DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs786202782 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786202782

NF1

0.700

CausalMutation

CLINVAR

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

26514327

2016

dbSNP:

rs786202782

NF1

0.700

CausalMutation

CLINVAR

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

25788518

2015

dbSNP:

rs786202782

NF1

0.700

CausalMutation

CLINVAR

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

17311297

2007

dbSNP:

rs786202782

NF1

0.700

CausalMutation

CLINVAR

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

12807981

2003

dbSNP:

rs786202782

NF1

0.700

CausalMutation

CLINVAR

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

9783703

1998