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 endothelial dystrophy
Accession: DOID:0060443
browse the term
Definition: A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)
Synonyms: exact_synonym: dystrophy of corneal endothelium; endothelial dystrophy
primary_id: RDO:9003253
For additional species annotation, visit the
Alliance of Genome Resources .
G
Slc4a11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Corneal endothelial dystrophy
ClinVar
PMID:16767101 PMID:16825429 PMID:17679935 PMID:18024964 PMID:18474783 PMID:23615275 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
G
Slc4a11
solute carrier family 4 member 11
ISO
OMIM
NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 PMID:21976959 PMID:24033266
NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
G
Tcf4
transcription factor 4
ISO
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3
OMIM ClinVar
PMID:18728071 PMID:25741868
NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
G
Col8a2
collagen type VIII alpha 2 chain
ISO
ClinVar Annotator: match by OMIM:136800
OMIM ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 PMID:23422828
NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
G
C3
complement C3
ISO
protein:decreased expression:aqueous humour
RGD
PMID:21139973
RGD:7401271
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
G
Clu
clusterin
ISO
RGD
PMID:18378577 , PMID:22956607
RGD:8696020 , RGD:8661808
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
G
Loxhd1
lipoxygenase homology PLAT domains 1
ISO
DNA:missense mutations: :multiple
RGD
PMID:22341973
RGD:11072687
NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
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 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
G
Tcf4
transcription factor 4
ISS
OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523
MouseDO
NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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 chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all