MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
|
24385928 |
2013 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
|
24385928 |
2013 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
|
24385928 |
2013 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
|
21156761 |
2011 |
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
|
19503088 |
2009 |
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
|
17804836 |
2007 |
Aggressive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
POLYDACTYLY, POSTAXIAL
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Metabolic acidosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Renal Tubular Acidosis, Type II
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Upward slant of palpebral fissure
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperactive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Synophrys
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Epicanthus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Depressed nasal bridge
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Poor speech
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Neonatal Hypotonia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Ubiquinone dehydrogenase deficiency
|
0.020 |
Biomarker
|
disease |
BEFREE |
Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency.
|
28804536 |
2017 |
Ubiquinone dehydrogenase deficiency
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Here, we used Massively Parallel Sequencing to identify a homozygous splicing mutation in the gene encoding Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 2 (UQCC2) in a consanguineous Lebanese patient displaying complex III deficiency, severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction.
|
24385928 |
2013 |