GTF2IRD1, GTF2I repeat domain containing 1, 9569

N. diseases: 222; N. variants: 8
Disease: Muscle Weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 Biomarker phenotype BEFREE GTF3 is a multidomain nuclear protein related to initiator element-binding transcription factor TF II-I; the genes for both proteins are deleted in persons with Williams-Beuren syndrome, who often manifest muscle weakness. 11713284 2001