Source: CLINVAR ×
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: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.120 None 1.000 7 3 2005 2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 38 0.575 0.615 3.4E-04 0.100 None 1.000 5 3 2014 2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 12 0.517 0.731 2.6E-10 0.100 None 1.000 4 1 2010 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.110 None 1.000 4 9 2004 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 1.000 4 6 2006 2009
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 7 0.504 0.769 1.00 0.140 None 1.000 3 1 1999 2012
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.100 None 1.000 3 1 2006 2011
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 6 0.619 0.615 0.98 0.110 None 1.000 3 1 2007 2012
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1 		Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 12 0.650 0.462 1.00 0.130 None 1.000 2 2 2015 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.120 None 1.000 2 4 2012 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.110 None 1.000 2 1 2007 2011
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		Q9Y2D4 exocyst complex component 6B Transporter 19 0.682 0.577 0.12 0.120 None 1.000 2 1 2013 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.120 None 1.000 2 3 2011 2014
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.140 None 1.000 1 10 2002 2016
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		O60216 RAD21 cohesin complex component 17 0.528 0.846 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		Q9BZV2 solute carrier family 19 member 3 Transporter 4 0.610 0.692 0.10 0.100 None 1.000 1 2 2016 2016
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A 		Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 16 0.612 0.538 1.00 0.100 None 1.000 1 8 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 28 0.626 0.538 0.74 0.100 None 1.000 1 3 2017 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 29 0.532 0.692 1.00 0.150 None 1.000 1 4 2010 2019
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L 		Q9Y4W2 LAS1 like ribosome biogenesis factor 1 0.682 0.654 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		Q8N653 leucine zipper like transcription regulator 1 38 0.547 0.808 1.0E-92 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		Q9UKA2 F-box and leucine rich repeat protein 4 12 0.695 0.423 1.1E-08 0.110 None 1.000 1 2 2016 2017
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		P40926 malate dehydrogenase 2 Enzyme 7 0.595 0.731 6.7E-03 0.110 None 1.000 1 3 2017 2019
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		P46952 3-hydroxyanthranilate 3,4-dioxygenase 28 0.644 0.538 1.1E-08 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		P30084 enoyl-CoA hydratase, short chain 1 Enzyme 10 0.601 0.654 8.8E-04 0.110 None 1.000 1 1 2016 2016