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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
 primary_id: MESH:D012875;   RDO:0006013


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 chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		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 chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G CAVIN1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy ClinVar NCBI chr 9:20,511,079...20,525,973
Ensembl chr 9:20,511,089...20,524,794 		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 chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		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 chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar PMID:25741868 NCBI chr18:53,958,798...53,960,363
Ensembl chr18:53,958,804...53,960,284 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO OMIM:269700 MouseDO NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		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 chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		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:12826327 PMID:14557463 PMID:25741868 PMID:26336158 More... NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		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 chr 9:20,511,079...20,525,973
Ensembl chr 9:20,511,089...20,524,794 		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 chr33:29,363,282...29,414,635
Ensembl chr33:29,358,452...29,430,424 		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 chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461 		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 chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G PLIN1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:52,657,178...52,670,573
Ensembl chr 3:52,658,427...52,671,196 		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 chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160 		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:2733290 PMID:9500556 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		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 chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		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 chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		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 chr 3:52,657,178...52,670,573
Ensembl chr 3:52,658,427...52,671,196 		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 chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		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 chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461 		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 chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		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 chr28:22,366,989...22,392,163
Ensembl chr28:22,367,780...22,370,684 		JBrowse link
Familial Partial Lipodystrophy Type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAAT3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 9 OMIM
ClinVar		 NCBI chr18:53,367,441...53,412,165
Ensembl chr18:53,368,030...53,398,290 		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 chr14:36,523,707...36,532,180
Ensembl chr14:36,523,707...36,532,291 		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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521 		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 chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160 		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 chr31:32,752,585...33,010,999
Ensembl chr31:32,755,899...32,934,478 		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 protein:increased expression:liver,serum: RGD PMID:19277603 RGD:8657358 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698 		JBrowse link
G INSR insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy 2 ClinVar PMID:262236 PMID:2007407 PMID:2733290 PMID:9500556 PMID:9536098 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		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 chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		JBrowse link
G ATP6V0D1 ATPase H+ transporting V0 subunit d1 ISO MouseDO NCBI chr 5:81,926,589...81,965,959
Ensembl chr 5:81,926,612...81,965,526 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Lipodystrophy ClinVar PMID:18057387 PMID:25741868 NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:16697654 RGD:1581157 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G EBF1 EBF transcription factor 1 ISO OMIM:608709 MouseDO NCBI chr 4:51,378,314...51,765,768
Ensembl chr 4:51,379,233...51,763,035 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:24011075 RGD:10401088 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		JBrowse link
G INSR insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		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 chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LPIN1 lipin 1 ISO OMIM:608709 MouseDO NCBI chr17:8,348,860...8,480,447
Ensembl chr17:8,348,886...8,478,863 		JBrowse link
G PARP2 poly(ADP-ribose) polymerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21417348 NCBI chr15:17,705,966...17,716,743
Ensembl chr15:17,705,975...17,716,094 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		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 chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12913070 PMID:21828285 RGD:10043099 NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160 		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 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		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 chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		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: Lipodystrophy, type B, associated with mandibuloacral dysplasia | 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 chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160 		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 chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
Nasu-Hakola disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREML1 triggering receptor expressed on myeloid cells like 1 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 chr12:9,915,692...9,928,322
Ensembl chr12:9,915,677...9,928,174 		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 chr 1:116,757,271...116,760,453
Ensembl chr 1:116,757,289...116,772,325 		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 chr20:56,652,183...56,663,476
Ensembl chr20:56,652,750...56,670,278 		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 TREML1 triggering receptor expressed on myeloid cells like 1 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM
