DisGeNET - a database of gene-disease associations

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME, C1969623

Variant: rs121434312 ×

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:

rs121434312

SPRED1

0.710

GeneticVariation

BEFREE

Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome.

25981987

2015

dbSNP:

rs121434312

SPRED1

0.710

CausalMutation

CLINVAR

Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome.

25981987

2015

dbSNP:

rs121434312

SPRED1

0.710

CausalMutation

CLINVAR

Legius syndrome in fourteen families.

21089071

2011

dbSNP:

rs121434312

SPRED1

0.710

CausalMutation

CLINVAR

Identification of five novel SPRED1 germline mutations in Legius syndrome.

21649642

2011

dbSNP:

rs121434312

SPRED1

0.710

CausalMutation

CLINVAR

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

17704776

2007