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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 2017 2017
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 2 1 2012 2019
CUI: C1744558
Disease: T-lymphocyte deficiency
T-lymphocyte deficiency 		disease Disease or Syndrome 25 0.020 None 1.000 2 1980 1981
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2017 2017
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		disease Mental or Behavioral Dysfunction 39 3 0.010 None 1.000 1 2007 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2012 2012
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: C1658953
Disease: tumor vasculature
tumor vasculature 		phenotype Neoplastic Process 200 0.010 None 1.000 1 2013 2013
CUI: C1962942
Disease: TRICHOMONAS VAGINALIS (finding)
TRICHOMONAS VAGINALIS (finding) 		disease Disease or Syndrome 56 0.010 None 1.000 1 2018 2018
CUI: C2825875
Disease: Interferon Alpha Measurement
Interferon Alpha Measurement 		phenotype Laboratory Procedure 3 4 0.100 None 1.000 1 1 2015 2015
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3 		disease Disease or Syndrome 209 20 0.010 None 1.000 1 2002 2002
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.010 None 1.000 1 2014 2014
CUI: C1849242
Disease: Abnormality of B cell physiology
Abnormality of B cell physiology 		phenotype Finding 1 0.100 None 0
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		phenotype Cell or Molecular Dysfunction 18 0.100 None 0
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		phenotype Finding 4 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2011 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2011 2011
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2019 2019
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.010 None 1.000 1 2017 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2018 2018
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: 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: 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