FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Disease: Spots on skin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0848332
Disease: Spots on skin
Spots on skin 		0.010 GeneticVariation phenotype BEFREE All patients presented duplication mutations (c.456dupA and c.676dupC) in FERMT1, and slipped mispairing in direct nucleotide repeats was identified as the reversion mechanism in all investigated revertant skin spots. 22466645 2012