Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lumbosacral hirsutism
CUI: C1851095
Disease: Lumbosacral hirsutism
0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Lumbosacral hirsutism
CUI: C1851095
Disease: Lumbosacral hirsutism
0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012