Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 27533158

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Bloom syndrome in short children born small for gestational age: a challenging diagnosis. 23928670

2013