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: C3151036
Disease: CHROMOSOME 1p32-p31 DELETION SYNDROME
CHROMOSOME 1p32-p31 DELETION SYNDROME 		disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C4478940
Disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
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: C1623258
Disease: Electrocardiography
Electrocardiography 		phenotype Diagnostic Procedure 8 16 0.100 None 1.000 1 1 2018 2018
CUI: C3273254
Disease: Arterionephrosclerosis
Arterionephrosclerosis 		disease Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C1859680
Disease: Broad face
Broad face 		phenotype Finding 14 0.100 None 0
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		phenotype Diagnostic Procedure 17 27 0.100 None 1.000 1 1 2010 2010
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 18 2 0.010 None 1.000 1 2014 2014
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.010 None 1.000 1 2014 2014
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		phenotype Finding 41 69 0.100 None 1.000 1 2 2016 2016
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 41 1 0.100 None 0
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2013 2013
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2014 2014
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		group Laboratory Procedure 51 134 0.100 None 1.000 1 1 2013 2013
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 80 9 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.020 None 1.000 2 2007 2010
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.100 None 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2018 2018
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.010 None 1.000 1 2017 2017