MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; 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.
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.090 None 1.000 9 2017 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.070 None 1.000 7 1 2011 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.070 None 1.000 7 2013 2018
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.060 None 1.000 6 2017 2020
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 2165 159 0.160 None 1.000 6 2011 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.040 None 1.000 4 2012 2019
CUI: C0152226
Disease: Lagophthalmos
Lagophthalmos 		disease Eye Diseases Disease or Syndrome 3 0.030 None 1.000 3 2018 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.130 None 1.000 3 2010 2012
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.020 None 1.000 2 2011 2013
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.020 None 1.000 2 2016 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.020 None 1.000 2 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 2011 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.020 None 1.000 2 2014 2019
CUI: C0521732
Disease: Lower eyelid entropion
Lower eyelid entropion 		phenotype Eye Diseases Acquired Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2015 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2019 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2014 2014
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.110 None 1.000 1 2015 2015
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.110 None 1.000 1 2017 2017
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.110 None 1.000 1 2015 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2017 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2010 2010
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2019 2019
CUI: C0155188
Disease: Senile entropion
Senile entropion 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 46 3 0.010 None 1.000 1 2013 2013