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: 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: 4576
Gene Symbol: TRNT
TRNT 		tRNA 14 0.729 0.538 0.100 None 0 2
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: 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: 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: 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: 106821730
Gene Symbol: BUB1B-PAK6
BUB1B-PAK6 		Q9NQU5 BUB1B-PAK6 readthrough 3 0.805 0.269 0.100 None 0 1
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		P00156 cytochrome b 8 0.529 0.808 0.100 None 0 14
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: 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: 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: 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: 999
Gene Symbol: CDH1
CDH1 		P12830 cadherin 1 10 0.401 0.808 0.15 0.480 None 1.000 0 2 1994 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		P43246 mutS homolog 2 Nucleic acid binding 20 0.406 0.808 0.90 0.700 None 1.000 0 3 1994 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.700 None 1.000 3 21 1997 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: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.700 None 0.984 6 12 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.900 None 1.000 1 4 1999 2019
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: 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: 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: 2956
Gene Symbol: MSH6
MSH6 		P52701 mutS homolog 6 Nucleic acid binding 18 0.462 0.731 3.7E-05 0.450 None 1.000 0 5 2002 2017