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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 chr12:1,511,063...1,525,146
Ensembl chr12:1,511,124...1,525,440 		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 chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
G CAVIN1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy ClinVar NCBI chr16:63,840,693...63,863,162
Ensembl chr16:63,840,859...63,863,296 		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 chr12:1,511,063...1,525,146
Ensembl chr12:1,511,124...1,525,440 		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 chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar PMID:25741868 NCBI chr 1:11,198,347...11,199,952
Ensembl chr 1:11,198,738...11,199,242 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO OMIM:269700 MouseDO NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		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 chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		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 chr12:1,511,063...1,525,146
Ensembl chr12:1,511,124...1,525,440 		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 chr16:63,840,693...63,863,162
Ensembl chr16:63,840,859...63,863,296 		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 chr15:90,905,691...90,944,485 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 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781 		JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:36,604,822...36,630,648
Ensembl chr 6:36,605,126...36,630,376 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G PLIN1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr29:8,204,071...8,219,974
Ensembl chr29:8,202,035...8,215,921 		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 chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr20:92,605,495...92,648,110
Ensembl chr20:92,605,309...92,648,114 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		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 chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		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 chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		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 chr29:8,204,071...8,219,974
Ensembl chr29:8,202,035...8,215,921 		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 chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		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 6:36,604,822...36,630,648
Ensembl chr 6:36,605,126...36,630,376 		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 chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		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 chr 9:104,015,577...104,019,364
Ensembl chr 9:104,016,580...104,017,932 		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 chr 1:10,632,342...10,660,757 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 chr21:35,485,860...35,496,281
Ensembl chr21:35,485,685...35,497,325 		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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060 		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 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr20:92,605,495...92,648,110
Ensembl chr20:92,605,309...92,648,114 		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 chr 2:81,569,659...81,878,047 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 chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		JBrowse link
G INSR insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		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 chr12:1,511,063...1,525,146
Ensembl chr12:1,511,124...1,525,440 		JBrowse link
G ATP6V0D1 ATPase H+ transporting V0 subunit d1 ISO MouseDO NCBI chr 5:59,976,118...60,018,414
Ensembl chr 5:60,002,544...60,017,894 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Lipodystrophy ClinVar PMID:18057387 PMID:25741868 NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:16697654 RGD:1581157 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G EBF1 EBF transcription factor 1 ISO OMIM:608709 MouseDO NCBI chr23:61,097,268...61,502,784
Ensembl chr23:61,109,331...61,243,631 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:24011075 RGD:10401088 NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967 		JBrowse link
G INSR insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G LPIN1 lipin 1 ISO OMIM:608709 MouseDO NCBI chr14:95,777,976...95,926,420
Ensembl chr14:95,780,478...95,926,419 		JBrowse link
G PARP2 poly(ADP-ribose) polymerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21417348 NCBI chr29:20,862,787...20,877,752
Ensembl chr29:20,863,380...20,877,644 		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 chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12913070 PMID:21828285 RGD:10043099 NCBI chr20:92,605,495...92,648,110
Ensembl chr20:92,605,309...92,648,114 		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 chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		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 chr20:92,605,495...92,648,110
Ensembl chr20:92,605,309...92,648,114 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		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 chr17:30,965,091...30,999,073
Ensembl chr17:30,994,357...30,999,087 		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 6:30,816,675...30,820,816
Ensembl chr 6:30,816,678...30,820,597 		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 chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215 		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 chr17:30,965,091...30,999,073
Ensembl chr17:30,994,357...30,999,087 		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 chr11:52,676,890...52,699,337
Ensembl chr11:52,674,602...52,699,294 		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 chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		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 chr17:40,320,749...40,336,922
Ensembl chr17:40,320,878...40,336,720 		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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		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 chr17:39,854,196...39,864,077
Ensembl chr17:39,855,010...39,863,710 		JBrowse link
G AIF1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
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 chr17:37,036,665...37,229,906
Ensembl chr17:37,036,066...37,155,596 		JBrowse link
G APOM apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G ARMC12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,368,789...36,392,119
