NFIA, nuclear factor I A, 4774

N. diseases: 95; N. variants: 29
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 12 1 1999 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests
phenotype Diagnostic Procedure 17 27 0.100 None 1.000 1 1 2010 2010
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2013 2013
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2018 2018
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 41 69 0.100 None 1.000 1 2 2016 2016
CUI: C0441683
Disease: Hormone measurement
Hormone measurement
group Laboratory Procedure 51 134 0.100 None 1.000 1 1 2013 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2014 2014
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C1623258
Disease: Electrocardiography
Electrocardiography
phenotype Diagnostic Procedure 8 16 0.100 None 1.000 1 1 2018 2018
CHROMOSOME 1p32-p31 DELETION SYNDROME
disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C3273254
Disease: Arterionephrosclerosis
Arterionephrosclerosis
disease Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
disease Congenital Abnormality 1 4 0.600 limited 1.000 1 4 2007 2007
CUI: C4707828
Disease: 1p31p32 microdeletion syndrome
1p31p32 microdeletion syndrome
disease Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1859680
Disease: Broad face
Broad face
phenotype Finding 14 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype Finding 64 116 0.100 None 0 1