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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 mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene 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
 primary_id: MIM:256040
 xref: GARD:10988;   GARD:3916;   GARD:3917;   NCI:C176619;   ORDO:324999


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,168,212...32,178,108
Ensembl chr 6:32,168,212...32,178,096 		JBrowse link
G AIF1 allograft inflammatory factor 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021 		JBrowse link
G ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,889,255...35,097,990
Ensembl chr 6:34,889,255...35,091,406 		JBrowse link
G APOM apolipoprotein M IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210 		JBrowse link
G ARMC12 armadillo repeat containing 12 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,731,524...35,749,079
Ensembl chr 6:35,737,032...35,749,079 		JBrowse link
G ATF6B activating transcription factor 6 beta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,115,264...32,128,246
Ensembl chr 6:32,115,264...32,128,253 		JBrowse link
G ATP6V1G2 ATPase H+ transporting V1 subunit G2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,544,444...31,546,742
Ensembl chr 6:31,544,444...31,548,427 		JBrowse link
G B3GALT4 beta-1,3-galactosyltransferase 4 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,277,123...33,278,825
Ensembl chr 6:33,277,123...33,284,832 		JBrowse link
G BAG6 BAG cochaperone 6 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,639,028...31,652,661
Ensembl chr 6:31,639,028...31,652,705 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293 		JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,792,083...34,877,514
Ensembl chr 6:34,792,083...34,877,514 		JBrowse link
G BNIP5 BCL2 interacting protein 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,315,761...36,336,888
Ensembl chr 6:36,315,761...36,336,888 		JBrowse link
G BRD2 bromodomain containing 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505 		JBrowse link
G BRPF3 bromodomain and PHD finger containing 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,196,744...36,232,790
Ensembl chr 6:36,196,744...36,232,790 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C2 complement C2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 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 ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G C6orf15 chromosome 6 open reading frame 15 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,111,223...31,112,575
Ensembl chr 6:31,111,223...31,112,575 		JBrowse link
G C6orf47 chromosome 6 open reading frame 47 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,658,298...31,660,778
Ensembl chr 6:31,658,298...31,660,778 		JBrowse link
G C6orf89 chromosome 6 open reading frame 89 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,871,844...36,928,964
Ensembl chr 6:36,871,870...36,928,964 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,142,439...31,158,197
Ensembl chr 6:31,142,439...31,158,238 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDSN corneodesmosin IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446 		JBrowse link
G CFB complement factor B IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CLIC1 chloride intracellular channel 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763 		JBrowse link
G CLPS colipase IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,794,982...35,797,323
Ensembl chr 6:35,794,982...35,797,344 		JBrowse link
G CLPSL1 colipase like 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,781,019...35,794,039
Ensembl chr 6:35,781,019...35,793,675 		JBrowse link
G CLPSL2 colipase like 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,776,598...35,779,552
Ensembl chr 6:35,776,594...35,779,552 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G CPNE5 copine 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,740,775...36,839,998
Ensembl chr 6:36,740,775...36,839,444 		JBrowse link
G CSNK2B casein kinase 2 beta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343 		JBrowse link
G CUTA cutA divalent cation tolerance homolog IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,416,442...33,418,107
Ensembl chr 6:33,416,442...33,418,317 		JBrowse link
G CYP21A2 cytochrome P450 family 21 subfamily A member 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644 		JBrowse link
G DAXX death domain associated protein IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G DDAH2 DDAH family member 2, ADMA-independent IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,727,040...31,730,263
Ensembl chr 6:31,727,038...31,730,617 		JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156 		JBrowse link
G DDX39B DExD-box helicase 39B IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,530,226...31,542,003
Ensembl chr 6:31,530,219...31,542,448 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DXO decapping exoribonuclease IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,969,815...31,972,138
Ensembl chr 6:31,969,810...31,972,290 		JBrowse link
G EGFL8 EGF like domain multiple 8 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,164,595...32,168,281
Ensembl chr 6:32,164,595...32,168,281 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698 		JBrowse link
G ETV7 ETS variant transcription factor 7 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,354,088...36,387,669
Ensembl chr 6:36,354,091...36,387,800 		JBrowse link
G FANCE FA complementation group E IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FKBP5 FKBP prolyl isomerase 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,573,590...35,728,583
Ensembl chr 6:35,573,585...35,728,583 		JBrowse link
G FKBPL FKBP prolyl isomerase like IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,128,707...32,130,288
Ensembl chr 6:32,128,707...32,130,288 		JBrowse link
G FLOT1 flotillin 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,727,709...30,742,687
Ensembl chr 6:30,727,709...30,742,732 		JBrowse link
G GPANK1 G-patch domain and ankyrin repeats 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,661,228...31,666,283
Ensembl chr 6:31,661,228...31,666,283 		JBrowse link
G GPSM3 G protein signaling modulator 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,190,766...32,195,523
Ensembl chr 6:32,190,766...32,195,523 		JBrowse link
G GRM4 glutamate metabotropic receptor 4 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,018,643...34,155,622
Ensembl chr 6:34,018,643...34,155,622 		JBrowse link
G GTF2H4 general transcription factor IIH subunit 4 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,908,207...30,914,106
Ensembl chr 6:30,908,207...30,914,106 		JBrowse link
G HCG22 HLA complex group 22 (non-protein coding) IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,053,449...31,059,849
Ensembl chr 6:31,053,311...31,065,229 		JBrowse link
G HCG26 HLA complex group 26 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,471,229...31,472,408 JBrowse link
G HCP5 HLA complex P5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,463,180...31,465,809
Ensembl chr 6:31,463,144...31,494,470 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-C major histocompatibility complex, class I, C IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130 		JBrowse link
G HLA-DMA major histocompatibility complex, class II, DM alpha IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,948,618...32,953,097
Ensembl chr 6:32,948,613...32,969,094 		JBrowse link
G HLA-DMB major histocompatibility complex, class II, DM beta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,934,636...32,941,028
Ensembl chr 6:32,934,629...32,941,028 		JBrowse link
G HLA-DOA major histocompatibility complex, class II, DO alpha IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,004,182...33,009,591
Ensembl chr 6:33,004,182...33,009,591 		JBrowse link
G HLA-DOB major histocompatibility complex, class II, DO beta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,812,763...32,817,002
Ensembl chr 6:32,812,763...32,820,466 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,741,391...32,747,198
Ensembl chr 6:32,741,391...32,747,198 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,756,098...32,763,532
Ensembl chr 6:32,756,098...32,763,532 		JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HLA-DRB5 major histocompatibility complex, class II, DR beta 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,517,353...32,530,287
Ensembl chr 6:32,517,353...32,530,287 		JBrowse link
G HMGA1 high mobility group AT-hook 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231 		JBrowse link
G HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,204,655...33,206,831
Ensembl chr 6:33,204,655...33,206,831 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254 		JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,809,619...31,815,283
Ensembl chr 6:31,809,619...31,815,283 		JBrowse link
G IER3 immediate early response 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,743,199...30,744,547
Ensembl chr 6:30,743,199...30,744,548 		JBrowse link
G ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,587,288...34,696,767
Ensembl chr 6:34,587,288...34,696,859 		JBrowse link
G IP6K3 inositol hexakisphosphate kinase 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,721,662...33,762,145
Ensembl chr 6:33,721,662...33,746,905 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G KCTD20 potassium channel tetramerization domain containing 20 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,443,000...36,491,141
Ensembl chr 6:36,442,767...36,491,143 		JBrowse link
G KIFC1 kinesin family member C1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,391,461...33,409,896
Ensembl chr 6:33,391,823...33,409,896 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LSM2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,797,396...31,806,966
Ensembl chr 6:31,797,396...31,806,966 		JBrowse link
G LST1 leukocyte specific transcript 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,586,277...31,588,909
Ensembl chr 6:31,586,124...31,588,909 		JBrowse link
G LTA lymphotoxin alpha IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G LTB lymphotoxin beta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,580,558...31,582,425
Ensembl chr 6:31,580,525...31,582,522 		JBrowse link
G LY6G5B lymphocyte antigen 6 family member G5B IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,669,976...31,673,546
Ensembl chr 6:31,669,976...31,673,776 		JBrowse link
G LY6G5C lymphocyte antigen 6 family member G5C IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,676,684...31,681,067
Ensembl chr 6:31,676,684...31,684,040 		JBrowse link
G LY6G6C lymphocyte antigen 6 family member G6C IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,718,648...31,721,746
Ensembl chr 6:31,718,648...31,721,746 		JBrowse link
G LY6G6D lymphocyte antigen 6 family member G6D IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,715,348...31,717,919
Ensembl chr 6:31,715,348...31,717,919 		JBrowse link
G LY6G6F lymphocyte antigen 6 family member G6F IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,706,866...31,710,679
Ensembl chr 6:31,706,866...31,710,679 		JBrowse link
G MAPK13 mitogen-activated protein kinase 13 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,130,513...36,144,521
Ensembl chr 6:36,127,809...36,144,524 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511 		JBrowse link