Ensembl chr17:36,368,832...36,388,749 		JBrowse link
G ATF6B activating transcription factor 6 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,901,226...39,913,702
Ensembl chr17:39,901,226...39,914,142 		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 chr17:40,440,321...40,442,701
Ensembl chr17:40,440,605...40,445,669 		JBrowse link
G B3GALT4 beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,798,224...38,799,910
Ensembl chr17:38,798,496...38,799,644 		JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G BAK1 BCL2 antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,492,776...38,502,534
Ensembl chr17:38,492,858...38,501,281 		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 chr17:37,241,841...37,322,220
Ensembl chr17:37,246,908...37,321,337 		JBrowse link
G BNIP5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,792,013...35,807,059
Ensembl chr17:35,792,115...35,805,471 		JBrowse link
G BRD2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,113,519...39,126,267 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 chr17:35,891,139...35,926,621
Ensembl chr17:35,891,141...35,923,084 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,069,852...40,094,478
Ensembl chr17:40,069,909...40,094,207 		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 chr17:41,319,392...41,334,661
Ensembl chr17:41,319,423...41,334,502 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,352,063...41,359,344 JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CLIC1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,286,051...40,292,377
Ensembl chr17:40,286,491...40,292,113 		JBrowse link
G CLPS colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,320,468...36,322,912
Ensembl chr17:36,320,541...36,322,902 		JBrowse link
G CLPSL1 colipase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,327,877...36,335,320
Ensembl chr17:36,328,030...36,334,959 		JBrowse link
G CLPSL2 colipase like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,336,509...36,339,731
Ensembl chr17:36,336,615...36,339,416 		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 chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		JBrowse link
G CPNE5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,296,046...35,392,450
Ensembl chr17:35,296,196...35,390,970 		JBrowse link
G CSNK2B casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,354,520...40,359,136
Ensembl chr17:40,352,367...40,358,401 		JBrowse link
G CUNH6orf15 chromosome unknown C6orf15 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,361,046...41,364,223
Ensembl chr17:41,361,677...41,362,812 		JBrowse link
G CUNH6orf47 chromosome unknown C6orf47 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G CUNH6orf89 chromosome unknown C6orf89 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,215,797...35,249,769
Ensembl chr17:35,216,916...35,249,624 		JBrowse link
G CUTA cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,648,181...38,649,906
Ensembl chr17:38,648,140...38,649,810 		JBrowse link
G CYP21A2 cytochrome P450 family 21 subfamily A member 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,987,608...39,990,936
Ensembl chr17:39,988,116...40,016,448 		JBrowse link
G DAXX death domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,754,227...38,758,714
Ensembl chr17:38,754,280...38,759,071 		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 chr17:40,292,674...40,295,917
Ensembl chr17:40,292,707...40,295,712 		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 chr17:41,564,271...41,583,404
Ensembl chr17:41,564,992...41,575,682 		JBrowse link
G DDX39B DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,445,258...40,457,379
Ensembl chr17:40,447,061...40,456,826 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,799,402...36,826,731
Ensembl chr17:36,799,370...36,826,405 		JBrowse link
G DXO decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,049,679...40,052,114
Ensembl chr17:40,050,257...40,052,050 		JBrowse link
G EGFL8 EGF like domain multiple 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,864,006...39,867,730
Ensembl chr17:39,864,328...39,876,947 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616 		JBrowse link
G ETV7 ETS variant transcription factor 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,738,065...35,762,131
Ensembl chr17:35,738,919...35,761,666 		JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,659,266...36,671,274 JBrowse link
G FKBP5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,432,595...36,551,233
Ensembl chr17:36,481,024...36,552,456 		JBrowse link
G FKBPL FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,898,926...39,900,760
Ensembl chr17:39,899,687...39,900,733 		JBrowse link
G FLOT1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,714,354...41,725,820
Ensembl chr17:41,714,402...41,725,397 		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 chr17:40,358,652...40,362,734
Ensembl chr17:40,359,961...40,362,547 		JBrowse link
G GPSM3 G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,839,010...39,841,213 JBrowse link
G GRM4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:37,944,462...38,070,105
Ensembl chr17:38,001,325...38,069,461 		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 chr17:41,550,167...41,556,538
Ensembl chr17:41,550,287...41,556,054 		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 chr17:37,848,110...37,857,835
Ensembl chr17:37,849,412...37,853,880 		JBrowse link
G HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,868,307...38,870,564
Ensembl chr17:38,868,685...38,870,459 		JBrowse link
G IER3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,712,539...41,713,895
Ensembl chr17:41,712,528...41,714,126 		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 chr17:37,402,940...37,555,871
Ensembl chr17:37,402,966...37,516,822 		JBrowse link
G IP6K3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,331,107...38,356,590
Ensembl chr17:38,332,601...38,356,828 		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 chr17:38,381,862...38,456,505
Ensembl chr17:38,381,743...38,456,499 		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 chr17:35,647,502...35,688,638
Ensembl chr17:35,644,387...35,668,400 		JBrowse link
G KIFC1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,656,517...38,675,056
Ensembl chr17:38,656,246...38,674,470 		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 chr17:38,291,100...38,309,134
