CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
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: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
phenotype Finding 5 0.100 None 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
phenotype Finding 6 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
phenotype Finding 3 0.100 None 0
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries Disease or Syndrome 2 3 0.100 None 0 3
CUI: C0233844
Disease: Clumsiness
Clumsiness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration
phenotype Mental Disorders Finding 14 1 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
Increased neuronal autofluorescent lipopigment
phenotype Finding 8 0.100 None 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.100 None 0
Abnormal nervous system electrophysiology
phenotype Pathologic Function 3 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
Adult Neuronal Ceroid Lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.200 None 1.000 1 2004 2004
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2015 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 1.000 1 1 2010 2010
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms
phenotype Organism Function 45 84 0.100 None 1.000 1 1 2016 2016
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease
disease Disease or Syndrome 2 0.010 None 1.000 1 1996 1996
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 23 0.010 None 1.000 1 2018 2018
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2001 2001
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 42 0.010 None 1.000 1 2010 2010
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
disease Eye Diseases Disease or Syndrome 136 16 0.010 None 1.000 1 2017 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 2001 2001