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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 chr17:31,150,628...31,226,569
Ensembl chr17:36,297,164...36,372,087 		JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102 		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 chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391 		JBrowse link
G EPN2 epsin 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,777,430...31,874,469
Ensembl chr17:36,942,381...37,038,509 		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 chr17:32,237,065...32,273,015
Ensembl chr17:37,169,509...37,204,872 		JBrowse link
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:32,215,214...32,219,802 JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,729,429...31,736,216
Ensembl chr17:36,894,146...36,899,969 		JBrowse link
G MFAP4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,725,732...31,729,528
Ensembl chr17:36,890,778...36,893,230 		JBrowse link
G PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:32,316,289...32,392,531
Ensembl chr17:37,247,504...37,320,704 		JBrowse link
G RNF112 ring finger protein 112 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,688,381...31,701,675
Ensembl chr17:36,860,202...36,894,877 		JBrowse link
G SLC47A1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,532,821...31,577,523
Ensembl chr17:36,695,965...36,741,618 		JBrowse link
G SLC47A2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:31,412,990...31,454,667
Ensembl chr17:36,560,881...36,599,133 		JBrowse link
G SLC5A10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr17:32,219,877...32,289,598
Ensembl chr17:37,152,047...37,221,554 		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 chr17:30,800,973...31,114,322
Ensembl chr17:35,951,060...36,253,178 		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 chr17:31,262,168...31,362,251
Ensembl chr17:36,409,312...36,507,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    syndrome 10733
      ciliopathy 1033
        Meckel syndrome 50
          Meckel Syndrome 9 16
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10862
            ciliopathy 1033
              Meckel syndrome 50
                Meckel Syndrome 9 16
paths to the root