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: 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: 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
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: 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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.060 None 1.000 6 2004 2008
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.060 None 1.000 6 2004 2008
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: 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
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.030 None 1.000 3 2012 2017
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 58 2 0.030 None 1.000 3 1998 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 2012 2017
CUI: C0006840
Disease: Candidiasis
Candidiasis 		disease Infections Disease or Syndrome 95 8 0.020 None 1.000 2 2008 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2018 2019
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.020 None 1.000 2 2014 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2015 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.020 None 1.000 2 1996 2018
CUI: C0266999
Disease: Vesicular Stomatitis
Vesicular Stomatitis 		disease Infections; Stomatognathic Diseases; Animal Diseases Disease or Syndrome 112 0.020 None 1.000 2 2007 2012
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.020 None 1.000 2 2014 2020
CUI: C0700345
Disease: Candidiasis, Vulvovaginal
Candidiasis, Vulvovaginal 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 57 1 0.020 None 1.000 2 2003 2007
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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2018 2018
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2017 2017