TENM3, teneurin transmembrane protein 3, 55714

N. diseases: 72; N. variants: 27
Disease: Microphthalmia and mental deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		0.020 GeneticVariation disease BEFREE This report supports the association of TENM3 variations with colobomatous microphthalmia and expands the phenotypic spectrum associated with pathogenic variations in this gene. 29753094 2019
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		0.020 GeneticVariation disease BEFREE This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. 27103084 2016