TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Disease: CORTICAL MALFORMATIONS, OCCIPITAL ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279875
Disease: CORTICAL MALFORMATIONS, OCCIPITAL
CORTICAL MALFORMATIONS, OCCIPITAL 		0.300 GermlineCausalMutation disease ORPHANET Mutations in TBR1 gene leads to cortical malformations and intellectual disability. 30268909 2018