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: desmoplastic/nodular medulloblastoma
Accession: DOID:3873
browse the term
Definition: A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. (DO)
Synonyms: exact_synonym: nodular medulloblastoma
xref: NCI:C4956 ; NCI:C5407
For additional species annotation, visit the
Alliance of Genome Resources .
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Actr1a
actin related protein 1A
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:26580448
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arl3
ADP ribosylation factor like GTPase 3
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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As3mt
arsenite methyltransferase
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
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Atp5mk
ATP synthase membrane subunit K
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761 Ensembl chr10:245,973,914...245,980,761
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Borcs7
BLOC-1 related complex subunit 7
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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C1h10orf95
similar to human chromosome 10 open reading frame 95
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,210,228...245,212,080
Ensembl chr 1:245,210,973...245,211,602
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Calhm1
calcium homeostasis modulator 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988
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Calhm2
calcium homeostasis modulator family member 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,022,324...246,028,050
Ensembl chr 1:246,022,324...246,028,218
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Calhm3
calcium homeostasis modulator 3
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,043,258...246,048,259
Ensembl chr 1:246,043,258...246,048,259
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Cfap43
cilia and flagella associated protein 43
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443
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Cfap58
cilia and flagella associated protein 58
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
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Cnnm2
cyclin and CBS domain divalent metal cation transport mediator 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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Col17a1
collagen type XVII alpha 1 chain
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
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Ctcf
CCCTC-binding factor
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Gsto1
glutathione S-transferase omega 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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Gsto2
glutathione S-transferase omega 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
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Ina
internexin neuronal intermediate filament protein, alpha
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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Itprip
inositol 1,4,5-trisphosphate receptor interacting protein
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,762,804...246,786,379
Ensembl chr 1:246,762,472...246,786,408
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Mfsd13a
major facilitator superfamily domain containing 13A
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,216,610...245,236,314
Ensembl chr 1:245,217,067...245,236,767
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Neurl1
neuralized E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903
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Nt5c2
5'-nucleotidase, cytosolic II
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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Pcgf6
polycomb group ring finger 6
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914
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Pdcd11
programmed cell death 11
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999
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Sfr1
SWI5-dependent homologous recombination repair protein 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,619,235...246,623,250
Ensembl chr 1:246,597,044...246,623,250
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Sfxn2
sideroflexin 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411 Ensembl chr 1:245,447,015...245,468,411
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Sh3pxd2a
SH3 and PX domains 2A
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166
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Slk
STE20-like kinase
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,473,712...246,529,643
Ensembl chr 1:246,473,712...246,526,530
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Sorcs3
sortilin-related VPS10 domain containing receptor 3
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:247,099,178...247,734,027
Ensembl chr 1:247,099,408...247,734,027
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Stn1
STN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Taf5
TATA-box binding protein associated factor 5
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,958,428...245,973,914
Ensembl chr 1:245,958,428...245,973,914
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Trim8
tripartite motif-containing 8
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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Wbp1l
WW domain binding protein 1-like
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
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