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: Weight Loss
Accession: DOID:9001981
browse the term
Definition: Decrease in existing BODY WEIGHT.
Synonyms: exact_synonym: Weight Losses; Weight Reduction; Weight Reductions
primary_id: MESH:D015431
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33007385
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
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Ace2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33007385
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230824
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26526685
NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,270...13,332,802
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34848246
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901
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Alpk1
alpha-kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542954
NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:218,780,189...218,921,646
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24431404 PMID:35362542
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022
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Atg5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26568842
NCBI chr20:49,380,835...49,471,826
Ensembl chr20:49,380,813...49,471,821
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Atg7
autophagy related 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26568842
NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38761876
NCBI chr16:76,654,725...76,726,092
Ensembl chr16:76,653,660...76,728,801
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Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28411859
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292
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Cln6
CLN6, transmembrane ER protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23789114
NCBI chr 8:72,198,773...72,213,777
Ensembl chr 8:72,198,712...72,213,776
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31570772 PMID:32365865
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:27611972 PMID:30102254
NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:153,409,147...153,435,961
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26070417 PMID:29908986
NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627
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Crh
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8986836
NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:38348709
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8260696
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725
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Fst
follistatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33034787
NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:47,856,345...47,863,491
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7711889
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859
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Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24431404
NCBI chr15:46,147,878...46,152,086
Ensembl chr15:46,148,301...46,148,977 Ensembl chr15:46,148,301...46,148,977
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Hdac3
histone deacetylase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34973135
NCBI chr18:30,021,847...30,041,061
Ensembl chr18:30,021,941...30,041,025
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:38866309
NCBI chr10:81,405,021...81,447,814
Ensembl chr10:81,404,797...81,447,846
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:24314293 PMID:27580383
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24314293
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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Ins1
insulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29682576 PMID:34352274
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22940631 PMID:29211853
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27417254
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661
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Lif
LIF, interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291613
NCBI chr14:83,354,602...83,364,053
Ensembl chr14:83,358,164...83,364,053
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Lrrk2
leucine-rich repeat kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31174552
NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:124,706,080...124,867,239
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24587916
NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:119,878,344...119,901,189
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Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24556215
NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108
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Mt1a
metallothionein 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24163136
NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200 Ensembl chr X:79,695,809...79,696,200 Ensembl chr19:79,695,809...79,696,200
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Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37352108
NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:94,767,986...94,772,186
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25825358
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310
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Otud7b
OTU deubiquitinase 7B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:36639017
NCBI chr 2:186,350,811...186,411,461
Ensembl chr 2:186,350,798...186,409,440
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18562099
NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1459535 PMID:11193135
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
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Sirt4
sirtuin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:35134463
NCBI chr12:46,785,852...46,800,179
Ensembl chr12:46,791,898...46,800,173
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Snca
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32278788
NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24163136 PMID:29434186
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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Tes
testin LIM domain protein
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:39237074
NCBI chr 4:46,331,257...46,369,782
Ensembl chr 4:46,331,257...46,369,780
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Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28726298
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31442584
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tsc22d3
TSC22 domain family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:109,006,410...109,066,389
Ensembl chr X:109,006,420...109,015,519
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Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
IEP
associated with hepatocellular carcinoma
RGD
PMID:23200745
RGD:13782066
NCBI chr 1:190,457,198...190,475,410
Ensembl chr 1:190,457,198...190,475,423
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IEP
associated with hepatocellular carcinoma
RGD
PMID:23200745
RGD:13782066
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:39,733,458...39,782,934
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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 chr12:22,044,685...22,051,248
Ensembl chr12:22,044,751...22,053,020
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Bard1
BRCA1 associated RING domain 1
IEP
associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle
RGD
PMID:16685375
RGD:2315732
NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:80,069,960...80,176,873
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Cd27
CD27 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:159,716,935...159,721,823
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Cdh6
cadherin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr 2:63,801,630...63,952,309
Ensembl chr 2:63,806,135...63,952,287
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Cebpb
CCAAT/enhancer binding protein beta
treatment
ISO
RGD
PMID:27122162
RGD:40903021
NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:176,816,859...176,838,072
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Coq7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chr 1:182,270,570...182,285,959
Ensembl chr 1:182,269,399...182,285,508
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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 chr10:91,648,719...91,680,730
Ensembl chr10:91,648,248...91,680,729
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Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30782979
NCBI chr16:18,838,436...18,842,022
Ensembl chr16:18,838,436...18,842,022
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:17347304 PMID:12576449
RGD:7242556
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:148,421,315...148,425,969
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30782979
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
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Il1b
interleukin 1 beta
IDA
associated with Inflammation
RGD
PMID:15005009
RGD:1626680
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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Il1rn
interleukin 1 receptor antagonist
IDA
associated with Inflammation
RGD
PMID:15005009
RGD:1626680
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
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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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Jak2
Janus kinase 2
treatment
ISO
associated with colon adenocarcinoma
RGD
PMID:28489606
RGD:127285673
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
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Lpin1
lipin 1
IEP
associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle
RGD
PMID:14718385
RGD:1641826
NCBI chr 6:45,039,110...45,145,845
Ensembl chr 6:45,041,522...45,145,991
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Lta
lymphotoxin alpha
susceptibility
ISO
associated with Breast Neoplasms;DNA:polymorphism:intron:252G>A (human)
RGD
PMID:18953879
RGD:8548798
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
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Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
IMP
associated with Pulmonary Arterial Hypertension
RGD
PMID:30554141
RGD:155791671
NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012
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Mc4r
melanocortin 4 receptor
ISO
associated with Myocardial Infarction
RGD
PMID:20371568
RGD:6484229
NCBI chr18:62,689,798...62,691,685
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Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Cachexia
ClinVar
PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 PMID:11464238 PMID:11977178 PMID:15018633 PMID:15024744 PMID:16730661 PMID:17489852 PMID:19253030 PMID:19934083 PMID:20041150 PMID:20534143 PMID:21153919 PMID:21246368 PMID:21413889 PMID:21978701 PMID:22614345 PMID:22903357 PMID:23505242 PMID:23588594 PMID:23907647 PMID:23981758 PMID:24251727 PMID:24469716 PMID:24929125 PMID:25615955 PMID:25741868 PMID:26078663 PMID:28492532 PMID:29047407 PMID:29543225 PMID:29599418 PMID:31989427 PMID:32312770 PMID:32853466 PMID:33733382 PMID:34426522 PMID:35098403 More...
NCBI chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333
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Mstn
myostatin
IEP
associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle
RGD
PMID:18578694
RGD:2303552
NCBI chr 9:55,944,513...55,950,913
Ensembl chr 9:55,944,513...55,950,913
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Myd88
MYD88, innate immune signal transduction adaptor
ameliorates
ISO
associated with Carcinoma, Lewis Lung
RGD
PMID:31138662
RGD:150530282
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
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Parl
presenilin associated, rhomboid-like
ISO
RGD
PMID:16839884
RGD:12902627
NCBI chr11:94,097,559...94,124,915
Ensembl chr11:94,097,934...94,148,287
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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 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878525
NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454
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Slc25a4
solute carrier family 25 member 4
IEP
associated with hepatocellular carcinoma
RGD
PMID:23200745
RGD:13782066
NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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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 chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:2054795
RGD:7394820
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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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 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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Zfp36
zinc finger protein 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12756304 PMID:15944294
NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:92,796,628...92,799,108
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Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313956
NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:152,094,658...152,103,313
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