EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
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: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 1.000 1 1 2017 2017
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
phenotype Disease or Syndrome 30 25 0.100 None 1.000 1 1 2017 2017
Aplasia/Hypoplasia of the cerebellar vermis
phenotype Finding 30 2 0.100 None 1.000 1 1 2017 2017
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature
phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies
phenotype Finding 44 15 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds
disease Congenital Abnormality 2 2 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0 1
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 1
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0 1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0 1
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0 1
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 122 14 0.100 None 0 1
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0 1
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow
phenotype Finding 11 1 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0 1