Details of Disease | DrugMAP

General Information of Disease (ID: DISHA84K)

Disease Name	Neural tube defects, susceptibility to
Synonyms	neural tube defects, SUSCEPTIBILITY to; spina bifida; NTD; neural tube defects; spina bifida, susceptibility to
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISHA84K: Neural tube defects, susceptibility to
Disease Identifiers	MONDO ID MONDO_0020705 UMLS CUI C3891448 OMIM ID 182940 MedGen ID 856010

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VANGL1	OTYXI0WO	Limited	Autosomal dominant	[1]
VANGL2	OTJ7XQSI	Moderate	Autosomal dominant	[2]
CCL2	OTAD2HEL	No Known	Autosomal dominant	[3]
FUZ	OTC427QQ	Limited	Unknown	[5]
PARD3	OTH5BPLO	Limited	SusceptibilityMutation	[6]
CELSR1	OT7PS8O1	Moderate	Autosomal dominant	[7]
SCRIB	OTW4N3FV	Strong	Genetic Variation	[7]
TBXT	OTHCO2F0	Strong	Genetic Variation	[8]
DACT1	OT19Z704	Definitive	Genetic Variation	[9]
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⏷ Show the Full List of 9 DOT(s)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CCL2	TTNAY0P	No Known	Autosomal dominant	[3]
VANGL1	TT18WJB	Limited	Autosomal dominant	[1]
VANGL1	TT18WJB	Limited	Genetic Variation	[4]
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References

1	Mutations in VANGL1 associated with neural-tube defects. N Engl J Med. 2007 Apr 5;356(14):1432-7. doi: 10.1056/NEJMoa060651.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3	Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspring. Am J Med Genet A. 2006 May 15;140(10):1114-8. doi: 10.1002/ajmg.a.31212.
4	Novel mutations in VANGL1 in neural tube defects.Hum Mutat. 2009 Jul;30(7):E706-15. doi: 10.1002/humu.21026.
5	Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. Hum Mol Genet. 2011 Nov 15;20(22):4324-33. doi: 10.1093/hmg/ddr359. Epub 2011 Aug 12.
6	Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.Hum Mutat. 2017 Apr;38(4):378-389. doi: 10.1002/humu.23153. Epub 2017 Feb 15.
7	Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. 2012 Feb;33(2):440-7. doi: 10.1002/humu.21662. Epub 2011 Dec 20.
8	Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.
9	Identification of novel rare mutations of DACT1 in human neural tube defects.Hum Mutat. 2012 Oct;33(10):1450-5. doi: 10.1002/humu.22121. Epub 2012 Jun 19.