Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.030 GeneticVariation disease BEFREE Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene. 31755649 2020
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.030 GeneticVariation disease BEFREE No second, known ciliopathy mutation was found in the other patient, who had one LoF ALMS1 mutation. 28717663 2017