Source: CLINGEN

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 CLINGEN Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. 27523285

2016
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker CLINGEN Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. 21071598

2011
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker CLINGEN Alms1-disrupted mice recapitulate human Alström syndrome. 16000322

2005
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker CLINGEN Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369

2002
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker CLINGEN Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 11941370

2002