TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 GeneticVariation disease BEFREE Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. 7633403 1995
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 GeneticVariation disease UNIPROT
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND