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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:Metabolic Skin Diseases
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Accession:DOID:9002435 term browser browse the term
Definition:Diseases of the skin associated with underlying metabolic disorders.
Synonyms:exact_synonym: Metabolic Skin Disease
 xref: MESH:D012875

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show annotations for term's descendants           Sort by:
congenital generalized lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy ClinVar PMID:11967537 PMID:12765973 PMID:14557463 PMID:15181077 PMID:19226263 More... NCBI chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Berardinelli syndrome | ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: SEIP SYNDROME ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:12030893 PMID:12362029 More... NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy ClinVar NCBI chrNW_004955451:16,364,915...16,374,523
Ensembl chrNW_004955451:16,364,915...16,374,634 		JBrowse link
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 OMIM
ClinVar		 PMID:11967537 PMID:12765973 PMID:12826327 PMID:14557463 PMID:14715872 More... NCBI chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 OMIM
ClinVar		 PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 More... NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar PMID:25741868 NCBI chrNW_004955599:505,666...506,887
Ensembl chrNW_004955599:505,666...506,768 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO OMIM:269700 MouseDO NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 OMIM
ClinVar		 PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 More... NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403 		JBrowse link
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: BRUNZELL SYNDROME, AGPAT2-RELATED ClinVar PMID:11967537 PMID:12765973 PMID:12826327 PMID:14557463 PMID:25741868 More... NCBI chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 OMIM
ClinVar		 PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 More... NCBI chrNW_004955451:16,364,915...16,374,523
Ensembl chrNW_004955451:16,364,915...16,374,634 		JBrowse link
Congenital Generalized Lipodystrophy Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 5 OMIM
ClinVar		 PMID:24889630 PMID:28492532 NCBI chrNW_004955420:12,464,857...12,513,017
Ensembl chrNW_004955420:12,464,857...12,500,574 		JBrowse link
familial partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chrNW_004955578:950,258...1,004,438
Ensembl chrNW_004955578:967,593...1,004,438 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403 		JBrowse link
G Cidec cell death inducing DFFA like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955561:1,363,907...1,376,144 JBrowse link
G Lipe lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Familial partial lipodystrophy ClinVar PMID:21479595 PMID:25741868 PMID:28492532 PMID:28641778 PMID:32041611 More... NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609 		JBrowse link
familial partial lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
familial partial lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy ClinVar NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy OMIM
ClinVar		 PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 More... NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
familial partial lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: PLIN1-related condition | ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy OMIM
ClinVar		 PMID:18414213 PMID:21345103 PMID:25114292 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772 		JBrowse link
familial partial lipodystrophy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS OMIM
ClinVar		 PMID:18654663 PMID:20049731 PMID:25741868 NCBI chrNW_004955561:1,363,907...1,376,144 JBrowse link
familial partial lipodystrophy type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy OMIM
ClinVar		 PMID:24375490 PMID:24848981 PMID:25475467 PMID:25741868 PMID:27862896 More... NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759 		JBrowse link
Familial Partial Lipodystrophy Type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar		 PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 More... NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403 		JBrowse link
Familial Partial Lipodystrophy Type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2a adrenoceptor alpha 2A ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 8 OMIM
ClinVar		 PMID:27376152 NCBI chrNW_004955485:384,405...387,332
Ensembl chrNW_004955485:385,800...387,240 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chrNW_004955410:25,157,860...25,166,898
Ensembl chrNW_004955410:25,157,860...25,166,898 		JBrowse link
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:12876073 RGD:8694470 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chrNW_004955463:13,663,064...13,665,553 JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:15353983 PMID:20331838 RGD:8655915 RGD:8655934 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609 		JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly rectifying channel subfamily J member 6 ISO ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar		 PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chrNW_004955407:36,670,824...36,923,960
Ensembl chrNW_004955407:36,659,627...36,924,024 		JBrowse link
lipoatrophic diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19277603 RGD:8657358 NCBI chrNW_004955420:25,641,184...25,664,413 JBrowse link
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy 2 ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 susceptibility ISO RGD PMID:11967537 RGD:1598785 NCBI chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit d1 ISO MouseDO NCBI chrNW_004955484:9,167,439...9,206,193
