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.
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
susceptibility
ISO
RGD
PMID:11967537
RGD:1598785
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Atp6v0d1
ATPase H+ transporting V0 subunit D1
ISS
MouseDO
NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CGL2, OMIM:269700, DNA:frameshift:exon ClinVar Annotator: match by term: Lipodystrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:18057387 PMID:25462787 PMID:25741868 PMID:11479539
RGD:1600601
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:16697654
RGD:1581157
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ebf1
EBF transcription factor 1
ISS
OMIM:608709
MouseDO
NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
RGD
PMID:24011075
RGD:10401088
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Insr
insulin receptor
ISO
RGD
PMID:14722613
RGD:1302525
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lmna
lamin A/C
ISO
DNA:missense mutation:cds:p.R482Q, p.R482W (human) ClinVar Annotator: match by term: Lipodystrophy
ClinVar RGD
PMID:12920062 PMID:15060110 PMID:19095983 PMID:19169477 PMID:19589617 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23666920 PMID:24033266 PMID:25327215 PMID:25741868 PMID:26332594 PMID:27498076 PMID:27529282 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29047356 PMID:29253866 PMID:29557732 PMID:29791652 PMID:30123186 PMID:30420677 PMID:30696354 PMID:30847666 PMID:31383942 PMID:31857427 PMID:32041611 PMID:32548202 PMID:32616434 PMID:32685188 PMID:32954377 PMID:33713793 PMID:33803191 PMID:35449878 PMID:35772917 PMID:12524233 More...
RGD:2306123
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Lpin1
lipin 1
ISS
OMIM:608709
MouseDO
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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Parp2
poly (ADP-ribose) polymerase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21417348
NCBI chr15:24,034,069...24,044,340
Ensembl chr15:24,034,106...24,044,338
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770608
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
FPLD3,OMIM:604367;DNA:point mutation:exon:P467L ClinVar Annotator: match by term: Lipodystrophy
ClinVar RGD
PMID:10622252 PMID:12663460 PMID:15254591 PMID:17003330 PMID:22461176 PMID:22539598 PMID:25157153 PMID:25741868 PMID:28492532 PMID:10622252 More...
RGD:1601445
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12913070 PMID:21828285
RGD:10043099
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
ClinVar Annotator: match by term: Congenital generalized lipodystrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:11967537 PMID:12765973 PMID:14557463 PMID:15181077 PMID:19226263 PMID:24498038 PMID:25741868 PMID:31416577 PMID:32280377 PMID:34318892 PMID:19187773 More...
RGD:10047097
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism 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
CTD ClinVar
PMID:1674639 PMID:5964029 PMID:11479539 PMID:12030893 PMID:12362029 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15181077 PMID:15732094 PMID:16427281 PMID:16574104 PMID:16735770 PMID:17387721 PMID:17486577 PMID:17535271 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18585921 PMID:18612770 PMID:18690553 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:19438831 PMID:19762912 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:23564749 PMID:23659685 PMID:23989774 PMID:24345054 PMID:24451228 PMID:24604904 PMID:24778225 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26282322 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:28916377 PMID:29269637 PMID:29478747 PMID:30903322 PMID:31372974 PMID:31475473 PMID:31770241 PMID:31824185 PMID:32320108 PMID:32792356 PMID:34085946 PMID:34942918 PMID:35351089 More...
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Cavin1
caveolae associated protein 1
ISO
ClinVar Annotator: match by term: Congenital generalized lipodystrophy
ClinVar
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO ISS
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 OMIM:608594
OMIM ClinVar MouseDO
PMID:11967537 PMID:12765973 PMID:12826327 PMID:14557463 PMID:14715872 PMID:15181077 PMID:15629135 PMID:18414213 PMID:18640396 PMID:19026526 PMID:21744063 PMID:22831748 PMID:24498038 PMID:25195639 PMID:25741868 PMID:26072926 PMID:26336158 PMID:27144933 PMID:28492532 PMID:30319454 PMID:31416577 PMID:31778856 PMID:32041611 PMID:32117065 PMID:32280377 PMID:34318892 More...
