Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Autoimmune antibody positivity
go back to main search page
Accession:HP:0030057 term browser browse the term
Definition:The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Synonyms:xref: UMLS:C4022660



show annotations for term's descendants           Sort by:
Autoimmune antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:552 ORPHA:79134 ORPHA:99885 ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G CALR calreticulin IAGP HPO ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
JBrowse link
G CFHR1 complement factor H related 1 susceptibility IAGP associated with Atypical Hemolytic Uremic Syndrome;DNA:deletion: : RGD PMID:23243267 RGD:11041162 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP HPO ORPHA:264675 NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  Y:1,268,800...1,310,381
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP HPO ORPHA:264675 NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:140300 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutations: : RGD PMID:25218284 RGD:40902959 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G ESR2 estrogen receptor 2 susceptibility IAGP DNA:snp:intron:IVS8G>A (rs4986938) RGD PMID:17941906 RGD:8693348 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FADD Fas associated via death domain IAGP HPO ORPHA:306550 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:98818 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-B8 RGD PMID:8096501 RGD:7365112 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*03, HLA-DQA1*0401 RGD PMID:16254435 RGD:5147646 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 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0402
DNA:polymorphisms:cds:HLA-DQB1*0401
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302
RGD PMID:21908482 PMID:16254435 PMID:8157715 RGD:7421588, RGD:5147646, RGD:7483569 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 susceptibility IAGP DNA:polymorphisms
DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802
HPO
RGD
PMID:21816777 PMID:16254435 ORPHA:747, RGD:5147553, RGD:5147646 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:88 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G INS insulin IAGP DNA:SNP:promoter:-23A>T (rs689) HPO
RGD
PMID:19188433 ORPHA:552 ORPHA:99885, RGD:150340609 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 ORPHA:79134 ORPHA:99885 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G KIR2DL2 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 onset IAGP DNA:deletion: RGD PMID:26890333 RGD:25671443
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:79134 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194
JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:88 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:88 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:88 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:88 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:824 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:424 ORPHA:90673 ORPHA:99819 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO OMIM:301054 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155
JBrowse link
Anti-acetylcholine receptor antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO OMIM:616227 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO OMIM:254210 ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:601462 OMIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO OMIM:616313 OMIM:616314 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:616323 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO OMIM:616324 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO OMIM:603034 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
JBrowse link
G DOK7 docking protein 7 IAGP HPO OMIM:254300 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PREPL prolyl endopeptidase like IAGP HPO OMIM:616224 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO OMIM:616326 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:614198 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
Anti-aquaporin 4 antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR7 toll like receptor 7 IAGP HPO OMIM:301080 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
Anti-beta-2-Glycoprotein I IgG antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMP proteasome maturation protein IAGP HPO OMIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
Anti-BP180 antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:703 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:703 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
Anti-BP230 antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:703 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:703 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
Anti-centromere antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL2 interleukin 2 susceptibility IAGP associated with Scleroderma, Systemic;DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association IAGP DNA:SNP:intron: (rs7574865) RGD PMID:19286670 RGD:8661714 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
Anti-citrullinated protein antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP HPO OMIM:180300 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:180300 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
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
JBrowse link
Anti-dsDNA antibody positivity term browser
