PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2018 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2018 2018
CUI: C0011880
Disease: Diabetic Ketoacidosis
Diabetic Ketoacidosis 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 63 3 0.010 None 1.000 1 2018 2018
CUI: C0240129
Disease: Knee stiff
Knee stiff 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2018 2018
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 398 29 0.010 None 1.000 1 2018 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.040 None 0.750 4 2017 2018
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None < 0.001 1 2017 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2017 2017
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.110 None 1.000 1 2017 2017
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 2017 2017
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Congenital Abnormality 21 19 0.020 None 1.000 2 2012 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2012 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None 1.000 1 2012 2012
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.020 None 1.000 2 2011 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2011 2011
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2011 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2011 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2011 2011
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders 		group Nervous System Diseases Disease or Syndrome 27 1 0.010 None 1.000 1 2011 2011
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.010 None 1.000 1 2011 2011
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.010 None 1.000 1 2011 2011
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.010 None 1.000 1 2010 2010
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2010 2010