Gene: FTL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514540
rs397514540
FTL
0.800 GeneticVariation UNIPROT A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. 19176363

2009
dbSNP: rs397514540
rs397514540
FTL
T 0.800 CausalMutation CLINVAR

dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. 22881709

2013
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. 23421845

2013
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. 19800271

2010
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. 10383191

1999
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. 9414313

1998
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. 9226182

1997
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. 7493028

1995
dbSNP: rs398124637
rs398124637
FTL
A 0.700 CausalMutation CLINVAR Structural requirements of iron-responsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA post-transcriptional regulation. 2336358

1990
dbSNP: rs1555796939
rs1555796939
FTL
G 0.700 CausalMutation CLINVAR

dbSNP: rs398124633
rs398124633
FTL
G 0.700 CausalMutation CLINVAR

dbSNP: rs398124634
rs398124634
FTL
C 0.700 CausalMutation CLINVAR

dbSNP: rs398124635
rs398124635
FTL
A 0.700 CausalMutation CLINVAR

dbSNP: rs398124635
rs398124635
FTL
T 0.700 CausalMutation CLINVAR

dbSNP: rs398124635
rs398124635
FTL
C 0.700 CausalMutation CLINVAR

dbSNP: rs398124636
rs398124636
FTL
T 0.700 CausalMutation CLINVAR

dbSNP: rs398124637
rs398124637
FTL
T 0.700 CausalMutation CLINVAR

dbSNP: rs398124638
rs398124638
FTL
C 0.700 CausalMutation CLINVAR

dbSNP: rs398124639
rs398124639
FTL
G 0.700 CausalMutation CLINVAR