rs587779349, BRCA2

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
Glial tumor of brain (disorder)
CUI: C0349661
Disease: Glial tumor of brain (disorder)
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
Ectopic kidney
CUI: C0238207
Disease: Ectopic kidney
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR