Details of Disease | DrugMAP

General Information of Disease (ID: DISGDBX3)

Disease Name	VACTERL association, X-linked, with or without hydrocephalus
Synonyms	VACTERL association with hydrocephaly, X-linked; X-linked VACTERL-H syndrome; VACTERLX; VACTERL-H, X-linked; VACTERL association, X-linked, X-linked recessive; VACTERL association, X-linked, with or without hydrocephalus
Disease Hierarchy	DISJNE30: VACTERL/vater association DISB79CB: VACTERL with hydrocephalus DISGDBX3: VACTERL association, X-linked, with or without hydrocephalus
Disease Identifiers	MONDO ID MONDO_0010752 UMLS CUI C2931228 OMIM ID 314390 MedGen ID 419019

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZIC3	OTGPKZBA	Definitive	X-linked recessive	[1]
FANCB	OTMZTXB5	Strong	X-linked	[2]
------------------------------------------------------------------------------------

References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.