DisGeNET - a database of gene-disease associations

SPRED1, sprouty related EVH1 domain containing 1, 161742

N. diseases: 58; N. variants: 34

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434318

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.800

GeneticVariation

UNIPROT

Legius syndrome in fourteen families.

21089071

2011

dbSNP:

rs121434318

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.800

GeneticVariation

UNIPROT

Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

20108422

2010

dbSNP:

rs121434318

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.800

GeneticVariation

UNIPROT

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

19443465

2009

dbSNP:

rs121434318

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.800

GeneticVariation

UNIPROT

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

17704776

2007

dbSNP:

rs121434318

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057517941

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

GeneticVariation

BEFREE

In one case we identified a nonsense mutation c.46C>T (p.Arg16*) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome.This mutation was reported previously.

28150585

2017

dbSNP:

rs1057517941

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

CausalMutation

CLINVAR

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

25074460

2015

dbSNP:

rs121434312

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

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

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

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

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

CausalMutation

CLINVAR

Legius syndrome in fourteen families.

21089071

2011

dbSNP:

rs121434312

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

CausalMutation

CLINVAR

Identification of five novel SPRED1 germline mutations in Legius syndrome.

21649642

2011

dbSNP:

rs1057517941

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

CausalMutation

CLINVAR

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

19366998

2009

dbSNP:

rs1057517941

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

CausalMutation

CLINVAR

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

19443465

2009

dbSNP:

rs121434312

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.710

CausalMutation

CLINVAR

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

17704776

2007

dbSNP:

rs7175472

Entrez Id:	161742;107984760
Gene Symbol:	SPRED1;LOC107984760

SPRED1;LOC107984760

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs7175472

Entrez Id:	161742;107984760
Gene Symbol:	SPRED1;LOC107984760

SPRED1;LOC107984760

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs1555392032

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

24334617

2013

dbSNP:

rs1555392032

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

24334617

2013

dbSNP:

rs1555392032

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

24334617

2013

dbSNP:

rs1555392032

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Review and update of SPRED1 mutations causing Legius syndrome.

22753041

2012

dbSNP:

rs1555392032

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Review and update of SPRED1 mutations causing Legius syndrome.

22753041

2012

dbSNP:

rs1555392032

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Review and update of SPRED1 mutations causing Legius syndrome.

22753041

2012

dbSNP:

rs1555392609

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

CausalMutation

CLINVAR

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.

22751498

2012

dbSNP:

rs121434313

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

CausalMutation

CLINVAR

Legius syndrome in fourteen families.

21089071

2011

dbSNP:

rs121434315

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

CUI:	C1969623
Disease:

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

CausalMutation

CLINVAR

Legius syndrome in fourteen families.

21089071

2011