Ensembl chrNW_004955484:9,167,439...9,206,193 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Lipodystrophy ClinVar PMID:18057387 PMID:25741868 NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
G Ebf1 EBF transcription factor 1 ISO OMIM:608709 MouseDO NCBI chrNW_004955408:12,735,893...13,121,700
Ensembl chrNW_004955408:12,739,083...13,121,699 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:24011075 RGD:10401088 NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582 		JBrowse link
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy ClinVar PMID:12920062 PMID:15060110 PMID:19095983 PMID:19169477 PMID:19589617 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Lpin1 lipin 1 ISO OMIM:608709 MouseDO NCBI chrNW_004955487:6,139,188...6,207,316
Ensembl chrNW_004955487:6,138,926...6,210,012 		JBrowse link
G Parp2 poly(ADP-ribose) polymerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21417348 NCBI chrNW_004955550:1,138,976...1,152,293
Ensembl chrNW_004955550:1,140,460...1,151,491 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chrNW_004955559:712,375...730,551
Ensembl chrNW_004955559:712,321...725,661 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Lipodystrophy ClinVar PMID:10622252 PMID:12663460 PMID:15254591 PMID:17003330 PMID:22461176 More... NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12913070 PMID:21828285 RGD:10043099 NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chrNW_004955559:712,375...730,551
Ensembl chrNW_004955559:712,321...725,661 		JBrowse link
mandibuloacral dysplasia type A lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
mandibuloacral dysplasia type B lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy OMIM
ClinVar		 PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609 		JBrowse link
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:2005308 PMID:2254511 PMID:3212331 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
Nasu-Hakola disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 ClinVar PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 More... NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor TYROBP ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM
ClinVar		 PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 More... NCBI chrNW_004955468:2,673,657...2,677,633
Ensembl chrNW_004955468:2,673,980...2,677,321 		JBrowse link
partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy | ClinVar Annotator: match by term: Lipodystrophy, partial, acquired, susceptibility to ClinVar
OMIM		 PMID:16826530 PMID:22768673 PMID:22995991 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928 		JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 ClinVar
OMIM		 PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 More... NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697 		JBrowse link
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome ClinVar
OMIM		 PMID:33060134 NCBI chrNW_004955458:4,265,500...4,294,329
Ensembl chrNW_004955458:4,275,517...4,294,257 		JBrowse link
Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy OMIM
ClinVar		 PMID:11479539 PMID:14557463 PMID:16735770 PMID:18093937 PMID:18690553 More... NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
proteasome-associated autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers 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_004955437:227,407...241,702
Ensembl chrNW_004955437:227,407...241,830 		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_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		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_004955437:633,522...642,659 JBrowse link
G Aif1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:157,509...158,919
Ensembl chrNW_004955437:157,509...158,919 		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_004955437:2,916,598...3,070,771
Ensembl chrNW_004955437:2,916,598...3,070,771 		JBrowse link
G Apom apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:190,609...192,781
Ensembl chrNW_004955437:190,609...197,342 		JBrowse link
G Armc12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,591,343...3,599,887
Ensembl chrNW_004955437:3,592,085...3,600,959 		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_004955437:582,083...592,026
Ensembl chrNW_004955437:582,431...591,810 		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_004955437:86,053...88,355
Ensembl chrNW_004955437:86,053...88,355 		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_004955437:1,839,707...1,840,516 JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:176,848...188,243
Ensembl chrNW_004955437:176,797...188,003 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,036,415...2,041,997
Ensembl chrNW_004955437:2,036,415...2,041,997 		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_004955437:2,844,544...2,905,073
Ensembl chrNW_004955437:2,875,835...2,904,114 		JBrowse link
G Bnip5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:4,049,113...4,067,150
Ensembl chrNW_004955437:4,048,788...4,067,223 		JBrowse link
G Brd2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826 		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_004955437:3,951,160...3,985,133
Ensembl chrNW_004955437:3,951,160...3,985,338 		JBrowse link
G Btnl2 butyrophilin like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,084,330...1,101,751
Ensembl chrNW_004955437:1,083,745...1,101,730 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:449,171...460,898
Ensembl chrNW_004955437:448,672...460,519 		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_004955583:979,138...989,267
Ensembl chrNW_004955583:978,825...989,793 		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_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479 		JBrowse link
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:959,544...968,632
Ensembl chrNW_004955583:958,668...964,149 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:269,276...275,949
