Details of Disease | DrugMAP

General Information of Disease (ID: DISHXTV4)

Disease Name	Arthrogryposis, distal, type 1B
Synonyms	DA1B; arthrogryposis, distal, type 1B
Disease Hierarchy	DISOW5Q1: Digitotalar dysmorphism DISHXTV4: Arthrogryposis, distal, type 1B
Disease Identifiers	MONDO ID MONDO_0013698 UMLS CUI C3280526 OMIM ID 614335 MedGen ID 482156

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNNI2	OTGGZFSC	moderate	Biomarker	[1]
MYBPC1	OTRPN93S	Strong	Autosomal dominant	[2]
FBN2	OT3KYJQL	Definitive	Biomarker	[3]
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References

1	A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.PLoS Genet. 2014 Oct 23;10(10):e1004589. doi: 10.1371/journal.pgen.1004589. eCollection 2014 Oct.
2	Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.
3	ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.PLoS One. 2010 Feb 9;5(2):e9137. doi: 10.1371/journal.pone.0009137.