G MCCD1 mitochondrial coiled-coil domain 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,528,962...31,530,232
Ensembl chr 6:31,528,962...31,530,232 		JBrowse link
G MICA MHC class I polypeptide-related sequence A IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,400,711...31,415,315
Ensembl chr 6:31,399,784...31,415,315 		JBrowse link
G MICB MHC class I polypeptide-related sequence B IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,494,918...31,511,124
Ensembl chr 6:31,494,881...31,511,124 		JBrowse link
G MIR219A1 microRNA 219a-1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,207,835...33,207,944
Ensembl chr 6:33,207,835...33,207,944 		JBrowse link
G MLN motilin IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,794,673...33,804,003
Ensembl chr 6:33,794,673...33,804,003 		JBrowse link
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,720,296...31,726,714
Ensembl chr 6:31,718,594...31,726,714 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MTCH1 mitochondrial carrier 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,968,135...36,986,551
Ensembl chr 6:36,965,807...36,986,298 		JBrowse link
G MUC21 mucin 21, cell surface associated IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,983,718...30,989,903
Ensembl chr 6:30,983,718...30,989,903 		JBrowse link
G MUC22 mucin 22 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,005,952...31,035,402
Ensembl chr 6:31,010,474...31,035,402 		JBrowse link
G MUCL3 mucin like 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,940,973...30,954,221
Ensembl chr 6:30,934,523...30,954,221 		JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,588,895...31,593,006
Ensembl chr 6:31,588,895...31,593,006 		JBrowse link
G NELFE negative elongation factor complex member E IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,952,087...31,958,971
Ensembl chr 6:31,952,087...31,959,038 		JBrowse link
G NEU1 neuraminidase 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NOTCH4 notch receptor 4 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NUDT3 nudix hydrolase 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,279,679...34,392,669
Ensembl chr 6:34,279,679...34,392,669 		JBrowse link
G PACSIN1 protein kinase C and casein kinase substrate in neurons 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,466,076...34,535,223
Ensembl chr 6:34,466,061...34,535,229 		JBrowse link
G PBX2 PBX homeobox 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,184,733...32,190,202
Ensembl chr 6:32,184,733...32,190,202 		JBrowse link
G PFDN6 prefoldin subunit 6 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,289,197...33,290,934
Ensembl chr 6:33,289,302...33,298,401 		JBrowse link
G PHF1 PHD finger protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,410,412...33,416,439
Ensembl chr 6:33,410,399...33,416,453 		JBrowse link
G PI16 peptidase inhibitor 16 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,948,296...36,964,837
Ensembl chr 6:36,948,263...36,964,837 		JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,243,168...36,313,955
Ensembl chr 6:36,243,203...36,313,955 		JBrowse link
G POU5F1 POU class 5 homeobox 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		JBrowse link
G PPARD peroxisome proliferator activated receptor delta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803 		JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,153,528...32,163,675
Ensembl chr 6:32,153,441...32,163,678 		JBrowse link
G PRRC2A proline rich coiled-coil 2A IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,620,715...31,637,771
Ensembl chr 6:31,620,715...31,637,771 		JBrowse link
G PRRT1 proline rich transmembrane protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,148,363...32,153,083
Ensembl chr 6:32,148,359...32,153,083 		JBrowse link
G PSMA3 proteasome 20S subunit alpha 3 IAGP ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr14:58,244,843...58,272,004
Ensembl chr14:58,244,843...58,272,012 		JBrowse link
G PSMA3-AS1 PSMA3 antisense RNA 1 IAGP ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr14:58,265,365...58,298,137
Ensembl chr14:58,265,365...58,298,641 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:25741868 NCBI chr 6:32,844,086...32,846,500
Ensembl chr 6:32,844,078...32,846,500 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G PSORS1C1 psoriasis susceptibility 1 candidate 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,114,800...31,140,092
Ensembl chr 6:31,114,750...31,140,092 		JBrowse link
G PSORS1C2 psoriasis susceptibility 1 candidate 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,137,534...31,139,066
Ensembl chr 6:31,137,534...31,139,066 		JBrowse link
G PXT1 peroxisomal testis enriched protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,390,551...36,442,854
Ensembl chr 6:36,390,551...36,442,854 		JBrowse link
G RAB44 RAB44, member RAS oncogene family IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,697,826...36,733,184
Ensembl chr 6:36,697,826...36,733,184 		JBrowse link
G RGL2 ral guanine nucleotide dissociation stimulator like 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,291,654...33,301,612
Ensembl chr 6:33,291,654...33,298,942 		JBrowse link
G RING1 ring finger protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,208,500...33,212,716
Ensembl chr 6:33,208,500...33,212,722 		JBrowse link
G RNF5 ring finger protein 5 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,178,405...32,180,793
Ensembl chr 6:32,178,405...32,180,793 		JBrowse link
G RPL10A ribosomal protein L10a IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,468,401...35,470,780
Ensembl chr 6:35,468,401...35,470,785 		JBrowse link
