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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:proteasome-associated autoinflammatory syndrome 1
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Accession:DOID:0050553 term browser browse the term
Definition:A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. (DO)
Synonyms:exact_synonym: ALDD;   CANDLE;   JMP syndrome;   NKJO;   Nakajo-Nishimura syndrome;   PRAAS1;   autoinflammation, lipodystrophy, and dermatosis syndrome;   chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome;   joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
 narrow_synonym: proteasome-associated autoinflammatory syndrome 1, digenic
 broad_synonym: PSMB8-related condition
 xref: GARD:10988;   GARD:3916;   GARD:3917;   MIM:256040;   MONDO:0054698;   NCI:C176619;   ORDO:324999

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proteasome-associated autoinflammatory syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,505,572...24,520,092
Ensembl chrNW_004624754:24,505,606...24,520,092 		JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,138,086...24,140,900 JBrowse link
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,145,349...24,151,731
Ensembl chrNW_004624754:24,145,919...24,155,278 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,590,071...24,591,913
Ensembl chrNW_004624754:24,590,071...24,591,904 		JBrowse link
G Anks1a ankyrin repeat and sterile alpha motif domain containing 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,306,363...22,463,273
Ensembl chrNW_004624754:22,309,812...22,463,170 		JBrowse link
G Apom apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,554,705...24,558,093
Ensembl chrNW_004624754:24,554,705...24,557,098 		JBrowse link
G Armc12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,787,998...21,795,825
Ensembl chrNW_004624754:21,788,031...21,795,807 		JBrowse link
G Atf6b activating transcription factor 6 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,185,203...24,194,351
Ensembl chrNW_004624754:24,184,261...24,194,904 		JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,652,156...24,654,753
Ensembl chrNW_004624754:24,651,780...24,654,860 		JBrowse link
G B3galt4 beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,542,500...23,543,855 JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,559,483...24,571,073
Ensembl chrNW_004624754:24,559,801...24,571,073 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,297,077...23,302,366
Ensembl chrNW_004624754:23,296,800...23,301,223 		JBrowse link
G Bltp3a bridge-like lipid transfer protein family member 3A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,474,951...22,536,828
Ensembl chrNW_004624754:22,476,430...22,536,630 		JBrowse link
G Bnip5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,362,516...21,372,163 JBrowse link
G Brd2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062 		JBrowse link
G Brpf3 bromodomain and PHD finger containing 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,431,574...21,466,158
Ensembl chrNW_004624754:21,431,574...21,462,051 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,316,778...24,327,065
Ensembl chrNW_004624754:24,317,058...24,322,656 		JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,770,308...24,781,717
Ensembl chrNW_004624754:24,770,208...24,785,437 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885 		JBrowse link
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,796,308...24,800,324
Ensembl chrNW_004624754:24,796,341...24,799,913 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,476,262...24,482,529
Ensembl chrNW_004624754:24,476,213...24,482,529 		JBrowse link
G Clps colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,762,628...21,770,711
Ensembl chrNW_004624754:21,768,316...21,770,706 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
G Cpne5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:20,995,407...21,067,853
Ensembl chrNW_004624754:20,995,413...21,068,130 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,533,134...24,538,233 JBrowse link
G CUNH6orf15 chromosome unknown C6orf15 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,802,111...24,805,028 JBrowse link
G CUNH6orf47 chromosome unknown C6orf47 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,552,352...24,554,596 JBrowse link
G CUNH6orf89 chromosome unknown C6orf89 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:20,937,550...20,972,019
Ensembl chrNW_004624754:20,937,550...20,972,019 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,398,591...23,400,111
Ensembl chrNW_004624754:23,398,684...23,400,108 		JBrowse link
G Daxx death domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,504,465...23,509,034
Ensembl chrNW_004624754:23,505,386...23,509,241 		JBrowse link
G Ddah2 DDAH family member 2, ADMA-independent ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,482,818...24,486,146
Ensembl chrNW_004624754:24,482,114...24,489,911 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,881,439...24,905,633
Ensembl chrNW_004624754:24,880,496...24,896,995 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,657,019...24,667,225
Ensembl chrNW_004624754:24,657,914...24,667,579 		JBrowse link