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO ISS
ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 OMIM:269700
OMIM ClinVar MouseDO
PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 PMID:14557463 PMID:15126564 PMID:15181077 PMID:16735770 PMID:17535271 PMID:17576681 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18690553 PMID:19041432 PMID:19226263 PMID:19438831 PMID:19762912 PMID:20301391 PMID:21126715 PMID:23142943 PMID:23564749 PMID:23659685 PMID:23963299 PMID:23989774 PMID:24451228 PMID:24778225 PMID:25588603 PMID:25741868 PMID:26072926 PMID:26282322 PMID:26467025 PMID:27144933 PMID:27612026 PMID:27632409 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31770241 PMID:31824185 PMID:32041611 PMID:32792356 PMID:35351089 More...
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Gng3
G protein subunit gamma 3
ISO
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2
ClinVar
PMID:25741868
NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603
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Pparg
peroxisome proliferator-activated receptor gamma
ISS
OMIM:269700
MouseDO
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3
OMIM CTD ClinVar
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 PMID:29231014 PMID:31727138 PMID:33264630 PMID:34643546 More...
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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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 PMID:28492532 PMID:32041611 PMID:32117065 More...
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Cavin1
caveolae associated protein 1
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:613327 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4
OMIM CTD MouseDO ClinVar
PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31778856 More...
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Pcyt1a
phosphate cytidylyltransferase 1A, choline
ISO
ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 5
OMIM ClinVar
PMID:24889630 PMID:28492532
NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357
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Akt2
AKT serine/threonine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19793595
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19793595
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cidec
cell death-inducing DFFA-like effector c
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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Lipe
lipase E, hormone sensitive type
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism 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 DNA:missense mutations:cds:multiple (human)
CTD ClinVar RGD
PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12075506 PMID:12196663 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12702809 PMID:12716787 PMID:12784312 PMID:12844477 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16241930 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19793595 PMID:19859838 PMID:19875404 PMID:19882644 PMID:19933576 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22918509 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32461654 PMID:32475984 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34240052 PMID:34292171 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35528128 PMID:35533453 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36704457 PMID:37246508 PMID:37652022 PMID:37679847 PMID:10655060 More...
RGD:12791019
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Plin1
perilipin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
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Pparg
peroxisome proliferator-activated receptor gamma
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial partial lipodystrophy
CTD ClinVar MouseDO
PMID:19793595 PMID:21479595 PMID:25741868 PMID:28492532 PMID:28641778 PMID:32041611 PMID:33502018 PMID:34991302 PMID:36397776 More...
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Zmpste24
zinc metallopeptidase STE24
ISS
OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238
MouseDO
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11792811 PMID:11799477 PMID:11897440 PMID:12015247 PMID:12075506 PMID:12196663 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12702809 PMID:12716787 PMID:12729796 PMID:12784312 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15219508 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16636128 PMID:16671095 PMID:16715312 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19169477 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19875404 PMID:19882644 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23062543 PMID:23183350 PMID:23243001 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31293201 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32461654 PMID:32475984 PMID:32517491 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32846814 PMID:32880476 PMID:32939435 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34240052 PMID:34292171 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35384599 PMID:35449878 PMID:35528128 PMID:35533453 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36704457 PMID:37246508 PMID:37652022 PMID:37679847 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy
ClinVar
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 PMID:10690291 PMID:10851250 PMID:11788685 PMID:12453919 PMID:12663460 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15254591 PMID:17003330 PMID:17299075 PMID:17356052 PMID:21479595 PMID:22461176 PMID:22539598 PMID:25157153 PMID:25741868 PMID:27749844 PMID:28492532 PMID:28641778 PMID:32041611 PMID:33502018 PMID:34991302 PMID:36397776 PMID:38951919 More...
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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 PMID:29747582 More...
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
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 chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
G
Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS
ClinVar
PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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 PMID:28492532 PMID:32041611 PMID:35460704 More...
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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 PMID:25898808 PMID:28492532 PMID:34643546 More...
