MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
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: C4048158
Disease: Convulsions
Convulsions
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 83 3 0.310 None 1.000 1 2007 2010
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 110 35 0.310 None 1.000 1 2010 2016
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.310 None 1.000 1 2009 2012
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 166 7 0.310 None 1.000 1 2010 2011
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 91 7 0.210 None 1.000 1 2008 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 377 64 0.110 None 1.000 1 2016 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 104 21 0.110 None 1.000 1 2015 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 140 6 0.110 None 1.000 1 1993 2016
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 407 90 0.110 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 863 307 0.110 None 1.000 1 2018 2018
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 202 31 0.110 None 1.000 1 2012 2012
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 31 3 0.110 None 1.000 1 2016 2016
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 149 8 0.110 None 1.000 1 2016 2016
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 154 34 0.110 None 1.000 1 2012 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 173 8 0.110 None 1.000 1 1993 2016
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 711 165 0.110 None 1.000 1 2018 2018
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 406 101 0.010 None 1.000 1 2019 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 167 7 0.010 None 1.000 1 2015 2015
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
group Endocrine System Diseases Disease or Syndrome 209 25 0.010 None 1.000 1 2015 2015
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 199 24 0.010 None 1.000 1 2014 2014
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 258 78 0.010 None < 0.001 1 1 2014 2014
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 528 52 0.010 None 1.000 1 2019 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 510 137 0.010 None 1.000 1 2016 2016
CUI: C0848771
Disease: neurological disability
neurological disability
phenotype Sign or Symptom 18 6 0.010 None 1.000 1 2017 2017
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 246 8 0.010 None 1.000 1 2007 2007