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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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by OMIM:306955 ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar OMIM
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532
NCBI chr X:140,875,191...140,888,344
Ensembl chr X:140,878,216...140,888,795
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 ClinVar Annotator: match by OMIM:614980
OMIM ClinVar
PMID:20493459 PMID:25326635 PMID:25741868 PMID:32860008
NCBI chr 1:1,999,574...2,017,574
Ensembl chr 1:1,999,596...2,073,896
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3
ClinVar
PMID:25741868 PMID:26467025 PMID:27751358 PMID:28492532 PMID:28724667 PMID:28779002 PMID:29356917 PMID:29922827 PMID:30287823
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Nr2f2
nuclear receptor subfamily 2, group F, member 2
ISO
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4
OMIM ClinVar
PMID:25741868 PMID:27363585 PMID:28492532 PMID:29222010 PMID:29478779 PMID:29663647
NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
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Gata5
GATA binding protein 5
ISO
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
ClinVar OMIM
PMID:22961344 PMID:23031282 PMID:23175127 PMID:24638895 PMID:25741868
NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7
OMIM ClinVar
PMID:28991257 PMID:30232381
NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3
ClinVar
PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3
OMIM ClinVar
PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16085
Developmental Diseases
9586
congenital heart disease
1074
Congenital Heart Defects, Multiple Types
8
Congenital Heart Defects, Multiple Types, 1, X-Linked
1
Congenital Heart Defects, Multiple Types, 2
1
Congenital Heart Defects, Multiple Types, 3
1
Congenital Heart Defects, Multiple Types, 4
1
Congenital Heart Defects, Multiple Types, 5
1
Congenital Heart Defects, Multiple Types, 7
1
dextro-looped transposition of the great arteries 3
2
Path 2
disease
16085
Developmental Diseases
9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8437
Congenital Abnormalities
4795
Cardiovascular Abnormalities
1128
congenital heart disease
1074
Congenital Heart Defects, Multiple Types
8
Congenital Heart Defects, Multiple Types, 1, X-Linked
1
Congenital Heart Defects, Multiple Types, 2
1
Congenital Heart Defects, Multiple Types, 3
1
Congenital Heart Defects, Multiple Types, 4
1
Congenital Heart Defects, Multiple Types, 5
1
Congenital Heart Defects, Multiple Types, 7
1
dextro-looped transposition of the great arteries 3
2