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: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.110 None 1.000 1 1 2018 2019
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.110 None 1.000 1 1 2016 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 17 0.578 0.654 1.6E-13 0.110 None 1.000 1 1 2001 2016
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 62 0.582 0.731 2.5E-04 0.110 None 1.000 0 3 2018 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 1.000 6 4 2001 2018
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 2 2006 2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.100 None 1.000 2 1 2007 2007
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 3 2017 2017
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6651
Gene Symbol: SON
SON 		P18583 SON DNA binding protein 7 0.565 0.769 1.00 0.100 None 1.000 1 5 2016 2016
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		P40926 malate dehydrogenase 2 Enzyme 7 0.595 0.731 6.7E-03 0.100 None 1.000 1 2 2017 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 3 2016 2016
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 18 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		Q9BUE6 iron-sulfur cluster assembly 1 11 0.792 0.231 0.17 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		P43155 carnitine O-acetyltransferase Enzyme 9 0.656 0.577 9.5E-12 0.100 None 1.000 1 2 2020 2020
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		Q01959 solute carrier family 6 member 3 Transporter 10 0.453 0.885 1.00 0.100 None 1.000 1 1 2012 2012
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		P30049 ATP synthase F1 subunit delta Transporter 43 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
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 1 2017 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 51 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		O75496 geminin DNA replication inhibitor 39 0.554 0.808 0.11 0.100 None 1.000 1 1 2015 2015
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 38 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 11 0.513 0.846 1.1E-25 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 23 0.471 0.808 7.0E-44 0.100 None 0 1