|
Familial Mediterranean Fever, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever. A survey of 470 cases and review of the literature.
|
5340644 |
1967 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever. A survey of 470 cases and review of the literature.
|
5340644 |
1967 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.
|
4015155 |
1985 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.
|
4015155 |
1985 |
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
Dysmorphic features
|
|
0.700 |
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 |
|
Overgrowth
|
|
0.700 |
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Pyrin/marenostrin mutations in familial Mediterranean fever.
|
10024914 |
1998 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
|
9668175 |
1998 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
|
9668175 |
1998 |
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
|
10234504 |
1999 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever diagnosed by PCR.
|
10879615 |
2000 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
|
10612841 |
2000 |
|
Behcet Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%).
|
10980540 |
2000 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks).
|
11464238 |
2001 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
|
11468188 |
2001 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
|
11468188 |
2001 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Six sequence alterations (M694V, V726A, K695R, M680I, M694I, and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.
|
11977178 |
2002 |
|
Amyloid nephropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Homozygotes for the M694V mutation and the complex V726A-E148Q allele are the most severely affected and often endure renal amyloidosis.
|
11938447 |
2002 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
|
Amyloidosis
|
|
0.030 |
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 |