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: Hypoproteinemia
Accession: DOID:9002513
browse the term
Definition: A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA.
Synonyms: exact_synonym: Hypoproteinemias
xref: MESH:D007019
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Alb
albumin
susceptibility
ISO IAGP
RGD
PMID:7937781 PMID:1690892
RGD:1599028 , RGD:734959
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Apoa1
apolipoprotein A1
IDA
RGD
PMID:2123716
RGD:1599161
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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B2m
beta-2 microglobulin
susceptibility
ISO
RGD
PMID:16549777
RGD:1599429
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Gh1
growth hormone 1
treatment
ISO
associated with Liver Cirrhosis
RGD
PMID:11986720
RGD:11352738
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Lipc
lipase C, hepatic type
IAGP
protein:reduced expression:plasma (rat)
RGD
PMID:10844597
RGD:2308785
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Rps6kb1
ribosomal protein S6 kinase B1
IDA
associated with Liver Cirrhosis, Experimental
RGD
PMID:16169275
RGD:1643028
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Alb
albumin
ISO
ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad
OMIM ClinVar
PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 PMID:12028999 PMID:15300429 PMID:15996651 PMID:16183048 PMID:17952464 PMID:18459107 PMID:18602380 PMID:18791744 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29981851 More...
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aptx
aprataxin
susceptibility
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: DNA:missense mutation:cds:p.V320G(human) DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM ClinVar CTD RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17049295 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:30609409 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863 PMID:21465257 PMID:17572444 PMID:12196655 More...
RGD:10054301 , RGD:10054300 , RGD:1599207
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
ClinVar
PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 PMID:31041400 PMID:31167812 PMID:32504494 PMID:35426160 More...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ClinVar
PMID:32488064
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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A2m
alpha-2-macroglobulin
IEP
protein:increased expression:serum
RGD
PMID:9453001
RGD:10046046
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Alb
albumin
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10337936 PMID:9034259
RGD:11035279
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Gh1
growth hormone 1
treatment
ISO
associated with Sepsis
RGD
PMID:10923500
RGD:11352734
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15044820
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15044820
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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