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: 5395
Gene Symbol: PMS2
PMS2 		P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 244 0.484 0.808 4.5E-27 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1 		Q9NZ08 endoplasmic reticulum aminopeptidase 1 Enzyme 156 0.556 0.692 2.1E-26 0.100 None 0 0
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		Q9Y2M0 FANCD2 and FANCI associated nuclease 1 93 0.610 0.577 1.7E-25 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: 23230
Gene Symbol: VPS13A
VPS13A 		Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.100 None 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.100 None 0 4
Entrez Id: 84340
Gene Symbol: GFM2
GFM2 		Q969S9 G elongation factor mitochondrial 2 Enzyme 29 0.736 0.269 1.5E-18 0.100 None 0 0
Entrez Id: 60558
Gene Symbol: GUF1
GUF1 		Q8N442 GUF1 homolog, GTPase Enzyme 13 0.805 0.154 5.3E-18 0.100 None 0 0
Entrez Id: 5378
Gene Symbol: PMS1
PMS1 		P54277 PMS1 homolog 1, mismatch repair system component Nucleic acid binding 115 0.569 0.654 1.3E-17 0.100 None 0 0
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12 		Q8WVT3 trafficking protein particle complex 12 Enzyme 28 0.751 0.385 5.4E-16 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 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: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.100 None 0 0
Entrez Id: 2581
Gene Symbol: GALC
GALC 		P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 2
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.110 None 1.000 1 0 2018 2018
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.100 None 0 0