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 5, Trisomy 5q
Accession: DOID:9008063
browse the term
Synonyms: exact_synonym: 5Q35 MICRODUPLICATION SYNDROME; Duplication 5q; Trisomy 5q
primary_id: MESH:C537650 ; RDO:0003527
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Cdhr2
cadherin-related family member 2
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,881,979...9,917,698
Ensembl chr17:9,876,860...9,912,575
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Eif4e1b
eukaryotic translation initiation factor 4E family member 1B
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,835,883...9,868,781
Ensembl chr17:9,832,230...9,835,137
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Faf2
Fas associated factor family member 2
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,952,329...9,994,596
Ensembl chr17:9,947,220...9,989,485
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Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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Gprin1
G protein-regulated inducer of neurite outgrowth 1
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,869,009...9,881,958
Ensembl chr17:9,863,571...9,876,915
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Hk3
hexokinase 3
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,602,119...9,620,038
Ensembl chr17:9,599,865...9,614,863
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Lman2
lectin, mannose-binding 2
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,274,362...9,294,950
Ensembl chr17:9,269,022...9,287,265
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Mxd3
Max dimerization protein 3
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,306,552...9,310,278
Ensembl chr17:9,301,399...9,305,157
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,315,237...9,425,358
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Prelid1
PRELI domain containing 1
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,310,471...9,313,511
Ensembl chr17:9,305,361...9,308,407
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Rab24
RAB24, member RAS oncogene family
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,313,593...9,315,675
Ensembl chr17:9,308,525...9,310,553
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Rgs14
regulator of G-protein signaling 14
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,254,112...9,268,233
Ensembl chr17:9,249,019...9,263,104
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Rnf44
ring finger protein 44
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,925,100...9,939,496
Ensembl chr17:9,919,993...9,932,193
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Sncb
synuclein, beta
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012
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Tspan17
tetraspanin 17
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,824,353...9,831,985
Ensembl chr17:9,819,202...9,826,834
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Uimc1
ubiquitin interaction motif containing 1
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,528,923...9,597,967
Ensembl chr17:9,527,794...9,592,799
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Unc5a
unc-5 netrin receptor A
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,620,005...9,675,794
Ensembl chr17:9,614,838...9,670,526
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Zfp346
zinc finger protein 346
ISO
ClinVar Annotator: match by term: 5q35 microduplication syndrome
ClinVar
PMID:31690835
NCBI chr17:9,498,933...9,528,824
Ensembl chr17:9,493,803...9,523,635
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