WDR45, WD repeat domain 45, 11152

N. diseases: 36; N. variants: 1
Source: BEFREE ×
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: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 0.800 strong 1.000 27 2012 2020
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.600 strong 1.000 14 2012 2020
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 160 38 0.420 strong 1.000 2 2012 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1124 250 0.330 None 1.000 3 2017 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 113 23 0.320 None 1.000 2 2016 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.160 None 1.000 6 1 2015 2020
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1052 139 0.140 None 1.000 4 1 2012 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1219 153 0.130 None 1.000 3 2013 2015
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 711 165 0.120 None 1.000 2 2016 2019
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 79 17 0.110 None 1.000 1 2017 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 288 90 0.110 None 1.000 1 2016 2016
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 155 23 0.110 None 1.000 1 2017 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 545 37 0.040 None 1.000 4 2016 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 334 64 0.040 None 1.000 4 2015 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.030 None 1.000 3 2015 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 133 33 0.030 None 1.000 3 2016 2016
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 228 54 0.020 None 1.000 2 2014 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 664 159 0.020 None 1.000 2 2016 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 158 37 0.020 None 1.000 2 2013 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1018 256 0.010 None 1.000 1 2017 2017
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		disease Mental or Behavioral Dysfunction 39 3 0.010 None 1.000 1 2014 2014
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 1 2015 2015
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 33 6 0.010 None 1.000 1 2015 2015
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2018 2018
CUI: C3662068
Disease: Static encephalopathy
Static encephalopathy 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None < 0.001 1 2015 2015