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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:corneal disease
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Accession:DOID:10124 term browser browse the term
Definition:Diseases of the cornea.
Synonyms:exact_synonym: corneal diseases
 primary_id: MESH:D003316;   RDO:0000299
 xref: ICD10CM:H18.9;   ICD9CM:371.9;   NCI:C26731
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
corneal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 molecule IEP protein:increased expression:corneal epithelium, Langerhans cell (rat) RGD PMID:19907296 RGD:4892211 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12824234 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12824234 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Zfp469 zinc finger protein 469 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452888 NCBI chr19:50,282,434...50,324,010 JBrowse link
Acanthamoeba Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll-like receptor 4 IEP mRNA,protein:increased expression:cornea RGD PMID:21155840 RGD:7777095 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 More... NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,385,329...92,450,557
Ensembl chr 3:92,385,379...92,452,313
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
OMIM
ClinVar
PMID:1251879 PMID:1302030 PMID:1345175 PMID:1954207 PMID:6988567 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:15150775 PMID:17630404 PMID:23349334 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:32499604 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:9097971 PMID:9497261 PMID:11403040 PMID:11527932 PMID:12036985 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anterior segment anomalies and cataract ClinVar PMID:10655545 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar
RGD
PMID:32499604 PMID:10767326 RGD:8662365 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Foxe3 forkhead box E3 ISO DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
RGD
PMID:16826526 PMID:20361012 PMID:32499604 PMID:34046667 PMID:11159941 RGD:1598957 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Mug2 murinoglobulin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:27839872 PMID:32499604 NCBI chr 4:155,164,061...155,236,765
Ensembl chr 4:155,164,011...155,236,475
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1
ClinVar PMID:7581385 PMID:9437321 PMID:15378534 PMID:15591271 PMID:25741868 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9620774 PMID:18989383 PMID:18989383 RGD:11535067 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
JBrowse link
G Pxdn peroxidasin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
CTD
ClinVar
PMID:32499604 NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
JBrowse link
G Tsc1 TSC complex subunit 1 ISS MouseDO NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:9620774 PMID:15286169 PMID:17888164 PMID:21836522 PMID:24555714 More... NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar
OMIM
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO OMIM NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 3
ClinVar Annotator: match by term: Iridogoniodysgenesis type1
ClinVar Annotator: match by OMIM:601631
OMIM
ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by OMIM:137600
OMIM
ClinVar
CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11774072 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE TYPES
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
OMIM
ClinVar
PMID:1251879 PMID:1954207 PMID:6988567 PMID:9651515 PMID:9727514 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis 6
ClinVar
OMIM
PMID:9097971 PMID:9463332 PMID:9497261 PMID:10426814 PMID:10739169 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 7
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
OMIM
ClinVar
PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 More... NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mug2 murinoglobulin 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr 4:155,164,061...155,236,765
Ensembl chr 4:155,164,011...155,236,475
JBrowse link
arcus senilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISO autosomal recessive cornea plana, OMIM:217300 RGD PMID:10802664 RGD:1600335 NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837
JBrowse link
autosomal dominant keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Keratitis, hereditary
ClinVar Annotator: match by term: Autosomal dominant keratitis
ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Autosomal dominant keratitis
ClinVar Annotator: match by term: Dominantly inherited keratitis
ClinVar Annotator: match by term: Keratitis, hereditary
ClinVar Annotator: match by OMIM:148190
ClinVar Annotator: match by term: Keratitis, autosomal dominant
DNA:snp:exon:IVS10-2A>T (human)
OMIM
ClinVar
RGD
PMID:7627897 PMID:7668281 PMID:9727514 PMID:12868034 PMID:15086958 More... RGD:8551884 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
ClinVar Annotator: match by OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
OMIM
RGD
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 More... RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
autosomal recessive cutis laxa type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:deletions:cds:
ClinVar Annotator: match by term: Progeroid syndrome of De Barsy
