Details of Disease | DrugMAP

General Information of Disease (ID: DIS0GCAA)

Disease Name	Short rib-polydactyly syndrome, Majewski type
Synonyms	polydactyly with neonatal chondrodystrophy type 2; short rib-polydactyly syndrome Majewski type; SRPS type 2; short rib-polydactyly syndrome type 2
Disease Hierarchy	DISY2RES: Short rib-polydactyly syndrome DIS0GCAA: Short rib-polydactyly syndrome, Majewski type

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NEK1	TTO5QT2	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DYNC2H1	OTLC8K6B	Supportive	Autosomal recessive	[1]
NEK1	OTBUCUW6	Supportive	Autosomal recessive	[1]
TRAF3IP1	OTLCC64B	Supportive	Autosomal recessive	[2]
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References

1	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.
2	Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.