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: Cachexia
Accession: DOID:9007346
browse the term
Definition: General ill health, malnutrition, and weight loss, usually associated with chronic disease.
Synonyms: primary_id: MESH:D002100
G
Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
IEP
associated with hepatocellular carcinoma
RGD
PMID:23200745
RGD:13782066
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
G
Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IEP
associated with hepatocellular carcinoma
RGD
PMID:23200745
RGD:13782066
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
G
Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
associated with gastrointestinal system cancer;mRNA,protein:increased expression:subcutaneous adipose tissue:
RGD
PMID:21245862
RGD:153350145
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
G
Bard1
BRCA1 associated RING domain 1
IEP
associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle
RGD
PMID:16685375
RGD:2315732
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
G
Cd27
CD27 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
G
Cdh6
cadherin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr 2:62,079,139...62,225,298
Ensembl chr 2:62,079,137...62,225,228
G
Cebpb
CCAAT/enhancer binding protein beta
treatment
ISO
RGD
PMID:27122162
RGD:40903021
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
G
Coq7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
G
Ddx42
DEAD-box helicase 42
IEP ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat) associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse)
RGD
PMID:14718385 PMID:14718385
RGD:1641826 , RGD:1641826
NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939
G
Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30782979
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
G
Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:17347304 PMID:12576449
RGD:7242556
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
G
Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30782979
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Il1b
interleukin 1 beta
IDA
associated with Inflammation
RGD
PMID:15005009
RGD:1626680
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
IDA
associated with Inflammation
RGD
PMID:15005009
RGD:1626680
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il6
interleukin 6
IEP ISO
associated with Leukemia, T-Cell;protein:increased activity:plasma (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17878525 PMID:9110147
RGD:11062106
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Jak2
Janus kinase 2
treatment
ISO
associated with colon adenocarcinoma
RGD
PMID:28489606
RGD:127285673
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Lpin1
lipin 1
IEP
associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle
RGD
PMID:14718385
RGD:1641826
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
G
Lta
lymphotoxin alpha
susceptibility
ISO
associated with Breast Neoplasms;DNA:polymorphism:intron:252G>A (human)
RGD
PMID:18953879
RGD:8548798
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
IMP
associated with Pulmonary Arterial Hypertension
RGD
PMID:30554141
RGD:155791671
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
G
Mc4r
melanocortin 4 receptor
ISO
associated with Myocardial Infarction
RGD
PMID:20371568
RGD:6484229
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
G
Mstn
myostatin
IEP
associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle
RGD
PMID:18578694
RGD:2303552
NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933
G
Myd88
MYD88, innate immune signal transduction adaptor
ameliorates
ISO
associated with Carcinoma, Lewis Lung
RGD
PMID:31138662
RGD:150530282
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Parl
presenilin associated, rhomboid-like
ISO
RGD
PMID:16839884
RGD:12902627
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA:decreased expression:skeletal muscle (human)
RGD
PMID:17459894
RGD:5683621
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
G
Slc25a4
solute carrier family 25 member 4
IEP
associated with hepatocellular carcinoma
RGD
PMID:23200745
RGD:13782066
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
G
Tfam
transcription factor A, mitochondrial
ISO
associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle (human)
RGD
PMID:17459894
RGD:5683621
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
G
Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:2054795
RGD:7394820
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnf
tumor necrosis factor
ISO IEP
CTD Direct Evidence: marker/mechanism associated with hepatocellular carcinoma;mRNA:altered expression:skeletal muscle tissue, adipose tissue (rat)
CTD RGD
PMID:17878525 PMID:16077938
RGD:1624190
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
IEP ISO
associated with Carcinoma, Hepatocellular;protein, mRNA:increased expression:skeletal muscle, adipose tissue CTD Direct Evidence: therapeutic
CTD RGD
PMID:18801959 PMID:16077938
RGD:1624190
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Zfp36
zinc finger protein 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12756304 PMID:15944294
NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all