NUP62, nucleoporin 62, 23636

N. diseases: 273; N. variants: 6
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: C4024895
Disease: Atrophy/Degeneration involving the caudate nucleus
Atrophy/Degeneration involving the caudate nucleus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		disease Disease or Syndrome 6 0.100 None 0
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 7 1 0.100 None 0
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		disease Nervous System Diseases Disease or Syndrome 10 1 0.710 None 1.000 4 1 2002 2016
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		phenotype Finding 10 0.100 None 0
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		phenotype Finding 11 0.100 None 0
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		disease Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0206631
Disease: Lipomatous neoplasm
Lipomatous neoplasm 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C0333440
Disease: Hyaline body
Hyaline body 		disease Anatomical Abnormality 14 0.010 None 1.000 1 2016 2016
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		phenotype Finding 14 2 0.100 None 0
CUI: C0521858
Disease: Decreased drug resistance
Decreased drug resistance 		phenotype Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 18 0.010 None 1.000 1 2014 2014
CUI: C4042861
Disease: Obesity, Metabolically Benign
Obesity, Metabolically Benign 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 19 8 0.010 None 1.000 1 2017 2017
CUI: C0039496
Disease: Temporomandibular Joint Dysfunction Syndrome
Temporomandibular Joint Dysfunction Syndrome 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 2014 2014
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 24 1 0.100 None 0
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		group Musculoskeletal Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2008 2008
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 25 10 0.010 None 1.000 1 2010 2010
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C0272401
Disease: Virchow's node (disorder)
Virchow's node (disorder) 		disease Sign or Symptom 30 1 0.010 None 1.000 1 2018 2018
CUI: C0221292
Disease: Basophilic leukemia
Basophilic leukemia 		disease Neoplasms Neoplastic Process 32 3 0.010 None 1.000 1 2019 2019
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.010 None 1.000 1 2019 2019