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.
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
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: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
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
CUI: C4023177
Disease: Increased cerebral lipofuscin
Increased cerebral lipofuscin 		phenotype Finding 1 0.100 None 0
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
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
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
CUI: C0751273
Disease: Infantile Globoid Cell Leukodystrophy
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
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
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: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
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: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
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
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
Metachromatic leukodystrophy variant 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2009 2009
CUI: C0011103
Disease: Decerebrate State
Decerebrate State 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 3 0.100 None 0
CUI: C4025350
Disease: Abnormality of glycosphingolipid metabolism
Abnormality of glycosphingolipid metabolism 		phenotype Finding 3 0.100 None 0
CUI: C4022658
Disease: Punctate periventricular T2 hyperintense foci
Punctate periventricular T2 hyperintense foci 		phenotype Finding 4 1 0.100 None 0
CUI: C0917808
Disease: Vegetative State
Vegetative State 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 5 0.100 None 0
CUI: C1859178
Disease: Progressive peripheral neuropathy
Progressive peripheral neuropathy 		phenotype Finding 5 0.100 None 0
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 10 0.010 None 1.000 1 1997 1997
CUI: C0349672
Disease: Endometrioid carcinoma of prostate
Endometrioid carcinoma of prostate 		disease Neoplastic Process 7 0.010 None 1.000 1 2016 2016
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		phenotype Finding 7 0.100 None 0
CUI: C0006846
Disease: Cutaneous Candidiasis
Cutaneous Candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2000 2000
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2019 2019
CUI: C0862636
Disease: Adenocarcinoma of the prostate metastatic
Adenocarcinoma of the prostate metastatic 		disease Neoplastic Process 11 0.010 None 1.000 1 2017 2017
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		phenotype Finding 11 2 0.100 None 0
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		phenotype Finding 12 2 0.100 None 0
CUI: C1868528
Disease: Orthostatic hypotension due to autonomic dysfunction
Orthostatic hypotension due to autonomic dysfunction 		phenotype Nervous System Diseases; Cardiovascular Diseases Finding 16 0.100 None 0
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 0.050 None 1.000 5 1992 2017