WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
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.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 28 0.800 strong 1.000 35 28 2012 2020
Neurodegeneration with brain iron accumulation (NBIA)
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.600 strong 1.000 15 2012 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 10 3 2010 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.160 None 1.000 6 2 2015 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.330 None 1.000 4 2017 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.030 None 1.000 3 2016 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.020 None 1.000 2 2016 2019
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.020 None 1.000 2 2014 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.320 None 1.000 2 2016 2017
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.120 None 1.000 2 2016 2019
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 2013 2013
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2017 2017
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2018 2018
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.110 None 1.000 1 2017 2017
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2015 2015
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2015 2015
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2015 2015
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2018 2018
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration
disease Mental or Behavioral Dysfunction 39 3 0.010 None 1.000 1 2014 2014
CUI: C1135196
Disease: Heart Failure, Diastolic
Heart Failure, Diastolic
disease Cardiovascular Diseases Disease or Syndrome 55 9 0.300 None 1.000 1 2018 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2017 2017
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease Nervous System Diseases Disease or Syndrome 75 9 0.010 None 1.000 1 1 2015 2015
X-linked cerebral, cerebellar, coloboma syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 2 0.100 None 1.000 1 2 2012 2012
CUI: C3662068
Disease: Static encephalopathy
Static encephalopathy
disease Nervous System Diseases Disease or Syndrome 3 0.010 None < 0.001 1 2015 2015