G RPS10 ribosomal protein S10 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS18 ribosomal protein S18 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,272,075...33,276,511
Ensembl chr 6:33,272,075...33,276,511 		JBrowse link
G RXRB retinoid X receptor beta IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,193,588...33,200,853
Ensembl chr 6:33,193,588...33,200,665 		JBrowse link
G SAPCD1 suppressor APC domain containing 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,762,656...31,764,850
Ensembl chr 6:31,762,656...31,764,850 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079 		JBrowse link
G SFTA2 surfactant associated 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,931,353...30,932,170
Ensembl chr 6:30,931,353...30,955,636 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SLC26A8 solute carrier family 26 member 8 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,943,516...36,024,641
Ensembl chr 6:35,943,516...36,024,868 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SLC44A4 solute carrier family 44 member 4 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046 		JBrowse link
G SMIM29 small integral membrane protein 29 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,246,395...34,249,006
Ensembl chr 6:34,246,381...34,249,108 		JBrowse link
G SNHG32 small nucleolar RNA host gene 32 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,834,916...31,839,761
Ensembl chr 6:31,822,094...31,839,766 		JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,757,505...34,773,857
Ensembl chr 6:34,757,505...34,773,857 		JBrowse link
G SPDEF SAM pointed domain containing ETS transcription factor IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,537,802...34,556,329
Ensembl chr 6:34,537,802...34,556,333 		JBrowse link
G SRPK1 SRSF protein kinase 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,832,966...35,921,098
Ensembl chr 6:35,832,966...35,921,342 		JBrowse link
G SRSF3 serine and arginine rich splicing factor 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,594,362...36,605,600
Ensembl chr 6:36,594,353...36,605,911 		JBrowse link
G STK19 serine/threonine kinase 19 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821 		JBrowse link
G STK38 serine/threonine kinase 38 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:36,493,892...36,547,479
Ensembl chr 6:36,493,892...36,547,479 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TAF11 TATA-box binding protein associated factor 11 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:34,877,462...34,888,071
Ensembl chr 6:34,877,462...34,889,192 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 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 ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TAPBP TAP binding protein IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284 		JBrowse link
G TCF19 transcription factor 19 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,158,589...31,164,215
Ensembl chr 6:31,158,331...31,167,159 		JBrowse link
G TCP11 t-complex 11 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,118,075...35,141,339
Ensembl chr 6:35,118,071...35,148,610 		JBrowse link
G TEAD3 TEA domain transcription factor 3 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,473,597...35,497,079
Ensembl chr 6:35,473,597...35,497,079 		JBrowse link
G TNF tumor necrosis factor IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNXB tenascin XB IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334 		JBrowse link
G TSBP1 testis expressed basic protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:32,292,698...32,371,903
Ensembl chr 6:32,288,526...32,371,907 		JBrowse link
G TULP1 TUB like protein 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,696,764...33,711,700
Ensembl chr 6:33,694,293...33,711,727 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459 		JBrowse link
G VPS52 VPS52 subunit of GARP complex IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,250,272...33,271,965
Ensembl chr 6:33,250,272...33,272,047 		JBrowse link
G VWA7 von Willebrand factor A domain containing 7 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,765,590...31,777,328
Ensembl chr 6:31,765,590...31,777,328 		JBrowse link
G WDR46 WD repeat domain 46 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,279,108...33,289,239
Ensembl chr 6:33,279,108...33,289,247 		JBrowse link
G ZBTB12 zinc finger and BTB domain containing 12 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:31,899,613...31,902,086
Ensembl chr 6:31,899,613...31,902,086 		JBrowse link
G ZBTB22 zinc finger and BTB domain containing 22 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,314,418...33,317,942
Ensembl chr 6:33,314,406...33,317,942 		JBrowse link
G ZBTB9 zinc finger and BTB domain containing 9 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:33,453,083...33,457,544
Ensembl chr 6:33,453,970...33,457,544 		JBrowse link
G ZNF76 zinc finger protein 76 IAGP ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 6:35,259,533...35,295,985
Ensembl chr 6:35,258,909...35,295,985 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97386
    syndrome 29822
      proteosome-associated autoinflammatory syndrome 182
        proteasome-associated autoinflammatory syndrome 1 178
Path 2
Term Annotations click to browse term
  disease 97386
    disease of anatomical entity 91015
      nervous system disease 53020
        Neurologic Manifestations 31892
          sensory system disease 20955
            skin disease 10978
              Metabolic Skin Diseases 237
                lipodystrophy 237
                  proteosome-associated autoinflammatory syndrome 182
                    proteasome-associated autoinflammatory syndrome 1 178
paths to the root