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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:hepatitis C
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Accession:DOID:1883 term browser browse the term
Definition:A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)
Synonyms:exact_synonym: NANBH;   PT-NANBH;   chronic hepatitis C;   hepatitis C infection;   hepatitis nonA nonB;   parenterally transmitted non A, non B hepatitis;   parenterally-transmitted viral hepatitis, non-A, non-B;   viral hepatitis C
 related_synonym: HCV, resistance to;   HCV, susceptibility to;   hepatitis C virus infection, response to therapy of;   hepatitis C virus, resistance to;   hepatitis C virus, susceptibility to
 xref: EFO:0003047;   ICD10CM:B19.20;   ICD9CM:070.7;   MESH:D006526;   MIM:609532;   MONDO:0005231;   NCI:C3098
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein treatment ISO RGD PMID:25914481 RGD:126790581 NCBI chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		JBrowse link
G APOA1 apolipoprotein A1 severity ISO associated with liver cirrhosis; protein:decreased expression:serum (human) RGD PMID:19818291 RGD:25671441 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G C1QC complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) RGD PMID:27304910 RGD:14401735 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association
susceptibility		 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: HCV, RESISTANCE TO		 RGD
OMIM
ClinVar		 PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:14401731 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD209 CD209 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968 		JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:dendritic cell RGD PMID:20513078 RGD:41410799 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CD81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,625,736...1,641,663 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 disease_progression
treatment		 ISO protein:increased expression:serum RGD PMID:18775023 PMID:24668726 PMID:25512630 RGD:27095893 RGD:27095943 RGD:27095945 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:blood serum (human) RGD PMID:28163109 RGD:150521548 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:28129465 RGD:40818432 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17414718 RGD:38456005 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G GRAP2 GRB2 related adaptor protein 2 severity ISO DNA:SNP:intron: (human) RGD PMID:15063762 RGD:126790487 NCBI chr 5:8,372,920...8,445,128
Ensembl chr 5:8,375,762...8,445,068 		JBrowse link
G HFE homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865084 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 resistance ISO RGD PMID:21756311 RGD:5147491 NCBI chr13:196,925,731...196,951,398
Ensembl chr13:196,925,734...196,952,239 		JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of ClinVar
OMIM		 PMID:17215375 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 no_association ISO DNA:SNPs: :rs1800896 (human)
DNA:SNPs: :multiple
protein:increased expression:serum		 RGD PMID:19302182 PMID:28340949 RGD:14975144 RGD:2308942 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL12A interleukin 12A disease_progression
susceptibility		 ISO associated with diabetes mellitus;
DNA:SNP:3'UTR: rs568408( G>A)(human)		 RGD PMID:27819525 PMID:30243010 RGD:25440490 RGD:25440502 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078 		JBrowse link
G IL13 interleukin 13 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)		 RGD PMID:17553896 RGD:40400745 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL18 interleukin 18 disease_progression
susceptibility
treatment		 ISO DNA:SNPs:promoter:-607C>A, -137G>C(human)
DNA:SNP:promoter:-607C>A (rs1946518)(human)
DNA:SNPs:promoter:-137G>C,-607C>A(human)
protein:increased expression:serum:		 RGD PMID:18781864 PMID:19455410 PMID:21984735 PMID:26486291 PMID:27927859 RGD:14695527 RGD:14695530 RGD:14696653 RGD:14696654 RGD:14696657 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL28B interleukin 28B (interferon, lambda 3) disease_progression
treatment		 ISO associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human)
associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human)		 RGD
OMIM		 PMID:24522196 PMID:25864220 RGD:11528544 RGD:11528545 NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,595...47,953,467 		JBrowse link
