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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:Arthralgia
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Accession:HP:0002829 term browser browse the term
Definition:Joint pain.
Comment:Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis.
Synonyms:exact_synonym: Arthralgias;   Joint pain
 related_synonym: Arthritic pain;   JOINT PAINS
 xref: SNOMEDCT_US:57676002;   UMLS:C0003862


show annotations for term's descendants           Sort by:
Arthralgia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:2882 ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:210250 ORPHA:2882 ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO MIM:228600 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G AP1S3 adaptor related protein complex 1 subunit sigma 3 IAGP HPO ORPHA:247353 NCBI chr 2:223,755,326...223,837,582
Ensembl chr 2:223,667,680...223,838,027 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:873 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOB apolipoprotein B IAGP HPO ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO MIM:228000 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASPN asporin IAGP HPO MIM:607850 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP HPO ORPHA:251380 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO MIM:620121 ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G C1QB complement C1q B chain IAGP HPO MIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637 		JBrowse link
G C1R complement C1r IAGP HPO MIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1S complement C1s IAGP HPO MIM:617174 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD19 CD19 molecule IAGP HPO ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CD244 CD244 molecule IAGP HPO MIM:180300 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CD81 CD81 molecule IAGP HPO MIM:613496 ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO MIM:618167 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO MIM:180300 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:184840 MIM:215150 ORPHA:166100 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		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 MIM:108300 MIM:183900 MIM:604864 MIM:609162 MIM:616583 ORPHA:166100 ORPHA:2380 ORPHA:90653 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 ClinVar Annotator: match by term: Arthralgias HPO
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28914264 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 COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO MIM:614135 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G COPA COPI coat complex subunit alpha IAGP HPO MIM:616414 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:873 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO MIM:615539 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPOR erythropoietin receptor IAGP HPO ORPHA:90042 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:254704 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO MIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO MIM:300942 ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 ORPHA:251380 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP HPO ORPHA:251380 NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857 		JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP HPO ORPHA:251380 NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:29207 ORPHA:3287 ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO MIM:212750 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO MIM:212750 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220393 ORPHA:397 ORPHA:85414 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO MIM:259100 ORPHA:1525 ORPHA:217059 ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IL10 interleukin 10 IAGP HPO MIM:180300 ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO MIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO ORPHA:247353 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:1572 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		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 KLF1 KLF transcription factor 1 IAGP HPO ORPHA:251380 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200 		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 LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:90153 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMNB2 lamin B2 IAGP HPO ORPHA:79087 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LPIN2 lipin 2 IAGP HPO MIM:609628 ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO MIM: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 MIM:607078 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO MIM:134610 MIM:249100 MIM:608068 ORPHA:117 ORPHA:3243 ORPHA:329967 ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:2398 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO ORPHA:1572 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 IAGP HPO MIM:616834 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164 		JBrowse link
G MVK mevalonate kinase IAGP HPO MIM:260920 MIM:610377 ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO ORPHA:1572 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:1572 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP HPO MIM:180300 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO MIM:616050 MIM:616115 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP HPO MIM:611762 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,792,139...53,824,403 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO MIM:120100 MIM:191900 MIM:617772 ORPHA:1451 ORPHA:47045 ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:617321 ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP HPO MIM:617099 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO MIM:307800 ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO MIM:615399 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO MIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO MIM:614878 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
G POMP proteasome maturation protein IAGP HPO MIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959 		JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO MIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO MIM:617591 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO MIM:180300 ORPHA:397 ORPHA:85408 ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		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
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO MIM:263800 ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP HPO MIM:180300 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:226900 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO MIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:607616 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SOST sclerostin IAGP HPO MIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 ORPHA:85408 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO MIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO MIM:301080 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO ORPHA:1572 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO ORPHA:1572 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO MIM:142680 ORPHA:32960 ORPHA:329967 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP HPO ORPHA:1572 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890 		JBrowse link
G TNXB tenascin XB IAGP HPO MIM:606408 ORPHA:230839 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO MIM:313400 ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO MIM:618193 ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:610448 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Arthralgia ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301054 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO MIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329475 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Arthralgias ClinVar PMID:24449199 PMID:28492532 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621 		JBrowse link
Arthralgia/arthritis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:2882 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO ORPHA:2882 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G CD209 CD209 molecule IAGP DNA:SNP:promoter:-336A>G SNP (rs4804803) (human) RGD PMID:24797508 RGD:39939060 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Constitutional symptom 1422
        Pain 898
          Arthralgia 208
            Arthralgia/arthritis 3
paths to the root