Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
phenotype Finding 70 4 0.100 None 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe
phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.020 None 1.000 2 2017 2018
CUI: C0004310
Disease: Auditory Perceptual Disorders
Auditory Perceptual Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.020 None 1.000 2 2017 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.020 None 1.000 2 2016 2019
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 65 44 0.020 None 1.000 2 2016 2019
CUI: C0424101
Disease: Inattention
Inattention
phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 2017 2017
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.010 None 1.000 1 2005 2005
CUI: C0023015
Disease: Language Disorders
Language Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.010 None 1.000 1 2017 2017
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 23 0.010 None 1.000 1 2018 2018
Familial Hemophagocytic Lymphocytosis
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 35 6 0.010 None 1.000 1 2018 2018