autosomal dominant intellectual developmental disorder

Summary
Synonym
  • autosomal dominant mental retardation
  • autosomal dominant non-syndromic mental retardation
Definition
A intellectual disability characterized by an autosomal dominant inheritance pattern.
Super Class
autosomal dominant disease intellectual disability
Disease Ontology
DOID:0060307
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
818 CAMK2G calcium/calmodulin dependent protein kinase II gamma
1173 AP2M1 adaptor related protein complex 2 subunit mu 1
2890 GRIA1 glutamate ionotropic receptor AMPA type subunit 1
3183 HNRNPC heterogeneous nuclear ribonucleoprotein C
6418 SET SET nuclear proto-oncogene
6874 TAF4 TATA-box binding protein associated factor 4
7204 TRIO trio Rho guanine nucleotide exchange factor
9757 KMT2B lysine methyltransferase 2B
9969 MED13 mediator complex subunit 13
11011 TLK2 tousled like kinase 2
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
11773 Ap2m1 adaptor-related protein complex 2, mu 1 subunit
12325 Camk2g calcium/calmodulin-dependent protein kinase II gamma
13385 Dlg4 discs large MAGUK scaffold protein 4
14799 Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1)
15381 Hnrnpc heterogeneous nuclear ribonucleoprotein C
30046 Zfp292 zinc finger protein 292
67972 Atp2b1 ATPase, Ca++ transporting, plasma membrane 1
75410 Kmt2b lysine (K)-specific methyltransferase 2B
75956 Srrm2 serine/arginine repetitive matrix 2
214895 Lman2l lectin, mannose-binding 2-like
Displaying 1 entry
Gene ID Gene Symbol Description Source
50592 Gria1 glutamate ionotropic receptor AMPA type subunit 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
32547 tay tay bridge
38742 GluRIA Glutamate receptor IA
39765 Taf4 TBP-associated factor 4
41737 trx trithorax
Displaying all 3 entries
Gene ID Gene Symbol Description Source
175999 glr-2 Glutamate receptor 2
176204 glr-1 Glutamate receptor 1
3565539 dip-2 AMP-dependent synthetase/ligase domain-containing protein;DMAP1-binding domain-containing protein
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851670 GIS1 histone demethylase GIS1
852053 SSN2 Ssn2p
854260 CMR2 Cmr2p

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024