QDPR, quinoid dihydropteridine reductase, 5860

N. diseases: 45; N. variants: 16
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: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 16 0.760 None 1.000 18 16 1987 2019
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.490 None 1.000 10 1979 2015
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.350 None 1.000 6 1975 2015
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.350 None 1.000 6 1975 2015
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.350 None 1.000 6 1993 2015
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.030 None 1.000 3 2009 2019
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		group Nervous System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2008 2008
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 70 8 0.010 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2009 2009
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.010 None 1.000 1 2004 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None 1.000 1 2004 2004
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2008 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 1 2016 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.200 None 1.000 1 2007 2007
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None 1.000 1 2004 2004
CUI: C0152455
Disease: Keratomalacia
Keratomalacia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2011 2011
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.010 None 1.000 1 1991 1991
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None 1.000 1 2004 2004
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		disease Infections Disease or Syndrome 48 2 0.100 None 0
CUI: C0037036
Disease: Sialorrhea
Sialorrhea 		disease Stomatognathic Diseases Disease or Syndrome 32 1 0.100 None 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.100 None 0
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1989 1989