Source: BEFREE

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.500 None 0.971 78 7 1947 2019
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
cyclin dependent kinase 4 0.412 0.808 6.3E-02
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.500 strong 1.000 19 1 1996 2019
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.100 None 0.846 13 0 1994 2013
Entrez Id: 25913
Gene Symbol: POT1
POT1
protection of telomeres 1 0.560 0.731 0.85
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.050 None 1.000 5 3 2014 2020
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
melanocortin 1 receptor 0.524 0.808 8.1E-11
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.040 None 1.000 4 3 2010 2018
Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
TERT 5' regulatory region 0.464 0.731
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.030 None 1.000 3 0 2016 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.030 None 0.667 3 2 2003 2005
Entrez Id: 1030
Gene Symbol: CDKN2B
CDKN2B
cyclin dependent kinase inhibitor 2B 0.417 0.769 7.3E-03
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.030 None 1.000 3 0 1994 1997
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.030 None 1.000 3 0 1986 1989
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.030 None 1.000 3 0 2014 2019
Entrez Id: 1017
Gene Symbol: CDK2
CDK2
cyclin dependent kinase 2 0.456 0.692 0.61
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.020 None 1.000 2 0 1995 1998
Entrez Id: 6275
Gene Symbol: S100A4
S100A4
S100 calcium binding protein A4 0.448 0.769 6.2E-03
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.020 None 1.000 2 0 1994 1996
Entrez Id: 6298
Gene Symbol: SAI1
SAI1
suppression of anchorage independence 1 0.560 0.615
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.020 None 1.000 2 0 1994 1996
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.020 None 1.000 2 1 1995 1998
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 434
Gene Symbol: ASIP
ASIP
agouti signaling protein 0.584 0.692 1.6E-02
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 51639
Gene Symbol: SF3B6
SF3B6
splicing factor 3b subunit 6 0.544 0.808 0.59
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 54386
Gene Symbol: TERF2IP
TERF2IP
TERF2 interacting protein 0.548 0.731 2.7E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 8045
Gene Symbol: RASSF7
RASSF7
Ras association domain family member 7 0.621 0.538 2.3E-11
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 6006
Gene Symbol: RHCE
RHCE
Rh blood group CcEe antigens 0.666 0.500 1.2E-03
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.010 None 1.000 1 1 2002 2002