G IL29 interleukin 29 (interferon, lambda 1) ISO DNA:missense mutation, haplotype:exon (rs30461) (human) RGD PMID:24269996 RGD:126848746 NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233 		JBrowse link
G IL4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-589C>T (human)
protein:decreased expression:serum		 RGD PMID:28368861 RGD:14696680 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 no_association ISO DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human)
DNA:SNPs: :multiple		 RGD PMID:28340949 RGD:14975144 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRF5 interferon regulatory factor 5 treatment ISO mRNA:increased expression:liver RGD PMID:27942586 PMID:28259968 RGD:40924562 RGD:40924642 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640 		JBrowse link
G ITPA inosine triphosphatase disease_progression ISO DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) RGD PMID:24519039 RGD:10766473 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 disease_progression ISO mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)		 RGD PMID:26518141 PMID:27091211 RGD:11553576 RGD:40818300 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192 		JBrowse link
G KRT8 keratin 8 ISO ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to ClinVar PMID:11372009 PMID:15090596 PMID:15235035 PMID:25741868 PMID:28492532 More... NCBI chr 5:18,172,423...18,180,277
Ensembl chr 5:18,167,553...18,180,404 		JBrowse link
G LDLR low density lipoprotein receptor disease_progression ISO DNA:polymorphisms:exon, 3' utr (human) RGD PMID:12209363 RGD:5490246 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LOC100523789 NKG2-A/NKG2-B type II integral membrane protein disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer c RGD PMID:17553896 RGD:40400745 NCBI chr 5:61,621,869...61,633,693 JBrowse link
G LOC102161030 interferon lambda-4 disease_progression
severity
treatment		 ISO associated with Beta-Thalassemia;DNA:SNPs:5'utr : (rs8099917, rs12979860, rs4803221) (human)
in females;DNA:SNP:5'utr: (rs12979860)
DNA:frameshift mutation:5'utr: (rs368234815) (human)
associated with inherited blood coagulation disease;DNA:SNP:intron: (rs12979860) (human)		 RGD PMID:24522196 PMID:25864220 PMID:25883387 PMID:26032235 PMID:29866411 RGD:11098891 RGD:11528544 RGD:11528545 RGD:40400753 RGD:40886287 NCBI chr 6:47,946,679...47,948,710 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO associated with Glomerulonephritis; protein:increased expression:serum (human) RGD PMID:21623661 RGD:7175316
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704 		JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: therapeutic CTD PMID:17517063 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP:exon:
DNA:SNPs, haplotype:promoter, exon:		 RGD PMID:19703233 PMID:20570631 RGD:14696815 RGD:14696832 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MIR181C microRNA mir-181c ISO miRNA:decreased expression:liver (human) RGD PMID:24789793 RGD:15042895 NCBI chr 2:65,279,950...65,280,036
Ensembl chr 2:65,279,944...65,280,040 		JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RNA:increased expression:liver RGD PMID:20625373 PMID:30938910 RGD:41404662 RGD:41404667 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO mRNA:decreased expression:liver (human) RGD PMID:23157389 RGD:126925755 NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA,protein:increased expression:liver RGD PMID:23108410 RGD:14695017 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 7:23,713,333...23,716,988 JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO DNA:deletion:promoter: (rs28362491) (human) RGD PMID:30056167 RGD:40902826 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12937158 PMID:17299060 NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443 		JBrowse link
G PDCD1 programmed cell death 1 disease_progression ISO DNA:SNP:3' UTR:rs10204525(human) RGD PMID:25747035 RGD:11052797 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates ISO RGD PMID:23903655 RGD:150429630 NCBI chr18:50,563,130...50,566,857 JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO ClinVar Annotator: match by term: HCV, SUSCEPTIBILITY TO ClinVar PMID:25741868 PMID:26915675 PMID:28492532 NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308 		JBrowse link
G PTX3 pentraxin 3 severity ISO protein:increased expression:plasma (human) RGD PMID:26400151 RGD:11554449 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569 		JBrowse link
