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: mantle cell lymphoma
Accession: DOID:0050746
browse the term
Definition: A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO)
Synonyms: exact_synonym: Centrocytic Small-Cell Lymphoma; Diffuse Lymphocytic Lymphoma, Poorly Differentiated; Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated; Lymphoma, Lymphocytic, Intermediate; Mantle Cell Lymphoma, Somatic; Mantle Zone Lymphoma; Mantle-Cell Lymphomas; centrocytic small-cell lymphomas; mantle-zone lymphomas
narrow_synonym: Gastric Mantle Cell Lymphoma; Splenic Mantle Cell Lymphoma
primary_id: MESH:D020522
xref: EFO:1000272 ; EFO:1000549 ; EFO:1001469 ; GARD:6969 ; ICDO:9673/3; NCI:C187985 ; NCI:C4337
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Ak1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070
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Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chr 3:121,746,752...121,810,326
Ensembl chr 3:121,746,190...121,810,402
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Btk
Bruton agammaglobulinemia tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow, peripheral blood (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22383795 PMID:26174628 PMID:24060591
RGD:11352827
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cd79b
CD79B antigen
treatment
ISO
protein:decreased expression:blood, B cell (human) human cells in mouse model
RGD
PMID:10329919 PMID:17374736
RGD:11531139 , RGD:151665154
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Eif4e
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 3:138,231,952...138,265,457
Ensembl chr 3:138,231,940...138,265,457
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 8:27,750,355...27,765,684
Ensembl chr 8:27,750,357...27,766,702
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP:exon:626C>G, 1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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Wnt10a
wingless-type MMTV integration site family, member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
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Wnt3
wingless-type MMTV integration site family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr11:103,665,000...103,708,854
Ensembl chr11:103,664,976...103,708,783
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