Term: | Joint swelling |
|
Accession: | HP:0001386
|
browse the term
|
Synonyms: | xref: | SNOMEDCT_US:271771009; UMLS:C0152031 |
|
|
|
G |
ACP5 |
acid phosphatase 5, tartrate resistant |
|
IAGP |
|
HPO |
|
OMIM:607944 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
|
|
G |
ADRB3 |
adrenoceptor beta 3 |
|
IAGP |
DNA:missense mutation:cds:p.W64R (rs4994) |
RGD |
PMID:12739037 |
RGD:5684893 |
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
|
|
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
|
|
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
|
|
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
|
|
G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
|
IAGP |
|
HPO |
|
OMIM:228000 ORPHA:333 |
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
|
|
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
|
|
G |
BMP6 |
bone morphogenetic protein 6 |
|
IAGP |
|
HPO |
|
ORPHA:465508 |
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
|
|
G |
BTNL2 |
butyrophilin like 2 |
|
IAGP |
|
HPO |
|
ORPHA:797 |
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
|
|
G |
CCN6 |
cellular communication network factor 6 |
|
IAGP |
|
HPO |
|
OMIM:208230 ORPHA:1159 |
NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
|
|
G |
CD244 |
CD244 molecule |
|
IAGP |
|
HPO |
|
OMIM:180300 |
NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887
|
|
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
|
|
G |
CHEK2 |
checkpoint kinase 2 |
|
IAGP |
|
HPO |
|
ORPHA:668 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
|
|
G |
CIITA |
class II major histocompatibility complex transactivator |
|
IAGP |
|
HPO |
|
OMIM:180300 |
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
|
|
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
|
|
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
|
|
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
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
|
IAGP |
|
HPO |
|
OMIM:618175 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
|
|
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
|
|
G |
FGA |
fibrinogen alpha chain |
|
IAGP |
|
HPO |
|
ORPHA:98880 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
|
|
G |
FGB |
fibrinogen beta chain |
|
IAGP |
|
HPO |
|
ORPHA:98880 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
|
|
G |
FGG |
fibrinogen gamma chain |
|
IAGP |
|
HPO |
|
ORPHA:98880 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
|
|
G |
GNB2 |
G protein subunit beta 2 |
|
IAGP |
|
HPO |
|
OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
|
|
G |
GPR101 |
G protein-coupled receptor 101 |
|
IAGP |
|
HPO |
|
ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
|
|
G |
HFE |
homeostatic iron regulator |
|
IAGP |
|
HPO |
|
ORPHA:465508 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
|
|
G |
HGD |
homogentisate 1,2-dioxygenase |
|
IAGP |
|
HPO |
|
ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
|
|
G |
HLA-B |
major histocompatibility complex, class I, B |
|
IAGP |
DNA:polymorphisms:cds:multiple |
HPO RGD |
PMID:10648455 |
ORPHA:29207, RGD:7364930 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
|
|
G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
|
IAGP |
|
HPO |
|
ORPHA:797 ORPHA:85414 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
|
|
G |
HPGD |
15-hydroxyprostaglandin dehydrogenase |
|
IAGP |
|
HPO |
|
ORPHA:1525 ORPHA:2796 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
|
|
G |
IL10 |
interleukin 10 |
|
IAGP |
|
HPO |
|
OMIM:180300 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
|
|
G |
IL1RN |
interleukin 1 receptor antagonist |
|
IAGP |
|
HPO |
|
OMIM:612852 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
LPIN2 |
lipin 2 |
|
IAGP |
|
HPO |
|
OMIM:609628 |
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
|
|
G |
MBD4 |
methyl-CpG binding domain 4, DNA glycosylase |
no_association |
IAGP |
DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) |
RGD |
PMID:20676650 PMID:22505706 |
RGD:9588977, RGD:9588978 |
NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
|
|
G |
MEFV |
MEFV innate immunity regulator, pyrin |
|
IAGP |
|
HPO |
|
ORPHA:329967 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
|
|
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
|
|
G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
IAGP |
DNA:missense mutations:cds:multiple |
RGD |
PMID:15987486 |
RGD:5490238 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
|
|
G |
NFKBIL1 |
NFKB inhibitor like 1 |
|
IAGP |
DNA:snp:promoter:c.-132T>A (rs2071592) |
HPO RGD |
PMID:12509789 |
OMIM:180300, RGD:1331681 |
NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829
|
|
G |
NOD2 |
nucleotide binding oligomerization domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:186580 ORPHA:90340 |
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
|
|
G |
OCRL |
OCRL inositol polyphosphate-5-phosphatase |
|
IAGP |
|
HPO |
|
ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
|
|
G |
OTULIN |
OTU deubiquitinase with linear linkage specificity |
|
IAGP |
|
HPO |
|
OMIM:617099 |
NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
|
|
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
|
|
G |
PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
|
IAGP |
|
HPO |
|
OMIM:180300 ORPHA:85408 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
IAGP |
|
HPO |
|
ORPHA:668 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
|
|
G |
SLC22A4 |
solute carrier family 22 member 4 |
|
IAGP |
|
HPO |
|
OMIM:180300 |
NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190
|
|
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
|
|
G |
STAT4 |
signal transducer and activator of transcription 4 |
|
IAGP |
|
HPO |
|
ORPHA:85408 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
|
|
G |
SYK |
spleen associated tyrosine kinase |
|
IAGP |
ClinVar Annotator: match by term: Joint swelling |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:33782605 |
OMIM:619381 |
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
|
|
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
|
|
G |
TNFRSF1A |
TNF receptor superfamily member 1A |
|
IAGP |
|
HPO |
|
ORPHA:329967 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
|
|
G |
TP53 |
tumor protein p53 |
|
IAGP |
|
HPO |
|
ORPHA:668 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
|
|
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
|
|
Term paths to the root
|