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
Accession: DOID:0060404
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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