FOXP1, forkhead box P1, 27086

N. diseases: 21; N. variants: 26
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.
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
disease Disease or Syndrome 1 22 0.700 strong 1.000 2 22 2010 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.180 None 1.000 0 2 2010 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 62 0.120 None 1.000 0 1 2018 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 335 611 0.110 None 1.000 11 1 2003 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 11 1 2003 2017
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
disease Disease or Syndrome 17 19 0.100 None 0 1
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT
disease Disease or Syndrome 6 5 0.100 None 0 1
Partial or complete agenesis of corpus callosum
disease Congenital Abnormality 5 6 0.100 None 0 1
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma
disease Neoplasms Neoplastic Process 4 4 0.100 None 0 1
CUI: C1851897
Disease: Anterior creases of earlobe
Anterior creases of earlobe
phenotype Finding 2 2 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 26 29 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 3
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum
phenotype Finding 2 2 0.100 None 0 1
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 20 26 0.100 None 0 2
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 23 25 0.100 None 0 1
CUI: C1185616
Disease: Hair whorls
Hair whorls
phenotype Finding 4 5 0.100 None 0 1
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 56 64 0.100 None 0 1
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 61 85 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.100 None 0 1
Abnormality of skin adnexa morphology
phenotype Anatomical Abnormality 2 2 0.100 None 0 1