Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Irregular hyperpigmentation of back
CUI: C4024854
Disease: Irregular hyperpigmentation of back
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016