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:21739576 PMID:25741868 PMID:28492532 More... RGD:13434922, RGD:13434923 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome
ClinVar Annotator: match by term: DE BARSY SYNDROME A
ClinVar
OMIM
RGD
PMID:8779323 PMID:9536098 PMID:11092761 PMID:17576681 PMID:18478038 More... RGD:13439710 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: DE BARSY SYNDROME B
ClinVar Annotator: match by OMIM:614438
OMIM
ClinVar
PMID:4076251 PMID:16233902 PMID:18348262 PMID:19648921 PMID:22052856 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
Bacterial Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor type 1 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Ly96 lymphocyte antigen 96 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO associated with Staphylococcal Infections;
associated with Serratia Infections;
RGD PMID:16926427 PMID:23033384 RGD:8552819, RGD:8662876 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Staphylococcal Infections;
associated with Pneumococcal Infections;
RGD PMID:16926427 PMID:23841825 RGD:8552819, RGD:8552886 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Pneumococcal Infections;
associated with Serratia Infections;
RGD PMID:23841825 PMID:23033384 RGD:8552886, RGD:8662876 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr5 toll-like receptor 5 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy
ClinVar Annotator: match by term: Bietti Crystalline Dystrophy
ClinVar Annotator: match by OMIM:210370
OMIM
ClinVar
PMID:15042513 PMID:15937078 PMID:16179904 PMID:17962476 PMID:18398705 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB ClinVar PMID:10766984 PMID:11370633 PMID:20004762 PMID:20533528 PMID:26373698 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar PMID:28492532 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:50,282,434...50,324,010 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 More... NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
Cataract Microcornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract microcornea syndrome
CTD
ClinVar
PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 More... NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) RGD PMID:19182255 RGD:13204740 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aphakia, congenital primary
ClinVar Annotator: match by term: Congenital primary aphakia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 More... NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea OMIM
ClinVar
PMID:9536098 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17576681 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:19763142 More... NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis OMIA PMID:16961470 PMID:22212237 PMID:22253609 PMID:22339941 PMID:29284193 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
congenital stromal corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcn decorin ISO ClinVar Annotator: match by term: Congenital Stromal Corneal Dystrophy
ClinVar Annotator: match by OMIM:610048
OMIM
ClinVar
PMID:5304426 PMID:11805522 PMID:15671264 PMID:16935612 PMID:21993463 More... NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
JBrowse link
cornea plana term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISS OMIM:121400 | OMIM:217300 MouseDO NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837
JBrowse link
Cornea Plana 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISO ClinVar Annotator: match by term: Cornea plana 2
ClinVar Annotator: match by OMIM:217300
OMIM
ClinVar
PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 More... NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837
JBrowse link
corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar PMID:15042513 PMID:15937078 PMID:23221965 PMID:24480711 PMID:25741868 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO RGD PMID:11726641 RGD:1598895 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kera keratocan ISO autosomal recessive cornea plana, OMIM:217300 RGD PMID:10802664 RGD:1600335 NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837
JBrowse link
G Krt12 keratin 12 susceptibility ISO protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 RGD PMID:9171831 RGD:1600169 NCBI chr10:84,370,803...84,378,075
Ensembl chr10:84,370,883...84,378,045
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar PMID:18024964 PMID:18363173 PMID:20144242 PMID:20848555 PMID:23585771 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO gelatinous drop-like corneal dystrophy
ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive
ClinVar
RGD
PMID:10192395 RGD:1599194 NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO
ISS
granular dystrophy Groenouw type I, OMIM:121900, Thiel-Behnke corneal dystrophy, OMIM:602082, lattice corneal dystrophy type I , OMIM:122200, and Avellino corneal dystrophy OMIM:607541
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar Annotator: match by term: Corneal Dystrophy, Dominant
ClinVar
MouseDO
RGD
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 More... RGD:1599387 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
G Vsx1 visual system homeobox 1 ISO KTCN1, OMIM:148300, PPCD1, OMIM:122000
CTD Direct Evidence: marker/mechanism
associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human)
CTD
RGD
