TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS
0.010 Biomarker disease BEFREE A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed GVMs; no other family member could be tested.TIE2 sequencing revealed no mutations. 22407726 2012