PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
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: C1849242
Disease: Abnormality of B cell physiology
Abnormality of B cell physiology 		phenotype Finding 1 0.100 None 0
CUI: C2825875
Disease: Interferon Alpha Measurement
Interferon Alpha Measurement 		phenotype Laboratory Procedure 3 4 0.100 None 1.000 1 1 2015 2015
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 10 0.960 None 1.000 17 10 1979 2018
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 8 0.010 None 1.000 1 2019 2019
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		phenotype Finding 4 0.100 None 0
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 1983 1983
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 7 0.010 None 1.000 1 2014 2014
CUI: C0238051
Disease: Cerebral Angiitis
Cerebral Angiitis 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 1 0.100 None 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype Infections Finding 10 0.100 None 0
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2014 2014
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 8 0.100 None 0
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency 		disease Immune System Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2006 2006
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2014 2014
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		phenotype Cell or Molecular Dysfunction 18 0.100 None 0
CUI: C0278791
Disease: Chronic lymphocytic leukaemia refractory
Chronic lymphocytic leukaemia refractory 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 20 0.010 None 1.000 1 2010 2010
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 15 0.010 None 1.000 1 2014 2014
CUI: C1334647
Disease: Maxillary Sinus Squamous Cell Carcinoma
Maxillary Sinus Squamous Cell Carcinoma 		disease Neoplastic Process 24 0.010 None 1.000 1 2011 2011
CUI: C1744558
Disease: T-lymphocyte deficiency
T-lymphocyte deficiency 		disease Disease or Syndrome 25 0.020 None 1.000 2 1980 1981
CUI: C0339505
Disease: Venous retinal branch occlusion
Venous retinal branch occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 25 7 0.010 None 1.000 1 2019 2019
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 28 32 0.010 None 1.000 1 2019 2019
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.010 None 1.000 1 2012 2012
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 37 6 0.100 None 0
CUI: C0154841
Disease: Central retinal vein occlusion
Central retinal vein occlusion 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 38 7 0.010 None 1.000 1 2019 2019