ERF, ETS2 repressor factor, 2077

N. diseases: 131; 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: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4
disease Disease or Syndrome 1 7 0.610 None 1.000 3 7 2013 2019
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
disease Disease or Syndrome 1 2 0.710 strong 1.000 3 2 2015 2019
Arnold-Chiari Malformation, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C0750932
Disease: Arnold-Chiari Malformation, Type IV
Arnold-Chiari Malformation, Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C4707866
Disease: Familial lambdoid synostosis
Familial lambdoid synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis
disease Congenital Abnormality 2 0.320 strong 1.000 3 2013 2017
CUI: C4021160
Disease: Posterior plagiocephaly
Posterior plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 2 1 0.100 None 0
CUI: C0233417
Disease: Poor concentration
Poor concentration
phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0555206
Disease: Chiari malformation type II
Chiari malformation type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 7 0.300 None 1.000 1 2013 2013
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull
phenotype Finding 8 0.300 None 1.000 1 2013 2013
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 10 0.100 None 0
CUI: C4021959
Disease: Round ear
Round ear
disease Anatomical Abnormality 10 4 0.100 None 0
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.300 None 1.000 1 2013 2013
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 1 2013 2013
Auditory Processing Disorder, Central
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2013 2013
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 12 1 0.100 None 0
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype Laboratory or Test Result 13 0.100 None 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal
phenotype Finding 14 0.100 None 0
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 15 52 0.300 None 1.000 1 2013 2013
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.100 None 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 1.000 1 2013 2013
CUI: C4317152
Disease: Dimple chin
Dimple chin
phenotype Anatomical Abnormality 16 2 0.100 None 0
CUI: C1136135
Disease: Water Stress
Water Stress
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
disease Anatomical Abnormality 17 0.100 None 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.400 None 1.000 2 7 2013 2017