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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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868 PMID:31792352
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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Eln
elastin
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:10712197 PMID:23656349 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16885183
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all