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.
G
Ahr
aryl hydrocarbon receptor
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:23301081
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26029869
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
G
Myo7a
myosin VIIA
ISO
associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human)
RGD
PMID:21901789
RGD:11537385
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
G
Pax6
paired box 6
ISO
DNA:snp:intron:IVS4+5G>C (human)
RGD
PMID:15629294
RGD:8552281
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
G
Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Congenital nystagmus
ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
G
Rpe65
retinoid isomerohydrolase RPE65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32971638
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
G
Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
G
Frmd7
FERM domain containing 7
ISO ISS
OMIM:310700 ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:25678693 PMID:25741868 PMID:25916882 PMID:27081518 PMID:28492532 PMID:30015830 PMID:30025138 PMID:30942644 More...
NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
G
Gpr143
G protein-coupled receptor 143
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
OMIM CTD ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
G
Robo1
roundabout guidance receptor 1
ISO
OMIM
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
G
Atoh7
atonal bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:28492532 PMID:31696227
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29385733
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
G
Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:31696227
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
G
Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:24045842
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
G
Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 PMID:9158138 PMID:10766867 PMID:11295837 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:27734839 PMID:28378818 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:35803923 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
G
Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 PMID:28546991 PMID:29345414 PMID:32032626 PMID:33498813 More...
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
G
Six6
SIX homeobox 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
G
Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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
G
Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism 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 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 or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
OMIM CTD ClinVar
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 PMID:10441571 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18776953 PMID:22361317 PMID:23404109 PMID:25741868 PMID:26604670 PMID:27013732 PMID:28492532 PMID:31161946 PMID:32360764 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
G
Kidins220
kinase D-interacting substrate 220
ISO
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 More...
NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
G
Fgf14
fibroblast growth factor 14
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Fgf14
fibroblast growth factor 14
ISO
OMIM
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Fgf14
fibroblast growth factor 14
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:193003 ClinVar Annotator: match by term: Nystagmus 4, congenital, autosomal dominant | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
CTD MouseDO ClinVar
PMID:5470364 PMID:12489043 PMID:15470364 PMID:17978045 PMID:21681106 PMID:25566820 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:32162847 PMID:194719761 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar
PMID:25741868
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21118
physical disorder
4898
congenital nystagmus
19
Amyotrophic Dystonic Paraplegia
0
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
0
Brachydactyly-Nystagmus-Cerebellar Ataxia
0
Congenital Nystagmus 8
1
Foveal Hypoplasia +
7
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
0
Isolated Microphthalmia with Cataract 2
2
Mental Retardation Mietens Weber Type
0
Nystagmus 5, Infantile Periodic Alternating
0
O'Donnell Pappas Syndrome
2
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
1
autosomal recessive congenital nystagmus
1
congenital nystagmus 1
1
congenital nystagmus 2
0
congenital nystagmus 3
0
congenital nystagmus 5
0
congenital nystagmus 6
1
congenital nystagmus 7
0
spinocerebellar ataxia type 27 +
2
Path 2
disease
21118
Pathological Conditions, Signs and Symptoms
13262
Signs and Symptoms
10744
Neurologic Manifestations
9982
sensory system disease
6883
eye disease
3446
ocular motility disease
220
pathologic nystagmus
100
congenital nystagmus
19
Amyotrophic Dystonic Paraplegia
0
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
0
Brachydactyly-Nystagmus-Cerebellar Ataxia
0
Congenital Nystagmus 8
1
Foveal Hypoplasia +
7
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
0
Isolated Microphthalmia with Cataract 2
2
Mental Retardation Mietens Weber Type
0
Nystagmus 5, Infantile Periodic Alternating
0
O'Donnell Pappas Syndrome
2
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
1
autosomal recessive congenital nystagmus
1
congenital nystagmus 1
1
congenital nystagmus 2
0
congenital nystagmus 3
0
congenital nystagmus 5
0
congenital nystagmus 6
1
congenital nystagmus 7
0
spinocerebellar ataxia type 27 +
2