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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:Neoplasm of striated muscle
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Accession:HP:0009728 term browser browse the term
Definition:A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.
Synonyms:exact_synonym: Tumors of striated muscle;   Tumours of striated muscle
 xref: NCI:C3262;   UMLS:C4021396


show annotations for term's descendants           Sort by:
Alveolar rhabdomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III IAGP HPO ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G FOXO1 forkhead box O1 IAGP HPO MIM:268220 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G LOC126806529 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:25741868 NCBI chr 2:222,220,016...222,221,215 JBrowse link
G PAX3 paired box 3 IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar
HPO		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... MIM:268220 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PAX7 paired box 7 IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar
HPO		 PMID:25741868 PMID:31092906 PMID:32214227 MIM:268220 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866 		JBrowse link
Cardiac rhabdomyoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SOX6 SRY-box transcription factor 6 IAGP HPO MIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Cardiac rhabdomyoma ClinVar
HPO		 PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 More... MIM:191100 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Embryonal rhabdomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO MIM:180295 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26619011 PMID:26822237 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP HPO MIM:268210 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Rhabdomyoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 IAGP HPO MIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
Rhabdomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:22184391 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar
HPO		 PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... MIM:601200 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19809159 PMID:24124571 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma HPO
ClinVar		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... MIM:218040 ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar
HPO		 PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 More... MIM:162200 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 More... NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar
HPO		 PMID:33372952 ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More... NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More... NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar
HPO		 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More... ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Neoplasm 15251
        Neoplasm by anatomical site 15044
          Neoplasm of striated muscle 40
            Rhabdomyoma + 5
            Rhabdomyosarcoma + 36
paths to the root