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 GeneticVariation disease BEFREE The aim of our study was to further define the spectrum of ALMS1 mutations in patients with clinical features of ALMS. 25846608 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease CLINVAR Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 26104972 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies. 25296579 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. 26104972 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE ALMS1 and DYSF are genetically and physically linked on chromosome 2 in a genomic region suggested by HM and associated with Alström syndrome, which includes CRD, and with limb girdle muscular dystrophy, respectively. 26077327 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. 25296579 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Alström Syndrome: Mutation Spectrum of ALMS1. 25846608 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy. 25706677 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE Here we investigated the role of Alms1 disruption in AT expansion and insulin responsiveness in a murine model for Alström Syndrome. 25299671 2014
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome. 24462884 2014
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Our observation broadens the clinical spectrum of Alström syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin-dependent diabetes. 23652376 2014
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease BEFREE Our findings show how atypical cases of AS may be missed under the current diagnostic guidelines and support consideration of complete ALMS1 sequencing in children with two or more features, even if all of the core clinical features of AS are not present. 24503146 2014
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström Syndrome (ALMS) is an extremely rare multiorgan disease caused by mutations in ALMS1. 22498418 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. 22447358 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome. 24319333 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. 22447358 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease CTD_human Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome. 22447358 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients with AS. 24049434 2013
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737 2012
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. 22876109 2012
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Our findings expand the spectrum of ALMS1 mutations causing Alström syndrome. 22876109 2012