G RIGI RNA sensor RIG-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) RGD PMID:24317272 RGD:149735572 NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878 		JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr14:28,301,421...28,393,568
Ensembl chr14:28,301,294...28,393,568 		JBrowse link
G SLA-8 MHC class I antigen 8 ISO RGD PMID:19775370 RGD:5144114 NCBI chr 7:23,622,352...23,625,818 JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:24634940 RGD:14696782 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TLR3 toll like receptor 3 severity
susceptibility
disease_progression		 ISO associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human)
DNA:SNP:cds:p.Leu412Phe(human)
associated with glomerulonephritis;mRNA:increased expression:liver:
DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human)		 RGD PMID:21623661 PMID:23240626 PMID:27101936 PMID:29947302 RGD:21079422 RGD:21079429 RGD:21079437 RGD:7175316 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291 		JBrowse link
G TLR7 toll like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:9,573,178...9,576,987 JBrowse link
G TLR8 toll like receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:9,551,284...9,616,762
Ensembl chr  X:9,597,604...9,616,757 		JBrowse link
G TLR9 toll like receptor 9 susceptibility ISO associated with psoriasis;mRNA:increased expession:skin (human)
associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human)		 RGD PMID:27184185 PMID:28062211 RGD:18337466 RGD:18337479 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ISO protein:increased expression:plasma RGD PMID:27328755 RGD:126925974 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796 		JBrowse link
Chronic Hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 severity ISO DNA:SNP:introns:(rs3890182, rs1883025) (human) RGD PMID:28164591 RGD:21066337 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility
treatment		 ISO DNA:SNP::2677G>T/A(rs2032582)(human)
DNA:SNP: :3435C>T(human)		 RGD PMID:26922556 PMID:29155127 RGD:11574565 RGD:14700907 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 susceptibility
treatment
disease_progression		 ISO DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)
DNA:SNP:cds:c.1331T>C (rs2287622)(human)		 RGD PMID:22681771 PMID:29091211 PMID:29755014 RGD:14402415 RGD:14402416 RGD:14402417 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ACE angiotensin I converting enzyme treatment ISO protein:decreased expression:serum (human) RGD PMID:17106926 PMID:27147779 PMID:29641775 RGD:25671451 RGD:25671456 RGD:40400711 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ADAR adenosine deaminase RNA specific treatment
disease_progression
no_association		 ISO DNA:snps, haplotype: (rs7515339, rs903323) (human)
DNA:silent mutation:CDS:p.V849V (rs1127309) (human)
associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
DNA:SNP:exon: (rs1127309) (human)		 RGD PMID:17979507 PMID:19434718 PMID:26911666 PMID:29906476 RGD:11554370 RGD:125097513 RGD:125097514 RGD:38599150 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:26293833 RGD:14401718 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO mRNA:increased expression:B cell
mRNA:increased expression:peripheral blood mononuclear cell (human)
mRNA, protein:increased expression:B cell, CD19-positive (human)		 RGD PMID:20189883 PMID:26219420 PMID:26946048 RGD:30296664 RGD:32716369 RGD:32716380 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G ANG angiogenin ISO RGD PMID:21848603 RGD:6892709 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
G APOE apolipoprotein E severity ISO DNA:polymorphism:exon: RGD PMID:12143056 RGD:7495764 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G AURKA aurora kinase A ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr17:56,954,838...56,972,435 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO RNA:increased expression:liver: RGD PMID:24429361 RGD:14975280 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity
disease_progression
treatment		 ISO DNA:polymorphism:promoter:-403G>A(human)
DNA:SNP: :rs3817656(human)
mRNA:increased expression:liver:
DNA:SNPs,haplotype: :		 RGD PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961 RGD:14995332 RGD:14995334 RGD:14995336 RGD:14995340 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression
