Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		0.100 Biomarker phenotype HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker disease HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		0.100 Biomarker phenotype HPO
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.020 GeneticVariation disease BEFREE The present study comprehensively analyzed a recently identified IMS protein cytochrome <i>c</i> oxidase assembly factor 7 (COA7), or RESpiratory chain Assembly 1 (RESA1) factor that is associated with a rare form of mitochondrial leukoencephalopathy and complex IV deficiency. 30885959 2019
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 GeneticVariation group BEFREE The present study comprehensively analyzed a recently identified IMS protein cytochrome <i>c</i> oxidase assembly factor 7 (COA7), or RESpiratory chain Assembly 1 (RESA1) factor that is associated with a rare form of mitochondrial leukoencephalopathy and complex IV deficiency. 30885959 2019
CUI: C0004310
Disease: Auditory Perceptual Disorders
Auditory Perceptual Disorders 		0.020 GeneticVariation group BEFREE The pediatric and adult versions of the SCAN-3 test (Keith, 2009a, 2009b) are widely used to screen and diagnose auditory processing disorders. 29800988 2018
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.020 Biomarker disease BEFREE The SCAN-3:C and SCAN-3:A test batteries were used to assess auditory processing abilities; Lucid Ability test for NVIQ; Children's Communication Checklist-2 (CCC-2) for language ability; Swanson Nolan and Pelham-IV Rating Scale (SNAP-IV) for ADHD; and the manual dexterity components of the Movement Assessment Battery for Children-2 (MABC-2) as a screening tool for DCD. 30262367 2018
CUI: C0004310
Disease: Auditory Perceptual Disorders
Auditory Perceptual Disorders 		0.020 GeneticVariation group BEFREE The outcomes of the SCAN-3 APD test battery, Swanson Nolan and Pelham-IV parental rating (SNAP-IV) and Children's Communication Checklist-2 (CCC-2) were analysed. 28964292 2017
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.020 Biomarker disease BEFREE Children with symptoms of combined ADHD plus LI performed significantly poorly (p < 0.05) compared to inattention ADHD plus LI in Filtered Words (FW) sub-test, but not in the rest of the SCAN-3 sub-tests. 28964292 2017
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.020 GeneticVariation disease BEFREE COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. 27683825 2016
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 GeneticVariation group BEFREE COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. 27683825 2016
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		0.010 Biomarker disease BEFREE The SCAN-3:C and SCAN-3:A test batteries were used to assess auditory processing abilities; Lucid Ability test for NVIQ; Children's Communication Checklist-2 (CCC-2) for language ability; Swanson Nolan and Pelham-IV Rating Scale (SNAP-IV) for ADHD; and the manual dexterity components of the Movement Assessment Battery for Children-2 (MABC-2) as a screening tool for DCD. 30262367 2018