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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.470 None 0.875 8 1 2010 2020
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: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.020 None 1.000 2 2014 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.020 None 1.000 2 2017 2020
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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2018 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 10 1 2010 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 10 2 2010 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 10 1 2010 2017
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 5 3 2014 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 1.000 5 2 2014 2017
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 1.000 4 1 2014 2017
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 1.000 2 1 2017 2017
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 1.000 2 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: 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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 1.000 2 4 2017 2017
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.100 None 1.000 2 2 2017 2017
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: 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: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 1.000 2 1 2017 2017
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 1.000 2 2 2017 2017
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 1.000 2 2 2017 2017