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: abdominal obesity-metabolic syndrome
Accession: DOID:0060611
browse the term
Definition: A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO)
Synonyms: primary_id: MESH:C535554
xref: OMIM:PS605552
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CTF1
cardiotrophin 1
ISO
MouseDO
NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396
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LEP
leptin
ISO
MouseDO
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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NEIL1
nei like DNA glycosylase 1
ISO
MouseDO
NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
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PPARA
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
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PPARG
peroxisome proliferator activated receptor gamma
ISO
MouseDO
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PRKCI
protein kinase C iota
ISO
MouseDO
NCBI chr13:108,913,018...108,997,934
Ensembl chr13:108,913,173...108,997,931
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SIRT3
sirtuin 3
ISO
MouseDO
NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
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SLC2A9
solute carrier family 2 member 9
ISO
MouseDO
NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:30172001
RGD:13792561
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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LEP
leptin
ISO
OMIM:605552
MouseDO
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LPL
lipoprotein lipase
treatment
ISO
RGD
PMID:26996629
RGD:13794382
NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
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MTTP
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388
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TLR2
toll like receptor 2
susceptibility
ISO
RGD
PMID:19841034
RGD:15090861
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TP53INP1
tumor protein p53 inducible nuclear protein 1
ISO
OMIM:605552
MouseDO
NCBI chr 4:41,747,654...41,766,688
Ensembl chr 4:41,747,654...41,766,685
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AHDC1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar
PMID:25741868 PMID:29696776 PMID:33644933
NCBI chr 6:84,735,253...84,774,554
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DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:25741909 PMID:28492532 PMID:32041611 More...
NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514
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