Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940580
rs28940580
MEFV
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		G 0.890 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 10090880

1999
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		G 0.890 CausalMutation CLINVAR Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 10090880

1999
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. 10234504

1999
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. 10364520

1999
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. 10612841

2000
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0003864
Disease: Arthritis
Arthritis 		0.020 GeneticVariation BEFREE Arthritis frequency was found to be lower in the patients with homozygous Met680Ile mutation. 10662876

2000
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.890 GeneticVariation BEFREE Recently, the gene responsible for FMF, MEFV, has been cloned and four missense mutations (M680I, M694V, V726A and M694I) have been described. 10709887

2000
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Sixty-five patients clinically diagnosed as having FMF underwent molecular genetic studies using polymerase chain reaction and restriction endonuclease digestion methods to detect the presence of the 4 mutations (M694V, V726A, M680I, M694I). 10852276

2000
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. 11464248

2001
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		G 0.890 CausalMutation CLINVAR The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. 11468188

2001
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes. 11938447

2002
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		G 0.890 CausalMutation CLINVAR MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. 12401847

2002
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.890 GeneticVariation BEFREE To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis. 12908875

2003
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.010 GeneticVariation BEFREE Familial Mediterranean fever, inflammation and nephrotic syndrome: fibrillary glomerulopathy and the M680I missense mutation. 12908875

2003
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0268749
Disease: Fibrillary glomerulonephritis
Fibrillary glomerulonephritis 		0.010 GeneticVariation BEFREE To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis. 12908875

2003
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 GeneticVariation BEFREE To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis. 12908875

2003
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.890 GeneticVariation BEFREE In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method. 15122067

2004
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 GeneticVariation BEFREE In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method. 15122067

2004
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		G 0.890 CausalMutation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
dbSNP: rs28940580
rs28940580
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.890 CausalMutation CLINVAR Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. 16234278

2006