Source: CGI

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 CausalMutation CGI

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 CausalMutation CGI

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 CausalMutation CGI

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 GenomicAlterations CGI

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 CausalMutation CGI

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 CausalMutation CGI

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 CausalMutation CGI

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 CausalMutation CGI

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 CausalMutation CGI

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 CausalMutation CGI

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 GenomicAlterations CGI

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 CausalMutation CGI

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 CausalMutation CGI

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 GenomicAlterations CGI

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 CausalMutation CGI

Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 CausalMutation CGI

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.900 GenomicAlterations CGI

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
0.900 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0017638
Disease: Glioma
Glioma
0.900 CausalMutation CGI

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
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: 4763
Gene Symbol: NF1
NF1
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
0.900 CausalMutation CGI