TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: Primary congenital glaucoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 GeneticVariation disease BEFREE A 13-month-old male with bilateral primary congenital glaucoma due to a loss of function TEK mutation. 30318913 2020
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 Biomarker disease BEFREE We previously reported loss of function mutations in the receptor tyrosine kinase TEK or its ligand ANGPT1 cause primary congenital glaucoma in humans and mice due to failure of SC development. 31621585 2019
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 GeneticVariation disease BEFREE We previously identified loss-of-function mutations in the angiopoietin (ANGPT) receptor TEK in families with PCG and showed that ANGPT/TEK signaling is essential for SC development. 29106382 2017
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 Biomarker disease BEFREE Mutations in three genes (CYP1B1, LTBP2, TEK) have been reported in PCG patients. 28549150 2017
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 GeneticVariation disease BEFREE Recently, rare heterozygous alleles in the angiopoietin receptor-encoding gene TEK were implicated in PCG. 28620713 2017
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 GeneticVariation disease BEFREE Collectively, these results identify TEK mutations in patients with PCG that likely underlie disease and are transmitted in an autosomal dominant pattern with variable expressivity. 27270174 2016
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.160 Biomarker disease HPO