DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Muscle hypotonia ×

Variant: rs1555392032 ×

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:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

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

24334617

2013

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Review and update of SPRED1 mutations causing Legius syndrome.

22753041

2012

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Observations on intelligence and behavior in 15 patients with Legius syndrome.

21495177

2011

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Identification of five novel SPRED1 germline mutations in Legius syndrome.

21649642

2011

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

21548021

2011

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Legius syndrome in fourteen families.

21089071

2011

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

SPRED 1 mutations in a neurofibromatosis clinic.

20179001

2010

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

20339110

2010

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

19366998

2009

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

19920235

2009

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

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

19443465

2009

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

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

17704776

2007

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Spred is a Sprouty-related suppressor of Ras signalling.

11493923

2001

dbSNP:

rs1555392032

SPRED1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

3128965

1988