Ensembl chr17:38,291,217...38,307,745 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
G LOC103221743 heat shock 70 kDa protein 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,191,695...40,194,459
Ensembl chr17:40,203,936...40,205,858 		JBrowse link
G LOC103221744 heat shock 70 kDa protein 1-like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,206,365...40,211,996
Ensembl chr17:40,209,754...40,211,676 		JBrowse link
G LOC103221745 heat shock 70 kDa protein 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,203,647...40,206,028
Ensembl chr17:40,203,936...40,205,858 		JBrowse link
G LOC103221756 lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,313,045...40,340,331
Ensembl chr17:40,305,738...40,316,963 		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 chr17:40,214,726...40,226,753
Ensembl chr17:40,214,771...40,226,545 		JBrowse link
G LST1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G LTA lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G LTB lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G LY6G5B lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,352,182...40,354,423 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 chr17:40,342,875...40,348,537
Ensembl chr17:40,344,510...40,348,254 		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 chr17:40,300,918...40,304,891
Ensembl chr17:40,301,880...40,304,464 		JBrowse link
G MAPK13 mitogen-activated protein kinase 13 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,982,749...35,993,956
Ensembl chr17:35,983,430...35,992,468 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138 		JBrowse link
G MCCD1 mitochondrial coiled-coil domain 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,457,370...40,458,659
Ensembl chr17:40,457,665...40,458,569 		JBrowse link
G MHC-DMA HLA class II histocompatibility antigen, DM alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,142,340...39,151,804
Ensembl chr17:39,142,395...39,146,252 		JBrowse link
G MHC-DMB major histocompatibility complex, class II, DM beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,153,744...39,161,029
Ensembl chr17:39,154,850...39,161,090 		JBrowse link
G MHC-DOA major histocompatibility complex, class II, DO alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,084,785...39,090,477
Ensembl chr17:39,085,080...39,090,474 		JBrowse link
G MHC-DOB major histocompatibility complex, class II, DO beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,295,768...39,300,032
Ensembl chr17:39,295,828...39,300,819 		JBrowse link
G MHC-DPA1 major histocompatibility complex, class II, DP alpha 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,009,361...39,017,978 JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
G MHC-DRA major histocompatibility complex, class II, DR alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,623,324...39,628,464
Ensembl chr17:39,622,402...39,629,261 		JBrowse link
G MICB MHC class I polypeptide-related sequence B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,518,365...40,532,637 JBrowse link
G MLN motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,275,784...38,286,662 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 chr17:40,297,946...40,300,442
Ensembl chr17:40,298,473...40,300,174 		JBrowse link
G MSH5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,260,979...40,283,872
Ensembl chr17:40,261,125...40,282,511 		JBrowse link
G MTCH1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,156,085...35,174,480
Ensembl chr17:35,156,285...35,175,980 		JBrowse link
G MUC22 mucin 22 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,438,781...41,458,880
Ensembl chr17:41,439,351...41,457,869 		JBrowse link
G MUCL3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,510,045...41,525,120 JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G NELFE negative elongation factor complex member E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,063,298...40,069,714
Ensembl chr17:40,063,755...40,198,451 		JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,158,530...40,162,254
Ensembl chr17:40,158,679...40,161,723 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,428,001...40,440,386
Ensembl chr17:40,428,222...40,439,433 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		JBrowse link
G NUDT3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:37,696,307...37,804,888
Ensembl chr17:37,696,621...37,803,344 		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 chr17:37,565,059...37,630,637
Ensembl chr17:37,563,714...37,574,063 		JBrowse link
G PBX2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,841,798...39,847,244
Ensembl chr17:39,842,064...39,845,618 		JBrowse link
G PFDN6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,786,556...38,787,913
Ensembl chr17:38,786,045...38,787,613 		JBrowse link
G PHF1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,650,013...38,655,458
Ensembl chr17:38,648,140...38,655,420 		JBrowse link
G PI16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,177,705...35,188,314
Ensembl chr17:35,178,590...35,187,816 		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 chr17:35,808,652...35,854,069
Ensembl chr17:35,814,590...35,851,985 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,306,523...41,313,065 JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,695,546...36,779,554
Ensembl chr17:36,695,494...36,779,577 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,260,471...35,281,367 JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,867,403...39,877,903 JBrowse link
G PRRC2A proline rich coiled-coil 2A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G PRRT1 proline rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,879,600...39,883,173
Ensembl chr17:39,879,710...39,882,308 		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 chr24:35,438,084...35,465,320
Ensembl chr24:35,437,308...35,465,203 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311 		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 chr17:39,260,774...39,264,990
Ensembl chr17:39,260,511...39,265,166 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842 		JBrowse link
G PSORS1C1 psoriasis susceptibility 1 candidate 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G PSORS1C2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,336,262...41,339,413
Ensembl chr17:41,337,779...41,338,992 		JBrowse link
G PXT1 peroxisomal testis enriched protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,724,603...35,736,099 JBrowse link