ClinVar		 PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 More... NCBI chr12:9,915,692...9,928,322
Ensembl chr12:9,915,677...9,928,174 		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 chr10:951,888...975,966 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:16735770 PMID:18093937 PMID:18690553 PMID:19226263 More... NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		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 chr12:1,167,723...1,182,520
Ensembl chr12:1,167,721...1,182,453 		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 chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		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 chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962 		JBrowse link
G AIF1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177 		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 chr12:4,095,394...4,274,428
Ensembl chr12:4,095,490...4,272,654 		JBrowse link
G APOM apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,137,474...1,142,337
Ensembl chr12:1,140,316...1,142,331 		JBrowse link
G ARMC12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,868,831...4,879,801
Ensembl chr12:4,869,774...4,879,793 		JBrowse link
G ATF6B activating transcription factor 6 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,515,186...1,525,165
Ensembl chr12:1,515,503...1,525,110 		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 chr12:1,046,109...1,049,839
Ensembl chr12:1,046,732...1,050,103 		JBrowse link
G B3GALT4 beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,719,112...2,720,997 JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,126,730...1,141,978
Ensembl chr12:1,126,732...1,137,896 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018 		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 chr12:4,027,333...4,087,988
Ensembl chr12:4,027,455...4,089,578 		JBrowse link
G BNIP5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,425,779...5,440,328
Ensembl chr12:5,427,740...5,447,073 		JBrowse link
G BRD2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029 		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 chr12:5,315,228...5,346,328
Ensembl chr12:5,310,617...5,350,055 		JBrowse link
G BTNL2 butyrophilin like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124 		JBrowse link
G C12H6orf15 chromosome 12 C6orf15 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:815,319...817,444
Ensembl chr12:815,483...816,767 		JBrowse link
G C12H6orf47 chromosome 12 C6orf47 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,142,457...1,144,929
Ensembl chr12:1,143,216...1,144,079 		JBrowse link
G C12H6orf89 chromosome 12 C6orf89 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,942,409...5,984,571
Ensembl chr12:5,942,510...5,979,279 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728 		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 chr12:842,093...855,014
Ensembl chr12:837,993...854,978 		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 chr12:837,986...840,490
Ensembl chr12:837,993...854,978 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:819,488...824,015
Ensembl chr12:820,467...823,986 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CLIC1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,209,777...1,215,229
Ensembl chr12:1,209,780...1,215,229 		JBrowse link
G CLPS colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,911,551...4,913,620
Ensembl chr12:4,911,549...4,914,427 		JBrowse link
G CLPSL2 colipase like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,897,181...4,899,657
Ensembl chr12:4,897,221...4,899,544 		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 chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G CPNE5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,812,460...5,902,467
Ensembl chr12:5,811,503...5,910,343 		JBrowse link
G CSNK2B casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,149,467...1,154,417
Ensembl chr12:1,149,548...1,154,418 		JBrowse link
G CUTA cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,827,510...2,829,151
Ensembl chr12:2,823,512...2,829,433 		JBrowse link
G CYP21A2 cytochrome P450c21 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,450,677...1,453,700
Ensembl chr12:1,450,677...1,453,734 		JBrowse link
G DAXX death domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340 		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 chr12:1,206,180...1,209,459
Ensembl chr12:1,206,309...1,208,389 		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 chr12:653,800...671,190
Ensembl chr12:653,807...670,543 		JBrowse link
G DDX39B DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,032,377...1,044,465
Ensembl chr12:1,032,368...1,044,492 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,463,512...4,483,544
Ensembl chr12:4,463,913...4,483,556 		JBrowse link
G DLA-DMB major histocompatibility complex, class II, DM beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,503,325...2,508,380
Ensembl chr12:2,503,325...2,533,990 		JBrowse link
G DLA-DOA HLA class II histocompatibility antigen, DO alpha chain-like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,563,673...2,568,328
Ensembl chr12:2,563,673...2,568,328 		JBrowse link
G DLA-DOB major histocompatibility complex, class II, DO beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,376,957...2,384,179
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G DLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,221,181...2,227,600
Ensembl chr12:2,221,137...2,227,600 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRA MHC class II DR alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975 		JBrowse link
G DLA88 MHC class I DLA-88 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G DXO decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,424,584...1,426,275
Ensembl chr12:1,424,591...1,426,452 		JBrowse link
G EGFL8 EGF like domain multiple 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,558,069...1,561,566
Ensembl chr12:1,559,384...1,561,580 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584 		JBrowse link
G ETV7 ETS variant transcription factor 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,477,632...5,500,402
Ensembl chr12:5,477,077...5,500,717 		JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405 		JBrowse link
G FKBP5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,724,668...4,833,691
Ensembl chr12:4,727,497...4,833,323 		JBrowse link
G FKBPL FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,525,638...1,527,309
Ensembl chr12:1,525,662...1,526,711 		JBrowse link
