TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
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: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.650 None 1.000 6 2012 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.410 None 1.000 2 1 2017 2018
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
disease Disease or Syndrome 1 7 0.400 None 1.000 8 7 2003 2018
CUI: C3279875
Disease: CORTICAL MALFORMATIONS, OCCIPITAL
CORTICAL MALFORMATIONS, OCCIPITAL
disease Disease or Syndrome 2 4 0.300 None 1.000 1 2018 2018
CUI: C2931816
Disease: Chromosome 2, monosomy 2q24
Chromosome 2, monosomy 2q24
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 1 0.300 None 1.000 1 2014 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.280 None 1.000 8 2016 2019
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 0.170 None 1.000 7 2013 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 1 2018 2019
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 0 1
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0 1
Inflexible adherence to routines or rituals
phenotype Behavior and Behavior Mechanisms Finding 5 1 0.100 None 0 1
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0 1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0 12
CUI: C1855538
Disease: Small face
Small face
phenotype Finding 10 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus
disease Congenital Abnormality 7 1 0.100 None 0 1
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
disease Anatomical Abnormality 27 0.100 None 0
Bullet-shaped distal phalanx of the hallux
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure
disease Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1858091
Disease: Long fingers
Long fingers
phenotype Finding 32 6 0.100 None 0