DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs104894302 ×

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:

rs104894302

SDHD

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

22241717

2012

dbSNP:

rs104894302

SDHD

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

22025150

2011

dbSNP:

rs104894302

SDHD

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

10657297

2000