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: 7157
Gene Symbol: TP53
TP53
P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 1.000 None 0.959 3 67 1990 2020
Entrez Id: 841
Gene Symbol: CASP8
CASP8
Q14790 caspase 8 Enzyme 2 0.404 0.923 3.7E-06 0.900 None 1.000 0 1 1998 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 70 0.303 0.885 1.00 0.800 strong 0.982 2 15 1998 2020
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 0.800 None 0.966 1 11 2002 2020
Entrez Id: 8312
Gene Symbol: AXIN1
AXIN1
O15169 axin 1 1 0.559 0.577 0.41 0.800 None 0.944 0 1 2000 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
P42771 Q8N726 cyclin dependent kinase inhibitor 2A 22 0.300 0.885 0.39 0.700 None 0.984 1 3 1996 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 0.920 1 2 1985 2020
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
P11717 insulin like growth factor 2 receptor Receptor 1 0.518 0.731 1.00 0.700 None 1.000 0 2 1995 2019
Entrez Id: 324
Gene Symbol: APC
APC
P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.700 None 0.963 0 11 1993 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
P01112 HRas proto-oncogene, GTPase Enzyme modulator 71 0.378 0.885 8.0E-02 0.500 None 1.000 1 6 1985 2019
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
Q16236 nuclear factor, erythroid 2 like 2 Enzyme 10 0.357 0.885 3.6E-03 0.500 None 0.981 1 3 2004 2020
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.470 None 0.778 1 2 2012 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
P01111 NRAS proto-oncogene, GTPase Enzyme modulator 37 0.390 0.808 0.49 0.190 None 1.000 1 2 1989 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
P11362 fibroblast growth factor receptor 1 Kinase 27 0.362 0.885 1.00 0.190 None 1.000 1 2 2006 2020
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
P48735 isocitrate dehydrogenase (NADP(+)) 2 9 0.434 0.808 0.88 0.160 None 1.000 1 2 2014 2016
Entrez Id: 6256
Gene Symbol: RXRA
RXRA
P19793 retinoid X receptor alpha Nuclear receptor 3 0.543 0.769 1.00 0.130 None 1.000 1 1 2001 2018
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
O75533 splicing factor 3b subunit 1 Nucleic acid binding 8 0.511 0.731 1.00 0.120 None 1.000 1 1 2016 2020
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 40 0.428 0.808 1.00 0.110 None 1.000 1 2 2016 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 60 0.420 0.885 0.68 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
Q13435 splicing factor 3b subunit 2 9 0.780 0.308 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9125
Gene Symbol: CNOT9
CNOT9
Q92600 CCR4-NOT transcription complex subunit 9 5 0.769 0.192 0.99 0.100 None 1.000 1 2 2016 2016