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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.
Term:Meckel Syndrome 9
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Accession:DOID:9001634 term browser browse the term
Synonyms:exact_synonym: MKS9;   Meckel Syndrome, Type 9
 xref: MIM:614209;   MONDO:0013630


show annotations for term's descendants           Sort by:
Meckel Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:47,044,819...47,108,153
Ensembl chr10:47,044,819...47,108,203 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,392,464...46,402,151
Ensembl chr10:46,392,411...46,402,151 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,427,789...46,448,449
Ensembl chr10:46,407,993...46,448,648 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 OMIM
ClinVar		 PMID:21493627 PMID:24886560 PMID:25741868 PMID:26092869 PMID:28492532 More... NCBI chr10:46,685,410...46,698,580
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,697,238...46,759,128
Ensembl chr10:46,697,238...46,759,092 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,862,983...46,887,499
Ensembl chr10:46,862,369...46,886,277 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,832,390...46,851,523 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,669,721...46,675,768
Ensembl chr10:46,669,721...46,675,806 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,666,552...46,669,613
Ensembl chr10:46,655,722...46,669,740 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,910,282...46,945,401
Ensembl chr10:46,910,285...46,945,331 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,620,602...46,655,745
Ensembl chr10:46,620,602...46,627,528 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,533,580...46,590,128
Ensembl chr10:46,533,583...46,587,096 		JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,490,262...46,532,954
Ensembl chr10:46,489,831...46,533,425 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,851,527...46,898,460
Ensembl chr10:46,851,527...46,899,277 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:47,138,351...47,412,311
Ensembl chr10:47,138,398...47,412,319 		JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,951,038...47,029,844
Ensembl chr10:46,951,038...47,029,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      ciliopathy 1034
        Meckel syndrome 54
          Meckel Syndrome 9 16
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            ciliopathy 1034
              Meckel syndrome 54
                Meckel Syndrome 9 16
paths to the root