ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
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: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		disease Disease or Syndrome 1 3 0.700 None 1.000 11 3 2001 2015
CUI: C0270804
Disease: Spastic Diplegia Cerebral Palsy
Spastic Diplegia Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C4025809
Disease: Penetrating foot ulcers
Penetrating foot ulcers 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1970009
Disease: SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C1833222
Disease: Autoamputation
Autoamputation 		phenotype Finding 2 0.100 None 0
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 18 0.750 None 1.000 43 18 2001 2018
CUI: C1864975
Disease: Osteomyelitis leading to amputation due to slow healing fractures
Osteomyelitis leading to amputation due to slow healing fractures 		phenotype Infections; Musculoskeletal Diseases Finding 3 1 0.100 None 0 1
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.100 None 0
CUI: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C0393555
Disease: Pure hereditary spastic paraplegia
Pure hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		phenotype Finding 9 0.100 None 0
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 101 0.020 None 1.000 2 2006 2010
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests 		phenotype Diagnostic Procedure 12 24 0.100 None 1.000 1 1 2010 2010
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 15 22 0.010 None 1.000 1 1995 1995
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 10 0.030 None 0.333 3 1995 2004
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 2 0.340 None 1.000 4 2012 2019
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 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: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2018 2018
CUI: C0221163
Disease: Motor Disorders
Motor Disorders 		group Mental Disorders Disease or Syndrome 25 2 0.010 None 1.000 1 2013 2013
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.100 None 1.000 17 1 2002 2014
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 14 0.310 None 1.000 1 2011 2011
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0