autosomal dominant intellectual developmental disorder 42

Summary
Synonym
  • MRD42
  • autosomal dominant mental retardation 42
  • autosomal dominant non-syndromic intellectual disability 42
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070072
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2782 GNB1 G protein subunit beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14688 Gnb1 guanine nucleotide binding protein (G protein), beta 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024