Ensembl chrNW_004955437:269,276...275,949 		JBrowse link
G Clps colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,624,676...3,626,529 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_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490 		JBrowse link
G Cpne5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:6,153,486...6,218,774
Ensembl chrNW_004955437:6,153,486...6,219,096 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:210,541...215,725
Ensembl chrNW_004955437:210,838...219,694 		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_004955437:1,947,139...1,948,657
Ensembl chrNW_004955437:1,947,093...1,948,541 		JBrowse link
G Daxx death domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,869,692...1,874,041
Ensembl chrNW_004955437:1,869,572...1,873,050 		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_004955437:265,727...269,016
Ensembl chrNW_004955437:260,969...269,660 		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_004955583:820,893...838,515
Ensembl chrNW_004955583:820,931...841,654 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:72,835...84,045
Ensembl chrNW_004955437:72,835...84,384 		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_004955437:3,252,028...3,275,512
Ensembl chrNW_004955437:3,252,028...3,278,237 		JBrowse link
G Dxo decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:482,866...484,989
Ensembl chrNW_004955437:481,554...484,989 		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_004955437:630,099...633,592
Ensembl chrNW_004955437:631,619...633,315 		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_004955437:396,736...411,144
Ensembl chrNW_004955437:396,742...411,144 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,369,127...3,382,072
Ensembl chrNW_004955437:3,369,042...3,382,783 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,445,515...3,548,874
Ensembl chrNW_004955437:3,447,075...3,548,564 		JBrowse link
G Fkbpl FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:592,098...594,244
Ensembl chrNW_004955437:592,098...594,244 		JBrowse link
G Flot1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:717,246...729,924
Ensembl chrNW_004955583:713,560...729,924 		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_004955437:207,563...211,374
Ensembl chrNW_004955437:207,735...211,104 		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_004955437:654,475...656,335
Ensembl chrNW_004955437:654,475...656,335 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,358,839...2,449,145
Ensembl chrNW_004955437:2,358,795...2,430,260 		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_004955583:842,750...847,575
Ensembl chrNW_004955583:842,287...847,960 		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_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809 		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_004955437:1,778,276...1,780,397
Ensembl chrNW_004955437:1,778,276...1,780,397 		JBrowse link
G Ier3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:730,353...731,301
Ensembl chrNW_004955583:730,289...731,260 		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_004955437:2,697,998...2,769,998
Ensembl chrNW_004955437:2,694,945...2,769,998 		JBrowse link
G Ip6k3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,128,337...2,150,714
Ensembl chrNW_004955437:2,125,222...2,149,242 		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_004955437:2,055,782...2,106,709
Ensembl chrNW_004955437:2,055,805...2,106,076 		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_004955437:4,127,823...4,141,108
Ensembl chrNW_004955437:4,127,823...4,141,108 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,923,136...1,941,094
Ensembl chrNW_004955437:1,923,506...1,940,970 		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_004955437:2,163,977...2,178,783
Ensembl chrNW_004955437:2,163,878...2,176,665 		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_004955437:3,644,448...3,650,688 JBrowse link
G LOC102008255 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792 		JBrowse link
G LOC102009757 ubiquinol-cytochrome-c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,107,475...2,119,892
Ensembl chrNW_004955437:2,107,475...2,119,892 		JBrowse link
G LOC102018324 chromosome unknown open reading frame, human C6orf47 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:192,873...195,159
Ensembl chrNW_004955437:193,514...194,392 		JBrowse link
G LOC102019320 mamu class II histocompatibility antigen, DR alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,109,735...1,114,742
Ensembl chrNW_004955437:1,109,713...1,114,802 		JBrowse link
G LOC102023521 HLA class II histocompatibility antigen, DM beta chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,544,906...1,551,412
Ensembl chrNW_004955437:1,541,491...1,551,159 		JBrowse link
G LOC102023759 chromosome unknown open reading frame, human C6orf15 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:955,027...956,397
Ensembl chrNW_004955583:955,028...956,411 		JBrowse link
G LOC102023843 HLA class II histocompatibility antigen, DM alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,558,806...1,562,294
Ensembl chrNW_004955437:1,558,911...1,562,162 		JBrowse link
G LOC102023844 chromosome unknown open reading frame, human C6orf89 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:6,087,297...6,124,219
Ensembl chrNW_004955437:6,087,114...6,124,263 		JBrowse link
G LOC102025166 HLA class II histocompatibility antigen, DO alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,603,395...1,606,800
Ensembl chrNW_004955437:1,603,168...1,607,134 		JBrowse link
G LOC102025724 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_004955437:1,644,037...1,657,094
Ensembl chrNW_004955437:1,643,238...1,651,071 		JBrowse link
G LOC102026469 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_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042 		JBrowse link
