Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Legius syndrome, an Update. Molecular pathology of mutations in SPRED1. 24334617

2013

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Review and update of SPRED1 mutations causing Legius syndrome. 22753041

2012

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. 21548021

2011

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Observations on intelligence and behavior in 15 patients with Legius syndrome. 21495177

2011

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Identification of five novel SPRED1 germline mutations in Legius syndrome. 21649642

2011

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR SPRED 1 mutations in a neurofibromatosis clinic. 20179001

2010

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? 20339110

2010

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 19366998

2009

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 19443465

2009

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776

2007

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Spred is a Sprouty-related suppressor of Ras signalling. 11493923

2001

Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. 3128965

1988