treatment		 ISO DNA:deletion:cds: RGD PMID:12055576 PMID:12873822 RGD:14401729 RGD:14401737 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:26554542 RGD:149735574 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD209 CD209 molecule ISO DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human) RGD PMID:27348632 RGD:39939007 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968 		JBrowse link
G CD226 CD226 molecule treatment ISO RGD PMID:21695691 RGD:40818295 NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845 		JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:18086898 RGD:41410796 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CLDN1 claudin 1 susceptibility ISO mRNA:decreased expression:liver (human)
associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations		 RGD PMID:19674288 PMID:21412800 RGD:25330352 RGD:26884350 NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,777...127,730,657 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO mRNA, protein:decreased expression:liver hepatocytes RGD PMID:15685545 RGD:5683635 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO RGD PMID:22333691 RGD:6482311 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) RGD PMID:12696006 RGD:14398739 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:31127759 RGD:27095949 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment ISO RGD PMID:21554996 RGD:150521553 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 severity ISO DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) RGD PMID:21145801 RGD:25671413 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO protein:increased expression:serum: RGD PMID:10435724 RGD:11353781 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642 		JBrowse link
G FOXP3 forkhead box P3 ISO RGD PMID:18673437 RGD:38548921 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr 6:37,625,428...37,669,695
Ensembl chr 6:37,625,436...37,669,663 		JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) RGD PMID:25605587 RGD:39939081 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473 		JBrowse link
G IGF2 insulin like growth factor 2 severity ISO DNA:SNPs, haplotype:multiple RGD PMID:16750516 RGD:14401723 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL10 interleukin 10 no_association
susceptibility
treatment		 ISO DNA:SNP:promoter:-592C>A (rs1800872) (human)
DNA:SNP:promoter: rs3021094, rs3024498 (human)
protein:increased expression:serum:
DNA:polymorphism:promoter:		 RGD PMID:25708446 PMID:26095186 PMID:29247709 RGD:14700655 RGD:14975141 RGD:38456002 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL12B interleukin 12B severity ISO DNA:SNP:3' utr:+1188A>C (human) RGD PMID:15871664 RGD:14401721 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929 		JBrowse link
G IL17D interleukin 17D severity ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) RGD PMID:27875997 RGD:40903073 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G IL18 interleukin 18 treatment
disease_progression		 ISO DNA:SNP:promoter:-607C>A (rs1946518)(human) RGD PMID:19740312 PMID:25198668 RGD:14696651 RGD:14696656 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:12673448 RGD:14807336 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL21 interleukin 21 ameliorates ISO protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) RGD PMID:24170093 RGD:127285373 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713 		JBrowse link
G IL27 interleukin 27 ameliorates ISO DNA:SNP:promoter:-964A>G (rs153109) (human) RGD PMID:27221901 RGD:126790538 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G IL28B interleukin 28B (interferon, lambda 3) treatment
disease_progression
susceptibility		 ISO DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human)
associated with Hemoglobinopathies:DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human)
DNA:SNP: :rs8099917 (human)
DNA:SNP:3' utr: (rs4803217) (human)
DNA:SNP:5'utr: (rs12979860) (human)
DNA:SNP:enhancer: (rs8099917) (human)
DNA:SNP:enhancer: (rs12979860,rs8099917) (human)
DNA:SNP:enhancer: (rs12979860) (human)
DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human)		 RGD PMID:21615377 PMID:23730840 PMID:24355007 PMID:24376784 PMID:24646752 More... RGD:10766476 RGD:11096670 RGD:11344289 RGD:11528556 RGD:14398733 RGD:14398740 RGD:40400891 RGD:40822824 RGD:40886277 RGD:40886281 RGD:40886290 RGD:40886292 NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,595...47,953,467 		JBrowse link
G IL29 interleukin 29 (interferon, lambda 1) ameliorates ISO mRNA,protein:increased expression:liver, blood serum (human)
