Details of Disease | DrugMAP

General Information of Disease (ID: DISXIWVG)

Disease Name	Tubulinopathy-associated dysgyria
Synonyms	brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Disease Hierarchy	DISB3627: Tubulinopathy DISOV08L: Central nervous system malformation DISXIWVG: Tubulinopathy-associated dysgyria
Disease Identifiers	MONDO ID MONDO_0018763 UMLS CUI C5568850 MedGen ID 1800273 Orphanet ID 467166 SNOMED CT ID 1187215002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBA1A	OTDVFXEQ	Supportive	Autosomal dominant	[1]
TUBB2B	OTJ2OTQT	Supportive	Autosomal dominant	[1]
TUBB3	OTI95VOO	Supportive	Autosomal dominant	[1]
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References

1	Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15;24(18):5313-25. doi: 10.1093/hmg/ddv250. Epub 2015 Jun 30.