G RAB44 RAB44, member RAS oncogene family ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,399,866...35,435,599 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 chr17:38,777,719...38,785,829
Ensembl chr17:38,778,859...38,785,984 		JBrowse link
G RING1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,862,411...38,866,631
Ensembl chr17:38,860,729...38,866,371 		JBrowse link
G RNF5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,851,491...39,853,912
Ensembl chr17:39,851,874...39,853,819 		JBrowse link
G RPL10A ribosomal protein L10a ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,655,272...36,657,951
Ensembl chr17:36,653,183...36,658,033 		JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:37,668,265...37,676,789 JBrowse link
G RPS18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,800,532...38,805,005 JBrowse link
G RXRB retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,874,467...38,881,527
Ensembl chr17:38,874,681...38,881,653 		JBrowse link
G SAPCD1 suppressor APC domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,258,684...40,261,092
Ensembl chr17:40,259,121...40,260,597 		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 chr17:36,871,032...36,910,583
Ensembl chr17:36,875,410...36,910,091 		JBrowse link
G SFTA2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,532,014...41,532,998 JBrowse link
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,052,166...40,063,304
Ensembl chr17:40,052,213...40,063,009 		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 chr17:36,097,458...36,175,638
Ensembl chr17:36,103,139...36,175,459 		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 chr17:38,870,726...38,874,334
Ensembl chr17:38,870,609...38,873,909 		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 chr17:40,142,349...40,158,024
Ensembl chr17:40,142,730...40,157,858 		JBrowse link
G SMIM29 small integral membrane protein 29 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:37,845,160...37,847,944
Ensembl chr17:37,846,855...37,847,851 		JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:37,332,697...37,348,968
Ensembl chr17:37,332,687...37,349,133 		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 chr17:37,555,797...37,562,522
Ensembl chr17:37,555,820...37,562,036 		JBrowse link
G SRPK1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,196,763...36,287,166
Ensembl chr17:36,196,898...36,284,900 		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 chr17:35,535,900...35,544,852 JBrowse link
G STK19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,042,264...40,049,983
Ensembl chr17:40,009,273...40,049,936 		JBrowse link
G STK38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:35,587,246...35,641,555
Ensembl chr17:35,587,256...35,642,279 		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 chr17:38,612,777...38,646,382
Ensembl chr17:38,617,679...38,646,192 		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 chr17:37,230,382...37,241,574 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 chr17:39,252,000...39,260,195 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 chr17:39,266,870...39,277,658 JBrowse link
G TAPBP TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,762,934...38,776,247
Ensembl chr17:38,763,206...38,773,768 		JBrowse link
G TCF19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,310,999...41,319,268
Ensembl chr17:41,311,005...41,319,042 		JBrowse link
G TCP11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,865,236...37,008,100
Ensembl chr17:37,003,819...37,009,908 		JBrowse link
G TEAD3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,626,528...36,651,367
Ensembl chr17:36,637,113...36,651,752 		JBrowse link
G TNF tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,919,839...39,988,087
Ensembl chr17:39,919,772...39,986,868 		JBrowse link
G TSBP1 testis expressed basic protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:39,680,157...39,743,399 JBrowse link
G TULP1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,610,749...36,625,590
Ensembl chr17:36,611,171...36,625,279 		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 chr17:38,366,871...38,380,841
Ensembl chr17:38,366,907...38,380,841 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:40,228,217...40,245,366
Ensembl chr17:40,228,938...40,245,287 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:41,537,842...41,550,063
Ensembl chr17:41,534,552...41,549,439 		JBrowse link
G VPS52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,805,072...38,824,526
Ensembl chr17:38,805,355...38,825,383 		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 chr17:40,245,460...40,258,324
Ensembl chr17:40,246,105...40,258,125 		JBrowse link
G WDR46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:38,787,932...38,797,940
Ensembl chr17:38,788,275...38,799,858 		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 chr17:40,119,648...40,123,224 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 chr17:38,759,542...38,762,882
Ensembl chr17:38,760,379...38,762,277 		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 chr17:38,608,905...38,611,914
Ensembl chr17:38,609,944...38,611,365 		JBrowse link
G ZNF76 zinc finger protein 76 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr17:36,828,246...36,865,158
Ensembl chr17:36,828,005...36,865,090 		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 chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842 		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 chr17:39,260,774...39,264,990
Ensembl chr17:39,260,511...39,265,166 		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 chr17:39,266,870...39,277,658 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 chr 3:7,763,937...7,782,724
Ensembl chr 3:7,764,112...7,783,037 		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 chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311 		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 chr18:71,186,831...71,244,071
Ensembl chr18:71,222,100...71,244,587 		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 chr 5:59,502,616...59,505,584
Ensembl chr 5:59,503,246...59,505,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    sensory system disease 6897
      skin disease 4049
        Metabolic Skin Diseases 196
          lipodystrophy + 196
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13212
        Neurologic Manifestations 9795
          sensory system disease 6897
            skin disease 4049
              Metabolic Skin Diseases 196
                lipodystrophy + 196
                necrobiosis lipoidica 0
paths to the root