TUBG1, tubulin gamma 1, 7283

N. diseases: 22; N. variants: 3
Disease: Pachygyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 GeneticVariation disease BEFREE Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. 29706637 2018
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 Biomarker disease HPO