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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Ak1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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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 chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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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 chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Eif4e
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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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 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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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:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Tnfrsf10b
TNF 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 chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Wnt10a
Wnt family member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt3
Wnt family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099
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