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
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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 ; NCI:C187985 ; NCI:C4337
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AK1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
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ARHGAP29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chr 1:96,835,259...96,910,999
Ensembl chr 1:95,561,933...95,640,214
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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BTK
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
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CCDC50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr 3:188,621,004...188,686,831
Ensembl chr 3:196,968,817...197,031,790
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CCND1
cyclin D1
ISO
mRNA:increased expression:bone marrow, peripheral blood (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22383795 PMID:24060591 PMID:26174628
RGD:11352827
NCBI chr11:64,737,006...64,750,353
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CD79B
CD79b molecule
treatment
ISO
protein:decreased expression:blood, B cell (human) human cells in mouse model
RGD
PMID:10329919 PMID:17374736
RGD:11531139 RGD:151665154
NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335
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CTNNB1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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EIF4E
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 4:91,268,463...91,329,800
Ensembl chr 4:101,941,142...101,994,809
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EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936
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GSK3B
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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MTOR
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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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 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
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TNFRSF10A
TNF receptor superfamily member 10a
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP:exon:626C>G, 1322A>G (human)
RGD
PMID:15531454 PMID:16217763
RGD:11038717 RGD:11038718
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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WNT10A
Wnt family member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
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