|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation.
|
26237645 |
2015 |
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
|
11865300 |
2002 |
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
|
8200987 |
1994 |
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
|
26900816 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma.
|
24625422 |
2014 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome.
|
23211287 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural basis of fumarate hydratase deficiency.
|
21445611 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
|
21630274 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.
|
19939761 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
|
15937070 |
2006 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
|
16757530 |
2006 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
|
16029320 |
2005 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
|
12761039 |
2003 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
|
11865300 |
2002 |
|
Cutaneous leiomyoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Breast Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Uterine Fibroids
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Fumarase deficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|