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Adra2a
adrenoceptor alpha 2A
ISO
ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 8
OMIM ClinVar
PMID:27376152
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
G
Plaat3
phospholipase A and acyltransferase 3
ISO
ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 9
OMIM ClinVar
NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
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 chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:12876073
RGD:8694470
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:20331838 PMID:15353983
RGD:8655915 , RGD:8655934
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Mmp1
matrix metallopeptidase 1
ISO
DNA:SNP
RGD
PMID:20852404
RGD:8549721
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
G
Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:liver,serum:
RGD
PMID:19277603
RGD:8657358
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Insr
insulin receptor
ISO
RGD
PMID:14722613
RGD:1302525
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Familial partial lipodystrophy 2
ClinVar RGD
PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12075506 PMID:12196663 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12702809 PMID:12716787 PMID:12784312 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19875404 PMID:19882644 PMID:19933576 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32461654 PMID:32475984 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34240052 PMID:34292171 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35528128 PMID:35533453 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36704457 PMID:37246508 PMID:37652022 PMID:37679847 PMID:12196663 More...
RGD:1580516
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Pold1
DNA polymerase delta 1, catalytic subunit
susceptibility
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 PMID:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26580448 PMID:26648449 PMID:28125075 PMID:28492532 PMID:29056344 PMID:30093976 PMID:30680046 PMID:30827058 PMID:31780696 PMID:32792570 PMID:32885271 PMID:33193653 PMID:33332384 PMID:35264596 More...
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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 DNA:missense mutation:cds:p.R527H (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11897440 PMID:12075506 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12716787 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15770669 PMID:15998779 PMID:16046620 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17334235 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17848409 PMID:17893350 PMID:17935239 PMID:17987279 PMID:18035086 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22918509 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:24943589 PMID:25025039 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25371241 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27199538 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28349240 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30901896 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32456328 PMID:32461654 PMID:32475984 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32818388 PMID:32880476 PMID:33038109 PMID:33258288 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34135346 PMID:34340952 PMID:34495297 PMID:34680903 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35533453 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36704457 PMID:37246508 PMID:37652022 PMID:37679847 PMID:16046620 More...
RGD:12791023
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18554282
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Zmpste24
zinc metallopeptidase STE24
ISO
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 PMID:16297189 PMID:17576681 PMID:18414213 PMID:18435794 PMID:19020898 PMID:19383993 PMID:19504603 PMID:19680556 PMID:20034068 PMID:20635340 PMID:20814950 PMID:21108632 PMID:21831885 PMID:22495976 PMID:22718200 PMID:24169522 PMID:25629449 PMID:25741868 PMID:28492532 More...
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11461921 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24039054 PMID:24161884 PMID:24199744 PMID:24613577 PMID:24665001 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25363768 PMID:25525159 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27087445 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32431097 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35234813 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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 PMID:18546367 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:23870839 PMID:24899047 PMID:24990881 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28559417 PMID:28768830 PMID:29142083 PMID:29557178 PMID:30042649 PMID:30242731 PMID:33969597 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
G
Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO ISS
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:25741868 PMID:27658901 PMID:28492532 PMID:28620717 PMID:31996268 PMID:36133075 More...
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16826530 PMID:22768673 PMID:22995991 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 More...
NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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 PMID:15883308 PMID:19019460 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:24119542 PMID:24139279 PMID:24685331 PMID:24899047 PMID:24990881 PMID:25186855 PMID:25615530 PMID:25741868 PMID:25886450 PMID:27067662 PMID:27084067 PMID:27589997 PMID:27995897 PMID:28376694 PMID:28492532 PMID:28559417 PMID:28620717 PMID:28768830 PMID:29142083 PMID:29557178 PMID:29723869 PMID:30242731 PMID:31217084 PMID:32319261 PMID:32638105 PMID:32894242 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Prim1
DNA primase subunit 1
ISO
ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
ClinVar OMIM
PMID:33060134
NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
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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 PMID:19226263 PMID:19762912 PMID:21126715 PMID:23564749 PMID:24024128 PMID:24451228 PMID:25741868 PMID:26282322 PMID:26467025 PMID:27612026 PMID:27632409 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31770241 PMID:31824185 PMID:32792356 PMID:35351089 More...
