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: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 128 15 0.010 None 1.000 1 2001 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2080 167 0.010 None 1.000 1 2001 2001
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3882 601 0.010 None 1.000 1 2001 2001
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2325 197 0.010 None 1.000 1 2001 2001
CUI: C0206704
Disease: Carcinoma, Large Cell
Carcinoma, Large Cell
disease Neoplasms Neoplastic Process 86 6 0.010 None 1.000 1 2001 2001
CUI: C1968551
Disease: Mental Retardation, X-Linked 79
Mental Retardation, X-Linked 79
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2002 2002
CUI: C0018418
Disease: Gynecomastia
Gynecomastia
disease Skin and Connective Tissue Diseases Disease or Syndrome 36 8 0.010 None 1.000 1 2002 2002
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 1 0.010 None 1.000 1 2002 2002
CUI: C4707565
Disease: Bilateral polymicrogyria
Bilateral polymicrogyria
disease Congenital Abnormality 3 0.010 None 1.000 1 2002 2002
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 0.320 None 1.000 2 2001 2003
CUI: C0234366
Disease: Ataxic
Ataxic
phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2 2003 2003
CUI: C0221033
Disease: Trisomy X syndrome
Trisomy X syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2003 2003
CUI: C0206696
Disease: Carcinoma, Signet Ring Cell
Carcinoma, Signet Ring Cell
disease Neoplasms Neoplastic Process 70 6 0.010 None 1.000 1 2003 2003
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma
disease Neoplasms Neoplastic Process 155 10 0.010 None 1.000 1 2003 2003
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 43 1 0.010 None 1.000 1 2004 2004
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 15 0.010 None 1.000 1 2004 2004
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2004 2004
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.020 None 1.000 2 2001 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 193 5 0.020 None 1.000 2 2001 2005
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 148 18 0.020 None 1.000 2 2001 2005
CUI: C0281902
Disease: maladjustment
maladjustment
phenotype Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 2005 2005
CUI: C0015230
Disease: Exanthema
Exanthema
phenotype Skin and Connective Tissue Diseases Sign or Symptom 174 11 0.010 None 1.000 1 2005 2005
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 17 1 0.010 None 1.000 1 2005 2005
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.020 None 1.000 2 2002 2006
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 165 83 0.010 None 1.000 1 2006 2006