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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 1.000 2 1 2017 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.020 None 1.000 2 2014 2014
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
disease Anatomical Abnormality 40 0.100 None 0
Abnormal tracheobronchial morphology
disease Anatomical Abnormality 4 0.100 None 0
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 1.000 1 1 2017 2017
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
phenotype Finding 19 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 1.000 2 2 2017 2017
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 1.000 2 2 2017 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2001 2001
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 1.000 2 2 2017 2017
CUI: C0085631
Disease: Agitation
Agitation
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
phenotype Finding 87 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 108 8 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.130 None 1.000 4 1 2018 2020
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 1.000 1 3 2017 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2015 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0