KIAA0319, KIAA0319, 9856

N. diseases: 24; N. variants: 10
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: C0476254
Disease: Dyslexia
Dyslexia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 118 30 0.100 None 0.929 42 4 1999 2019
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 32 0.100 None 0.947 19 3 2005 2017
CUI: C0871215
Disease: Reading Disabilities
Reading Disabilities
disease Mental or Behavioral Dysfunction 28 3 0.100 None 1.000 11 2005 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.100 None 1.000 1 1 2012 2012
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.020 None 1.000 2 2008 2019
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 0.020 None 1.000 2 2008 2019
CUI: C2004345
Disease: phonological developmental disorder
phonological developmental disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2015 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2016 2016
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia
disease Disease or Syndrome 20 19 0.010 None 1.000 1 2019 2019
CUI: C4019167
Disease: Speech Sound Disorders
Speech Sound Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 11 0.010 None 1.000 1 2015 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.010 None 1.000 1 2015 2015
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.010 None 1.000 1 2014 2014
Rigor - Temperature-associated observation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 24 0.010 None 1.000 1 2019 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2014 2014
CUI: C0023015
Disease: Language Disorders
Language Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.010 None 1.000 1 2011 2011
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.010 None 1.000 1 2019 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2012 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2013 2013
CUI: C0037789
Disease: Specific reading disorder
Specific reading disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2017 2017
CUI: C0043121
Disease: Wernicke Encephalopathy
Wernicke Encephalopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 9 1 0.010 None 1.000 1 2013 2013
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.010 None 1.000 1 2014 2014
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 2020 2020