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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 dystrophy
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Accession:DOID:2566 term browser browse the term
Definition:Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
Synonyms:exact_synonym: CORNEAL DYSTROPHY, DOMINANT/RECESSIVE;   Corneal Stromal Dystrophies;   Corneal Stromal Dystrophy;   Groenouw Dystrophies;   Groenouw's Dystrophies;   Groenouws dystrophies;   hereditary corneal dystrophies;   hereditary corneal dystrophy
 narrow_synonym: CORNEAL DYSTROPHY, DOMINANT;   CORNEAL DYSTROPHY, RECESSIVE;   Corneal Granular Dystrophies;   Corneal Granular Dystrophy
 primary_id: MESH:D003317
 xref: ICD9CM:371.5;   NCI:C34512;   NCI:C34513
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
corneal 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: Corneal dystrophy ClinVar PMID:2663347 PMID:14562173 PMID:19710953 PMID:25676728 PMID:25741868 More... NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
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 Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy ClinVar NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		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...84,378,103
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, Dominant | ClinVar Annotator: match by term: Corneal dystrophy		 ClinVar
MouseDO
RGD		 PMID:9497262 PMID:10832717 PMID:11004271 PMID:11024425 PMID:11923233 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:16252232 PMID:17935237 PMID:25441224 PMID:25741868 PMID:28492532 More... NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,486,054...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:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		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...92,449,559
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:1684738 PMID:1954207 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:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal 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
ISS		 ClinVar Annotator: match by term: Bietti Crystalline Dystrophy | ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy
OMIM:210370
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:17962476 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		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
ISS		 ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea | ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea
OMIM:217700
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 | ClinVar Annotator: match by term: FCD2 LOCUS		 OMIM
CTD
ClinVar		 PMID:18414213 PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 More... 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16767101 PMID:17220209 PMID:17679935 PMID:18024964 PMID:19369245 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6		 OMIM
CTD
ClinVar		 PMID:20036349 PMID:23599324 PMID:25741868 PMID:26622166 PMID:28492532 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1		 OMIM
CTD
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, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-descemet ClinVar
OMIM		 PMID:31782998 PMID:34369396 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111 		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 and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDICT syndrome		 OMIM
CTD
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epithelial basement membrane dystrophy		 OMIM
CTD
ClinVar		 PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy		 OMIM
CTD
ClinVar		 PMID:2663347 PMID:9199555 PMID:14562173 PMID:19710953 PMID:21466533 More... NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
epithelial-stromal TGFBI 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: Epithelial-stromal TGFBI dystrophy ClinVar PMID:9054935 PMID:9463327 PMID:9559741 PMID:10798644 PMID:11923233 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		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: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED | ClinVar Annotator: match by term: Fleck corneal dystrophy		 OMIM
CTD
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
foveal hypoplasia 1 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 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		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 1 | 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 term: Foveal hypoplasia and presenile cataract syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lattice corneal dystrophy Type III		 OMIM
CTD
ClinVar		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... 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 term: Groenouw corneal dystrophy type I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1264234 PMID:9054935 PMID:9727509 PMID:11923233 PMID:21135107 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2		 OMIM
CTD
ClinVar		 PMID:9054935 PMID:9780098 PMID:9930165 PMID:10798644 PMID:11923233 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		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 OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lattice corneal dystrophy Type I		 OMIM
CTD
ClinVar		 PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 More... 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: Corneal dystrophy, lattice type 3A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Lisch epithelial corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Lisch epithelial corneal dystrophy OMIM
ClinVar		 PMID:1621784 PMID:11030752 PMID:11317355 PMID:12182165 PMID:21763169 More... NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
macular corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,679,215...39,713,907
Ensembl chr19:39,679,204...39,713,907 		JBrowse link
G Cfdp1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,718,313...39,823,824
Ensembl chr19:39,718,347...39,823,824 		JBrowse link
G Chst5 carbohydrate sulfotransferase 5 ISO ClinVar Annotator: match by term: Macular corneal dystrophy | ClinVar Annotator: match by term: Macular corneal dystrophy, type II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11017086 PMID:11278593 PMID:11818380 PMID:12824236 PMID:12882769 More... NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064 		JBrowse link
G Ctrb1 chymotrypsinogen B1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,652,931...39,657,689
Ensembl chr19:39,652,933...39,657,688 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Ldhd lactate dehydrogenase D ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Tmem170a transmembrane protein 170A ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783 		JBrowse link
