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Gene : 105804841 Homo sapiens

Description  This locus represents a highly conserved functional element that is located in an intron of the limb development membrane protein 1 (LMBR1) gene. In the developing limb bud, this element functions as a long-range enhancer of the sonic hedgehog signaling molecule (SHH) gene, which is located approximately 1 Mb downstream. Mutations in this element disrupt limb patterning and can result in a range of congenital limb malformations, including preaxial polydactyly, triphalangeal thumbs, Werner mesomelic syndrome (WMS), polysyndactyly, or Laurin-Sandrow syndrome. [provided by RefSeq, Feb 2019]
  • identifiers:
  • 105804841

Genome feature

Region: gene ?
Location: No location information in HumanMine

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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