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: 51023
Gene Symbol: MRPS18C
MRPS18C 		Q9Y3D5 mitochondrial ribosomal protein S18C Nucleic acid binding 2 0.890 0.154 8.8E-05 0.100 None 0 1
Entrez Id: 56924
Gene Symbol: PAK6
PAK6 		Q9NQU5 p21 (RAC1) activated kinase 6 3 0.729 0.385 4.3E-05 0.100 None 0 1
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 3 0.502 0.808 7.0E-10 0.100 None 0 1
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		tRNA 14 0.729 0.538 0.100 None 0 2
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		P00156 cytochrome b 8 0.529 0.808 0.100 None 0 14
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		P49959 MRE11 homolog, double strand break repair nuclease 21 0.527 0.808 1.3E-12 0.100 None 0 2
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		Q86XK2 F-box protein 11 Enzyme 18 0.604 0.692 1.00 0.100 None 0 5
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2 		P62070 RAS related 2 Enzyme modulator 2 0.656 0.500 0.97 0.400 None 0 1
Entrez Id: 106821730
Gene Symbol: BUB1B-PAK6
BUB1B-PAK6 		Q9NQU5 BUB1B-PAK6 readthrough 3 0.805 0.269 0.100 None 0 1
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		Q8NCR3 chromosome 11 open reading frame 65 32 0.670 0.462 2.0E-14 0.100 None 0 2
Entrez Id: 4683
Gene Symbol: NBN
NBN 		O60934 nibrin Nucleic acid binding 15 0.467 0.808 2.2E-16 0.140 None 0.500 0 1 2007 2019
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 0.200 None 0.667 0 8 2008 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.200 None 0.769 0 2 2002 2019
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2 		O43543 X-ray repair cross complementing 2 2 0.512 0.731 4.0E-07 0.200 None 0.800 0 1 2005 2016
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.170 None 0.857 0 5 1999 2019
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D 		O75771 RAD51 paralog D 5 0.674 0.385 1.1E-09 0.500 None 0.857 0 4 2011 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		Q99728 BRCA1 associated RING domain 1 7 0.597 0.538 1.4E-24 0.200 None 0.875 0 1 1998 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.700 None 0.903 8 3 1991 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.900 None 0.947 1 36 1994 2020
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		P04626 erb-b2 receptor tyrosine kinase 2 Kinase 23 0.328 0.923 6.0E-03 0.700 None 0.951 0 1 1989 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.500 None 0.958 9 3 2002 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.700 None 0.963 0 170 1991 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 22 0.367 0.923 9.2E-29 0.700 None 0.965 1 67 1992 2020
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		O43502 RAD51 paralog C 5 0.533 0.692 6.2E-14 0.500 None 0.969 0 6 2010 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 15 0.507 0.731 6.2E-17 0.490 None 0.974 33 44 2005 2020