Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker MGD

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker MGD

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker MGD

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker MGD

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker MGD

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker MGD

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
1.000 Biomarker MGD

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
1.000 Biomarker MGD

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
1.000 Biomarker MGD

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker MGD

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker MGD

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
1.000 Biomarker MGD

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker MGD

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker MGD

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker MGD

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker MGD

Entrez Id: 5311
Gene Symbol: PKD2
PKD2
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker MGD

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker MGD

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
1.000 Biomarker MGD

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
1.000 Biomarker MGD

Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome
1.000 Biomarker MGD

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome
1.000 Biomarker MGD

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker MGD

Entrez Id: 10682
Gene Symbol: EBP
EBP
Chondrodysplasia punctata, X-linked dominant type
1.000 Biomarker MGD

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
1.000 Biomarker MGD