FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Disease: Photosensitivity Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031762
Disease: Photosensitivity Disorders
Photosensitivity Disorders 		0.010 GeneticVariation group BEFREE Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. 14962093 2004