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: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2010 2010
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.010 None 1.000 1 2003 2003
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 14 0.010 None 1.000 1 1985 1985
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 1 2007 2007
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 330 71 0.010 None 1.000 1 2003 2003
CUI: C0242723
Disease: Parasitemia
Parasitemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 140 3 0.010 None 1.000 1 1986 1986
CUI: C1658953
Disease: tumor vasculature
tumor vasculature 		phenotype Neoplastic Process 200 0.010 None 1.000 1 2013 2013
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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2005 2005
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: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2010 2010
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
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.010 None 1.000 1 2014 2014
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma 		disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 2002 2002
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2010 2010
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2002 2002
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 76 15 0.010 None 1.000 1 2019 2019
CUI: C0036916
Disease: Sexually Transmitted Diseases
Sexually Transmitted Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 75 3 0.010 None 1.000 1 2018 2018
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: C0041234
Disease: Chagas Disease
Chagas Disease 		disease Infections Disease or Syndrome 202 10 0.010 None 1.000 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2019 2019
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 190 10 0.010 None 1.000 1 2019 2019
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.010 None 1.000 1 2017 2017
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