Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 GeneticVariation disease BEFREE Fibrosing steatohepatitis was established in Alms1 mutant (foz/foz) and C57BL/6J wildtype mice fed high-fat/high-cholesterol or methionine- and choline-deficient diet. 30945293 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 Biomarker group BEFREE After adjusting for age, there were no significant associations of kidney dysfunction with type 2 diabetes mellitus, dyslipidemia, hypertension, cardiomyopathy or portal hypertension suggesting that kidney disease in AS is a primary manifestation of the syndrome due to lack of ALMS1 protein. 30064963 2018
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 Biomarker disease BEFREE In conclusion, inflammation‑associated genes, including STAT3, CCR1, RAC1, MMP9, CCR10, CSF3R and HTRA1, as well as cell cycle‑associated genes such as ALMS1, may be biomarkers for the diagnosis and prognosis of AMI in Chinese people. 29845217 2018
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 Biomarker disease BEFREE After adjusting for age, there were no significant associations of kidney dysfunction with type 2 diabetes mellitus, dyslipidemia, hypertension, cardiomyopathy or portal hypertension suggesting that kidney disease in AS is a primary manifestation of the syndrome due to lack of ALMS1 protein. 30064963 2018
CUI: C2931208
Disease: Usher syndrome, type 1D
Usher syndrome, type 1D 		0.010 GeneticVariation disease BEFREE This strategy would still not suffice for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively. 29292161 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 GeneticVariation disease BEFREE Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. 28135309 2017
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. 28135309 2017
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. 28135309 2017
CUI: C0271972
Disease: Thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia 		0.010 Biomarker disease BEFREE We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. 28432734 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 Biomarker group BEFREE Our study thus implicates ALMS1 as a nonsyndromic retinal disease gene and suggests a potential role of variants in interacting cilia genes in modifying clinical phenotypes. 26077327 2015
CUI: C0339530
Disease: Progressive cone-rod dystrophy
Progressive cone-rod dystrophy 		0.010 GeneticVariation disease BEFREE Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure. 25846608 2015
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 GeneticVariation group BEFREE Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. 26077327 2015
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation group BEFREE Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. 24972238 2014
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation disease BEFREE The glutamic acid repeat polymorphism of ALMS1 identified in the present study may provide insight into the pathogenesis of early-onset MI. 24122612 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Fibroblasts with disrupted ALMS1 assemble primary cilia and microtubule cytoskeletons that appear normal, suggesting that the Alström syndrome phenotype results from impaired function rather than abnormal development. 15855349 2005
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 GeneticVariation phenotype BEFREE Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes. 16000322 2005
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 GeneticVariation disease BEFREE Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes. 16000322 2005
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.020 GeneticVariation disease BEFREE In the present case, targeted genetic analysis of a child with a syndromic cone-rod dystrophy yielded a novel splicing mutation in ALMS1 causing Alstrom syndrome. 30600744 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 GeneticVariation disease BEFREE This study therefore investigated OCA effects in Wt mice, which develop obesity with atherogenic dietary feeding, and appetite-dysregulated, Alms1 mutant foz/foz mice fed the same diet, which develop metabolic obesity and diabetes. 27804232 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 GeneticVariation group BEFREE This study therefore investigated OCA effects in Wt mice, which develop obesity with atherogenic dietary feeding, and appetite-dysregulated, Alms1 mutant foz/foz mice fed the same diet, which develop metabolic obesity and diabetes. 27804232 2017
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.020 GeneticVariation disease BEFREE Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. 26077327 2015
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 GeneticVariation group 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: C4277690
Disease: Ciliopathies
Ciliopathies 		0.030 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