VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
|
27519652 |
2017 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
|
27519652 |
2017 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
This result suggested that, like those in Caucasian families, the R849W mutation in TIE2 could be one of the major causes for VMCM in Asian families.
|
22621187 |
2012 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations.
|
19888299 |
2010 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations.
|
19888299 |
2010 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
|
19079259 |
2009 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
Biomarker
|
disease |
BEFREE |
These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome.
|
16379592 |
2005 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Allelic and locus heterogeneity in inherited venous malformations.
|
10369874 |
1999 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Allelic and locus heterogeneity in inherited venous malformations.
|
10369874 |
1999 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.
|
8980225 |
1996 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|