Symbol Object Name Qualifiers 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 DNASE1L3 deoxyribonuclease 1 like 3 IAGP HPO OMIM:614420 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO OMIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
Anti-GAD65 antibody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT10A tRNA methyltransferase 10A IAGP HPO OMIM:616033 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
JBrowse link
Anti-glutamic acid decarboxylase antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUT deoxyuridine triphosphatase IAGP HPO OMIM:620044 NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373
JBrowse link
G FOXP3 forkhead box P3 IAGP HPO OMIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO OMIM:610582 OMIM:616329 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
Anti-granulocyte-macrophage colony stimulating factor antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP HPO OMIM:614370 NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
Anti-islet antigen-2 antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO OMIM:616192 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988
JBrowse link
G DUT deoxyuridine triphosphatase IAGP HPO OMIM:620044 NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373
JBrowse link
Anti-La/SS-B antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 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:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0101, HLA-DQA1*0501 RGD PMID:11555411 RGD:5147809 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB1*0301 HPO
RGD
PMID:11555411 ORPHA:536, RGD:5147809 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association IAGP DNA:SNP:intron: (rs7574865) HPO
RGD
PMID:20360187 ORPHA:536, RGD:8661709 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
Anti-liver cytosolic antigen type 1 antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
Anti-mitochondrial M2 antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP DNA:SNPs, haplotypes:multiple RGD PMID:24648611 RGD:25671415 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
Anti-myeloperoxidase antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:91414 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
Anti-platelet antigen antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
Anti-Sm antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G C1QB complement C1q B chain IAGP HPO OMIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 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:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
Anti-smooth muscle antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A5 collagen type IV alpha 5 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545
JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
Anti-thyroglobulin antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD10 caspase recruitment domain family member 10 IAGP HPO OMIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO OMIM:615577 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G POMP proteasome maturation protein IAGP HPO OMIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO OMIM:618534 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:609152 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
Anti-thyroid peroxidase antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO ORPHA:277 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO OMIM:615577 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G POMP proteasome maturation protein IAGP HPO OMIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO OMIM:618534 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SH2B3 SH2B adaptor protein 3 susceptibility IAGP DNA:missense mutation:exon: (rs3184504) RGD PMID:21829393 RGD:153297780 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:609152 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
Anti-thyroid-stimulating hormone receptor antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THRB thyroid hormone receptor beta IAGP HPO OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
Anti-topoisomerase I antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:missense mutation:cds:p.F196S (rs1059702) RGD PMID:21898345 RGD:7495782 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
IAGP DNA:SNPs:introns: (rs3821236, rs7574865, rs10168266)
DNA:SNP:intron: (rs7574865)
RGD PMID:23755762 PMID:19286670 RGD:8661701, RGD:8661714 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
Anti-U1 ribonucleoprotein antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 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:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO OMIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
Anticardiolipin IgG antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO OMIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
Antimitochondrial antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD247 CD247 molecule IAGP HPO OMIM:610163 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
Antineutrophil antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 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:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:464370 ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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 SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO ORPHA:486 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR8 toll like receptor 8 IAGP HPO OMIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
