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GENE - TERM ANNOTATION REPORT

RGD ID: 732480
Species: Homo sapiens
RGD Object: Gene
Symbol: HSPB1
Name: heat shock protein family B (small) member 1
Acc ID: DOID:10595
Term: Charcot-Marie-Tooth disease
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Definition Source(s): https://www.genome.gov/11009201 "DO" "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "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)
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:17623484 PMID:22176143 PMID:25741868 PMID:26467025 PMID:28492532
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:25741868 PMID:28492532 PMID:32376792
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:12372593 PMID:15122254 PMID:20178975 PMID:21611841 PMID:22176143 PMID:22521462 PMID:24607769 PMID:25547330 PMID:25741868 PMID:26467025 PMID:26989944 PMID:28492532
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:15122254 PMID:22734906 PMID:23728742 PMID:26467025 PMID:27816334 PMID:28077174 PMID:28144995 PMID:28492532 PMID:30373780
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25429913 PMID:25741868 PMID:26467025 PMID:27816334 PMID:28000086 PMID:28379183 PMID:28492532 PMID:28797631
HSPB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:25741868 PMID:26467025 PMID:28492532
HSPB1 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: Charcot-Marie-Tooth diseasePMID:25741868 PMID:28492532
HSPB1 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: Charcot-Marie-Tooth diseasePMID:25741868
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:25741868 PMID:26986878 PMID:28144995 PMID:28492532 PMID:31069529
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:20870250 PMID:22176143 PMID:26467025 PMID:26989944 PMID:27862672 PMID:28144995 PMID:28492532
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:9536098
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:25741868 PMID:26467025 PMID:28492532 PMID:32376792
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:18832141 PMID:21971574 PMID:22176143 PMID:22484489 PMID:23379525 PMID:24607769 PMID:24719117 PMID:25741868 PMID:25965061 PMID:25999205 PMID:26077850 PMID:26467025 PMID:27816334 PMID:28144995 PMID:28492532 PMID:28595321 PMID:29381233 PMID:30758704 PMID:31573509 PMID:32301006 PMID:32323160
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:15122254 PMID:17881652 PMID:18832141 PMID:23963299 PMID:25741868 PMID:27816334 PMID:28492532
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25429913 PMID:25741868 PMID:26467025 PMID:28000086 PMID:28379183 PMID:28492532 PMID:31573509
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:21149811 PMID:25741868
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:21149811
HSPB1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:22176143
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:22176143 PMID:25741868
HSPB1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:25614874
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:18952241 PMID:23643870 PMID:25088881 PMID:28000086 PMID:28492532
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:22206013
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:19435728 PMID:22176143 PMID:22734906 PMID:25741868 PMID:28144995 PMID:28492532 PMID:29381233 PMID:33686258
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:11528513 PMID:15122254 PMID:17881652 PMID:18587268 PMID:18832141 PMID:20178975 PMID:21785432 PMID:23963299 PMID:24505562 PMID:25741868 PMID:26467025 PMID:28105056 PMID:28144995 PMID:28492532 PMID:31630804 PMID:32334137 PMID:33943041 PMID:35328016
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:15122254 PMID:18325928 PMID:25741868 PMID:28144995 PMID:28492532 PMID:29381233
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:18832141 PMID:23530264 PMID:23643870 PMID:24607769 PMID:25741868 PMID:26141737 PMID:26467025 PMID:26752306 PMID:26989944 PMID:27816334 PMID:27830184 PMID:28492532 PMID:28595321 PMID:28702508 PMID:29381233 PMID:29547183
HSPB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:15122254 PMID:16215937 PMID:20178975 PMID:20660910 PMID:21983720 PMID:22031878 PMID:23728742 PMID:25025039 PMID:25741868 PMID:26675522 PMID:28492532
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