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.
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Anophthalmia
ClinVar
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Otx2
orthodenticle homeobox 2
ISO
ClinVar Annotator: match by term: Anophthalmia
ClinVar
PMID:29178648
NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Anophthalmia
ClinVar
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Rax
retina and anterior neural fold homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15789424
NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
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Sox2
SRY-box transcription factor 2
ISO
DNA:nonsense mutations: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21532573 PMID:12612584
RGD:1599088
NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Bcor
BCL6 co-repressor
ISO
DNA:missense mutation:exon:254C>T (p.P85L) (human) ClinVar Annotator: match by term: Microphthalmia, syndromic 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25741868 PMID:28492532 PMID:15004558
RGD:1600504
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
OMIM ClinVar
PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 PMID:30842225 More...
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Aldh1a3
aldehyde dehydrogenase 1 family, member A3
ISO
ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome
ClinVar
PMID:25741868 PMID:28590501
NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9
CTD ClinVar OMIM
PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 PMID:19213032 PMID:19309693 PMID:19839040 PMID:22686418 PMID:25741868 PMID:26373900 PMID:28492532 More...
NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Wnt7b
Wnt family member 7B
ISO
ClinVar Annotator: match by term: Matthew-Wood syndrome
ClinVar
PMID:25741868
NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18145
sensory system disease
6393
eye disease
2932
Eye Abnormalities
461
Anophthalmia
10
Anophthalmia Plus Syndrome
0
Arroyo Garcia Cimadevilla Syndrome
0
Cerebrooculonasal Syndrome
0
Leichtman Wood Rohn Syndrome
0
Samson Viljoen Syndrome
0
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
0
syndromic microphthalmia 1
2
syndromic microphthalmia 9
3
Path 2
disease
18145
disease of anatomical entity
17519
nervous system disease
13182
sensory system disease
6393
eye disease
2932
Eye Abnormalities
461
Anophthalmia
10
Anophthalmia Plus Syndrome
0
Arroyo Garcia Cimadevilla Syndrome
0
Cerebrooculonasal Syndrome
0
Leichtman Wood Rohn Syndrome
0
Samson Viljoen Syndrome
0
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
0
syndromic microphthalmia 1
2
syndromic microphthalmia 9
3