DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
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: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		disease Disease or Syndrome 1 1 0.700 strong 1.000 7 1 2010 2019
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		disease Disease or Syndrome 1 9 0.700 None 1.000 6 9 2001 2017
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		phenotype Finding 1 2 0.100 None 1.000 1 1 2017 2017
CUI: C4025323
Disease: Postauricular skin tag
Postauricular skin tag 		phenotype Finding 2 1 0.100 None 1.000 1 1 2017 2017
CUI: C1840006
Disease: Mild intrauterine growth retardation
Mild intrauterine growth retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 3 1 0.100 None 1.000 1 1 2017 2017
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		phenotype Finding 4 1 0.100 None 1.000 2 1 2017 2017
CUI: C4021631
Disease: Abnormal tracheobronchial morphology
Abnormal tracheobronchial morphology 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0031873
Disease: Pica Disease
Pica Disease 		disease Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction 5 3 0.100 None 1.000 2 1 2017 2017
CUI: C1844007
Disease: Corticospinal tract hypoplasia
Corticospinal tract hypoplasia 		phenotype Finding 5 0.100 None 0
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		disease Mental Disorders Mental or Behavioral Dysfunction 6 4 0.100 None 1.000 2 1 2017 2017
CUI: C2748652
Disease: Large face
Large face 		phenotype Finding 11 0.100 None 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		phenotype Finding 11 1 0.100 None 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		phenotype Finding 14 2 0.100 None 0
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 1 0.100 None 1.000 1 1 2017 2017
CUI: C1524032
Disease: Depression and Suicide
Depression and Suicide 		disease Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2004 2004
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		phenotype Finding 19 0.100 None 0
CUI: C0034880
Disease: Hyperacusis
Hyperacusis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 9 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 1.000 1 1 2017 2017
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.100 None 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease Anatomical Abnormality 40 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 1.000 2 1 2017 2017
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 0.300 None 1.000 1 2017 2017
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 1.000 1 1 2017 2017