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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
Entrez Id: 1636
Gene Symbol: ACE
ACE 		P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 0 0
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1 		P07942 laminin subunit beta 1 Enzyme modulator 75 0.615 0.654 5.1E-22 0.100 None 0 0
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 2007 2007
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 4314
Gene Symbol: MMP3
MMP3 		P08254 matrix metallopeptidase 3 Enzyme 473 0.408 0.885 5.7E-15 0.010 None 1.000 1 0 2007 2007
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 1
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.100 None 0 2
Entrez Id: 165918
Gene Symbol: RNF168
RNF168 		Q8IYW5 ring finger protein 168 64 0.653 0.731 2.1E-13 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.100 None 0 0
Entrez Id: 1807
Gene Symbol: DPYS
DPYS 		Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.100 None 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2004 2004
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: 54209
Gene Symbol: TREM2
TREM2 		Q9NZC2 triggering receptor expressed on myeloid cells 2 239 0.519 0.769 3.3E-09 0.100 None 0 0
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		Q15046 lysyl-tRNA synthetase 1 Enzyme 62 0.636 0.577 4.2E-09 0.100 None 0 2
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 1.000 1 1 2010 2010
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.100 None 0 0
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 101 0.595 0.808 1.5E-07 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-07 0.100 None 0 0