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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:keratoconus
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Accession:DOID:10126 term browser browse the term
Definition:A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)
Synonyms:exact_synonym: conical cornea
 primary_id: MESH:D007640
 xref: EFO:0004223;   GARD:6824;   ICD10CM:H18.6;   ICD9CM:371.6;   MONDO:0015486;   NCI:C26806;   OMIM:PS148300;   ORDO:156071
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
keratoconus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cntf ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Col5a3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:19,304,564...19,349,809
Ensembl chr 8:19,304,571...19,349,853 		JBrowse link
G Dab2ip DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931 		JBrowse link
G Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:103,471,537...103,806,120
Ensembl chr14:103,476,372...103,805,849 		JBrowse link
G Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
G Hgf hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 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 susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Kera keratocan ISO RGD PMID:11683372 RGD:1600400 NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837 		JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfatc3 nuclear factor of activated T-cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150 		JBrowse link
G Nfe2l3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 4:80,506,756...80,534,629
Ensembl chr 4:80,506,756...80,534,629 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Pon1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:24148525 PMID:23441349 RGD:8547559, RGD:8547774 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:45,289,917...45,362,012
Ensembl chr15:45,290,373...45,361,832 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc22d2 TSC22 domain family, member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:142,646,778...142,697,977
Ensembl chr 2:142,644,744...142,693,606 		JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:73,293,977...73,303,709
Ensembl chr17:73,293,978...73,303,611 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoconus		 CTD
ClinVar		 PMID:11978762 PMID:15623752 PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr19:50,282,337...50,324,010 JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDICT syndrome		 OMIM
CTD
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
Keratoconus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867 		JBrowse link
G Il17b interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:55,141,194...55,145,565
Ensembl chr18:55,141,194...55,145,565 		JBrowse link
G Prob1 proline-rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:27,242,511...27,247,355
Ensembl chr18:27,244,280...27,247,333 		JBrowse link
G Skp1 S-phase kinase-associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr10:36,401,987...36,417,066
Ensembl chr10:36,402,153...36,417,388 		JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124 		JBrowse link
G Vsx1 visual system homeobox 1 no_association ISO DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.G239R (human)
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 More... RGD:8657032, RGD:8657034, RGD:8657037, RGD:8657045, RGD:8657052 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 NCBI chr19:50,282,337...50,324,010 JBrowse link
Keratoconus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mzt2b mitotic spindle organizing protein 2B ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar PMID:29051577 NCBI chr11:85,024,120...85,031,960
Ensembl chr11:85,024,315...85,031,167 		JBrowse link
G Tuba3b tubulin, alpha 3B ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar
OMIM		 PMID:29051577 NCBI chr 4:178,588,779...178,594,328
Ensembl chr 4:178,588,779...178,594,326 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6960
      eye disease 3490
        corneal disease 235
          keratoconus 51
            EDICT Syndrome 1
            Keratoconus 1 7
            Keratoconus 2 0
            Keratoconus 3 0
            Keratoconus 4 0
            Keratoconus 5 0
            Keratoconus 6 0
            Keratoconus 7 0
            Keratoconus 8 0
            Keratoconus 9 2
            Keratoconus Posticus Circumscriptus + 0
            Keratoconus and Congenital Hip Dysplasia 0
            Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
            Noninflammatory Corneal Thinning 0
            acute hydrops keratoconus 0
            stable condition keratoconus 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            eye disease 3490
              corneal disease 235
                keratoconus 51
                  EDICT Syndrome 1
                  Keratoconus 1 7
                  Keratoconus 2 0
                  Keratoconus 3 0
                  Keratoconus 4 0
                  Keratoconus 5 0
                  Keratoconus 6 0
                  Keratoconus 7 0
                  Keratoconus 8 0
                  Keratoconus 9 2
                  Keratoconus Posticus Circumscriptus + 0
                  Keratoconus and Congenital Hip Dysplasia 0
                  Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
                  Noninflammatory Corneal Thinning 0
                  acute hydrops keratoconus 0
                  stable condition keratoconus 0
paths to the root