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
CTD Direct Evidence: marker/mechanism
CTD
PMID:23301081
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26029869
NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
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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 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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Pax6
paired box 6
ISO
DNA:snp:intron:IVS4+5G>C (human)
RGD
PMID:15629294
RGD:8552281
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Frmd7
FERM domain containing 7
ISO
ClinVar Annotator: match by term: Infantile nystagmus, X-linked CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:310700
OMIM ClinVar CTD
PMID:16020310 PMID:17013395 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25741868 PMID:25916882 PMID:28492532
NCBI chr X:138,095,707...138,149,702
Ensembl chr X:138,098,185...138,148,967
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Gpr143
G protein-coupled receptor 143
ISO
ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked ClinVar Annotator: match by OMIM:300814
OMIM ClinVar
PMID:17516023 PMID:18523664 PMID:19390656 PMID:25741868
NCBI chr X:23,668,363...23,693,162
Ensembl chr X:23,668,363...23,693,162
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Atoh7
atonal bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:28492532 PMID:31696227
NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
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Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:25741868
NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:31696227
NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:24045842
NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Foveal hypoplasia 2 ClinVar Annotator: match by OMIM:609218 ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
OMIM ClinVar
PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868
NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by OMIM:212550 ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar
NCBI chr 3:95,733,810...95,954,987
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Pax6
paired box 6
ISO
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 with cataract ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies ClinVar Annotator: match by OMIM:136520
OMIM ClinVar
PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Kidins220
kinase D-interacting substrate 220
ISO
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
ClinVar OMIM
PMID:25741868 PMID:27005418 PMID:28492532
NCBI chr 6:44,225,142...44,322,938
Ensembl chr 6:44,225,233...44,322,938
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16918
physical disorder
2958
congenital nystagmus
14
Amyotrophic Dystonic Paraplegia
0
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
0
Brachydactyly-Nystagmus-Cerebellar Ataxia
0
Foveal Hypoplasia +
7
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
0
Isolated Microphthalmia with Cataract 2
1
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
0
congenital nystagmus 1
1
congenital nystagmus 2
0
congenital nystagmus 3
0
congenital nystagmus 4
0
congenital nystagmus 5
0
congenital nystagmus 6
1
congenital nystagmus 7
0
Path 2
disease
16918
disease of anatomical entity
16286
nervous system disease
11864
peripheral nervous system disease
2421
neuropathy
2233
cranial nerve disease
416
ocular motility disease
133
pathologic nystagmus
31
congenital nystagmus
14
Amyotrophic Dystonic Paraplegia
0
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
0
Brachydactyly-Nystagmus-Cerebellar Ataxia
0
Foveal Hypoplasia +
7
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
0
Isolated Microphthalmia with Cataract 2
1
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
0
congenital nystagmus 1
1
congenital nystagmus 2
0
congenital nystagmus 3
0
congenital nystagmus 4
0
congenital nystagmus 5
0
congenital nystagmus 6
1
congenital nystagmus 7
0