FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
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: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome
disease Disease or Syndrome 1 0.300 None 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome
disease Disease or Syndrome 1 0.300 None 0
Aplasia/Hypoplasia involving the central nervous system
phenotype Finding 2 1 0.100 None 0 1
Tongue thrusting when swallowing, abnormal persistence beyond early childhood
phenotype Stomatognathic Diseases Pathologic Function 3 0.100 None 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage
phenotype Finding 4 1 0.100 None 0 1
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease
phenotype Finding 4 1 0.100 None 0 1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 5 46 0.790 None 1.000 25 46 2008 2019
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting
phenotype Mental Disorders Finding 5 2 0.100 None 0
Partial or complete agenesis of corpus callosum
disease Congenital Abnormality 5 6 0.100 None 0 1
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus
disease Congenital Abnormality 7 1 0.010 None 1.000 1 2018 2018
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus
disease Anatomical Abnormality 7 0.100 None 0
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases Congenital Abnormality 8 1 0.100 None 0 1
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 22 0.300 None 1.000 1 2008 2008
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 58 0.010 None 1.000 1 2014 2014
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination
disease Anatomical Abnormality 9 4 0.100 None 0 1
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 47 0.340 None 1.000 6 2008 2019
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
Subacute Bacterial Endocarditis
disease Infections; Cardiovascular Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2019 2019
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 0 1
CUI: C0037939
Disease: Spinal Neoplasms
Spinal Neoplasms
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 14 0.010 None 1.000 1 2016 2016
CUI: C3887662
Disease: Intraspinal Neoplasm
Intraspinal Neoplasm
disease Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process 14 0.010 None 1.000 1 2016 2016
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 108 0.010 None 1.000 1 2008 2008
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
disease Anatomical Abnormality 17 0.100 None 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
phenotype Finding 18 11 0.100 None 0 1
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0 1
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
disease Anatomical Abnormality 21 4 0.100 None 0 1