General Information of Disease (ID: DIS9R2ZC)

Disease Name Microcephaly 19, primary, autosomal recessive
Synonyms primary autosomal recessive microcephaly 19; microcephaly 19, PRIMARY, autosomal recessive; MCPH19
Disease Hierarchy
DIS29IE3: Autosomal recessive primary microcephaly
DIS9R2ZC: Microcephaly 19, primary, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0054716
UMLS CUI
C4540488
OMIM ID
617800
MedGen ID
1616860

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COPB2 OT82JIGC Limited Unknown [1]
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References

1 Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint. Genomics. 1999 Apr 1;57(1):70-8. doi: 10.1006/geno.1999.5747.