TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Kenny-Caffey syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		0.010 Biomarker disease BEFREE The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome. 9475091 1998