PMID:11978762 PMID:11978762 PMID:15051220 RGD:1599773, RGD:8657029 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 OMIM
ClinVar
PMID:18728071 PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4
ClinVar Annotator: match by OMIM:613268
OMIM
ClinVar
PMID:16767101 PMID:25741868 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6
ClinVar Annotator: match by term: Corneal dystrophy, fuchs endothelial, 6
ClinVar Annotator: match by OMIM:613270
OMIM
ClinVar
PMID:20036349 PMID:25741868 PMID:26622166 PMID:28492532 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8
ClinVar Annotator: match by OMIM:615523
OMIM
ClinVar
PMID:24094747 PMID:25741868 NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
JBrowse link
Corneal Dystrophy, Fuchs' Endothelial, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial 1
ClinVar Annotator: match by OMIM:136800
OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
ClinVar Annotator: match by term: Corneal dystrophy and perceptive deafness
ClinVar Annotator: match by OMIM:217400
OMIM
ClinVar
PMID:16767101 PMID:16825429 PMID:17220209 PMID:17679935 PMID:18024964 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
corneal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO mRNA:increased expression:cornea RGD PMID:7657553 RGD:7794733 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
Corneal Graft Rejection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule treatment IMP RGD PMID:22300371 RGD:41412184 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd4 Cd4 molecule treatment IMP RGD PMID:1358194 RGD:10059315 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO human gene in a rat model RGD PMID:23723965 RGD:9684950 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
Corneal Injuries 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 CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Tp63 tumor protein p63 ISO RGD PMID:12167247 RGD:11568649 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
corneal neovascularization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO mRNA, protein:increased expression:cornea RGD PMID:18829859 RGD:8548897 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:18829859 RGD:8548897 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:12827053 PMID:19421039 RGD:8657360, RGD:9491750 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:cornea RGD PMID:20610836 RGD:6892921 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:12556387 RGD:734790 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:17003426 RGD:6893528 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:18322241 RGD:9365153 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Fas Fas cell surface death receptor treatment ISO RGD PMID:12506060 RGD:8662416 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9301478 PMID:11437330 RGD:8655668 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment IMP RGD PMID:19647313 RGD:10402147 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Il17a interleukin 17A treatment ISO associated with Herpes Simplex RGD PMID:22379030 RGD:9068451 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in mouse model RGD PMID:10359324 PMID:12202509 RGD:8549790, RGD:8549796 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Itgav integrin subunit alpha V IDA RGD PMID:10664059 RGD:1582461 NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639
JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:21691137 PMID:18263815 RGD:8549714, RGD:8549755 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Muc4 mucin 4, cell surface associated IEP RGD PMID:17169838 RGD:7349391 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21719569 PMID:22553751 RGD:6771213, RGD:6771229 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment ISO RGD PMID:17625041 RGD:8552895 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:19596319 RGD:8554890 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism
associated with Herpes Simplex;protein:increased expression:cornea:
CTD
RGD
PMID:9301478 PMID:22467572 PMID:21325621 RGD:7483619, RGD:8547993 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Corneal Opacity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:817853 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Corneal opacities ClinVar NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
Corneal Perforation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO mRNA,protein:increased expression:corneal RGD PMID:15832292 RGD:8157597 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
corneal ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: RGD PMID:12714388 RGD:7829721 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO associated with Hypersensitivity;mRNA:decreased expression:eye RGD PMID:16251127 RGD:7364739 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:24244623 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19553628 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: RGD PMID:12714388 RGD:7829721 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome
ClinVar Annotator: match by OMIM:614195
OMIM
ClinVar
PMID:15051220 PMID:25741868 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
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 ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
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
epithelial basement membrane dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea
ClinVar Annotator: match by OMIM:121820
OMIM
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
epithelial recurrent erosion dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy ClinVar
OMIM
PMID:2663347 PMID:14562173 PMID:19710953 PMID:25676728 PMID:25741868 More... NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 More... NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
Fleck corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Fleck corneal dystrophy
ClinVar Annotator: match by OMIM:121850
OMIM
ClinVar
PMID:15902656 PMID:18558518 PMID:23288988 PMID:25741868 PMID:26396486 More... NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868
JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
JBrowse link
G C3 complement C3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:
RGD PMID:22956607 PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Clu clusterin ISO RGD PMID:18378577 PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Tcf4 transcription factor 4 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
Fungal Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec7a C-type lectin domain containing 7A treatment ISO mRNA:increased expression:cornea RGD PMID:26963514 PMID:26963514 RGD:11526921, RGD:11526921 NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:20617171 RGD:7794847 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 treatment ISO mRNA:increased expression:cornea RGD PMID:26963514 PMID:26963514 PMID:26963514 RGD:11526921, RGD:11526921, RGD:11526921 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
G Tslp thymic stromal lymphopoietin disease_progression ISO RGD PMID:29550278 PMID:30853520 RGD:38549371, RGD:38549574 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:28492532 NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650
JBrowse link
granular corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Granular corneal dystrophy ClinVar NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
granular corneal dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:121900 OMIM
ClinVar
PMID:9054935 PMID:9727509 PMID:11923233 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
granular corneal dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Avellino corneal dystrophy
ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE II
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:9930165 PMID:15059726 PMID:16606891 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
herpes simplex virus keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E treatment ISO RGD PMID:18515564 RGD:7771550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atm ATM serine/threonine kinase ameliorates ISO RGD PMID:24370835 RGD:126781690 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:18798077 PMID:16476970 RGD:8551819, RGD:8551837 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:16253242 RGD:41410794 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:18798077 RGD:8551819 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Ifnb1 interferon beta 1 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
G Ifng interferon gamma ISO RGD PMID:12162877 RGD:8157603 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:22467659 RGD:7364834 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196 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 treatment ISO human protein in a mouse model RGD PMID:15258192 RGD:8549793 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:29370719 PMID:21204603 RGD:127285376, RGD:127285545 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il23a interleukin 23 subunit alpha ISO mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Kdr kinase insert domain receptor treatment ISO protein:increased expression:cornea: RGD PMID:16951377 PMID:16951377 RGD:8549742, RGD:8549742 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Rnasel ribonuclease L treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cornea: RGD PMID:17686871 PMID:17667620 RGD:7794851, RGD:8552970 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO mRNA:increased expression:cornea RGD PMID:10624423 PMID:12162877 RGD:7401196, RGD:8157603 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome ClinVar
OMIM
PMID:25741868 PMID:31630788 PMID:31630791 NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:SNPs,haplotype:promoter:-174 G>C,−572 C/G(human) RGD PMID:22503230 RGD:7829772 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO
IMP
associated with Onchocerciasis, Ocular;
CTD Direct Evidence: marker/mechanism
associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:
associated with Aspergillosis:
CTD
RGD
PMID:23661603 PMID:17875630 PMID:18398706 PMID:21647173 RGD:7794840, RGD:8552914, RGD:8552816 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage:
associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:
associated with Eye Infections,Fungal;
associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human)
RGD PMID:19074808 PMID:18398706 PMID:19875664 PMID:24074256 RGD:7794779, RGD:8552914, RGD:7794845, RGD:7794785 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:21666233 RGD:5685380 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
Keratitis Fugax Hereditaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Keratitis fugax hereditaria ClinVar
OMIM
PMID:3604606 PMID:25741868 PMID:29366613 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:9285800 PMID:9819448 PMID:10049954 PMID:10508996 PMID:10596881 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
keratoconjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc16 mucin 16, cell surface associated ISO mRNA:increased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:conjnctival epithelium: RGD PMID:15875531 RGD:8552813 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
keratoconjunctivitis sicca term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:conjunctiva, cornea RGD PMID:20007286 RGD:7483613 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Il6 interleukin 6 ISO associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:14507865 RGD:7349377 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:14507865 RGD:7349377 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Nrtn neurturin ISO RGD PMID:14507865 RGD:7349377 NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
JBrowse link
G Tnf tumor necrosis factor ISO associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
keratoconus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 2:168,365,364...168,381,533
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 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 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 Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 4:167,266,581...167,400,155
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 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 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 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 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: Conical cornea
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 NCBI chr19:50,282,434...50,324,010 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 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...27,249,053
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 Vsx1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1
ClinVar Annotator: match by OMIM:148300
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutation:cds:p.G239R (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)
OMIM
ClinVar
RGD
PMID:11978762 PMID:15623752 PMID:16384943 PMID:18216574 PMID:21976959 More... RGD:8657052, RGD:8657045, RGD:8657037, RGD:8657034, RGD:8657032 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 null
ClinVar Annotator: match by term: Keratoconus 1
ClinVar PMID:24895405 PMID:28492532 NCBI chr19:50,282,434...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
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:122200 OMIM
ClinVar
PMID:9054935 PMID:9559741 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
macular corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst5 carbohydrate sulfotransferase 5 ISO ClinVar Annotator: match by term: Macular corneal dystrophy
ClinVar Annotator: match by term: Macular corneal dystrophy Type I
ClinVar Annotator: match by OMIM:217800
OMIM
ClinVar
PMID:11017086 PMID:11278593 PMID:11818380 PMID:12824236 PMID:12882775 More... NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064
JBrowse link
Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO OMIM NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
Meesmann corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt12 keratin 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,370,803...84,378,075
Ensembl chr10:84,370,883...84,378,045
JBrowse link
Meesmann corneal dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt12 keratin 12 ISO ClinVar Annotator: match by term: Meesmann corneal dystrophy 1 ClinVar
OMIM
PMID:9171831 PMID:9399908 PMID:10644419 PMID:22174841 NCBI chr10:84,370,803...84,378,075
Ensembl chr10:84,370,883...84,378,045
JBrowse link
megalocornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Megalocornea ClinVar
OMIM
PMID:22284829 PMID:25093588 PMID:25741868 PMID:26938784 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921
JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
ClinVar Annotator: match by OMIM:615458
OMIM
ClinVar
PMID:22686506 PMID:23818446 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 OMIM
ClinVar
PMID:30945270 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
O'Donnell Pappas Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520
OMIM
ClinVar
PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:snp:cds:p.G61E (human)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
ClinVar
RGD
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11558822 More... RGD:7800682 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:21931569 PMID:26893459 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peters anomaly
ClinVar
CTD
RGD
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... RGD:8551891 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar PMID:26893459 NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:1347096 PMID:26893459 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Rarg retinoic acid receptor, gamma ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chr 6:15,372,569...15,443,000
Ensembl chr 6:15,375,496...15,441,480
JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:261540
OMIM
ClinVar
CTD
PMID:16199547 PMID:16909395 PMID:18199743 PMID:18798333 PMID:19796186 More... NCBI chr12:5,255,521...5,346,998
Ensembl chr12:5,255,740...5,346,810
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
