Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Alström Syndrome: Mutation Spectrum of ALMS1. 25846608

2015
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737

2012
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome. 17850632

2007
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. 15689433

2005
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 11941370

2002
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. 9921899

1998
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND