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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:Limb pain
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Accession:HP:0009763 term browser browse the term
Definition:Chronic pain in the limbs with no clear focal etiology.
Synonyms:related_synonym: Pain in extremities
 xref: SNOMEDCT_US:90834002;   UMLS:C0030196


show annotations for term's descendants           Sort by:
Limb pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP HPO ORPHA:36386 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP HPO ORPHA:36386 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP ClinVar Annotator: match by term: Limb pain ClinVar PMID:8533761 PMID:8845168 PMID:10737121 PMID:12163078 PMID:20301529 More... NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:18414213 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO OMIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:25741868 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:36386 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO ORPHA:36386 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:131300 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:192315 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Ankle pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:132400 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
Foot pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79400 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79400 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
Hand pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:619161 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
Knee pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:100998 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:166011 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO OMIM:614135 ORPHA:166002 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO OMIM:600204 ORPHA:166002 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 ORPHA:166002 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO OMIM:250400 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO OMIM:167100 OMIM:614441 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Lower limb pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447753 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP HPO ORPHA:401785 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:447753 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346 		JBrowse link
G HEPHL1 hephaestin like 1 IAGP HPO OMIM:261990 NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO ORPHA:199354 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT17 keratin 17 IAGP HPO ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842 		JBrowse link
G KRT6A keratin 6A IAGP HPO ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257 		JBrowse link
G KRT6B keratin 6B IAGP HPO ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO OMIM:617018 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:1349 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: Lower limb pain ClinVar PMID:9027924 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 More... NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO OMIM:616491 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP HPO OMIM:611762 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403 		JBrowse link
G PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Lower limb pain ClinVar PMID:9027924 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 More... NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO OMIM:612067 ORPHA:210571 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:131300 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
Upper limb pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79400 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79400 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
Wrist pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormal musculoskeletal physiology 1763
          Limb pain 63
            Lower limb pain + 42
            Upper limb pain + 9
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal musculoskeletal physiology 1763
            Limb pain 63
              Lower limb pain + 42
              Upper limb pain + 9
paths to the root