posterior polymorphous corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Posterior Polymorphous Corneal Dystrophy
ClinVar Annotator: match by term: Polymorphous posterior corneal dystrophy
ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:4900143 PMID:16303937 PMID:23049806 PMID:26749309 NCBI chr 3:131,677,388...131,707,844
Ensembl chr 3:131,677,391...131,708,359
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25182519 PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Vsx1 visual system homeobox 1 ISO DNA:missense mutation:cds:p.H244R (human)
ClinVar Annotator: match by term: MAUMENEE CORNEAL DYSTROPHY
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
ClinVar
RGD
PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... RGD:8657036 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 2
ClinVar Annotator: match by OMIM:609140
OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
posterior polymorphous corneal dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:12654361 PMID:16252232 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
posterior polymorphous corneal dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous 4
ClinVar
OMIM
PMID:25741868 PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
JBrowse link
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Pseudoinflammatory fundus dystrophy
ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form
ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Pseudoinflammatory fundus dystrophy
ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form
ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
Pseudomonas Aeruginosa Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpb CCAAT/enhancer binding protein beta treatment ISO mRNA, protein:increased expression:cornea (mouse) RGD PMID:23626014 RGD:40903020 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:9916118 RGD:8547701 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23878501 RGD:7364804 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:12023376 RGD:8655931 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:11895986 RGD:7401195 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 treatment ISO mRNA:increased expression:cornea (mouse) RGD PMID:11895986 PMID:9423885 RGD:7401195, RGD:8549805 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 RGD PMID:11349084 RGD:7829813 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16384971 RGD:8547891 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:cornea: RGD PMID:20012880 RGD:8552969 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:cornea: RGD PMID:17065506 PMID:20012880 RGD:7794775, RGD:8552969 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tslp thymic stromal lymphopoietin severity ISO RGD PMID:30128494 RGD:38596331 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l2 Bcl2-like 2 IEP RNA:increased expression:conjunctiva RGD PMID:27415790 RGD:14394423 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Cat catalase ISO protein:increased activity:conjunctiva RGD PMID:18987486 RGD:9068921 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Eln elastin ISO protein:increased expression:conjunctiva: RGD PMID:11021831 RGD:9585733 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:20198298 RGD:8554855 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO DNA:deletion:cds (human) RGD PMID:15273656 RGD:7488957 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO protein:increased expression:conjunctiva:
mRNA,protein:decreased expression:conjunctiva:
RGD PMID:23376569 PMID:15885787 RGD:8549754, RGD:8549762 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Mir122 microRNA 122 IEP RNA:decreased expression:conjunctiva RGD PMID:27415790 RGD:14394423 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:14716324 RGD:8657375 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:conjunctiva (human) RGD PMID:21892527 RGD:6771360 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Tp53 tumor protein p53 ISO protein:altered expression:pterygia: RGD PMID:19065760 RGD:8547760 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:conjunctiva: RGD PMID:15885787 RGD:8549762 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vegfc vascular endothelial growth factor C ISO mRNA:increased expression:bulbar conjunctiva: RGD PMID:22801834 RGD:8548457 NCBI chr16:37,712,408...37,827,657
Ensembl chr16:37,712,262...37,827,848
JBrowse link
Reis-Bucklers corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:608470 OMIM
ClinVar
PMID:9780098 PMID:9930165 PMID:10660331 PMID:11146721 PMID:15885785 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Retinal Macular Dystrophy 1, North Carolina Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type
ClinVar Annotator: match by term: North Carolina macular dystrophy
ClinVar PMID:9238090 PMID:9801042 PMID:9924305 PMID:10617775 PMID:25741868 More... NCBI chr 5:35,220,815...35,233,641
Ensembl chr 5:35,225,435...35,232,881
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Ring dermoid of cornea
ClinVar Annotator: match by OMIM:180550
OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28166811 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
Rubinstein Taybi like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:16412590 PMID:30806792 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
