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: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype Finding 21 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 0.100 None 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		phenotype Finding 9 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: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype Finding 49 11 0.100 None 0 1
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: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.100 None 0
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None 1.000 1 1993 1993
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None < 0.001 1 1996 1996
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 1997 1997
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2002 2002
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: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.010 None 1.000 1 2005 2005
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2005 2005
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.010 None 1.000 1 2005 2005