Details of Disease | DrugMAP

General Information of Disease (ID: DISS6UQH)

Disease Name	Obsolete short rib-polydactyly syndrome, Verma-Naumoff type
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISS6UQH: Obsolete short rib-polydactyly syndrome, Verma-Naumoff type

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WDR35	OTAFVPBO	Supportive	Autosomal recessive	[1]
DYNC2H1	OTLC8K6B	Supportive	Autosomal recessive	[2]
DYNC2I1	OTFTWIT7	Supportive	Autosomal recessive	[3]
DYNC2I2	OTUVR2OO	Supportive	Autosomal recessive	[4]
IFT80	OTMH0MBI	Supportive	Autosomal recessive	[2]
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References

1	Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015.
2	Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12.
3	Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1.
4	WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-B pathway in cilia. Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31.