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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 Opacity
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Accession:DOID:9008606 term browser browse the term
Definition:Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.
Synonyms:exact_synonym: Corneal Opacities;   Leukoma;   Leukomas
 xref: MESH:D003318



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Corneal Opacity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:817853 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G JAG1 jagged canonical Notch ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Corneal opacity ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G SLC4A4 solute carrier family 4 member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 treatment IDA RGD PMID:20837529 RGD:7777186 NCBI chr 2:151,357,592...151,381,340
Ensembl chr 2:151,357,592...151,380,046
JBrowse link
arcus senilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KERA keratocan IAGP autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S RGD PMID:10802664 RGD:1600335 NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024
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 IAGP DNA:deletions:cds:
ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome
ClinVar Annotator: match by term: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar
RGD
PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 More... RGD:13434922, RGD:13434923 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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 IAGP 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:9643297 PMID:11092761 PMID:16199547 More... RGD:13439710 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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 IAGP ClinVar Annotator: match by term: DE BARSY SYNDROME B
ClinVar Annotator: match by term: PYCR1-related condition
ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
OMIM
ClinVar
PMID:4076251 PMID:9536098 PMID:16199547 PMID:16233902 PMID:17576681 More... NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,231,787...112,273,110
Ensembl chr 4:112,231,740...112,273,110
JBrowse link
G AP1AR-DT AP1AR divergent transcript IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,229,561...112,232,150 JBrowse link
G FAM241A family with sequence similarity 241 member A IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,145,454...112,195,256
Ensembl chr 4:112,145,454...112,195,256
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 1:26,472,440...26,476,642
Ensembl chr 1:26,472,440...26,478,209
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696
JBrowse link
G LINC02945 long intergenic non-protein coding RNA 2945 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:111,803,466...112,112,270
Ensembl chr 4:111,803,231...112,112,273
JBrowse link
G LOC105377366 uncharacterized LOC105377366 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:111,632,170...111,648,808 JBrowse link
G LOC110120703 VISTA enhancer hs559 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:111,500,646...111,501,749 JBrowse link
G LOC110120805 VISTA enhancer hs926 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:111,747,146...111,748,759 JBrowse link
G LOC110120806 VISTA enhancer hs930 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:110,748,103...110,750,012 JBrowse link
G LOC110120819 VISTA enhancer hs981 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,521,234...112,522,374 JBrowse link
G LOC112935973 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:113003830-113005029 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,082,674...112,083,873 JBrowse link
G LOC112935974 Sharpr-MPRA regulatory region 9995 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,297,133...112,297,427 JBrowse link
G LOC112935975 Sharpr-MPRA regulatory region 864 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,759,601...112,760,447 JBrowse link
G LOC123477806 Sharpr-MPRA regulatory region 3285 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,213,233...112,213,527 JBrowse link
G LOC123477807 Sharpr-MPRA regulatory region 420 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,361,473...112,361,767 JBrowse link
G LOC123477808 Sharpr-MPRA regulatory region 87 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,705,533...112,705,827 JBrowse link
G LOC129992967 ATAC-STARR-seq lymphoblastoid active region 21818 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:110,867,482...110,867,571 JBrowse link
G LOC129992968 ATAC-STARR-seq lymphoblastoid silent region 15631 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:111,991,499...111,991,568 JBrowse link
G LOC129992969 ATAC-STARR-seq lymphoblastoid silent region 15632 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,049,315...112,049,394 JBrowse link
G LOC129992970 ATAC-STARR-seq lymphoblastoid active region 21819 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,077,292...112,077,341 JBrowse link
G LOC129992971 ATAC-STARR-seq lymphoblastoid silent region 15633 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,145,235...112,145,884 JBrowse link
G LOC129992972 ATAC-STARR-seq lymphoblastoid active region 21820 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,146,225...112,146,364 JBrowse link
G LOC129992973 ATAC-STARR-seq lymphoblastoid active region 21821 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,232,532...112,232,581 JBrowse link
G LOC129992974 ATAC-STARR-seq lymphoblastoid silent region 15636 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,235,115...112,235,164 JBrowse link
G LOC129992975 ATAC-STARR-seq lymphoblastoid active region 21822 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,271,379...112,271,498 JBrowse link
G LOC129992976 ATAC-STARR-seq lymphoblastoid active region 21823 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,279,529...112,279,758 JBrowse link
G LOC129992977 ATAC-STARR-seq lymphoblastoid active region 21824 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,284,677...112,284,856 JBrowse link
G LOC129992978 ATAC-STARR-seq lymphoblastoid active region 21825 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,284,887...112,285,006 JBrowse link
G LOC129992979 ATAC-STARR-seq lymphoblastoid silent region 15637 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,285,647...112,285,956 JBrowse link
G LOC129992980 ATAC-STARR-seq lymphoblastoid active region 21826 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,287,516...112,287,635 JBrowse link
G LOC129992981 ATAC-STARR-seq lymphoblastoid active region 21827 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,319,237...112,319,286 JBrowse link
G LOC129992982 ATAC-STARR-seq lymphoblastoid active region 21828 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,514,112...112,514,251 JBrowse link
G LOC129992983 ATAC-STARR-seq lymphoblastoid silent region 15638 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,514,812...112,515,011 JBrowse link
