NFIA, nuclear factor I A, 4774

N. diseases: 67; N. variants: 14
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 5 2007 2015
CHROMOSOME 1p32-p31 DELETION SYNDROME
disease Disease or Syndrome 1 1 0.400 1 1 2015 2015
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
disease Congenital Abnormality 1 0.300 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 670 121 0.110 1.000 1 2014 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 316 19 0.110 1.000 1 2007 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.100 1 8 2013 2013
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement
phenotype Laboratory Procedure 15 28 0.100 1 1 2013 2013
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 36 68 0.100 1 2 2017 2017
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 14 35 0.100 1 1 2013 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 311 176 0.100 1 1 2010 2010
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 19 0.100 0
CUI: C1839323
Disease: Small chin
Small chin
phenotype Finding 20 0.100 0
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 181 3 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0426414
Disease: Small nose
Small nose
phenotype Finding 175 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0
CUI: C4280664
Disease: Big calvaria
Big calvaria
phenotype Finding 212 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0