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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:sclerocornea
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Accession:DOID:0060252 term browser browse the term
Definition:A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)
Synonyms:exact_synonym: isolated congenital sclerocornea
 narrow_synonym: SCLEROCORNEA, AUTOSOMAL RECESSIVE
 primary_id: MESH:C565209;   RDO:0013918
 xref: ORDO:91490



show annotations for term's descendants           Sort by:
sclerocornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543
JBrowse link
G RAD54L RAD54 like ISS OMIM:181700 MouseDO NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480
JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:19836009 PMID:24940034 PMID:28492532 PMID:32499604 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Anterior segment 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...110,307,157
JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Ocular anterior segment dysgenesis
CTD
ClinVar
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract ClinVar PMID:10655545 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
JBrowse link
G FOXC1 forkhead box C1 ISO
IAGP
ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar
RGD
PMID:28492532 PMID:28513611 PMID:32499604 PMID:10767326 RGD:8662365 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FOXE3 forkhead box E3 IAGP DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis
ClinVar
RGD
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... RGD:1598957 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G GJA8 gap junction protein alpha 8 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:21465660 PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis
ClinVar PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
G LOC126806590 MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:21465660 PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 3:4,814,075...4,815,274 JBrowse link
G LOC128772254 melanoma risk locus-associated MPRA allelic enhancer 2:38298139 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:11527932 PMID:18852424 PMID:24940937 PMID:25741868 PMID:27243976 More... NCBI chr 2:38,070,924...38,071,068 JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 More... NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PITX3 paired like homeodomain 3 IAGP
ISS
EXP
DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:9620774 PMID:18989383 PMID:18989383 RGD:11535067 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512
JBrowse link
G PXDN peroxidasin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852
JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G TSC1 TSC complex subunit 1 ISS MouseDO NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:28492532 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES
ClinVar PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:28492532 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 1 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 PITX3 paired like homeodomain 3 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
OMIM
ClinVar
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512
JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 ClinVar
OMIM
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 ClinVar PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP
EXP
ClinVar Annotator: match by term: Anterior segment dysgenesis 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial
ClinVar
CTD
OMIM
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G LOC129995600 ATAC-STARR-seq lymphoblastoid silent region 16824 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 3 ClinVar
G LOC129995601 ATAC-STARR-seq lymphoblastoid active region 23864 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 3 ClinVar PMID:9792859 PMID:25741868
anterior segment dysgenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 IAGP
EXP
ClinVar Annotator: match by term: Anterior segment dysgenesis 4
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 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 FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 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: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr11:31,810,888...31,827,240 JBrowse link
G LOC128772254 melanoma risk locus-associated MPRA allelic enhancer 2:38298139 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 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 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
OMIM
ClinVar
PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:8364574 More... NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 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 PTCH1 patched 1 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:1347096 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes
ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes
OMIM
ClinVar
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 More... NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G LOC128772254 melanoma risk locus-associated MPRA allelic enhancer 2:38298139 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes ClinVar PMID:2782041 PMID:9463332 PMID:9497261 PMID:10426814 PMID:10655546 More... NCBI chr 2:38,070,924...38,071,068 JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PXDN peroxidasin IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 7
ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:21474777 PMID:21907015 PMID:24939590 More... NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852
JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar
OMIM
PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 More... NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815
JBrowse link
G LOC126863239 MED14-independent group 3 enhancer GRCh37_chrX:39932994-39934193 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chr  X:40,073,741...40,074,940 JBrowse link
congenital aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK1 cytidine/uridine monophosphate kinase 1 IAGP ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 1:47,333,790...47,378,839
Ensembl chr 1:47,333,790...47,394,866
JBrowse link
G FOXE3 forkhead box E3 IAGP
ISS
EXP
ClinVar Annotator: match by term: Congenital primary aphakia
OMIM:610256
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
G STIL STIL centriolar assembly protein IAGP ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX1 visual system homeobox 1 IAGP
EXP
ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 More... NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141
JBrowse link
Peters anomaly term browser
Symbol Object Name 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...110,307,157
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: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:25741868 PMID:26467025 PMID:26893459 PMID:28492532 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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      eye disease 4940
        corneal disease 328
          sclerocornea 47
            Sclerocornea, Autosomal Dominant 0
            anterior segment dysgenesis + 44
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9728
            eye disease 4940
              corneal disease 328
                sclerocornea 47
                  Sclerocornea, Autosomal Dominant 0
                  anterior segment dysgenesis + 44
paths to the root