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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 17q12 deletion syndrome
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Accession:DOID:0060404 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)
Synonyms:exact_synonym: 17q12 microdeletion syndrome
 primary_id: OMIM:614527
 xref: GARD:13297;   ORDO:261265
For additional species annotation, visit the Alliance of Genome Resources.

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chromosome 17q12 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355 		JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,253,667...71,276,397
Ensembl chr10:71,253,598...71,277,277 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375 		JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,363,688...71,383,602
Ensembl chr10:71,363,688...71,383,602 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293 		JBrowse link
G LOC102552988 uncharacterized LOC102552988 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,462,168...71,493,312
Ensembl chr10:71,464,677...71,491,743 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533 		JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:85,257,876...85,269,806
Ensembl chr10:85,257,876...85,269,806 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437 		JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,278,698...71,357,791 JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:71,393,701...71,441,435
Ensembl chr10:71,393,692...71,441,389 		JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      chromosomal deletion syndrome 875
        chromosome 17q12 deletion syndrome 18
Path 2
Term Annotations click to browse term
  disease 16092
    Pathological Conditions, Signs and Symptoms 8759
      Pathologic Processes 6172
        Chromosome Aberrations 1732
          Aneuploidy 1015
            Monosomy 918
              Chromosome Deletion 918
                chromosomal deletion syndrome 875
                  chromosome 17q12 deletion syndrome 18
paths to the root