rs539612316, ALMS1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alstrom Syndrome
CUI: C0268425
Disease: Alstrom Syndrome
0.700 CausalMutation CLINVAR Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 27665122 2018
Truncal obesity
CUI: C4551560
Disease: Truncal obesity
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Blindness
CUI: C0456909
Disease: Blindness
0.700 CausalMutation CLINVAR