Antinuclear antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO OMIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G C1QB complement C1q B chain IAGP HPO OMIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G C1QC complement C1q C chain IAGP HPO OMIM:620322 NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO OMIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542
JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 ORPHA:85410 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
JBrowse link
G COPA COPI coat complex subunit alpha IAGP HPO OMIM: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:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G DNASE1L3 deoxyribonuclease 1 like 3 IAGP HPO OMIM:614420 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:152700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR2B Fc gamma receptor IIb susceptibility IAGP DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A
DNA:snp:promoter:g.-386G>C (rs3219018)
HPO
RGD
PMID:15153543 PMID:15895258 OMIM:152700 ORPHA:536, RGD:1547879, RGD:1547880 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DPB1*04:05 RGD PMID:30093645 RGD:150429797 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 RGD PMID:8468491 RGD:7483566 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:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 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:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:polymorphism:exon:g.14709C>T (rs315952) RGD PMID:17176440 RGD:6907356 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 ORPHA:85410 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 ORPHA:85410 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO OMIM:618795 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 OMIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LTA lymphotoxin alpha susceptibility
no_association
IAGP DNA:SNP, haplotype:intron: (rs909253)
DNA:SNPs:multiple
RGD PMID:22294627 PMID:22294627 RGD:8548787, RGD:8548787 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO OMIM: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 OMIM:613495 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO OMIM:617388 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO OMIM:614468 NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
JBrowse link
G POMP proteasome maturation protein IAGP HPO OMIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 ORPHA:85410 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 OMIM:152700 ORPHA:536 ORPHA:85408 ORPHA:85410 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO OMIM:618534 ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO OMIM:618852 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
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 SLC7A7 solute carrier family 7 member 7 IAGP HPO ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO OMIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
IAGP DNA:SNP:intron: (rs3821236)
DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human)
DNA:SNPs, haplotypes:multiple
DNA:SNP:intron: (rs7574865)
DNA:SNP:introns: (rs7574865, rs10168266)
HPO
RGD
PMID:23755762 PMID:28977835 PMID:23990947 PMID:24648611 PMID:18273036 More... ORPHA:536 ORPHA:85408 ORPHA:85410 ORPHA:93552, RGD:8661701, RGD:25671419, RGD:25671418, RGD:25671415, RGD:8661708, RGD:8661701 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO OMIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TLR7 toll like receptor 7 IAGP HPO OMIM:301080 ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO OMIM:616744 ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:152700 OMIM:610448 ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034
JBrowse link
Antiphospholipid antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO OMIM:182410 ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:152700 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO OMIM:152700 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:152700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO OMIM:152700 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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 PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:152700 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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 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 STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO OMIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:152700 OMIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Cytoplasmic antineutrophil antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO OMIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
Extractable nuclear antigen positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QB complement C1q B chain IAGP HPO OMIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
Insulin receptor antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
Lupus anticoagulant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO OMIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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 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 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 STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO OMIM:616744 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
Perinuclear antineutrophil antibody positivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO OMIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
G BACH2 BTB domain and CNC homolog 2 IAGP HPO OMIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO OMIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
JBrowse link
