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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Multiple myeloma
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Accession:HP:0006775 term browser browse the term
Definition:A malignant plasma cell tumor growing within soft tissue or within the skeleton.
Synonyms:related_synonym: Kahler's disease;   Plasmocytoma
 xref: EFO:0001378;   SNOMEDCT_US:10639003;   SNOMEDCT_US:109989006;   SNOMEDCT_US:415112005;   SNOMEDCT_US:55921005;   UMLS:C0026764;   UMLS:C0032131


show annotations for term's descendants           Sort by:
Multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID4A AT-rich interaction domain 4A IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:58,298,555...58,373,876
Ensembl chr14:58,298,504...58,373,887 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G AURKA aurora kinase A IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:254500 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CRBN cereblon IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:3,149,633...3,179,717
Ensembl chr 3:3,144,628...3,179,727 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYLD-AS2 CYLD antisense RNA 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:50,783,859...50,803,345
Ensembl chr16:50,783,859...50,803,338
Ensembl chr16:50,783,859...50,803,338 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:72,752,169...72,781,900
Ensembl chr13:72,752,169...72,782,096 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:20,124,525...20,141,838
Ensembl chr  X:20,124,525...20,141,838 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit sexual_dimorphism IAGP DNA:SNP:exon 23:p.K751Q (rs1052559)(Human) RGD PMID:17131345 RGD:401827277 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230800 ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G H2AC16 H2A clustered histone 16 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:27,865,317...27,865,798
Ensembl chr 6:27,865,317...27,865,798 		JBrowse link
G H2AC17 H2A clustered histone 17 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:27,892,699...27,893,185
Ensembl chr 6:27,892,699...27,893,185 		JBrowse link
G H3C1 H3 clustered histone 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:26,020,451...26,020,958
Ensembl chr 6:26,020,451...26,020,958 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IL10 interleukin 10 IAGP DNA:SNP, polymorphisms:promoter:-1082G>A, RGD PMID:11307152 RGD:11041888 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1A interleukin 1 alpha IAGP DNA:SNP:promoter:-889C>T
DNA:SNP:promoter:-511C>T		 RGD PMID:17926179 PMID:25469832 RGD:11051973, RGD:11049156 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta IAGP DNA:SNPs:promoter, exon:-511C>T, 3954T>C RGD PMID:17926179 RGD:11051973 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:snp: :11100C>T RGD PMID:17926179 RGD:11051973 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL7R interleukin 7 receptor IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G KDM5C lysine demethylase 5C IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:15696205 PMID:17062680 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LIG4 DNA ligase 4 IAGP ClinVar Annotator: match by term: Kahler's disease
ClinVar Annotator: match by term: Multiple myeloma		 ClinVar
HPO		 PMID:11779494 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 More... MIM:254500 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LOC130063979 ATAC-STARR-seq lymphoblastoid silent region 10375 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:18,161,088...18,161,587 JBrowse link
G LOC130068308 ATAC-STARR-seq lymphoblastoid active region 29656 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:53,224,749...53,224,848 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MGA MAX dimerization protein MGA IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:41,621,224...41,769,940
Ensembl chr15:41,621,134...41,773,081 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,886,902...49,903,873 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:missense mutations:cds:677C>T, 1298A>C RGD PMID:24839819 RGD:10449397 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:124,324,415...124,567,612
Ensembl chr12:124,324,415...124,567,612 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 no_association IAGP DNA:missense mutation:cds:p.P187S
DNA:missense mutation:cds:p.P187S (609C>T) 		RGD PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G P2RY8 P2Y receptor family member 8 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:1,462,581...1,537,185
NCBI chr  Y:1,462,581...1,537,185
Ensembl chr  Y:1,462,581...1,537,185
Ensembl chr  X:1,462,581...1,537,185 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G POLR1G RNA polymerase I subunit G sexual_dimorphism IAGP DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chr19:45,406,644...45,410,737
Ensembl chr19:45,406,644...45,410,737 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,207...36,521,149
Ensembl chr14:36,473,207...36,521,149 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G TCF3 transcription factor 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar
HPO		 ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TET2-AS1 TET2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:105,171,354...105,352,881
Ensembl chr 4:105,171,354...105,353,011 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177 		JBrowse link
G TNF tumor necrosis factor no_association
treatment		 IAGP DNA:SNP:promoter:-308G>A
DNA:SNP:promoter:-238G>A		 RGD PMID:12815949 PMID:12200397 RGD:10449453, RGD:10449450 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 disease_progression IAGP DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of blood and blood-forming tissues 3783
        Hematological neoplasm 1404
          Multiple myeloma 167
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Neoplasm 6202
        Neoplasm by anatomical site 6146
          Hematological neoplasm 1404
            Multiple myeloma 167
paths to the root