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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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:17623484
PMID:22176143
PMID:25741868
PMID:26467025
PMID:28492532
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:25741868
PMID:28492532
PMID:32376792
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:15122254
PMID:22734906
PMID:23728742
PMID:26467025
PMID:27816334
PMID:28077174
PMID:28144995
PMID:28492532
PMID:30373780
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:25741868
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:25741868
PMID:26986878
PMID:28144995
PMID:28492532
PMID:31069529
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:20870250
PMID:22176143
PMID:26467025
PMID:26989944
PMID:27862672
PMID:28144995
PMID:28492532
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:17576681
PMID:25741868
PMID:26467025
PMID:28492532
PMID:9536098
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:25741868
PMID:26467025
PMID:28492532
PMID:32376792
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:15122254
PMID:17881652
PMID:18832141
PMID:23963299
PMID:25741868
PMID:27816334
PMID:28492532
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:21149811
PMID:25741868
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:21149811
HSPB1
IAGP
(Homo sapiens)
or
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:22176143
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:22176143
PMID:25741868
HSPB1
IAGP
(Homo sapiens)
or
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:25614874
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:18952241
PMID:23643870
PMID:25088881
PMID:28000086
PMID:28492532
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:22206013
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:19435728
PMID:22176143
PMID:22734906
PMID:25741868
PMID:28144995
PMID:28492532
PMID:29381233
PMID:33686258
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID:15122254
PMID:18325928
PMID:25741868
PMID:28144995
PMID:28492532
PMID:29381233
HSPB1
IAGP
(Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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)
8554872
ClinVar
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
PMID: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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