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
G
Abhd16a
abhydrolase domain containing 16A, phospholipase
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
G
Ager
advanced glycosylation end product-specific receptor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Agpat1
1-acylglycerol-3-phosphate O-acyltransferase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
G
Aif1
allograft inflammatory factor 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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 chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148
G
Apom
apolipoprotein M
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
G
Armc12
armadillo repeat containing 12
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,587,859...6,598,355
Ensembl chr20:6,587,859...6,598,352
G
Atf6b
activating transcription factor 6 beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,090,921...4,098,920
Ensembl chr20:4,090,921...4,098,894
G
Atp6v1g2
ATPase H+ transporting V1 subunit G2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481
G
B3galt4
Beta-1,3-galactosyltransferase 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315
G
Bag6
BAG cochaperone 6
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
G
Bak1
BCL2-antagonist/killer 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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 chr20:5,910,261...5,954,641
Ensembl chr20:5,910,260...5,952,404
G
Bnip5
BCL2 interacting protein 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,957,736...6,975,062
Ensembl chr20:6,956,201...6,975,091
G
Brd2
bromodomain containing 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
G
Brpf3
bromodomain and PHD finger containing, 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,864,684...6,902,760
Ensembl chr20:6,865,985...6,902,690
G
Btnl2
butyrophilin-like 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
G
C2
complement C2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
G
C20h6orf15
similar to human chromosome 6 open reading frame 15
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886
G
C20h6orf89
similar to human chromosome 6 open reading frame 89
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,322,483...7,362,054
Ensembl chr20:7,322,442...7,357,612
G
C4a
complement C4A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
G
C4b
complement C4B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
G
Cchcr1
coiled-coil alpha-helical rod protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Cdsn
corneodesmosin
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Clic1
chloride intracellular channel 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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Clps
colipase
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689
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Clpsl2
colipase-like 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,608,128...6,610,951
Ensembl chr20:6,608,128...6,610,951
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Cpne5
copine 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,206,742...7,289,309
Ensembl chr20:7,206,742...7,288,883
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Csnk2b
casein kinase 2 beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Cuta
cutA divalent cation tolerance homolog
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552
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Daxx
death-domain associated protein
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Ddah2
DDAH family member 2, ADMA-independent
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511
G
Ddr1
discoidin domain receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Ddx39b
DExD-box helicase 39B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996
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Def6
DEF6 guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961
G
Dxo
decapping exoribonuclease
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,993,322...3,995,484
Ensembl chr20:3,993,327...3,995,494
G
Egfl8
EGF-like-domain, multiple 8
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,132,930...4,136,024
Ensembl chr20:4,133,629...4,136,018
G
Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
G
Fkbp5
FKBP prolyl isomerase 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
G
Fkbpl
FKBP prolyl isomerase like
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,099,845...4,101,315
Ensembl chr20:4,099,806...4,101,368
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Flot1
flotillin 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978
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G4
G4 protein
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,693,691...3,696,194
Ensembl chr20:3,693,649...3,696,088
G
Gpank1
G patch domain and ankyrin repeats 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,697,641...3,700,814
Ensembl chr20:3,697,641...3,700,858
G
Gpsm3
G-protein signaling modulator 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,157,123...4,158,984
Ensembl chr20:4,157,123...4,159,035
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Grm4
glutamate metabotropic receptor 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821
G
Gtf2h4
general transcription factor 2H subunit 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,071,328...3,076,990
Ensembl chr20:3,071,328...3,076,984
G
Hmga1
high mobility group AT-hook 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Hsd17b8
hydroxysteroid (17-beta) dehydrogenase 8
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
G
Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
G
Ier3
immediate early response 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
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 chr20:5,809,931...5,876,197
Ensembl chr20:5,809,936...5,876,012
G
Ip6k3
inositol hexakisphosphate kinase 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,223,863...5,245,443
Ensembl chr20:5,224,120...5,245,428
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 chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
G
Kctd20
potassium channel tetramerization domain containing 20
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,015,828...7,032,766
Ensembl chr20:7,015,833...7,032,761
G
Kifc1
kinesin family member C1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105
G
Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
G
Lhfpl5
LHFPL tetraspan subfamily member 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532
