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: Necrosis
Accession: DOID:9005749
browse the term
Definition: The pathological process occurring in cells that are dying from irreparable injuries. It is caused by the progressive, uncontrolled action of degradative ENZYMES, leading to MITOCHONDRIAL SWELLING, nuclear flocculation, and cell lysis. It is distinct it from APOPTOSIS, which is a normal, regulated cellular process.
Synonyms: exact_synonym: Necroses
primary_id: MESH:D009336
alt_id: RDO:0005338
xref: EFO:0009426
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Abcc8
ATP binding cassette subfamily C member 8
IMP
associated with Spinal Cord Injuries
RGD
PMID:17657312
RGD:2301913
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1535655 PMID:12606818
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25831079
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16532269
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Angpt2
angiopoietin 2
IEP
mRNA:increased expression:liver, stellate cell, macrophage (rat)
RGD
PMID:15135347
RGD:2314239
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21839817
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23424623
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Atf4
activating transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14604972
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Atg5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20578144
NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Atg7
autophagy related 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21081844
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11781163 PMID:16532269
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23211037
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Cast
calpastatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17323976
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9548797 PMID:17309078
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccn2
cellular communication network factor 2
IEP
mRNA:increased expression:brain (rat)
RGD
PMID:19395590
RGD:2314511
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295117
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdc42
cell division cycle 42
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19430526
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Ctf1
cardiotrophin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23335628
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Ctsb
cathepsin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Cyp2b1
cytochrome P450, family 2, subfamily b, polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11332993
NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12086689 PMID:12566070
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22795790
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dpp7
dipeptidylpeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16725115
NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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Epo
erythropoietin
treatment
ISO
associated with Ischemia
RGD
PMID:22924373
RGD:8655615
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Fabp3
fatty acid binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18308699
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15664267
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15664267
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24699334
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
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Fgf2
fibroblast growth factor 2
treatment
ISO
associated with Ischemia
RGD
PMID:22924373
RGD:8655615
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25725130
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gatm
glycine amidinotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22061828
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14710442
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Havcr1
hepatitis A virus cellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880025
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783637 PMID:22178603
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10903806 PMID:10909967
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24949944
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10631206 PMID:10903806 PMID:10909967
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1838896 PMID:20644519
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7608651
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins1
insulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9826672
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Krt18
keratin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783637
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lgals3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461450
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10533957
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34648132
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21619552
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir192
microRNA 192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880025
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14723717
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21214410
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24813929
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10620138 PMID:10909967
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30996006
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7608651
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18547651
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Puf60
poly-U binding splicing factor 60
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21435101
NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531
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Rbp4
retinol binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22061828
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Rdh13
retinol dehydrogenase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27865848
NCBI chr 1:69,373,014...69,401,454
Ensembl chr 1:69,373,113...69,400,908
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Set
Set nuclear proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24555657
NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19144690
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9548797
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9548797 PMID:19293248
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11529661
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sparc
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23408952
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Tbxa2r
thromboxane A2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22206755
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10631206 PMID:10909967 PMID:22345571 PMID:24548419
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17848144
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Nek9
NIMA-related kinase 9
ISO
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy
OMIM ClinVar
PMID:25741868 PMID:26633546 PMID:28492532
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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Col1a1
collagen type I alpha 1 chain
treatment
ISO
associated with Multiple Myeloma
RGD
PMID:21396799
RGD:11041182
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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A2m
alpha-2-macroglobulin
IEP
mRNA:increased expression:head of femur
RGD
PMID:20579363
RGD:10046018
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human)
RGD
PMID:28422712
RGD:401901196
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Cat
catalase
susceptibility
ISO
DNA:SNPs:multiple:
RGD
PMID:18353692
RGD:9479160
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Col2a1
collagen type II alpha 1 chain
ISO IEP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 mRNA:increased expression:head of femur
OMIM CTD ClinVar RGD
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:15930420 PMID:17078022 PMID:17347327 PMID:17394019 PMID:18272325 PMID:18276201 PMID:19344236 PMID:21671384 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:25809783 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29750297 PMID:20579363 More...
RGD:10046018
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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F2
coagulation factor II, thrombin
ISO
associated with kidney transplantation;20210G>A(human)
RGD
PMID:16968732
RGD:6902907
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F5
coagulation factor V
ISO
associated with kidney transplantation;1691G>A(human)
RGD
PMID:16968732
RGD:6902907
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Gstm1
glutathione S-transferase mu 1
ISO
associated with sickle cell anemia;
RGD
PMID:23590899
RGD:10450838
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with sickle cell anemia;
RGD
PMID:23590899
RGD:10450838
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
RGD
PMID:26261616
RGD:11087286
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il23r
interleukin 23 receptor
susceptibility
ISO
associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human)
RGD
PMID:28422712
RGD:401901196
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Lrp5
LDL receptor related protein 5
treatment
IEP
RGD
PMID:24510055
RGD:12793062
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Mia
MIA SH3 domain containing
IEP
mRNA:increased expression:head of femur
RGD
PMID:20579363
RGD:10046018
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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Mir23a
microRNA 23a
ameliorates
IMP
RGD
PMID:29039554
RGD:155882564
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Alcohol-Related Disorders;DNA:SNPs,haplotype::rs743506,rs3918184 (human)
RGD
PMID:28422712
RGD:401901196
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Plat
plasminogen activator, tissue type
ISO
DNA:insertion:intron:IVS8 (human)
RGD
PMID:24025446
RGD:11541046
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4326745
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Tfpi
tissue factor pathway inhibitor
susceptibility
ISO IEP
DNA:haplotype: : protein:increased expression:femur head:
RGD
PMID:18695356 PMID:23063054
RGD:11060260 , RGD:11062059
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4056805 PMID:8179305 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:39033378 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15135374
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Epas1
endothelial PAS domain protein 1
IEP
RGD
PMID:12911537
RGD:10395384
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
RGD
PMID:12911537
RGD:10395384
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Notch3
notch receptor 3
TAS
RGD
PMID:11925448
RGD:632418
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Polr2a
RNA polymerase II subunit A
IEP
RGD
PMID:22535878
RGD:9681722
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:718334
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans
OMIM CTD ClinVar
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:15930420 PMID:17078022 PMID:17347327 PMID:17394019 PMID:18272325 PMID:18276201 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:25809783 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29750297 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Legg-Calve-Perthes disease
ClinVar
PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Anxa2
annexin A2
ISO
RGD
PMID:15784727
RGD:1578382
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19070762
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human)
RGD
PMID:9840906
RGD:10449417
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Plg
plasminogen
ISO
associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)
RGD
PMID:16547717 PMID:16677567
RGD:30309948 , RGD:30309951
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)
RGD
PMID:16547717 PMID:16677567
RGD:30309948 , RGD:30309951
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Serpinc1
serpin family C member 1
ISO
associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)
RGD
PMID:16677567 PMID:16547717
RGD:30309951 , RGD:30309948
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Vwf
von Willebrand factor
ISO
associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)
RGD
PMID:16547717
RGD:30309948
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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