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GENE - TERM ANNOTATION REPORT

CRRD ID: 1604786
Species: Homo sapiens
CRRD Object: Gene
Symbol: CEP290
Name: centrosomal protein 290
Acc ID: DOID:0070118
Term: Meckel syndrome 4
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17564974
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 7240710OMIM  
 IAGP 11070805CRRDDNA:frameshift mutation:exon:c.5489del (human)

 
 IAGPRGD:100480808554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17345604
 IAGPRGD:100486618554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:21068128
 IAGPRGD:100488228554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17345604
 IAGPRGD:104487058554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:25741868, PMID:26092869
 IAGPRGD:104487208554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:26092869
 IAGPRGD:104487478554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:25741868, PMID:26092869
 IAGPRGD:104487578554872ClinVarClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4

PMID:25741868, PMID:26092869
 IAGPRGD:113455578554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:16909394, PMID:17345604, PMID:20690115, PMID:23847139, PMID:28492532
 IAGPRGD:115820518554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:25741868
 IAGPRGD:116234018554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:25741868, PMID:28492532
 IAGPRGD:116325278554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:116325938554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:116335908554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:116336958554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:25741868, PMID:28492532
 IAGPRGD:116337478554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:116339598554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:134742508554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:135153928554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:135156108554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:28492532
 IAGPRGD:135161498554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:135165838554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:136109298554872ClinVarClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4

PMID:21153841, PMID:23351400, PMID:25741868, PMID:26047050
 IAGPRGD:136741588554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
 IAGPRGD:85561308554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17345604, PMID:17564974
 IAGPRGD:85561318554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974
 IAGPRGD:85561338554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17705300
 IAGPRGD:85953778554872ClinVarClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4

PMID:16682970, PMID:16682973, PMID:17564967, PMID:18414213, PMID:25741868, PMID:26092869, PMID:28492532
 IAGPRGD:85953798554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:23344081, PMID:25741868, PMID:28492532
 IAGPRGD:85953828554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974
 IAGPRGD:86174578554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974, PMID:19466712, PMID:25741868, PMID:26092869
 IAGPRGD:86174588554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:21068128, PMID:28492532
 IAGPRGD:86174598554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974
 IAGPRGD:86174608554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974
 IAGPRGD:86174618554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974, PMID:19466712, PMID:19764032, PMID:26092869, PMID:28492532
 IAGPRGD:86174628554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:19466712
 IAGPRGD:86174638554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17564974
 IAGPRGD:86174648554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:19466712
 IAGPRGD:86174668554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085
 IAGPRGD:86174678554872ClinVarClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4

PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:21245082, PMID:25741868, PMID:28041643
 IAGPRGD:86174688554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:19466712
 IAGPRGD:96927748554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

PMID:26092869
 IAGPRGD:96927808554872ClinVarClinVar Annotator: match by term: Meckel syndrome type 4

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.