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 chr20:3,843,467...3,847,217
Ensembl chr20:3,843,466...3,847,266
G
Lst1
leukocyte specific transcript 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997
G
Lta
lymphotoxin alpha
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Ltb
lymphotoxin beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
G
Ly6g5b
lymphocyte antigen 6 family member G5B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133
G
Ly6g5c
lymphocyte antigen 6 family member G5C
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,709,426...3,713,940
Ensembl chr20:3,709,529...3,713,608
G
Ly6g6c
lymphocyte antigen 6 family member G6C
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,753,632...3,757,205
Ensembl chr20:3,753,632...3,758,867
G
Ly6g6d
lymphocyte antigen 6 family member G6D
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,741,973...3,752,378
Ensembl chr20:3,737,459...3,752,248
G
Ly6g6f
lymphocyte antigen 6 family member G6F
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,737,459...3,742,327
Ensembl chr20:3,737,459...3,752,248
G
Mapk13
mitogen activated protein kinase 13
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222
G
Mapk14
mitogen activated protein kinase 14
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Micb
MHC class I polypeptide-related sequence B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827
G
Mill1
MHC I like leukocyte 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930
G
Mir219a1
microRNA 219a-1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
G
Mln
motilin
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,304,249...5,308,948
Ensembl chr20:5,304,249...5,308,948
G
Mpig6b
megakaryocyte and platelet inhibitory receptor G6b
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
G
Msh5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
G
Mtch1
mitochondrial carrier 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,389,942...7,413,426
Ensembl chr20:7,389,949...7,413,426
G
Mucl3
mucin like 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
G
Ncr3
natural cytotoxicity triggering receptor 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
G
Nelfe
negative elongation factor complex member E
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
G
Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
G
Nfkbil1
NFKB inhibitor like 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616
G
Notch4
notch receptor 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
G
Nudt3
nudix hydrolase 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,634,345...5,686,950
Ensembl chr20:5,634,349...5,686,874
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 chr20:5,718,134...5,768,064
Ensembl chr20:5,719,857...5,765,313
G
Pbx2
PBX homeobox 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,151,500...4,156,425
Ensembl chr20:4,151,500...4,156,425
G
Pfdn6
prefoldin subunit 6
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433
G
Phf1
PHD finger protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871
G
Pi16
peptidase inhibitor 16
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,376,073...7,385,386
Ensembl chr20:7,376,126...7,385,383
G
Pnpla1
patatin-like phospholipase domain containing 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
G
Pou5f1
POU class 5 homeobox 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
G
Ppard
peroxisome proliferator-activated receptor delta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
G
Ppil1
peptidylprolyl isomerase like 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354
G
Ppt2
palmitoyl-protein thioesterase 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774
G
Prrc2a
proline-rich coiled-coil 2A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130
G
Prrt1
proline-rich transmembrane protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,117,957...4,121,643
Ensembl chr20:4,117,957...4,121,600
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 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
G
Psmb4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:26524591
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
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 PMID:21953331 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 PMID:37600812 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
G
Psmb9
proteasome 20S subunit beta 9
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
G
Pxt1
peroxisomal testis enriched protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,002,270...7,005,296
Ensembl chr20:7,002,271...7,006,780
G
Rab44
RAB44, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,164,576...7,198,473
Ensembl chr20:7,164,720...7,198,468
G
Ralgdsl2
ral guanine nucleotide dissociation stimulator like 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911
G
Ring1
ring finger protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620
G
Rnf5
ring finger protein 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,145,539...4,147,985
Ensembl chr20:4,145,507...4,147,985
G
Rpl10a
ribosomal protein L10A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,388,800...6,391,358
Ensembl chr20:6,385,823...6,391,357
G
Rps10
ribosomal protein S10
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
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Rps18
ribosomal protein S18
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146 Ensembl chr20:101,204,500...101,205,146
G
RT1-B
RT1 class II, locus B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
G
RT1-Ba
RT1 class II, locus Ba
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Da
RT1 class II, locus Da
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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RT1-Db1
RT1 class II, locus Db1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-DMa
RT1 class II, locus DMa
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
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RT1-DMb
RT1 class II, locus DMb
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
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RT1-DOa
RT1 class II, locus DOa
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577
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RT1-DOb
RT1 class II, locus DOb
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,619,418...4,625,627
Ensembl chr20:4,619,816...4,625,667
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RT1-Ha
RT1 class II, locus Ha
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Rxrb
retinoid X receptor beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773
