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Human Disease and Mouse Model Detail
Human Disease

Term: Congenital Disorder of Glycosylation, Type IA; CDG1A
OMIM ID: 212065

Synonyms Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly; Cdg IA; CDGIA; Jaeken Syndrome; Phosphomannomutase 2 Deficiency
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Pmm2 PMM2
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory