MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.700 limited 1.000 21 2 2009 2019
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21
disease Disease or Syndrome 1 4 0.600 None 1.000 5 4 2009 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 18 0.400 strong 1.000 10 1 2009 2018
CUI: C1853723
Disease: MYOPATHY, DISTAL 2
MYOPATHY, DISTAL 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.350 None 1.000 5 1998 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.300 limited 1.000 1 2009 2009
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.120 None 1.000 2 1 2009 2017
CUI: C0019825
Disease: Hoarseness
Hoarseness
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.120 None 1.000 2 1 2009 2017
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 0.100 None 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 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: C1856507
Disease: Bulbar signs
Bulbar signs
phenotype Finding 33 1 0.100 None 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
phenotype Finding 58 5 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
Partial Paralysis (Paresis) Vocal Cords
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 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: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 93 3 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration
phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
Abnormal lower motor neuron morphology
phenotype Finding 23 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
phenotype Finding 87 0.100 None 0