G Def6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,092,579...22,124,804
Ensembl chrNW_004624754:22,092,585...22,124,787 		JBrowse link
G Dxo decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,281,099...24,283,403
Ensembl chrNW_004624754:24,281,101...24,287,647 		JBrowse link
G Egfl8 EGF like domain multiple 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,152,544...24,155,271
Ensembl chrNW_004624754:24,152,811...24,155,240 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,992,023...22,000,309
Ensembl chrNW_004624754:21,993,271...22,000,398 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,825,122...21,930,870
Ensembl chrNW_004624754:21,870,240...21,929,838 		JBrowse link
G Fkbpl FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,181,330...24,184,748 JBrowse link
G Flot1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,992,961...25,000,463
Ensembl chrNW_004624754:24,992,929...25,003,759 		JBrowse link
G Gpank1 G-patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,537,770...24,541,845
Ensembl chrNW_004624754:24,538,634...24,545,561 		JBrowse link
G Gpsm3 G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,130,303...24,132,332
Ensembl chrNW_004624754:24,129,812...24,132,333 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,931,964...23,000,003
Ensembl chrNW_004624754:22,932,967...22,999,735 		JBrowse link
G Gtf2h4 general transcription factor IIH subunit 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,871,006...24,876,957
Ensembl chrNW_004624754:24,871,008...24,877,436 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,888,052...22,900,685
Ensembl chrNW_004624754:22,892,226...22,898,807 		JBrowse link
G Hsd17b8 hydroxysteroid 17-beta dehydrogenase 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,600,706...23,602,786
Ensembl chrNW_004624754:23,600,706...23,602,751 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,403,438...24,423,477
Ensembl chrNW_004624754:24,416,738...24,424,613 		JBrowse link
G Ier3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,991,650...24,992,645
Ensembl chrNW_004624754:24,991,690...24,992,643 		JBrowse link
G Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,613,396...22,694,022 JBrowse link
G Ip6k3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,191,793...23,212,581
Ensembl chrNW_004624754:23,195,787...23,207,754 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor type 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,228,690...23,281,552
Ensembl chrNW_004624754:23,229,281...23,281,621 		JBrowse link
G Kctd20 potassium channel tetramerization domain containing 20 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,272,308...21,303,679 JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,405,951...23,421,696
Ensembl chrNW_004624754:23,410,007...23,413,902 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,159,234...23,173,452
Ensembl chrNW_004624754:23,158,985...23,173,885 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,744,784...21,763,161
Ensembl chrNW_004624754:21,749,312...21,762,896 		JBrowse link
G LOC101697345 HLA class II histocompatibility antigen, DP beta 1 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663 		JBrowse link
G LOC101698463 HLA class II histocompatibility antigen, DP alpha 1 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,674,935...23,683,044
Ensembl chrNW_004624754:23,674,448...23,683,662 		JBrowse link
G LOC101698840 HLA class II histocompatibility antigen, DO alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,725,903...23,729,446
Ensembl chrNW_004624754:23,725,986...23,727,765 		JBrowse link
G LOC101700274 HLA class II histocompatibility antigen, DM alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,752,352...23,765,319
Ensembl chrNW_004624754:23,762,051...23,765,593 		JBrowse link
G LOC101701356 HLA class II histocompatibility antigen, DM beta chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,774,013...23,779,851
Ensembl chrNW_004624754:23,773,934...23,779,952 		JBrowse link
G LOC101702636 HLA class II histocompatibility antigen, DO beta chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,846,677...23,853,674
Ensembl chrNW_004624754:23,839,985...23,851,756 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G LOC101706352 ubiquinol-cytochrome-c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,215,920...23,227,895
Ensembl chrNW_004624754:23,215,962...23,227,895 		JBrowse link
G LOC101706353 HLA class II histocompatibility antigen, DR alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,079,459...24,086,342
Ensembl chrNW_004624754:24,079,366...24,084,512 		JBrowse link
G LOC101717066 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,252,754...24,257,540 JBrowse link
G Lsm2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,425,503...24,429,916
Ensembl chrNW_004624754:24,425,463...24,429,916 		JBrowse link
G Lst1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,613,554...24,615,594 JBrowse link
G Lta lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182 		JBrowse link
G Ltb lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,618,888...24,620,448 JBrowse link
G Ly6g5b lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,530,723...24,532,937
Ensembl chrNW_004624754:24,531,301...24,532,284 		JBrowse link
