TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: 22q11 partial monosomy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 GermlineCausalMutation disease ORPHANET Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 GeneticVariation disease BEFREE Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects. 11811651 2002
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 ChromosomalRearrangement disease ORPHANET