Disease: Alstrom Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. 9921899 1998
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease CLINGEN Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE The identification of ALMS1 provides an entry point into a new pathway leading toward the understanding of both Alström syndrome and the common diseases that characterize it. 11941369 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease CLINVAR Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. 11941369 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 11941370 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 11941370 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE We have detected six different mutations (two nonsense and four frameshift mutations causing premature stop codons) in seven families, confirming that ALMS1 is the gene underlying Alström syndrome. 11941370 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease CLINGEN Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. 11941370 2002
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. 15689433 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. 15689433 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss. 16000322 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease CLINGEN Alms1-disrupted mice recapitulate human Alström syndrome. 16000322 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease MGD Alms1-disrupted mice recapitulate human Alström syndrome. 16000322 2005
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease MGD Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice. 16516152 2006
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. 16720663 2006
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. 16720663 2006
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease MGD A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. 17206865 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. 17206865 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease CLINVAR Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. 17594715 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome. 17850632 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE DNA sequence analysis of ALMS1, the causative gene in Alström syndrome, identified a novel homozygous disease-causing mutation, c.8164C>T, resulting in a premature termination codon in exon 10 in each of the three affected sisters. 17850632 2007