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GENE - TERM ANNOTATION REPORT

RGD ID: 1318463
Species: Homo sapiens
RGD Object: Gene
Symbol: SDHB
Name: succinate dehydrogenase complex iron sulfur subunit B
Acc ID: DOID:9004224
Term: Mitochondrial Complex II Deficiency Nuclear Type 4
Definition: A severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Caused by homozygous or compound heterozygous mutation in the succinate dehydrogenase complex subunit B gene (SDHB) on chromosome 1p36. (OMIM)
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)
SDHB IAGP 7240710OMIM  
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:11897817 PMID:25741868 PMID:28492532
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:25741868
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:25741868 PMID:28492532
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:25741868 PMID:27604842 PMID:28492532 PMID:34490615
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:25741868 PMID:28492532 PMID:32124427 PMID:36200007
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:18678321 PMID:19368708 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:28374168 PMID:28492532 PMID:30050099 PMID:34906457
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:17634472 PMID:22972948 PMID:25741868 PMID:26642834 PMID:26925370 PMID:27159321 PMID:27604842 PMID:28492532 PMID:34052969
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:24033266 PMID:25741868 PMID:28492532
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:14500403 PMID:16314641 PMID:16912137 PMID:17200167 PMID:17652212 PMID:18382370 PMID:18551016 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19454582 PMID:20208144 PMID:20592014 PMID:20614293 PMID:23083876 PMID:24509376 PMID:24939699 PMID:25695889 PMID:25741868 PMID:26259135 PMID:27539324 PMID:27604842 PMID:28492532 PMID:30050099 PMID:30877234 PMID:31365623 PMID:31666924 PMID:32741965 PMID:34466344 PMID:34906457
SDHB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4PMID:16912137 PMID:17848412 PMID:19215943 PMID:24033266 PMID:25741868 PMID:28492532
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