TENM3, teneurin transmembrane protein 3, 55714

N. diseases: 72; N. variants: 27
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygous null mutation in ODZ3 causes microphthalmia in humans. 22766609 2012
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygous null mutation in ODZ3 causes microphthalmia in humans. 22766609 2012
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		0.600 GeneticVariation disease CLINVAR
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		0.600 Biomarker disease CTD_human