TBR1, T-box brain transcription factor 1, 10716

N. diseases: 22; N. variants: 17
Source: CLINVAR ×
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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 4 4 0.410 None 1.000 0 1 2017 2018
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		disease Disease or Syndrome 1 3 0.400 None 1.000 0 3 2003 2018
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 74 93 0.100 None 0 1
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype Finding 23 25 0.100 None 0 1
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 46 72 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 1
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype Finding 7 8 0.100 None 0 1
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 12 21 0.100 None 0 10
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure 		disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 12 0.100 None 0 1
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
Inflexible adherence to routines or rituals 		phenotype Behavior and Behavior Mechanisms Finding 1 1 0.100 None 0 1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 33 50 0.100 None 0 6
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.100 None 0 1
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype Nervous System Diseases Finding 23 27 0.100 None 0 1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 19 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 0.100 None 0 1
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 5 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 0 1
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 17 23 0.100 None 0 1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 44 76 0.100 None 0 12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1