G Ly6g5c lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,526,003...24,528,280 JBrowse link
G Ly6g6c lymphocyte antigen 6 family member G6C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,490,361...24,493,619
Ensembl chrNW_004624754:24,490,422...24,493,555 		JBrowse link
G Ly6g6d lymphocyte antigen 6 family member G6D ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,494,299...24,496,562
Ensembl chrNW_004624754:24,494,446...24,496,100 		JBrowse link
G Ly6g6f lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,499,550...24,504,048
Ensembl chrNW_004624754:24,500,678...24,503,519 		JBrowse link
G Mapk13 mitogen-activated protein kinase 13 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,506,086...21,513,803
Ensembl chrNW_004624754:21,506,369...21,513,801 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		JBrowse link
G Mln motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,148,723...23,153,427 JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,486,241...24,491,771
Ensembl chrNW_004624754:24,487,765...24,489,315 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,453,750...24,477,574
Ensembl chrNW_004624754:24,453,902...24,473,051 		JBrowse link
G Mtch1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:20,900,723...20,914,894
Ensembl chrNW_004624754:20,900,443...20,915,302 		JBrowse link
G Mucl3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,837,320...24,840,302 JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,607,623...24,612,716 JBrowse link
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,300,012...24,310,777
Ensembl chrNW_004624754:24,300,602...24,310,671 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,382,509...24,386,410
Ensembl chrNW_004624754:24,382,467...24,387,874 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,639,757...24,652,059
Ensembl chrNW_004624754:24,639,860...24,649,968 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,108,661...24,128,053 JBrowse link
G Nudt3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,790,378...22,873,608
Ensembl chrNW_004624754:22,790,217...22,873,603 		JBrowse link
G Pacsin1 protein kinase C and casein kinase substrate in neurons 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,723,479...22,762,262
Ensembl chrNW_004624754:22,723,317...22,734,344 		JBrowse link
G Pbx2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,132,886...24,137,699 JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,531,016...23,532,350
Ensembl chrNW_004624754:23,531,016...23,532,388 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,400,338...23,405,370
Ensembl chrNW_004624754:23,400,664...23,404,212 		JBrowse link
G Pi16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:20,918,927...20,926,141
Ensembl chrNW_004624754:20,915,415...20,925,842 		JBrowse link
G Pnpla1 patatin like domain 1, omega-hydroxyceramide transacylase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,370,872...21,410,804
Ensembl chrNW_004624754:21,375,463...21,410,961 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
G Ppard peroxisome proliferator activated receptor delta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,021,465...22,084,320 JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:20,976,765...20,985,408
Ensembl chrNW_004624754:20,976,515...20,985,393 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,156,063...24,163,518
Ensembl chrNW_004624754:24,155,314...24,169,434 		JBrowse link
G Prrc2a proline rich coiled-coil 2A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,572,178...24,586,696
Ensembl chrNW_004624754:24,572,546...24,584,643 		JBrowse link
G Prrt1 proline rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,165,085...24,168,614
Ensembl chrNW_004624754:24,164,871...24,168,614 		JBrowse link
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chrNW_004624884:3,324,390...3,346,128
Ensembl chrNW_004624884:3,324,418...3,346,128 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chrNW_004624772:19,124,327...19,126,731
Ensembl chrNW_004624772:19,124,386...19,126,627 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: PSMB8-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chrNW_004624754:23,822,965...23,826,367
Ensembl chrNW_004624754:23,823,115...23,826,367 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,783,528...24,785,397
Ensembl chrNW_004624754:24,783,761...24,785,331 		JBrowse link
G Pxt1 peroxisomal testis enriched protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,312,998...21,323,769 JBrowse link
G Rab44 RAB44, member RAS oncogene family ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,072,113...21,092,517 JBrowse link
G Rgl2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,522,277...23,530,541
Ensembl chrNW_004624754:23,522,258...23,529,766 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,595,612...23,599,146
Ensembl chrNW_004624754:23,594,910...23,599,434 		JBrowse link
G Rnf5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,141,072...24,143,460
Ensembl chrNW_004624754:24,141,072...24,143,489 		JBrowse link
G Rpl10a ribosomal protein L10a ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,988,641...21,991,846
Ensembl chrNW_004624754:21,988,641...21,991,768 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,773,327...22,777,867
