Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.030 GeneticVariation disease BEFREE Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by a mutation in the ALMS1 gene and characterised by childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes and extreme insulin resistance. 30477455 2018
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.030 GeneticVariation disease BEFREE Alström Syndrome, a recessive ciliopathy, caused by mutations in ALMS1, is characterized by progressive metabolic alterations such as childhood obesity, hyperinsulinemia, and type 2 diabetes. 25299671 2014
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.030 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