DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
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: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		disease Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 12 1 2003 2017
CUI: C4749653
Disease: Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy type 7 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2003 2003
CUI: C1514517
Disease: Prostate Stromal Proliferation of Uncertain Malignant Potential
Prostate Stromal Proliferation of Uncertain Malignant Potential 		disease Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		phenotype Finding 3 5 0.100 None 0 3
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.010 None 1.000 1 1998 1998
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 25 0.010 None 1.000 1 1998 1998
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2 2010 2010
CUI: C1707544
Disease: Cutaneous Fibrous Histiocytoma, Epithelioid Variant
Cutaneous Fibrous Histiocytoma, Epithelioid Variant 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0270763
Disease: Familial Motor Neuron Disease
Familial Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 9 2 0.020 None 1.000 2 2014 2016
CUI: C4522245
Disease: Atypical Spitz Nevus
Atypical Spitz Nevus 		disease Neoplastic Process 9 0.010 None 1.000 1 2015 2015
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		phenotype Finding 10 2 0.100 None 0
CUI: C0002690
Disease: Amputation Stumps
Amputation Stumps 		disease Acquired Abnormality 11 0.010 None 1.000 1 2015 2015
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 179 0.010 None 1.000 1 1998 1998
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0233522
Disease: Inappropriate behavior
Inappropriate behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype Nervous System Diseases Finding 15 0.100 None 0
CUI: C3805715
Disease: Short stepped shuffling gait
Short stepped shuffling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.100 None 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 16 1 0.100 None 0
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		disease Disease or Syndrome 18 2 0.100 None 0
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 19 9 0.800 None 1.000 29 9 2003 2018
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 150 0.010 None 1.000 1 1998 1998
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.100 None 0
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype Finding 21 0.100 None 0
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		disease Nervous System Diseases Disease or Syndrome 23 7 0.010 None 1.000 1 2009 2009