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: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C4025883
Disease: Abnormality of lower lip
Abnormality of lower lip 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 19 0.610 strong 1.000 3 19 2007 2017
CUI: C0521732
Disease: Lower eyelid entropion
Lower eyelid entropion 		phenotype Eye Diseases Acquired Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0152226
Disease: Lagophthalmos
Lagophthalmos 		disease Eye Diseases Disease or Syndrome 3 0.030 None 1.000 3 2018 2019
CUI: C0155188
Disease: Senile entropion
Senile entropion 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0234664
Disease: Lid lag
Lid lag 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2018 2018
CUI: C1839749
Disease: Paroxysmal bursts of laughter
Paroxysmal bursts of laughter 		phenotype Finding 4 0.100 None 0
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.100 None 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 10 0.010 None 1.000 1 2014 2014
CUI: C0751340
Disease: Myasthenia Gravis, Ocular
Myasthenia Gravis, Ocular 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		disease Disease or Syndrome 18 0.010 None 1.000 1 2012 2012
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0
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
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: C0020505
Disease: Hyperphagia
Hyperphagia 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype Finding 62 6 0.100 None 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.010 None 1.000 1 2019 2019
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.010 None 1.000 1 2018 2018
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0