NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
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: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.050 None 1.000 5 1997 2017
CUI: C4331824
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Neurohypophyseal Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 2001 2005
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.060 None 1.000 6 1999 2019
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 1 0.030 None 1.000 3 2001 2019
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		disease Congenital Abnormality 25 7 0.010 None 1.000 1 1993 1993
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 2012 2012
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.010 None 1.000 1 2012 2012
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.010 None 1.000 1 2019 2019
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		disease Neoplastic Process 50 2 0.010 None 1.000 1 2013 2013
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.010 None 1.000 1 2008 2008
CUI: C0278694
Disease: Disseminated neuroblastoma
Disseminated neuroblastoma 		disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2015 2015
CUI: C0086189
Disease: Drug Withdrawal Symptoms
Drug Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 58 0.300 None 1.000 1 2009 2009
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 0.030 None 0.667 3 1998 2012
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 80 5 0.300 None 1.000 1 2009 2009
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.020 None 1.000 2 1997 2008
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases 		group Digestive System Diseases Disease or Syndrome 100 11 0.010 None 1.000 1 2013 2013
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 105 21 0.020 None 1.000 2 2006 2006
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 126 10 0.300 None 1.000 1 2009 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.050 None 1.000 5 2006 2019
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2008 2008
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.010 None 1.000 1 1999 1999
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 2010 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 248 31 0.010 None 1.000 1 2015 2015
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.010 None 1.000 1 2008 2008
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.020 None 1.000 2 2011 2012