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 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 CausalMutation disease CLINVAR Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. 28432734 2017
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 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 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 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 CausalMutation disease CLINVAR Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 AlteredExpression disease BEFREE Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1. 20381594 2010
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 GeneticVariation disease BEFREE Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. 28407410 2017
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 CausalMutation disease CLINVAR ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. 26010121 2016
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1.000 GeneticVariation disease BEFREE Overall, due to the large size of the ALMS1 gene and clinical similarity with other ciliopathies and genetic disorders, whole exome sequencing can be useful for the identification of pathogenic mutations and the improvement of AS clinical management. 31669637 2020
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 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 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 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 AlteredExpression disease BEFREE ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service. 28717663 2017
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 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 GeneticVariation disease BEFREE Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene. 31755649 2020
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 BEFREE Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations. 28402684 2017
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 GeneticVariation disease BEFREE Five novel ALMS1 gene mutations in six patients with Alström syndrome. 29715191 2018