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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:distal 10q deletion syndrome
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Accession:DOID:0060390 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO)
Synonyms:exact_synonym: Terminal Chromosome 10q26 Deletion Syndrome;   chromosome 10q26 deletion syndrome;   distal monosomy 10q;   monosomy 10qter;   telomeric deletion 10q
 primary_id: MESH:C567182
 alt_id: OMIM:609625;   RDO:0015324
 xref: ORDO:96148
For additional species annotation, visit the Alliance of Genome Resources.



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distal 10q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam12 ADAM metallopeptidase domain 12 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
JBrowse link
G Adgra1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,629,744...194,673,254
Ensembl chr 1:194,629,726...194,672,550
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
JBrowse link
G Caly calcyon neuron-specific vesicular protein ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551
JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,319,025...190,334,648
Ensembl chr 1:190,319,026...190,334,648
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:188,524,512...188,577,500
Ensembl chr 1:188,524,512...188,577,500
JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
JBrowse link
G Dpysl4 dihydropyrimidinase-like 4 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,883,039...193,898,916
Ensembl chr 1:193,883,106...193,898,914
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Fank1 fibronectin type III and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:188,577,512...188,685,501
Ensembl chr 1:188,577,575...188,685,504
JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,222,151...190,225,526
Ensembl chr 1:190,222,703...190,226,433
JBrowse link
G Fuom fucose mutarotase ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,888,535...194,893,046
Ensembl chr 1:194,886,709...194,893,046
JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428
JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:189,697,856...189,753,194
Ensembl chr 1:189,697,878...189,752,922
JBrowse link
G Jakmip3 janus kinase and microtubule interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,753,134...193,881,105
Ensembl chr 1:193,811,513...193,881,104
JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,689,962...194,738,353
Ensembl chr 1:194,690,135...194,738,362
JBrowse link
G LOC100302465 hypothetical LOC100302465 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:189,059,744...189,293,353
Ensembl chr 1:189,059,746...189,293,435
JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,004,967...194,035,087
Ensembl chr 1:194,005,182...194,035,084
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mtg1 mitochondrial ribosome-associated GTPase 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,931,543...194,944,278
Ensembl chr 1:194,931,531...194,944,277
JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515
JBrowse link
G Nps neuropeptide S ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821
JBrowse link
G Paox polyamine oxidase ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,903,267...194,928,504
Ensembl chr 1:194,903,273...194,928,504
JBrowse link
G Ppp2r2d protein phosphatase 2, regulatory subunit B, delta ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,665,918...193,700,277
Ensembl chr 1:193,665,855...193,700,274
JBrowse link
G Prap1 proline-rich acidic protein 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,883,078...194,886,874
Ensembl chr 1:194,883,078...194,886,872
JBrowse link
G Ptpre protein tyrosine phosphatase, receptor type, E ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,344,331...190,494,815
Ensembl chr 1:190,344,401...190,489,534
JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958
JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,944,602...194,948,448
Ensembl chr 1:194,943,826...194,948,460
JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,900,718...193,981,723
Ensembl chr 1:193,900,718...193,981,723
JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
JBrowse link
G Tcerg1l transcription elongation regulator 1-like ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:193,012,937...193,201,860
Ensembl chr 1:193,012,937...193,200,913
JBrowse link
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
JBrowse link
G Utf1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,740,339...194,741,465
Ensembl chr 1:194,740,339...194,741,465
JBrowse link
G Ventx VENT homeobox ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr  X:86,483,893...86,484,900
Ensembl chr  X:86,483,893...86,484,954
JBrowse link
G Zfp511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Chromosome 10q26 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,817,697...194,822,102
Ensembl chr 1:194,817,697...194,822,102
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      chromosomal deletion syndrome 1016
        distal 10q deletion syndrome 41
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              developmental disorder of mental health 4434
                specific developmental disorder 3680
                  communication disorder 259
                    learning disability 128
                      distal 10q deletion syndrome 41
paths to the root