G DNASE1L3 deoxyribonuclease 1 like 3 IAGP HPO OMIM:614420 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:60 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
Platelet antibody positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 IAGP HPO OMIM:603909 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO OMIM:601859 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO OMIM:601859 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G IL10 interleukin 10 disease_progression IAGP DNA:SNP:promoter:-627C>A RGD PMID:25051072 RGD:11041894 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL4 interleukin 4 disease_progression IAGP DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
Positive direct antiglobulin test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHAG Rh associated glycoprotein IAGP HPO ORPHA:71275 NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839
JBrowse link
G RHCE Rh blood group CcEe antigens IAGP HPO ORPHA:71275 NCBI chr 1:25,362,249...25,430,203
Ensembl chr 1:25,362,249...25,430,192
JBrowse link
G RHD Rh blood group D antigen IAGP HPO ORPHA:71275 NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445
JBrowse link
Rheumatoid factor positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G C1QB complement C1q B chain IAGP HPO OMIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO OMIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542
JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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 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
JBrowse link
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
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP DNA:CNVs RGD PMID:25154742 RGD:11344974 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO OMIM:106300 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO OMIM:209950 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO OMIM:615816 ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:missense mutation:cds:p.R620W (rs2476601) (human) HPO
RGD
PMID:15208781 OMIM:180300, RGD:6484535 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO OMIM:618852 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
JBrowse link
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
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO OMIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of the immune system 2692
        Abnormality of immune system physiology 2263
          Autoimmunity 324
            Autoimmune antibody positivity 181
              Anti-21-hydroxylase antibody positivity 0
              Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity 0
              Anti-AK5 antibody positivity 0
              Anti-AMPAR antibody positivity 0
              Anti-ARHGAP26 antibody 0
              Anti-Amphiphysin antibody 0
              Anti-B23 antibody positivity 0
              Anti-BP180 antibody positivity 2
              Anti-BP230 antibody positivity 2
              Anti-CARP VIII antibody 0
              Anti-CASPR2 0
              Anti-CV2/CRMP5 antibody positivity 0
              Anti-Complement factor H antibody positivity 0
              Anti-D2 R antibody 0
              Anti-DPPX antibody 0
              Anti-FGFR3 antibody positivity 0
              Anti-GABA(A)R antibody 0
              Anti-GABA(B)R antibody 0
              Anti-GAD65 antibody 1
              Anti-GFAP antibody 0
              Anti-GW182 antibody positivity 0
              Anti-Gephyrin antibody 0
              Anti-Gerbich phenotype 1 antibody positivity 0
              Anti-GluK2 antibody 0
              Anti-GlyR antibody 0
              Anti-HLA antibody positivity + 0
              Anti-Homer-3 antibody 0
              Anti-Hu antibody positivity 0
              Anti-ITPR1 antibody 0
              Anti-Iglon5 antibody 0
              Anti-Kelch like protein 11 antibody positivity 0
              Anti-Kelch like protein 12 antibody positivity 0
              Anti-Ki antibody positivity 0
              Anti-Ku antibody positivity 0
              Anti-Kv1.4 antibody 0
              Anti-LABD97 antibody positivity 0
              Anti-LGI1 antibody 0
              Anti-Lrp4 antibody positivity 0
              Anti-MAP1B antibody 0
              Anti-MDA5 antibody positivity 0
              Anti-MIT3 antibody positivity 0
              Anti-Ma antibody positivity + 0
              Anti-NMDA receptor antibody positivity 0
              Anti-P/Q-type VGCC antibody positivity 0
              Anti-PKCgamma antibody 0
              Anti-RNA-polymerase-III-autoantibody positivity 0
              Anti-Ri antibody 0
              Anti-Ro52/TRIM21 antibody positivity 0
              Anti-RuvBL1/2 antibody positivity 0
              Anti-SEZ6L2 antibody 0
              Anti-SOX1 antibody 0
              Anti-SUMO-activating enzyme antibody positivity + 0
              Anti-Septin-5 antibody 0
              Anti-Sj/ITPR1 antibody 0
              Anti-Su antigen/argonaute 2 antibody positivity 0
              Anti-TRIM46 antibody 0
              Anti-TRIM9/TRIM67 antibody 0
              Anti-Th/To antibody positivity 0
              Anti-Tr/DNER antibody 0
              Anti-U11/U12 RNP antibody positivity 0
              Anti-U3 RNP antibody positivity 0
              Anti-Y-box protein-1 antibody positivity 0
              Anti-Yo antibody positivity 0
              Anti-Zic4 antibody positivity 0
              Anti-Zinc transporter 8 antibody positivity 0
              Anti-acetylcholine receptor antibody positivity 21
              Anti-aminoacyl-tRNA synthetase antibody positivity + 0
              Anti-angiotensin receptor type-1 antibody positivity 0
