Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 CausalMutation disease CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 CausalMutation disease CLINVAR Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 2007
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 GeneticVariation disease UNIPROT Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 2007
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 GermlineCausalMutation disease ORPHANET Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 2007
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 2007
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 Biomarker disease CTD_human
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		0.100 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.030 Biomarker disease BEFREE Two weeks after SPS, intranasal NPY at 300 µg/rat, but not 150 µg which was effective after one week, reversed SPS triggered elevated anxiety. 30878321 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		0.030 GeneticVariation disease BEFREE The SPS-6 scores ≥9 and SIAS-6 scores ≥12 were considered indicative of social phobia and social interaction anxiety, respectively. 31675602 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.030 GeneticVariation group BEFREE The SPS-6 scores ≥9 and SIAS-6 scores ≥12 were considered indicative of social phobia and social interaction anxiety, respectively. 31675602 2019