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
Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
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: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
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: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
G
Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
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: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
G
Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
G
Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
G
Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
G
Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Visceral heterotaxia
ClinVar
PMID:21465648 PMID:24123890 PMID:28492532
NCBI chr X:134,979,657...134,996,007
G
Zic3
Zic family member 3
ISO
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 ClinVar
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:21465648 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 More...
NCBI chr X:136,123,662...136,134,295
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
18133
Developmental Disease
12879
congenital heart disease
1191
Congenital Heart Defects, X-Linked
12
Congenital Heart Defects, Multiple Types, 1, X-Linked
12
Path 2
disease
18133
Developmental Disease
12879
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
11579
genetic disease
11109
monogenic disease
8599
X-linked monogenic disease
1194
Congenital Heart Defects, X-Linked
12
Congenital Heart Defects, Multiple Types, 1, X-Linked
12