TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Disease: Chromosome 2, monosomy 2q24 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931816
Disease: Chromosome 2, monosomy 2q24
Chromosome 2, monosomy 2q24 		0.300 GeneticVariation phenotype ORPHANET TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. 24458984 2014