Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation phenotype 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
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: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		0.010 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
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
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.010 Biomarker disease BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		0.010 Biomarker disease BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C4086158
Disease: Childhood Ganglioneuroblastoma
Childhood Ganglioneuroblastoma 		0.010 Biomarker disease BEFREE Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). 28318056 2017
CUI: C4700085
Disease: Chronic wasting disease (CWD)
Chronic wasting disease (CWD) 		0.010 Biomarker disease BEFREE To further characterize an inoculum source used for ongoing CWD studies and to determine how the readouts from each of these assays compare, we assayed a CWD-positive brain pool homogenate (CBP6) and a mouse dilutional bioassay of this homogenate using the above detection methods. 31071138 2019
CUI: C4014408
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 		0.400 CausalMutation disease CLINVAR
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