Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker CLINGEN In 102 of the 125 persons in whom at least one BLM mutation was identified, the mutation was recurrent, that is, it was shared by two or more persons with BS; 19 of the 64 different mutations were recurrent. 17407155

2007
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker CLINGEN Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. 12242442

2002
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker CLINGEN Cancer predisposition caused by elevated mitotic recombination in Bloom mice. 11101838

2000
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker CLINGEN Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659

2000
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker CLINGEN The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM. 7585968

1995