G LOC102029440 heat shock 70 kDa protein 1-like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:328,193...335,852
Ensembl chrNW_004955437:328,193...335,959 		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_004955437:321,367...325,556
Ensembl chrNW_004955437:320,768...325,810 		JBrowse link
G Lst1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:127,430...129,835 JBrowse link
G Lta lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		JBrowse link
G Ltb lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:120,966...123,973 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_004955437:215,824...218,262
Ensembl chrNW_004955437:216,686...219,694 		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_004955437:220,603...223,636
Ensembl chrNW_004955437:220,428...223,636 		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_004955437:257,942...261,054 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_004955437:254,684...257,284
Ensembl chrNW_004955437:255,257...257,407 		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_004955437:247,408...250,877
Ensembl chrNW_004955437:247,094...250,695 		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_004955437:3,899,988...3,907,781
Ensembl chrNW_004955437:3,899,950...3,909,114 		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_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083 		JBrowse link
G Mln motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,188,719...2,193,102 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_004955437:259,780...264,549
Ensembl chrNW_004955437:262,161...266,148 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:275,976...297,268
Ensembl chrNW_004955437:279,744...297,153 		JBrowse link
G Mtch1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:6,046,033...6,061,086
Ensembl chrNW_004955437:6,045,321...6,061,086 		JBrowse link
G Muc21 mucin 21, cell surface associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:898,164...901,874 JBrowse link
G Mucl3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:880,011...882,770 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_004955437:130,360...134,751 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_004955437:467,018...473,084
Ensembl chrNW_004955437:466,690...473,084 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:90,623...100,918
Ensembl chrNW_004955437:90,577...100,918 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Nudt3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,497,720...2,584,280
Ensembl chrNW_004955437:2,504,429...2,584,280 		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_004955437:2,621,013...2,665,194
Ensembl chrNW_004955437:2,634,056...2,666,098 		JBrowse link
G Pbx2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:648,935...654,008
Ensembl chrNW_004955437:646,906...654,008 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,848,571...1,849,824
Ensembl chrNW_004955437:1,848,571...1,849,824 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,943,049...1,947,027
Ensembl chrNW_004955437:1,943,065...1,946,705 		JBrowse link
G Pi16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:6,066,685...6,075,077
Ensembl chrNW_004955437:6,067,376...6,075,262 		JBrowse link
G Pnpla1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:4,008,814...4,047,895
Ensembl chrNW_004955437:4,008,545...4,048,033 		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_004955583:995,707...1,003,202 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_004955437:3,285,281...3,354,099
Ensembl chrNW_004955437:3,288,830...3,357,048 		JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:6,131,013...6,143,474
Ensembl chrNW_004955437:6,131,013...6,143,529 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:609,901...630,004
Ensembl chrNW_004955437:619,085...630,965 		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_004955437:161,618...176,225
Ensembl chrNW_004955437:163,714...176,517 		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_004955437:614,026...615,177 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_004955466:11,979,482...11,997,952
Ensembl chrNW_004955466:11,979,482...11,997,952 		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_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO 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_004955437:1,500,477...1,504,072
Ensembl chrNW_004955437:1,500,477...1,504,072 		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_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164 		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_004955583:975,037...977,944
Ensembl chrNW_004955583:974,890...976,777 		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_004955437:4,096,740...4,105,794 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_004955437:6,223,281...6,250,068
Ensembl chrNW_004955437:6,220,228...6,246,898 		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_004955437:1,851,005...1,857,567
Ensembl chrNW_004955437:1,851,005...1,856,720 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,782,156...1,785,811
Ensembl chrNW_004955437:1,782,115...1,788,842 		JBrowse link
G Rnf5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:643,133...645,528
Ensembl chrNW_004955437:643,170...645,528 		JBrowse link
G Rpl10a ribosomal protein L10a ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,383,265...3,386,064
Ensembl chrNW_004955437:3,383,265...3,386,064 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,600,219...2,604,821
Ensembl chrNW_004955437:2,600,246...2,604,022 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,833,338...1,838,776
Ensembl chrNW_004955437:1,833,125...1,838,827 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,767,833...1,774,401
Ensembl chrNW_004955437:1,767,833...1,774,401 		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_004955437:297,605...299,242
Ensembl chrNW_004955437:297,644...299,220 		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_004955437:3,178,985...3,213,772