G
Sapcd1
suppressor APC domain containing 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,793,980...3,795,767
Ensembl chr20:3,793,967...3,795,790
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 chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584
G
Sfta2
surfactant associated 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,093,569...3,094,299
Ensembl chr20:3,093,565...3,094,299
G
Skic2
SKI2 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
G
Slc26a8
solute carrier family 26 member 8
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478
G
Slc39a7
solute carrier family 39 member 7
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
G
Slc44a4
solute carrier family 44, member 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215
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Smim29
small integral membrane protein 29
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,618,845...5,620,856
Ensembl chr20:5,618,845...5,620,813
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Snrpc
small nuclear ribonucleoprotein polypeptide C
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
G
Spdef
SAM pointed domain containing ets transcription factor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,771,440...5,785,893
Ensembl chr20:5,771,441...5,785,893
G
Srpk1
SRSF protein kinase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,645,809...6,682,448
Ensembl chr20:6,645,809...6,682,134
G
Srsf3
serine and arginine rich splicing factor 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,091,928...7,101,860
Ensembl chr20:7,091,910...7,101,078
G
Stk19
serine/threonine kinase 19
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116
G
Stk38
serine/threonine kinase 38
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198
G
Syngap1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
G
Taf11
TATA-box binding protein associated factor 11
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,955,774...5,963,593
Ensembl chr20:5,955,777...5,961,905
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 chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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 chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Tapbp
TAP binding protein
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
G
Tcf19
transcription factor 19
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271
G
Tcp11
t-complex 11
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,126,267...6,138,408
Ensembl chr20:6,126,269...6,136,055
G
Tead3
TEA domain transcription factor 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,392,053...6,411,446
Ensembl chr20:6,392,053...6,411,446
G
Tnf
tumor necrosis factor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
G
Tsbp1
testis expressed basic protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,410,002...4,467,284
Ensembl chr20:4,410,004...4,457,053
G
Tulp1
TUB like protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073
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 chr20:5,202,837...5,214,541
Ensembl chr20:5,202,837...5,214,164
G
Vars1
valyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
G
Vars2
valyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
G
Vps52
VPS52 subunit of GARP complex
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665
G
Vwa7
von Willebrand factor A domain containing 7
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,794,991...3,805,646
Ensembl chr20:3,794,991...3,805,525
G
Wdr46
WD repeat domain 46
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535
G
Zbtb12
zinc finger and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,937,668...3,940,514
G
Zbtb22
zinc finger and BTB domain containing 22
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498
G
Zbtb9
zinc finger and BTB domain containing 9
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819
G
Zfp523
zinc finger protein 523
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,234,884...6,266,512
Ensembl chr20:6,243,582...6,266,511
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 chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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 PMID:20534754 PMID:21129723 PMID:21953331 PMID:23662797 PMID:23768303 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 PMID:28895430 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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 chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Pomp
proteasome maturation protein
ISO
ClinVar Annotator: match by term: POMP-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715
G
Psmb4
proteasome 20S subunit beta 4
ISO
OMIM
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
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 chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
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 chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19055
Nutritional and Metabolic Diseases
8519
disease of metabolism
8519
lipid metabolism disorder
1899
lipodystrophy
201
HIV-Associated Lipodystrophy Syndrome
6
Keppen-Lubinsky Syndrome
1
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules
0
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
1
Marfan Lipodystrophy Syndrome
1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
1
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
2
Progressive Encephalopathy, with or without Lipodystrophy
1
complete generalized lipodystrophy +
7
lipoatrophic diabetes mellitus +
3
mandibuloacral dysplasia type A lipodystrophy
2
mandibuloacral dysplasia type B lipodystrophy
1
partial lipodystrophy +
14
proteosome-associated autoinflammatory syndrome +
164
Path 2
disease
19055
Pathological Conditions, Signs and Symptoms
13533
Signs and Symptoms
11086
Neurologic Manifestations
10337
sensory system disease
7249
skin disease
4187
Metabolic Skin Diseases
201
lipodystrophy
201
HIV-Associated Lipodystrophy Syndrome
6
Keppen-Lubinsky Syndrome
1
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules
0
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
1
Marfan Lipodystrophy Syndrome
1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
1
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
2
Progressive Encephalopathy, with or without Lipodystrophy
1
complete generalized lipodystrophy +
7
lipoatrophic diabetes mellitus +
3
mandibuloacral dysplasia type A lipodystrophy
2
mandibuloacral dysplasia type B lipodystrophy
1
partial lipodystrophy +
14
proteosome-associated autoinflammatory syndrome +
164