PSAP, prosaposin, 5660

N. diseases: 189; 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.
Metachromatic Leukodystrophy due to Saposin B Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.710 strong 1.000 10 7 1990 2019
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.710 strong 1.000 8 3 1978 2016
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 6 0.700 strong 1.000 4 6 1991 2016
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.620 strong 1.000 6 1 2000 2020
Infantile Globoid Cell Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 2 0.310 None 1.000 2 2005 2020
Metachromatic Leukodystrophy, Infant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 10 0.310 None 1.000 2 2014 2019
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 27 158 0.300 None 1.000 17 2 1990 2019
Metachromatic Leukodystrophy, Adult-Type (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.300 None 1.000 1 2014 2014
Metachromatic leukodystrophy, juvenile type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 5 0.300 None 1.000 1 2014 2014
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 35 111 0.250 None 1.000 8 2001 2020
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 143 82 0.100 None 1.000 17 1 1990 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 4 1 2005 2016
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 1 1 2013 2013
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 1.000 1 1 2009 2009
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
phenotype Finding 45 6 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs
phenotype Finding 18 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.100 None 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C0542223
Disease: Loss of speech
Loss of speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 37 8 0.100 None 0
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 5 0.100 None 0
Abnormality of glycosphingolipid metabolism
phenotype Finding 3 0.100 None 0