×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
We named this newly identified association caused by RASA1 mutations "CM-AVM ," for capillary malformation-arteriovenous malformation .
14639529
2003
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GermlineCausalMutation
disease
ORPHANET
We named this newly identified association caused by RASA1 mutations "CM-AVM ," for capillary malformation-arteriovenous malformation .
14639529
2003
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
Biomarker
disease
GENOMICS_ENGLAND
We named this newly identified association caused by RASA1 mutations "CM-AVM ," for capillary malformation-arteriovenous malformation .
14639529
2003
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
Recently a rare form of hereditary vascular malformation termed capillary malformation-arteriovenous malformation (CM-AVM ) was shown to be caused by heterozygous mutations in RASA1 , encoding RAS p21 protein activator 1 .
18363760
2008
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
CausalMutation
disease
CLINVAR
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
18446851
2008
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
Mutations in the RASA1 gene have been shown to underlie the capillary malformation-arterio-venous malformation (CM-AVM ) syndrome, sometimes presenting with PWS.
18327598
2008
×
Entrez Id:
902
Gene Symbol:
CCNH
CCNH
0.100
CausalMutation
disease
CLINVAR
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
18446851
2008
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
Biomarker
disease
BEFREE
Haploinsufficiency of RASA1 , located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM ).
21626678
2011
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
0.010
GeneticVariation
disease
BEFREE
This finding highlights the need to assess for CM-AVM in patients with neurologic features consistent with MEF2C haploinsufficiency, and vice versa.
21626678
2011
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
In humans, RASA1 mutations cause capillary malformation-arteriovenous malformation (CM-AVM ); whether it also functions as a regulator of the lymphatic vasculature is unknown.
22232212
2012
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
CausalMutation
disease
CLINVAR
CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.
23164092
2012
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
Capillary malformation-arteriovenous malformation is caused by mutation in RASA1 .
22913934
2012
×
Entrez Id:
902
Gene Symbol:
CCNH
CCNH
0.100
CausalMutation
disease
CLINVAR
CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.
23164092
2012
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
Mutations in gene RASA1 have been historically associated with capillary malformation-arteriovenous malformation , but sporadic reports of lymphatic involvement have yet to be investigated in detail.
23650393
2013
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
CLINVAR
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
24038909
2013
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM ) presenting during pregnancy.
23687085
2013
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
CausalMutation
disease
CLINVAR
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
24038909
2013
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
Biomarker
disease
BEFREE
These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1 -related disorders (capillary malformation-arteriovenous malformation syndrome ).
23972370
2013
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes.
24038909
2013
×
Entrez Id:
10617
Gene Symbol:
STAMBP
STAMBP
0.300
Biomarker
disease
CTD_human
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
23542699
2013
×
Entrez Id:
902
Gene Symbol:
CCNH
CCNH
0.100
CausalMutation
disease
CLINVAR
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
24038909
2013
×
Entrez Id:
902
Gene Symbol:
CCNH
CCNH
0.100
GeneticVariation
disease
CLINVAR
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
24038909
2013
×
Entrez Id:
5922
Gene Symbol:
RASA2
RASA2
0.020
GeneticVariation
disease
BEFREE
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120-RasGAP .
23687085
2013
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.800
GeneticVariation
disease
BEFREE
Capillary malformation-arteriovenous malformation (CM-AVM ) is a recently described autosomal dominant disorder that results from mutations in RASA1 .
24168113
2014