Ensembl chrNW_004624754:22,774,201...22,778,248 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,544,042...23,548,935
Ensembl chrNW_004624754:23,544,043...23,548,301 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,607,046...23,613,399
Ensembl chrNW_004624754:23,606,955...23,613,508 		JBrowse link
G Sapcd1 suppressor APC domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,452,429...24,453,725 JBrowse link
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,164,319...22,196,569
Ensembl chrNW_004624754:22,166,578...22,196,540 		JBrowse link
G Sfta2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,847,854...24,853,183
Ensembl chrNW_004624754:24,852,310...24,856,605 		JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,607,197...21,667,484
Ensembl chrNW_004624754:21,608,000...21,667,083 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,602,940...23,606,903
Ensembl chrNW_004624754:23,603,141...23,640,406 		JBrowse link
G Slc44a4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,368,697...24,381,959
Ensembl chrNW_004624754:24,368,716...24,382,397 		JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,553,485...22,567,601
Ensembl chrNW_004624754:22,553,491...22,567,529 		JBrowse link
G Spdef SAM pointed domain containing ETS transcription factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,714,181...22,721,113
Ensembl chrNW_004624754:22,714,432...22,720,504 		JBrowse link
G Srpk1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,679,597...21,743,951
Ensembl chrNW_004624754:21,679,578...21,743,913 		JBrowse link
G Srsf3 serine and arginine rich splicing factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,163,232...21,171,122
Ensembl chrNW_004624754:21,163,232...21,171,058 		JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,220,121...21,271,065
Ensembl chrNW_004624754:21,227,417...21,271,964 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,367,585...23,396,643
Ensembl chrNW_004624754:23,366,912...23,396,575 		JBrowse link
G Taf11 TATA-box binding protein associated factor 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,463,406...22,471,197
Ensembl chrNW_004624754:22,463,441...22,471,192 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,815,464...23,822,480
Ensembl chrNW_004624754:23,815,915...23,822,827 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,513,060...23,521,169
Ensembl chrNW_004624754:23,509,436...23,520,135 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,766,212...24,770,136
Ensembl chrNW_004624754:24,765,742...24,770,135 		JBrowse link
G Tcp11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,258,418...22,284,562
Ensembl chrNW_004624754:22,264,830...22,282,795 		JBrowse link
G Tead3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,971,362...21,987,128
Ensembl chrNW_004624754:21,971,445...21,986,557 		JBrowse link
G Tnf tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,198,979...24,253,185 JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:21,961,513...21,971,362 JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,430,500...24,442,181
Ensembl chrNW_004624754:24,430,920...24,442,110 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,856,704...24,870,932
Ensembl chrNW_004624754:24,856,939...24,870,932 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,549,033...23,563,756
Ensembl chrNW_004624754:23,548,998...23,563,931 		JBrowse link
G Vwa7 von Willebrand factor A domain containing 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,442,327...24,451,739
Ensembl chrNW_004624754:24,442,721...24,451,635 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,532,579...23,542,109
Ensembl chrNW_004624754:23,532,771...23,541,975 		JBrowse link
G Whr1 winged helix repair factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,271,284...24,280,963
Ensembl chrNW_004624754:24,271,875...24,280,939 		JBrowse link
G Zbtb12 zinc finger and BTB domain containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:24,350,279...24,353,008
Ensembl chrNW_004624754:24,350,282...24,352,536 		JBrowse link
G Zbtb22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,509,661...23,512,909
Ensembl chrNW_004624754:23,509,668...23,512,414 		JBrowse link
G Zbtb9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:23,362,175...23,366,867
Ensembl chrNW_004624754:23,364,916...23,366,349 		JBrowse link
G Znf76 zinc finger protein 76 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624754:22,126,033...22,158,488
Ensembl chrNW_004624754:22,126,033...22,158,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    syndrome 9755
      primary immunodeficiency disease 3754
        autoinflammatory disease 363
          proteosome-associated autoinflammatory syndrome 150
            proteasome-associated autoinflammatory syndrome 1 147
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12272
        Neurologic Manifestations 9180
          sensory system disease 6543
            skin disease 3824
              Genetic Skin Diseases 1732
                Hereditary Autoinflammatory Diseases 332
                  proteosome-associated autoinflammatory syndrome 150
                    proteasome-associated autoinflammatory syndrome 1 147
paths to the root