G FLOT1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:517,941...528,677
Ensembl chr12:516,032...528,637 		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 chr12:1,146,339...1,150,055
Ensembl chr12:1,146,376...1,148,566 		JBrowse link
G GPSM3 G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,583,438...1,585,677
Ensembl chr12:1,583,431...1,585,484 		JBrowse link
G GRM4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,346,395...3,459,722
Ensembl chr12:3,346,395...3,459,878 		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 chr12:675,960...681,504
Ensembl chr12:675,983...681,425 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,151,409...2,164,564 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 chr12:3,528,818...3,538,533
Ensembl chr12:3,533,102...3,538,533 		JBrowse link
G HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,667,674...2,669,918
Ensembl chr12:2,663,515...2,669,917 		JBrowse link
G HSP70 heat shock protein 70 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,285,282...1,287,670 JBrowse link
G IER3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:529,002...530,328
Ensembl chr12:529,339...530,232 		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 chr12:3,861,063...3,955,356
Ensembl chr12:3,862,477...3,955,348 		JBrowse link
G IP6K3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,072,052...3,095,659
Ensembl chr12:3,072,975...3,086,057 		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 chr12:2,970,613...3,050,254
Ensembl chr12:2,805,187...3,048,938 		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 chr12:5,552,563...5,589,844
Ensembl chr12:5,552,812...5,587,328 		JBrowse link
G KIFC1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,808,374...2,821,203
Ensembl chr12:2,808,705...2,821,217 		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 chr12:3,114,175...3,131,779
Ensembl chr12:3,115,460...3,131,919 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413 		JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662 		JBrowse link
G LOC474850 heat shock 70 kDa protein 1-like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440 		JBrowse link
G LOC481722 complement C4-A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,433,185...1,448,056 JBrowse link
G LOC488436 serine/threonine-protein kinase 19-like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr36:27,227,496...27,228,457 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 chr12:1,270,328...1,279,269 JBrowse link
G LST1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,084,739...1,086,182 JBrowse link
G LTA lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G LTB lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,079,340...1,084,785
Ensembl chr12:1,079,358...1,081,153 		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 chr12:1,154,568...1,156,973
Ensembl chr12:1,155,288...1,156,336 		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 chr12:1,159,598...1,163,526
Ensembl chr12:1,159,598...1,163,526 		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 chr12:1,197,828...1,201,660
Ensembl chr12:1,198,301...1,201,102 		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 chr12:1,193,030...1,197,094
Ensembl chr12:1,193,379...1,197,838 		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 chr12:1,185,592...1,189,757 JBrowse link
G MAPK13 mitogen-activated protein kinase 13 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,239,783...5,248,197
Ensembl chr12:5,239,750...5,248,196 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603 		JBrowse link
G MCCD1 mitochondrial coiled-coil domain 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,031,139...1,032,183
Ensembl chr12:1,031,148...1,032,052 		JBrowse link
G MICA MHC class I polypeptide-related sequence A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G MLN motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,137,408...3,147,566
Ensembl chr12:3,137,422...3,146,836 		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 chr12:1,202,297...1,205,867
Ensembl chr12:1,202,721...1,204,655 		JBrowse link
G MSH5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,221,278...1,243,042 JBrowse link
G MTCH1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:6,033,915...6,047,881
Ensembl chr12:6,033,921...6,050,993 		JBrowse link
G MUC21 mucin 21, cell surface associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:735,342...780,044 JBrowse link
G MUCL3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:700,313...715,625 JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,086,698...1,104,268
Ensembl chr12:1,086,841...1,089,481 		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 chr12:1,406,411...1,412,387
Ensembl chr12:1,406,271...1,412,324 		JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,048,393...1,057,458
Ensembl chr12:1,049,109...1,057,237 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760 		JBrowse link
G NUDT3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,559,347...3,687,026
Ensembl chr12:3,567,206...3,687,026 		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 chr12:3,754,075...3,811,717
Ensembl chr12:3,753,717...3,809,986 		JBrowse link
G PBX2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,577,639...1,582,609
Ensembl chr12:1,578,707...1,584,688 		JBrowse link
G PFDN6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,729,562...2,730,858
Ensembl chr12:2,729,562...2,737,163 		JBrowse link
G PHF1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,822,372...2,827,406
Ensembl chr12:2,822,295...2,827,413 		JBrowse link
G PI16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:6,017,312...6,027,048
Ensembl chr12:6,017,522...6,026,307 		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 chr12:5,377,430...5,423,556
Ensembl chr12:5,377,430...5,423,556 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G PPARD peroxisome proliferator activated receptor delta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,492,867...4,579,340
Ensembl chr12:4,492,672...4,579,340 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,916,524...5,936,276
Ensembl chr12:5,917,228...5,942,943 		JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,549,148...1,557,924
Ensembl chr12:1,550,719...1,557,939 		JBrowse link
G PRRC2A proline rich coiled-coil 2A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,110,627...1,125,535
Ensembl chr12:1,112,614...1,125,443 		JBrowse link
G PRRT1 proline rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,545,384...1,549,015
Ensembl chr12:1,542,789...1,548,964 		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 chr 8:33,616,735...33,642,434