Schnyder corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy ClinVar NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy
ClinVar Annotator: match by OMIM:121800
OMIM
ClinVar
PMID:3486394 PMID:8190477 PMID:9450854 PMID:15034782 PMID:17668063 More... NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
JBrowse link
sclerocornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad54l RAD54 like ISS OMIM:181700 MouseDO NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
JBrowse link
spondylometaphyseal dysplasia with corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb3 phospholipase C beta 3 ISO OMIM NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
JBrowse link
Sveinsson chorioretinal atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy ClinVar PMID:25741868 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Tead1 TEA domain transcription factor 1 ISO ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy
ClinVar Annotator: match by term: Sveinsson choreoretinal atrophy
OMIM
ClinVar
PMID:15016762 PMID:17689488 PMID:28492532 NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369
JBrowse link
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy ClinVar PMID:25741868 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy
ClinVar Annotator: match by OMIM:602082
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:11923233 PMID:22355247 PMID:25741868 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
trachoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 no_association
severity
ISO protein:increased expression:tear
DNA:SNP:promoter:−1082G>A (human)
DNA:SNP:promoter:−819T>C, −592A>C (human)
DNA:SNP, haplotype:promoter:−1082G>A (human)
DNA:haplotype: :
RGD PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295 RGD:7365037, RGD:7365085, RGD:7365085, RGD:7365072, RGD:7365053 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:conjunctiva (human) RGD PMID:21911461 RGD:9068420 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian) RGD PMID:18824733 RGD:7364877 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP, haplotypes:promoter:−308G>A (human) RGD PMID:17330135 RGD:8548830 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Trachomatous Trichiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:decreased expression:tarsal conjunctiva (human) RGD PMID:20375326 RGD:8552676 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825 PMID:22922033 PMID:25741868 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    sensory system disease 5664
      eye disease 2768
        corneal disease 202
          Arnold Stickler Bourne Syndrome 0
          Bowman's membrane folds or rupture 0
          Brittle Cornea Syndrome + 3
          Cataract Microcornea Syndrome 2
          Colobomatous Macrophthalmia with Microcornea 0
          Corneal Endothelial Cell Loss 0
          Corneal Graft Rejection 3
          Corneal Hypesthesia, Familial 0
          Corneal Injuries + 3
          Corneal Opacity + 30
          Corneal Wavefront Aberration 0
          Dermoids of Cornea 0
          Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
          Microspherophakia + 1
          Neuhauser Syndrome 0
          Ramos Arroyo Clark Syndrome 0
          Stern Lubinsky Durrie Syndrome 0
          cornea cancer + 0
          cornea plana + 1
          corneal argyrosis 0
          corneal degeneration + 2
          corneal deposit + 0
          corneal dystrophy + 45
          corneal ectasia 0
          corneal edema + 1
          corneal intraepithelial neoplasm 0
          corneal neovascularization + 21
          corneal staphyloma 0
          keratitis + 67
          keratoconus + 34
          keratopathy + 0
          megalocornea + 2
          pseudopterygium 0
          pterygium + 17
          ring dermoid of cornea 1
          sclerocornea + 30
          trachoma + 5
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          eye disease 2768
            corneal disease 202
              Arnold Stickler Bourne Syndrome 0
              Bowman's membrane folds or rupture 0
              Brittle Cornea Syndrome + 3
              Cataract Microcornea Syndrome 2
              Colobomatous Macrophthalmia with Microcornea 0
              Corneal Endothelial Cell Loss 0
              Corneal Graft Rejection 3
              Corneal Hypesthesia, Familial 0
              Corneal Injuries + 3
              Corneal Opacity + 30
              Corneal Wavefront Aberration 0
              Dermoids of Cornea 0
              Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
              Microspherophakia + 1
              Neuhauser Syndrome 0
              Ramos Arroyo Clark Syndrome 0
              Stern Lubinsky Durrie Syndrome 0
              cornea cancer + 0
              cornea plana + 1
              corneal argyrosis 0
              corneal degeneration + 2
              corneal deposit + 0
              corneal dystrophy + 45
              corneal ectasia 0
              corneal edema + 1
              corneal intraepithelial neoplasm 0
              corneal neovascularization + 21
              corneal staphyloma 0
              keratitis + 67
              keratoconus + 34
              keratopathy + 0
              megalocornea + 2
              pseudopterygium 0
              pterygium + 17
              ring dermoid of cornea 1
              sclerocornea + 30
              trachoma + 5
paths to the root