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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
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Accession:DOID:9005749 term browser 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



show annotations for term's descendants           Sort by:
Necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Femur Head Necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... RGD:10046018 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Infarction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Legg-Calve-Perthes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G 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 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link
osteonecrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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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Term paths to the root
Path 1
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  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Necrosis 95
          DNA Degradation, Necrotic 0
          Fat Necrosis + 0
          Infarction + 6
          dental pulp necrosis 0
          gangrene 0
          osteonecrosis + 28
paths to the root