G Wdr59 WD repeat domain 59 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,416,432...39,483,773
Ensembl chr19:39,416,429...39,483,698 		JBrowse link
G Zfp1 zinc finger protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,599,497...39,633,490
Ensembl chr19:39,599,954...39,632,995 		JBrowse link
G Znrf1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,496,414...39,581,600
Ensembl chr19:39,496,527...39,580,969 		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...84,378,103
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: Corneal dystrophy, Meesmann, 1 OMIM
ClinVar		 PMID:9171831 PMID:9399908 PMID:10644419 PMID:22174841 PMID:25741868 More... NCBI chr10:84,370,803...84,378,103
Ensembl chr10:84,370,883...84,378,045 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus		 OMIM
CTD
ClinVar		 PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 More... NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		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 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
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1		 CTD
ClinVar
OMIM		 PMID:4900143 PMID:16303937 PMID:23049806 PMID:25741868 PMID:26749309 More... NCBI chr 3:131,677,391...131,707,123
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: Corneal endothelial dystrophy 1, autosomal dominant | ClinVar Annotator: match by term: Maumenee corneal dystrophy ClinVar PMID:17220209 PMID:17679935 PMID:19369245 PMID:25182519 PMID:25500497 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 DNA:missense mutation:cds:p.H244R (human)
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | 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
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3		 OMIM
CTD
ClinVar		 PMID:12654361 PMID:16252232 PMID:23599324 PMID:25741868 PMID:28492532 More... 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 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		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 term: GRANULAR CORNEAL DYSTROPHY, TYPE III | ClinVar Annotator: match by term: Reis Bucklers dystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9780098 PMID:9930165 PMID:10660331 PMID:10798644 PMID:11146721 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Schnyder corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO
ISS		 OMIM:121800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schnyder corneal dystrophy | ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy		 OMIM
MouseDO
CTD
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
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 ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy OMIM
ClinVar		 PMID:29122926 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: Helicoid peripapillary chorioretinal degeneration 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration		 OMIM
CTD
ClinVar		 PMID:15016762 PMID:15359244 PMID:17689488 PMID:25741868 PMID:28492532 More... 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 PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy		 OMIM
CTD
ClinVar		 PMID:9054935 PMID:9780098 PMID:11923233 PMID:21135107 PMID:22355247 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        corneal disease 233
          corneal dystrophy 52
            Bietti crystalline corneoretinal dystrophy 3
            Brachymesomelia Renal Syndrome 0
            Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
            Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
            Corneal Cerebellar Syndrome 0
            Dermochondrocorneal Dystrophy of François 0
            EDICT Syndrome 1
            Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
            Judge Misch Wright Syndrome 0
            Kuster Majewski Hammerstein Syndrome 0
            Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
            Mousa Al din Al Nassar Syndrome 0
            Oculodental Syndrome Rutherfurd Syndrome 0
            Progressive Bifocal Chorioretinal Atrophy 0
            Reis-Bucklers corneal dystrophy 1
            Ribbonlike Corneal Degeneration with Deafness 0
            Sammartino De Crecchio Syndrome 0
            Sveinsson chorioretinal atrophy 2
            aniridia 1 7
            band keratopathy 0
            corneal dystrophy-perceptive deafness syndrome 1
            corneal endothelial dystrophy + 10
            epithelial and subepithelial dystrophy + 6
            epithelial-stromal TGFBI dystrophy + 5
            foveal hypoplasia 1 2
            posterior polymorphous corneal dystrophy + 6
            spondyloepiphyseal dysplasia with punctate corneal dystrophy 0
            spondylometaphyseal dysplasia with corneal dystrophy 1
            stromal dystrophy + 13
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              Hereditary Eye Diseases 1095
                corneal dystrophy 52
                  Bietti crystalline corneoretinal dystrophy 3
                  Brachymesomelia Renal Syndrome 0
                  Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
                  Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
                  Corneal Cerebellar Syndrome 0
                  Dermochondrocorneal Dystrophy of François 0
                  EDICT Syndrome 1
                  Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
                  Judge Misch Wright Syndrome 0
                  Kuster Majewski Hammerstein Syndrome 0
                  Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                  Mousa Al din Al Nassar Syndrome 0
                  Oculodental Syndrome Rutherfurd Syndrome 0
                  Progressive Bifocal Chorioretinal Atrophy 0
                  Reis-Bucklers corneal dystrophy 1
                  Ribbonlike Corneal Degeneration with Deafness 0
                  Sammartino De Crecchio Syndrome 0
                  Sveinsson chorioretinal atrophy 2
                  aniridia 1 7
                  band keratopathy 0
                  corneal dystrophy-perceptive deafness syndrome 1
                  corneal endothelial dystrophy + 10
                  epithelial and subepithelial dystrophy + 6
                  epithelial-stromal TGFBI dystrophy + 5
                  foveal hypoplasia 1 2
                  posterior polymorphous corneal dystrophy + 6
                  spondyloepiphyseal dysplasia with punctate corneal dystrophy 0
                  spondylometaphyseal dysplasia with corneal dystrophy 1
                  stromal dystrophy + 13
paths to the root