FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Disease: Poikiloderma of Kindler ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 21936020 2011
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 12789646 2003
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 12668616 2003
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		G 0.800 CausalMutation CLINVAR