×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
24628545
2014
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
23394911
2013
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Childhood presentation of COL4A1 mutations.
22574627
2012
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Ophthalmological features associated with COL4A1 mutations.
20385946
2010
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
19477666
2010
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
19194877
2009
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
17379824
2007
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
17696175
2007
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
16598045
2006
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
16107487
2006
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Porencephaly, Type 1, Autosomal Dominant
0.900
GeneticVariation
UNIPROT
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
15905400
2005
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
0.770
GeneticVariation
UNIPROT
Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1 -related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease.
20818663
2010
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
0.770
GeneticVariation
UNIPROT
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
18160688
2007
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Schizencephaly
0.750
GeneticVariation
UNIPROT
Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia.
23225343
2013
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
RETINAL ARTERIES, TORTUOSITY OF
0.700
GeneticVariation
UNIPROT
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
25228067
2014
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
0.600
GeneticVariation
UNIPROT
This is the first assessment of the broader role for COL4A1 mutations in the etiology of ICH beyond a contribution to rare and severe familial cases and the first functional evaluation of the biosynthetic consequences of an allelic series of COL4A1 mutations that cause cerebrovascular disease.
22522439
2012