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Human Disease and Mouse Model Detail
Human Disease Spinal Muscular Atrophy, X-Linked 2; SMAX2
OMIM ID: 301830
Human Phenotype Ontology associations
Synonyms AMC, Distal, X-Linked; Arthrogryposis Multiplex Congenita, Distal, X-Linked; Arthrogryposis, X-Linked, Type I; AMCX1; Spinal Muscular Atrophy; Spinal Muscular Atrophy, Infantile X-Linked; XLSMA; Spinal Muscular Atrophy, X-Linked Lethal Infantile
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     UBA1* Uba1   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory