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keratoconus - Ontology Report - Rat Genome Database

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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;   MIM:PS148300;   MONDO:0015486;   NCI:C26806;   ORDO:156071
For additional species annotation, visit the Alliance of Genome Resources.

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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 chr16:18,302,145...18,312,768
Ensembl chr16:18,302,142...18,312,756 		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 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CNTF ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr 1:14,724,562...14,730,698
Ensembl chr 1:14,728,383...14,730,150 		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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G COL5A3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:9,033,298...9,092,061
Ensembl chr 6:9,033,287...9,091,826 		JBrowse link
G DAB2IP DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890 		JBrowse link
G DOP1B DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:80,173,127...80,290,958
Ensembl chr 2:80,173,073...80,289,043 		JBrowse link
G EML6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:51,955,409...52,210,868
Ensembl chr14:51,957,866...52,115,283 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405 		JBrowse link
G FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr15:17,060,117...17,428,340
Ensembl chr15:17,059,959...17,428,339 		JBrowse link
G FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707 		JBrowse link
G FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr16:61,837,202...61,839,126
Ensembl chr16:61,837,304...61,839,013 		JBrowse link
G HGF hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G KERA keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097 		JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:981,515...1,018,242 JBrowse link
G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr22:8,385,109...8,414,553
Ensembl chr22:8,385,229...8,414,655 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 5:59,193,139...59,346,361 JBrowse link
G NFE2L3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr21:32,180,799...32,211,662
Ensembl chr21:32,182,133...32,211,459 		JBrowse link
G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr26:42,737,848...42,798,960
Ensembl chr26:42,737,613...42,750,248 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr20:119,824,380...119,865,866 JBrowse link
G PON1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr23:6,562,435...6,639,330
Ensembl chr23:6,571,657...6,641,002 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:20,522,829...20,621,445 JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:667,440...676,380
Ensembl chr 2:667,510...676,109 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157 		JBrowse link
G TSC22D2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:40,232,247...40,284,936
Ensembl chr15:40,233,732...40,283,899 		JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:13,262,924...13,276,091
Ensembl chr 9:13,263,264...13,275,328 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar
G VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr11:45,217,402...45,222,996
Ensembl chr11:45,219,027...45,222,017 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr 5:73,762,456...73,820,262 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 PMID:25741868 NCBI chr 9:62,051,098...62,099,986
Ensembl chr 9:62,052,027...62,099,221 		JBrowse link
G IL17B interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:51,992,877...52,001,280
Ensembl chr23:51,993,258...51,998,043 		JBrowse link
G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:42,063,062...42,067,649
Ensembl chr23:42,064,506...42,067,541 		JBrowse link
G SKP1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:36,961,572...36,978,849
Ensembl chr23:36,962,328...36,978,757 		JBrowse link
G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:42,069,223...42,077,304
Ensembl chr23:42,069,256...42,076,480 		JBrowse link
G VSX1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr 5:73,762,456...73,820,262 JBrowse link
Keratoconus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr 6:17,385,176...17,396,506
Ensembl chr 6:17,385,175...17,394,319 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    sensory system disease 6943
      eye disease 3575
        corneal disease 224
          keratoconus 48
            EDICT Syndrome 0
            Keratoconus 1 7
            Keratoconus 2 0
            Keratoconus 3 0
            Keratoconus 4 0
            Keratoconus 5 1
            Keratoconus 6 0
            Keratoconus 7 0
            Keratoconus 8 0
            Keratoconus 9 0
            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 15417
    disease of anatomical entity 15080
      nervous system disease 13233
        Neurologic Manifestations 9831
          sensory system disease 6943
            eye disease 3575
              corneal disease 224
                keratoconus 48
                  EDICT Syndrome 0
                  Keratoconus 1 7
                  Keratoconus 2 0
                  Keratoconus 3 0
                  Keratoconus 4 0
                  Keratoconus 5 1
                  Keratoconus 6 0
                  Keratoconus 7 0
                  Keratoconus 8 0
                  Keratoconus 9 0
                  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