Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014408
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 		0.400 CausalMutation disease CLINVAR
CUI: C4014408
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
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
CUI: C4014408
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
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
CUI: C4014408
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
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
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.300 Biomarker disease CTD_human
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 Biomarker disease BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		0.010 Biomarker disease BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017