Ensembl chr 8:33,616,480...33,642,404 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594 		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 chr12:2,419,456...2,422,832
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069 		JBrowse link
G PXT1 peroxisomal testis enriched protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,503,260...5,531,370
Ensembl chr12:5,503,214...5,530,267 		JBrowse link
G RAB44 RAB44, member RAS oncogene family ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,769,056...5,804,963
Ensembl chr12:5,770,882...5,804,949 		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 chr12:2,731,366...2,739,141
Ensembl chr12:2,731,983...2,739,032 		JBrowse link
G RING1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,671,578...2,675,488
Ensembl chr12:2,671,578...2,675,488 		JBrowse link
G RNF5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,571,277...1,575,151
Ensembl chr12:1,571,420...1,573,506 		JBrowse link
G RPL10A ribosomal protein L10a ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,601,760...4,604,142
Ensembl chr12:4,601,766...4,604,220 		JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780 		JBrowse link
G RPS18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,712,958...2,718,657
Ensembl chr12:2,712,952...2,718,663 		JBrowse link
G RXRB retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,657,058...2,663,648
Ensembl chr12:2,657,792...2,663,706 		JBrowse link
G SAPCD1 suppressor APC domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,243,489...1,245,476
Ensembl chr12:1,243,974...1,245,429 		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 chr12:4,383,649...4,420,844
Ensembl chr12:4,382,916...4,418,300 		JBrowse link
G SFTA2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:697,708...698,732
Ensembl chr12:697,710...698,685 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,412,407...1,424,521
Ensembl chr12:1,412,540...1,424,526 		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 chr12:5,059,267...5,145,387
Ensembl chr12:5,060,306...5,135,677 		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 chr12:2,663,807...2,667,527
Ensembl chr12:2,663,515...2,669,917 		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 chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778 		JBrowse link
G SMIM29 small integral membrane protein 29 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,538,756...3,541,344 JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,996,483...4,010,904
Ensembl chr12:3,996,520...4,010,889 		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 chr12:3,814,806...3,831,724
Ensembl chr12:3,815,300...3,831,477 		JBrowse link
G SRPK1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,941,292...5,029,580
Ensembl chr12:4,917,297...5,030,255 		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 chr12:5,677,879...5,686,220
Ensembl chr12:5,677,907...5,684,446 		JBrowse link
G STK38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:5,594,090...5,636,581
Ensembl chr12:5,595,840...5,636,692 		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 chr12:2,829,274...2,862,888
Ensembl chr12:2,829,306...2,851,432 		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 chr12:4,088,203...4,095,300
Ensembl chr12:4,088,680...4,094,125 		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 chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303 		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 chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TAPBP TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,740,276...2,751,808
Ensembl chr12:2,740,276...2,751,808 		JBrowse link
G TCF19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:855,321...859,109
Ensembl chr12:854,611...858,582 		JBrowse link
G TCP11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,286,863...4,306,152
Ensembl chr12:4,286,876...4,306,273 		JBrowse link
G TEAD3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,610,663...4,627,817
Ensembl chr12:4,611,144...4,632,888 		JBrowse link
G TNF tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749 		JBrowse link
G TSBP1 testis expressed basic protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,749,856...1,920,630 JBrowse link
G TULP1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,632,580...4,644,313
Ensembl chr12:4,633,098...4,645,994 		JBrowse link
G UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:3,050,329...3,063,831
Ensembl chr12:3,050,329...3,063,801 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:1,254,954...1,269,242
Ensembl chr12:1,254,952...1,269,208 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:681,638...694,154
Ensembl chr12:680,484...693,913 		JBrowse link
G VPS52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,697,508...2,712,831
Ensembl chr12:2,697,508...2,712,831 		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 chr12:1,246,055...1,254,829
Ensembl chr12:1,245,105...1,254,272 		JBrowse link
G WDR46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:2,721,262...2,729,365
Ensembl chr12:2,720,658...2,729,394 		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 chr12:1,356,604...1,359,700
Ensembl chr12:1,356,823...1,358,202 		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 chr12:2,751,959...2,755,629
Ensembl chr12:2,752,533...2,754,524 		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 chr12:2,863,709...2,866,565
Ensembl chr12:2,864,105...2,865,604 		JBrowse link
G ZNF76 zinc finger protein 76 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr12:4,427,059...4,462,168
Ensembl chr12:4,427,054...4,639,988 		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:16199547 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 More... NCBI chr12:2,419,456...2,422,832
Ensembl chr12:2,378,126...2,432,303 		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 chr25:11,064,065...11,080,878 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 chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594 		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 chr 7:78,092,877...78,112,831
Ensembl chr 7:78,092,876...78,112,702 		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 NCBI chr 5:81,560,750...81,563,571
Ensembl chr 5:81,561,056...81,563,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 6611
      skin disease 3760
        Metabolic Skin Diseases 198
          lipodystrophy + 198
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      nervous system disease 13239
        Neurologic Manifestations 9586
          sensory system disease 6611
            skin disease 3760
              Metabolic Skin Diseases 198
                lipodystrophy + 198
                necrobiosis lipoidica 0
paths to the root