G LOC129992984 ATAC-STARR-seq lymphoblastoid silent region 15639 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,515,272...112,515,341 JBrowse link
G LOC129992985 ATAC-STARR-seq lymphoblastoid silent region 15640 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,516,662...112,516,941 JBrowse link
G LOC129992986 ATAC-STARR-seq lymphoblastoid silent region 15641 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,523,174...112,523,293 JBrowse link
G LOC129992987 ATAC-STARR-seq lymphoblastoid silent region 15642 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,523,944...112,524,163 JBrowse link
G LOC129992988 ATAC-STARR-seq lymphoblastoid active region 21831 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,636,706...112,636,925 JBrowse link
G LOC129992989 ATAC-STARR-seq lymphoblastoid active region 21832 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,637,496...112,637,545 JBrowse link
G LOC129992990 ATAC-STARR-seq lymphoblastoid active region 21833 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,637,586...112,637,695 JBrowse link
G LOC129992991 ATAC-STARR-seq lymphoblastoid silent region 15643 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,813,921...112,813,980 JBrowse link
G LOC132089000 Neanderthal introgressed variant-containing enhancer experimental_72035 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:110,745,343...110,745,512 JBrowse link
G LOC132089001 Neanderthal introgressed variant-containing enhancer experimental_72110 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:111,711,412...111,711,581 JBrowse link
G MIR297 microRNA 297 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:110,860,582...110,860,647
Ensembl chr 4:110,860,582...110,860,647
JBrowse link
G MIR302A microRNA 302a IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,648,183...112,648,251
Ensembl chr 4:112,648,183...112,648,251
JBrowse link
G MIR302B microRNA 302b IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,648,485...112,648,557
Ensembl chr 4:112,648,485...112,648,557
JBrowse link
G MIR302C microRNA 302c IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,648,363...112,648,430
Ensembl chr 4:112,648,363...112,648,430
JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,706,894
JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941
JBrowse link
G NEUROG2 neurogenin 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,513,516...112,516,180
Ensembl chr 4:112,513,516...112,516,180
JBrowse link
G NEUROG2-AS1 NEUROG2 and ZGRF1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,515,379...112,546,885
Ensembl chr 4:112,514,291...112,603,529
JBrowse link
G PITX2 paired like homeodomain 2 IAGP
ISS
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
ClinVar
MouseDO
OMIM
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,274,537...112,285,904
Ensembl chr 4:112,272,968...112,285,955
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:112,539,339...112,636,909
Ensembl chr 4:112,539,333...112,636,995
JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP35 Rho GTPase activating protein 35 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 PMID:36450800 NCBI chr19:46,860,997...47,005,077
Ensembl chr19:46,860,997...47,005,077
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP DNA:snp:cds:p.G61E (human)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
RGD
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... RGD:7800682 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G DAB1 DAB adaptor protein 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G EPHB2 EPH receptor B2 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:21931569 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar NCBI chr11:31,810,888...31,827,240 JBrowse link
G LOC110599580 CYP1B1 promoter IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar NCBI chr 2:38,076,132...38,077,840 JBrowse link
G LOC128772254 melanoma risk locus-associated MPRA allelic enhancer 2:38298139 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:11558822 PMID:11854439 PMID:12036985 PMID:15342693 PMID:16862072 More... NCBI chr 2:38,070,924...38,071,068 JBrowse link
G PAX6 paired box 6 ISO
IAGP
ISS
EXP
DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
OMIM:604229
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 More... RGD:8551891 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
JBrowse link
G PITRM1-AS1 PITRM1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr10:3,141,601...3,148,629
Ensembl chr10:3,141,632...3,167,972
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRPF8 pre-mRNA processing factor 8 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 More... NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RARG retinoic acid receptor gamma IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr12:53,210,569...53,232,209
Ensembl chr12:53,210,567...53,232,980
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Peters plus syndrome
OMIM:261540
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G LOC130009514 ATAC-STARR-seq lymphoblastoid silent region 5240 IAGP ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:28492532 NCBI chr13:31,199,726...31,200,625 JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 IAGP ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr16:55,509,072...55,586,666
Ensembl chr16:55,509,072...55,586,666
JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP
EXP
ClinVar Annotator: match by term: Winchester syndrome
ClinVar Annotator: match by term: MMP14-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 More... NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    sensory system disease 24596
      eye disease 8768
        corneal disease 503
          Corneal Opacity 92
            Axenfeld-Rieger syndrome type 1 59
            Mental Retardation Mietens Weber Type 0
            Microphthalmia and Mental Deficiency 0
            Peters anomaly + 23
            Rosenthal-Kloepfer Syndrome 0
            Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
            Winchester syndrome 3
            arcus senilis 1
            autosomal recessive cutis laxa type III + 2
Path 2
Term Annotations click to browse term
  disease 121157
    disease of anatomical entity 111928
      nervous system disease 58678
        Neurologic Manifestations 35780
          sensory system disease 24596
            eye disease 8768
              corneal disease 503
                Corneal Opacity 92
                  Axenfeld-Rieger syndrome type 1 59
                  Mental Retardation Mietens Weber Type 0
                  Microphthalmia and Mental Deficiency 0
                  Peters anomaly + 23
                  Rosenthal-Kloepfer Syndrome 0
                  Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
                  Winchester syndrome 3
                  arcus senilis 1
                  autosomal recessive cutis laxa type III + 2
paths to the root