Ensembl chrNW_004955437:3,178,985...3,213,772 		JBrowse link
G Sfta2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:865,226...866,360
Ensembl chrNW_004955583:865,226...866,360 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:473,192...482,811
Ensembl chrNW_004955437:473,192...482,811 		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_004955437:3,741,284...3,811,819 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_004955437:1,774,301...1,778,092
Ensembl chrNW_004955437:1,774,301...1,778,092 		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_004955437:383,523...396,456
Ensembl chrNW_004955437:383,271...397,217 		JBrowse link
G Smim29 small integral membrane protein 29 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:2,486,918...2,489,003
Ensembl chrNW_004955437:2,486,918...2,489,003 		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_004955437:2,770,251...2,830,871
Ensembl chrNW_004955437:2,813,296...2,831,036 		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_004955437:2,667,499...2,679,940
Ensembl chrNW_004955437:2,666,105...2,680,061 		JBrowse link
G Srpk1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,664,290...3,729,832 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_004955437:6,306,151...6,314,332
Ensembl chrNW_004955437:6,306,151...6,314,332 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:485,110...492,493
Ensembl chrNW_004955437:485,110...492,493 		JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:4,142,285...4,186,376
Ensembl chrNW_004955437:4,142,285...4,186,373 		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_004955437:1,950,559...1,981,004
Ensembl chrNW_004955437:1,950,602...1,979,251 		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_004955437:2,908,939...2,916,154
Ensembl chrNW_004955437:2,908,939...2,916,154 		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_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097 		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_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,860,057...1,865,645
Ensembl chrNW_004955437:1,858,328...1,866,233 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955583:989,388...994,180
Ensembl chrNW_004955583:989,388...994,908 		JBrowse link
G Tcp11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,087,733...3,113,771
Ensembl chrNW_004955437:3,088,915...3,188,885 		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_004955437:3,387,812...3,405,232
Ensembl chrNW_004955437:3,387,228...3,405,069 		JBrowse link
G Tnf tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:516,713...561,188
Ensembl chrNW_004955437:511,963...553,856 		JBrowse link
G Tsbp1 testis expressed basic protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:830,178...915,199 JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,405,218...3,417,079 JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:308,709...320,084
Ensembl chrNW_004955437:309,032...318,989 		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_004955583:848,166...862,360
Ensembl chrNW_004955583:848,481...866,424 		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_004955437:1,820,355...1,833,615
Ensembl chrNW_004955437:1,820,817...1,833,363 		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_004955437:299,554...308,609
Ensembl chrNW_004955437:300,753...309,823 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:1,840,875...1,848,258
Ensembl chrNW_004955437:1,840,791...1,848,172 		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_004955437:412,985...415,533
Ensembl chrNW_004955437:412,985...415,533 		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_004955437:1,867,834...1,869,066 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_004955437:1,981,817...1,986,142
Ensembl chrNW_004955437:1,982,248...1,983,672 		JBrowse link
G Znf76 zinc finger protein 76 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955437:3,218,453...3,250,788
Ensembl chrNW_004955437:3,218,453...3,250,788 		JBrowse link
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 6 ClinVar
OMIM		 PMID:33727065 PMID:34819510 NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164 		JBrowse link
proteosome-associated autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:16199547 PMID:20159315 More... NCBI chrNW_004955437:1,500,477...1,504,072
Ensembl chrNW_004955437:1,500,477...1,504,072 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:28492532 NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		JBrowse link
proteosome-associated autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO ClinVar Annotator: match by term: POMP-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004955497:7,978,434...7,996,982
Ensembl chrNW_004955497:7,978,434...7,999,536 		JBrowse link
proteosome-associated autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb4 proteasome 20S subunit beta 4 ISO OMIM NCBI chrNW_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617 		JBrowse link
proteosome-associated autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30664889 NCBI chrNW_004955402:857,228...870,940
Ensembl chrNW_004955402:857,432...869,983 		JBrowse link
proteosome-associated autoinflammatory syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:31783057 PMID:37600812 NCBI chrNW_004955484:8,777,618...8,780,393
Ensembl chrNW_004955484:8,777,621...8,780,320 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    sensory system disease 6527
      skin disease 3831
        Metabolic Skin Diseases 186
          lipodystrophy + 186
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      nervous system disease 12336
        Neurologic Manifestations 9193
          sensory system disease 6527
            skin disease 3831
              Metabolic Skin Diseases 186
                lipodystrophy + 186
                necrobiosis lipoidica 0
paths to the root