Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0003873
Disease: Rheumatoid Arthritis
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
CUI: C0003873
Disease: Rheumatoid Arthritis
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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
0.100 Biomarker disease HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
0.100 Biomarker phenotype HPO
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.100 Biomarker disease HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.100 Biomarker phenotype HPO
CUI: C0431447
Disease: Synophrys
Synophrys
0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech
0.100 Biomarker phenotype HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
0.100 Biomarker disease HPO
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
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
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
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