              Anti-angiotensin-converting enzyme 2 antibody positivity 0
              Anti-annexin-V antibody positivity 0
              Anti-aquaporin 4 antibody positivity 1
              Anti-asialoglycoprotein receptor antibody positivity 0
              Anti-beta 2 glycoprotein I antibody positivity + 1
              Anti-bicaudal D2 antibody positivity 0
              Anti-carbonic anhydrase II antibody positivity 0
              Anti-carbonic anhydrase VI antibody positivity 0
              Anti-centromere protein A antibody positivity 0
              Anti-centromere protein B antibody positivity 0
              Anti-citrullinated protein antibody positivity 6
              Anti-complement component C1q antibody positivity 0
              Anti-contactin-1 antibody positivity + 0
              Anti-cyclic citrullinated peptide antibody positivity 0
              Anti-cytosolic-5-nucleotidase-1A antibody positivity 0
              Anti-desmoglein-1 antibody positivity 0
              Anti-desmoglein-3 antibody positivity 0
              Anti-desmoplakin I antibody positivity 0
              Anti-desmoplakin II antibody positivity 0
              Anti-endothelin-1 type A receptor antibody positivity 0
              Anti-enterocyte antibody positivity 0
              Anti-envoplakin antibody positivity 0
              Anti-ganglioside antibody positivity + 0
              Anti-glomerular basement membrane-antibody positivity 0
              Anti-glutamic acid decarboxylase antibody positivity 4
              Anti-glycoprotein-210 antibody positivity 0
              Anti-granulocyte-macrophage colony stimulating factor antibody positivity 1
              Anti-hexokinase-1 antibody positivity 0
              Anti-insulin antibody positivity 0
              Anti-integrin antibody positivity 0
              Anti-islet antigen-2 antibody positivity + 2
              Anti-laminin antibody positivity + 0
              Anti-liver cytosolic antigen type 1 antibody positivity 1
              Anti-mGluR1 antibody 0
              Anti-mGluR5 antibody 0
              Anti-mitochondrial M2 antibody positivity 1
              Anti-muscle-specific tyrosine kinase antibody 0
              Anti-myelin oligodendrocyte glycoprotein antibody positivity 0
              Anti-myelin-associated glycoprotein antibody positivity 0
              Anti-neurexin-3alpha antibody positivity 0
              Anti-neurofascin 186 antibody positivity 0
              Anti-neurofascin-155 antibody positivity 0
              Anti-neutrophil elastase antibody positivity 0
              Anti-nuclear matrix protein-2 antibody positivity 0
              Anti-nucleolus-organizing region antibody positivity 0
              Anti-osteoprotegerin antibody positivity 0
              Anti-p53 antibody positivity 0
              Anti-parotid secretory protein antibody positivity 0
              Anti-periplakin antibody positivity 0
              Anti-phosphatidic acid antibody positivity 0
              Anti-phosphatidyl choline antibody positivity 0
              Anti-phosphatidyl ethanolamine antibody positivity 0
              Anti-phosphatidyl glycerol antibody positivity 0
              Anti-phosphatidyl inositol antibody positivity 0
              Anti-phosphatidyl serine antibody positivity 0
              Anti-phospholipase A2 receptor antibody positivity 0
              Anti-pituitary antibody positivity 0
              Anti-plasminogen binding peptide antibody positivity 0
              Anti-platelet antigen antibody positivity 1
              Anti-platelet derived growth factor receptor 0
              Anti-reticulin antibody positivity 0
              Anti-ribosome Po antibody positivity 0
              Anti-ryanodine receptor antibody 0
              Anti-salivary protein antibody positivity 0
              Anti-side-chain cleavage enzyme antibody positivity 0
              Anti-signal recognition particle antibody positivity 0
              Anti-smooth muscle antibody positivity 3
              Anti-soluble liver antigen/liver pancreas antibody positivity 0
              Anti-sphingolipid antibody positivity 0
              Anti-steroid 17alpha-hydroxylase antibody positivity 0
              Anti-thrombospondin type I domain-containing 7A antibody positivity 0
              Anti-thyroid antibody positivity + 11
              Anti-tissue transglutaminase antibody positivity + 0
              Anti-titin antibody positivity 0
              Anti-transcription intermediary factor-1gamma antibody positivity 0
              Anti-type VII collagen antibody 0
              Anti-voltage-gated potassium channel antibody positivity 0
              Antigliadin antibody positivity 0
              Antilactoferrin antibody positivity 0
              Antimitochondrial antibody positivity 10
              Antineutrophil antibody positivity + 52
              Antinuclear antibody positivity + 77
              Antiphospholipid antibody positivity + 20
              Antisperm antibody positivity 0
              C3 nephritic factor positivity 0
              C4 nephritic factor positivity 0
              Calcium channel antibody positivity 0
              IgG4 autoimmune antibody positivity 0
              Insulin receptor antibody positivity 2
              Liver kidney microsome type 1 antibody positivity 0
              Lupus anticoagulant 6
              Platelet antibody positive 5
              Positive direct antiglobulin test 3
              Rheumatoid factor positive 23
              Warm reactive autoantibody positivity 0
              anti-LAD-1 antibody positivity 0
paths to the root