protein:increased expression:blood serum (human)
protein:altered expression:blood serum (human)		 RGD PMID:21145813 PMID:23071503 PMID:30926417 RGD:126848741 RGD:126848747 RGD:126848749 NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233 		JBrowse link
G IL4 interleukin 4 treatment ISO associated with factor VIII deficiency;protein:increased expression:serum:
DNA:SNPs:promoter:-590C>T,-33T>C (human)		 RGD PMID:22594992 PMID:23591975 PMID:25708446 RGD:14696678 RGD:14696686 RGD:38456002 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 treatment ISO DNA:SNPs:promoter:rs1800795 (human) RGD PMID:27812403 RGD:14975294 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18221819 NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment
disease_progression		 ISO protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
protein:decreased expression:liver,natural killer cell (human)		 RGD PMID:21168454 PMID:25148254 PMID:25965701 RGD:39018562 RGD:40400738 RGD:40813739 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192 		JBrowse link
G KRT18 keratin 18 disease_progression
severity		 ISO protein:increased expression:serum (human)
protein:increased degradation:serum (human)
protein:increased expression:liver, serum (human)		 RGD PMID:19333204 PMID:22404726 PMID:23820504 PMID:30839434 RGD:18337481 RGD:18337493 RGD:18337496 RGD:18337500 NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,221,429 		JBrowse link
G KRT8 keratin 8 ISO protein:increased phosphorylation:liver (human) RGD PMID:15368451 RGD:14401583 NCBI chr 5:18,172,423...18,180,277
Ensembl chr 5:18,167,553...18,180,404 		JBrowse link
G LEP leptin ISO protein:altered localization:serum (human) RGD PMID:11336170 RGD:21201249 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LEPR leptin receptor ISO mRNA:altered expression:liver, peripheral blood mononuclear cell RGD PMID:17060687 RGD:21079470 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LGALS3 galectin 3 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951 		JBrowse link
G LOC100523789 NKG2-A/NKG2-B type II integral membrane protein treatment ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:16322112 PMID:20550548 PMID:31218578 RGD:40400920 RGD:40818079 RGD:40818296 NCBI chr 5:61,621,869...61,633,693 JBrowse link
G LOC102161030 interferon lambda-4 disease_progression
treatment
susceptibility
severity		 ISO DNA:SNP, haplotype:intron: (rs12979860) (human)
DNA:SNPs:intron: (rs12979860, ss469415590) (human)
DNA:SNP:5'utr: (rs12979860) (human)
DNA:SNP:: (ss469415590) (human)
DNA:frameshift mutation: (ss469415590) (human)
DNA:SNP: (ss469415590) (human)
associated with HIV Seropositivity; DNA:SNP:exon 1: c.65_66delAAinsC, p. Glu22AlafsTer25 (rs368234815) (human)
DNA:frameshift mutation:exon 1: (ss469415590) (human)
associated with HIV Seropositivity;DNA:SNP,frameshift mutation:5'utr: (rs12979860,ss469415590)(human)
DNA:SNP,haplotype,frameshift mutation:5'utr: (rs4803221,ss469415590)(human)
DNA:SNP:5'utr: (rs368234815) (human)		 RGD PMID:21615377 PMID:24072198 PMID:24355007 PMID:24362944 PMID:24367041 More... RGD:11096670 RGD:11097003 RGD:11098666 RGD:11344289 RGD:11528556 RGD:14398733 RGD:40400891 RGD:40400911 RGD:40400915 RGD:40400918 RGD:40822809 RGD:40822814 RGD:40822815 RGD:40822824 RGD:40886277 RGD:40886285 RGD:40886288 RGD:40886290 RGD:40886292 RGD:40886295 RGD:40886298 RGD:40886302 NCBI chr 6:47,946,679...47,948,710 JBrowse link
G MBL2 mannose binding lectin 2 treatment ISO DNA:SNPs:promoter,exon:
DNA:haplotype:promoter, exon:		 RGD PMID:18336595 PMID:25956563 RGD:11076743 RGD:14696820 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MIR107 microRNA mir-107 ISO RNA:decreased expression:liver: RGD PMID:24429361 RGD:14975280 NCBI chr14:101,420,743...101,420,829
Ensembl chr14:101,420,743...101,420,829 		JBrowse link
G MIR122 microRNA mir-122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:serum
associated with rheumatoid arthritis		 RGD PMID:29575671 PMID:30852102 RGD:21079478 RGD:21403686 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G MX1 MX dynamin like GTPase 1 treatment
exacerbates		 ISO DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
DNA:SNPs:promoter: (rs2071430, rs17000900) (human)		 RGD PMID:25239021 PMID:29271328 RGD:11067846 RGD:126777679 NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression
