Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chromosome 1q21.1 deletion syndrome
go back to main search page
Accession:DOID:0060411 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)
Synonyms:exact_synonym: 1q21.1 Deletion;   1q21.1 Microdeletion;   1q21.1 contiguous gene deletion;   1q21.1 microdeletion syndrome;   chromosome 1q21.1 deletion syndrome, 1.35-Mb
 related_synonym: monosomy 1q21.1
 primary_id: MESH:C567291
 alt_id: OMIM:612474
 xref: GARD:10813;   ORDO:250989
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      chromosomal deletion syndrome 1004
        chromosome 1q21.1 deletion syndrome 8
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1054
                    Macrocephaly 68
                      chromosome 1q21.1 deletion syndrome 8
paths to the root