Details of Disease | DrugMAP

General Information of Disease (ID: DISGA722)

Disease Name	Congenital disorder of glycosylation, type Iw, autosomal dominant
Disease Hierarchy	DIS400QP: Congenital disorder of glycosylation DISGA722: Congenital disorder of glycosylation, type Iw, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0859223 UMLS CUI C5562068 OMIM ID 619714 MedGen ID 1794278

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STT3A	OTDPS6AV	Strong	Autosomal dominant	[1]
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References

1	Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14.