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
Nono
non-POU domain containing, octamer-binding
ISO
DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13, (human)
RGD
PMID:27550220
RGD:155882461
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
G
Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
G
Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
G
Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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C5h1orf127
similar to human chromosome 1 open reading frame 127
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:25741868 PMID:34768622
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
G
Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
G
Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia
OMIM CTD ClinVar
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:15319456 PMID:15358621 PMID:16019685 PMID:17295247 PMID:17764085 PMID:18342287 PMID:18716025 PMID:21465648 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26014430 PMID:26294094 PMID:27406248 PMID:28492532 PMID:30622330 PMID:32753700 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
Developmental Disease
14401
congenital heart disease
1349
Congenital Heart Defects, X-Linked
14
Congenital Heart Defects, Multiple Types, 1, X-Linked
13
Path 2
disease
18969
Developmental Disease
14401
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
13418
genetic disease
13036
monogenic disease
10421
X-linked monogenic disease
1370
Congenital Heart Defects, X-Linked
14
Congenital Heart Defects, Multiple Types, 1, X-Linked
13