Source: CURATED ×
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: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 72 0.374 0.885 5.6E-47 0.420 None 0.500 0 0 2012 2015
Entrez Id: 1565
Gene Symbol: CYP2D6
CYP2D6 		P10635 cytochrome P450 family 2 subfamily D member 6 93 0.437 0.885 1.1E-25 0.300 None 1.000 1 0 2006 2006
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 36 0.507 0.808 5.2E-22 0.300 limited 1.000 1 0 2008 2008
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		P12111 collagen type VI alpha 3 chain Receptor 13 0.563 0.769 1.8E-20 0.340 None 1.000 0 0 2016 2018
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 12 0.538 0.731 5.3E-19 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 3140
Gene Symbol: MR1
MR1 		Q95460 major histocompatibility complex, class I-related 1 0.716 0.346 4.9E-18 0.300 limited 0 0
Entrez Id: 63982
Gene Symbol: ANO3
ANO3 		Q9BYT9 anoctamin 3 8 0.716 0.385 1.2E-17 0.360 None 1.000 0 0 2012 2019
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 15 0.633 0.462 2.0E-16 0.400 limited 0 0
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		P52746 zinc finger protein 142 Transcription factor 5 0.861 0.192 4.8E-16 0.410 strong 1.000 1 3 2019 2019
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 12 0.547 0.769 6.5E-13 0.400 limited 1.000 1 0 2010 2010
Entrez Id: 57462
Gene Symbol: MYORG
MYORG 		Q6NSJ0 myogenesis regulating glycosidase (putative) Enzyme 4 0.805 0.269 1.1E-11 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		P15289 arylsulfatase A Enzyme 9 0.448 0.923 1.1E-11 0.400 None 0 0
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		P39210 mitochondrial inner membrane protein MPV17 Receptor 17 0.595 0.577 9.7E-11 0.400 limited 0 0
Entrez Id: 65018
Gene Symbol: PINK1
PINK1 		Q9BXM7 PTEN induced kinase 1 Kinase 18 0.516 0.769 1.9E-10 0.420 strong 1.000 1 0 2004 2015
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 4 0.590 0.500 4.0E-10 0.410 None 1.000 1 0 2003 2003
Entrez Id: 1356
Gene Symbol: CP
CP 		P00450 ceruloplasmin Enzyme 75 0.466 0.846 4.2E-10 0.310 None 1.000 1 0 1987 2006
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		Q5TBB1 ribonuclease H2 subunit B 8 0.595 0.615 3.3E-09 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		Q9NZC2 triggering receptor expressed on myeloid cells 2 19 0.519 0.769 3.3E-09 0.300 None 1.000 2 0 2005 2016
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 17 0.588 0.462 5.3E-09 0.400 strong 0 0
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		Q9NQ11 ATPase cation transporting 13A2 26 0.566 0.577 9.0E-09 0.440 strong 0.833 2 0 2010 2019
Entrez Id: 124454
Gene Symbol: EARS2
EARS2 		Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 3 0.666 0.538 1.1E-08 0.400 limited 0 0
Entrez Id: 1737
Gene Symbol: DLAT
DLAT 		P10515 dihydrolipoamide S-acetyltransferase 11 0.576 0.731 2.3E-08 0.300 None 1.000 1 0 2009 2009
Entrez Id: 1644
Gene Symbol: DDC
DDC 		P20711 dopa decarboxylase 30 0.535 0.769 3.8E-08 0.300 None 1.000 2 0 2009 2014
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17 		Q5H9S7 DDB1 and CUL4 associated factor 17 2 0.653 0.577 3.7E-07 0.410 None 0.500 0 1 2010 2016
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7 		Q9Y3I1 F-box protein 7 3 0.650 0.769 5.8E-07 0.410 strong 1.000 1 0 2009 2010