Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further refinement of COL4A1 and COL4A2 related cortical malformations.
|
30315939 |
2018 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Missense mutations of COL4A1 that encode the CB3 [IV] segment of the triple helical domain (exons 24 and 25) are associated with HANAC syndrome (hereditary angiopathy, nephropathy, aneurysms and cramps).
|
27190376 |
2016 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
GeneticVariation
|
disease |
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 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene].
|
19238787 |
2008 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
|
18160688 |
2007 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
|
18160688 |
2007 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
|
18160688 |
2007 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|