treatment		 ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:liver, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)		 RGD PMID:16322112 PMID:20550548 PMID:21168454 PMID:21695691 PMID:23813131 More... RGD:40400738 RGD:40400920 RGD:40813739 RGD:40818079 RGD:40818295 RGD:40818296 RGD:40818297 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 disease_progression
treatment		 ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)		 RGD PMID:16322112 PMID:20550548 PMID:21168454 PMID:21695691 PMID:23813131 RGD:40400738 RGD:40818079 RGD:40818295 RGD:40818296 RGD:40818297 NCBI chr 7:23,713,333...23,716,988 JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 disease_progression ISO DNA:insertion:promoter: -94insATTG (rs28362491) (human) RGD PMID:26827631 RGD:11572306 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:19628656 RGD:6483809 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO mRNA, protein:decreased expression:liver hepatocytes
associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)		 RGD PMID:15685545 RGD:5683635 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G PRDX5 peroxiredoxin 5 ISO mRNA:decreased expression:liver, blood (human) RGD PMID:32103340 RGD:41404682 NCBI chr 2:7,798,672...7,801,955
Ensembl chr 2:7,798,670...7,802,952 		JBrowse link
G PRF1 perforin 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25148254 RGD:40813739 NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 disease_progression ISO DNA:polymorphisms, haplotype:promoter (human) RGD PMID:14960532 RGD:5684961 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility ISO associated with alexithymia;DNA:haplotypes, multiple: RGD PMID:26609890 RGD:11352995 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378 		JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29924446 RGD:21066342 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SPP1 secreted phosphoprotein 1 treatment ISO DNA:SNPs:promoter:-443C>T, -1748G>A (human) RGD PMID:15868370 RGD:1581374 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 severity ISO RGD PMID:17318196 RGD:8694293 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TLR3 toll like receptor 3 disease_progression
susceptibility
treatment
severity		 ISO DNA:SNP: :rs3775290(human)
treatment:peginterferon plus ribavirin.
DNA:SNP:cds:p.Leu412Phe(human)
DNA:SNP: :rs13126816 (human)		 RGD PMID:19674283 PMID:23220997 PMID:23240626 PMID:28480979 PMID:29860675 More... RGD:21079422 RGD:21079423 RGD:21079427 RGD:21079428 RGD:21079430 RGD:21079435 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO protein:increased expression:serum:
DNA:SNP: :rs2148356(human)		 RGD PMID:26095186 RGD:14700655 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TLR9 toll like receptor 9 severity ISO mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)
protein:increased expression:liver, peripheral blood mononuclear cell (human)		 RGD PMID:19513613 PMID:23026026 RGD:18337470 RGD:18337477 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TNF tumor necrosis factor severity
treatment		 ISO protein:increased expression:plasma (human)
protein:increased expression:serum (human)		 RGD PMID:9047083 PMID:9440625 PMID:25708446 RGD:14995307 RGD:14995439 RGD:38456002 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A treatment ISO RGD PMID:21152182 RGD:8661764 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G USP18 ubiquitin specific peptidase 18 treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572 		JBrowse link
G VDR vitamin D receptor treatment
no_association		 ISO DNA:polymorphism: : RGD PMID:26725771 PMID:27263300 RGD:14401746 RGD:14401749 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human) RGD PMID:29935355 RGD:15036797 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A severity ISO protein:increased expression:liver (human) RGD PMID:21739451 PMID:25225661 RGD:39938960 RGD:39938976 NCBI chr 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    disease by infectious agent 2133
      viral infectious disease 1647
        RNA Virus Infections 1351
          Flaviviridae Infections 148
            hepatitis C 119
              Chronic Hepatitis C 80
Path 2
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      gastrointestinal system disease 6572
        hepatobiliary disease 2920
          liver disease 2821
            hepatitis 285
              viral hepatitis 190
                Human Viral Hepatitis 186
                  hepatitis C 119
                    Chronic Hepatitis C 80
paths to the root