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GENE - TERM ANNOTATION REPORT

RGD ID: 1345263
Species: Homo sapiens
RGD Object: Gene
Symbol: PROM1
Name: prominin 1
Acc ID: DOID:0110376
Term: retinitis pigmentosa 41
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10587575 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PROM1 IAGP 7240710OMIM  
PROM1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:25741868 PMID:26355662 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:25910913 PMID:28492532
PROM1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 PMID:30588538
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:19718270 PMID:24154662 PMID:25472526 PMID:25474345 PMID:25741868 PMID:28492532 PMID:31129250
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:25741868 PMID:28418496 PMID:28492532 PMID:32531858
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:19718270 PMID:24154662 PMID:25356976 PMID:25474345 PMID:28041643 PMID:28492532 PMID:29555955
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532 PMID:31199449
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532 PMID:29343940 PMID:31054281
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:19718270 PMID:24154662 PMID:24938718 PMID:25474345 PMID:25741868 PMID:28492532 PMID:31054281
PROM1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:25741868
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:24516651 PMID:25474345 PMID:25741868 PMID:28492532 PMID:30588538 PMID:31129250 PMID:36909829
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:19718270 PMID:20042663 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532 PMID:31129250 PMID:36909829
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532 PMID:30578500 PMID:36909829
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:25741868 PMID:28095140 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17576681 PMID:28492532 PMID:30588538 PMID:9536098
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:28492532
PROM1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:10587575
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 41PMID:17605048 PMID:26872967 PMID:28041643
PROM1 ISSProm1 (Mus musculus)13592920MouseDOOMIM:612095 
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