Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.130 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.130 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.130 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.130 Biomarker disease HPO