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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Acp6
acid phosphatase 6, lysophosphatidic
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Amot
angiomotin
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr X:108,982,399...109,041,265
Ensembl chr X:108,984,022...109,041,272
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Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr16:46,269,025...46,271,971
Ensembl chr16:46,268,443...46,271,963
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Arhgef10l
Rho guanine nucleotide exchange factor 10 like
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr 5:152,792,247...152,935,255
Ensembl chr 5:152,792,252...152,919,538
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Atp6v1a
ATPase H+ transporting V1 subunit A
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
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Dcaf6
DDB1 and CUL4 associated factor 6
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr13:77,626,257...77,727,645
Ensembl chr13:77,626,307...77,727,512
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:25741868 PMID:26350515 PMID:27479843 PMID:33597769
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Gabrb2
gamma-aminobutyric acid type A receptor subunit beta 2
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr10:26,936,592...27,156,141
Ensembl chr10:26,936,551...27,151,251
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Kctd19
potassium channel tetramerization domain containing 19
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
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Pgap1
post-GPI attachment to proteins inositol deacylase 1
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:25804403 PMID:26350515
NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
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Rere
arginine-glutamic acid dipeptide repeats
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515 PMID:27087320
NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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Slc1a1
solute carrier family 1 member 1
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
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Slc25a16
solute carrier family 25 member 16
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr20:25,661,158...25,717,558
Ensembl chr20:25,662,055...25,716,319
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Sox5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Uhmk1
U2AF homology motif kinase 1
ISO
ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability
ClinVar
PMID:26350515
NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all