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GENE - TERM ANNOTATION REPORT

RGD ID: 732435
Species: Homo sapiens
RGD Object: Gene
Symbol: BBS2
Name: Bardet-Biedl syndrome 2
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:25541840 PMID:25741868 PMID:28492532 PMID:31877679
BBS2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:25741868 PMID:26467025 PMID:28492532
BBS2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:28492532
BBS2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophy 
BBS2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:25741868 PMID:28492532
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:25741868 PMID:28492532 PMID:28559085
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:12016587 PMID:20498079 PMID:28492532
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:12920096 PMID:19797195 PMID:20177705 PMID:21344540 PMID:21642631 PMID:24608809 PMID:25611614 PMID:25741868 PMID:26325687 PMID:26518167 PMID:27708425 PMID:28418496 PMID:28492532 PMID:29588463 PMID:31283077 PMID:31960602
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:16199547 PMID:20177705 PMID:24280758 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:33520300 PMID:33777945
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:15666242 PMID:20177705 PMID:21344540 PMID:24608809 PMID:25525159 PMID:25741868 PMID:26355662 PMID:26518167 PMID:27894351 PMID:28492532
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11567139 PMID:12677556 PMID:20498079 PMID:27894351 PMID:28492532 PMID:33777945 PMID:33921607
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:27659767
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:21344540 PMID:25741868 PMID:27353947 PMID:28492532
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:20120035 PMID:20177705 PMID:22773737 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:28559085
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:15666242 PMID:20177705 PMID:21463199 PMID:24608809 PMID:25541840 PMID:26518167 PMID:28492532 PMID:30029678
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:28374938 PMID:28492532
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11567139 PMID:19402160 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26467025 PMID:27659767 PMID:28492532 PMID:28559085 PMID:31456290 PMID:31530639 PMID:31980526 PMID:32037395 PMID:34906470 PMID:35112343 PMID:35886001
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:11567139 PMID:20177705 PMID:20498079 PMID:21344540 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30718709
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:11567139 PMID:12837689 PMID:20177705 PMID:21052717 PMID:21642631 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11567139 PMID:20498079 PMID:25741868 PMID:26355662 PMID:27894351 PMID:28492532 PMID:33777945 PMID:33921607
BBS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30718709
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