Source: CGI

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		0.900 CausalMutation CGI

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0023418
Disease: leukemia
leukemia 		0.900 CausalMutation CGI

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0023418
Disease: leukemia
leukemia 		0.900 GenomicAlterations CGI

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.900 GenomicAlterations CGI

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.900 CausalMutation CGI

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.900 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.900 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 CausalMutation CGI

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 CausalMutation CGI

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 CausalMutation CGI

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 GenomicAlterations CGI

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.900 CausalMutation CGI

Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.900 CausalMutation CGI

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 CausalMutation CGI

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CGI

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CGI

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CGI

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CGI

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GenomicAlterations CGI

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CGI

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GenomicAlterations CGI

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		0.800 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 CausalMutation CGI

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.800 CausalMutation CGI

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.800 CausalMutation CGI