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: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		disease Disease or Syndrome 1 12 0.700 None 1.000 3 12 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: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		disease Congenital Abnormality 2 2 0.100 None 0 1
CUI: C4023172
Disease: Broad chin
Broad chin 		phenotype Finding 2 0.100 None 0
CUI: C0031903
Disease: Pigeon Breeder's Lung
Pigeon Breeder's Lung 		disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 5 3 0.100 None 1.000 1 1 2017 2017
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 23 0.100 None 0 1
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		phenotype Finding 10 7 0.100 None 1.000 1 1 2017 2017
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		phenotype Finding 11 1 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		disease Skin and Connective Tissue Diseases Anatomical Abnormality 27 7 0.100 None 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.100 None 0 1
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype Finding 29 2 0.100 None 0 1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 0.100 None 1.000 1 1 2017 2017
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype Finding 30 2 0.100 None 1.000 1 1 2017 2017
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.100 None 0 1
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 3 0.100 None 1.000 1 1 2017 2017
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 0 1
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.100 None 1.000 2 1 2017 2017
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 1.000 1 1 2017 2017
CUI: C0234860
Disease: Weak cry
Weak cry 		phenotype Finding 42 4 0.100 None 0 1
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 42 5 0.100 None 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 43 9 0.100 None 0 1