.00 0.100 None 0 0
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 6845
Gene Symbol: VAMP7
VAMP7 		P51809 vesicle associated membrane protein 7 Transporter 69 0.612 0.577 1.4E-02 0.100 None 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1 		P19544 WT1 transcription factor Nucleic acid binding 446 0.422 0.808 1.00 0.100 None 0 0
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		Q9BQP7 mitochondrial genome maintenance exonuclease 1 52 0.695 0.423 1.8E-03 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0
Entrez Id: 9210
Gene Symbol: BMP15
BMP15 		O95972 bone morphogenetic protein 15 Signaling 48 0.659 0.385 1.8E-04 0.100 None 0 0