DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: FH ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886041201

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

16597677

2006

dbSNP:

rs886039368

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

21398687

2011

dbSNP:

rs886039368

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structural basis of fumarate hydratase deficiency.

21445611

2011

dbSNP:

rs886039365

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

20618355

2011

dbSNP:

rs876660446

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.

21733559

2011

dbSNP:

rs876660446

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.

22561013

2012

dbSNP:

rs876660446

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Germline FH mutations presenting with pheochromocytoma.

25004247

2014

dbSNP:

rs876658569

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs863224016

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs863224015

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

11865300

2002

dbSNP:

rs863224015

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

21398687

2011

dbSNP:

rs863224015

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structural basis of fumarate hydratase deficiency.

21445611

2011

dbSNP:

rs863224015

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.

23320739

2013

dbSNP:

rs863224008

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs863224002

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.

22561013

2012

dbSNP:

rs863224002

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structural basis of fumarate hydratase deficiency.

21445611

2011

dbSNP:

rs863224000

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Molecular analysis and prenatal diagnosis of human fumarase deficiency.

9635293

1998

dbSNP:

rs863224000

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

21398687

2011

dbSNP:

rs863223992

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

TGTGA

0.700

CausalMutation

CLINVAR

dbSNP:

rs863223990

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

CTCAT

0.700

CausalMutation

CLINVAR

Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.

22561013

2012

dbSNP:

rs863223982

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs863223980

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs863223980

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

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

dbSNP:

rs863223977

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs863223973

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas.

24684806

2014