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: rs869312720
rs869312720
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869312721
rs869312721
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869312722
rs869312722
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR FERMT1 promoter mutations in patients with Kindler syndrome. 25156791 2015
dbSNP: rs869312723
rs869312723
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869312724
rs869312724
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		CT 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
dbSNP: rs869312725
rs869312725
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		T 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
dbSNP: rs869312726
rs869312726
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869312727
rs869312727
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		G 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
dbSNP: rs869312728
rs869312728
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869312729
rs869312729
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869312730
rs869312730
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
dbSNP: rs869312731
rs869312731
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		T 0.700 CausalMutation CLINVAR In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins. 14962093 2004
dbSNP: rs765716291
rs765716291
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.010 GeneticVariation BEFREE The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene. 24346923 2014