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GENE - TERM ANNOTATION REPORT

RGD ID: 1345263
Species: Homo sapiens
RGD Object: Gene
Symbol: PROM1
Name: prominin 1
Acc ID: HP:0000510
Term: Rod-cone dystrophy
Definition: An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:20212494
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 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:26355662 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:25910913 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:26702251
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:17605048 PMID:19718270 PMID:23591405 PMID:24154662 PMID:24474277 PMID:25474345 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532 PMID:30215852
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID: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

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:25741868 PMID:28418496 PMID:28492532 PMID:32531858
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:28041643 PMID:28492532 PMID:32581362
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28041643
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532 PMID:32531858 PMID:35951719
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID: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

PMID:30718709
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:17605048 PMID:19718270 PMID:24154662 PMID:24938718 PMID:25474345 PMID:25741868 PMID:28492532 PMID:30718709
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532 PMID:30718709
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532 PMID:30718709
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID: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: Cone-rod dystrophy

PMID: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: Cone-rod dystrophy

PMID:17605048 PMID:19718270 PMID:24154662 PMID:24265693 PMID:25474345 PMID:25741868 PMID:28492532 PMID:36909829
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532 PMID:32820593
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:24265693 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28095140 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:26161267 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:28492532 PMID:32531858
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

 
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy

PMID:25741868 PMID:36909829
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:17605048 PMID:26872967 PMID:28041643
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 PMID:18654668 PMID:20393116 PMID:20859302 PMID:22183351 PMID:22581970 PMID:25356976 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30718709 PMID:34906470 PMID:35947379 PMID:36909829 PMID:9634506
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532
PROM1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:28492532
PROM1 IAGP 8699517HPO OMIM:612095
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