NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
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: C1865241
Disease: Large sternal ossification centers
Large sternal ossification centers 		phenotype Finding 1 0.100 None 0
CUI: C1865254
Disease: Distal widening of metacarpals
Distal widening of metacarpals 		phenotype Finding 1 0.100 None 0
CUI: C4024187
Disease: Bullet-shaped middle phalanges of the hand
Bullet-shaped middle phalanges of the hand 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 11 0.790 None 1.000 14 11 2010 2019
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 17 0.740 None 1.000 6 17 2010 2018
CUI: C1833145
Disease: Distal ulnar hypoplasia
Distal ulnar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 2 1 0.100 None 0 1
CUI: C1841648
Disease: Short mandibular rami
Short mandibular rami 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 2 0.100 None 0
CUI: C0036310
Disease: Scheuermann's Disease
Scheuermann's Disease 		disease Musculoskeletal Diseases Disease or Syndrome 5 1 0.200 None 1.000 1 2007 2007
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla 		phenotype Finding 5 1 0.100 None 0 1
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		phenotype Finding 6 1 0.100 None 0
CUI: C3550430
Disease: Eclabion
Eclabion 		phenotype Finding 6 2 0.100 None 0
CUI: C0575497
Disease: Short sternum
Short sternum 		phenotype Finding 9 0.100 None 0
CUI: C3273254
Disease: Arterionephrosclerosis
Arterionephrosclerosis 		disease Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		phenotype Finding 12 0.100 None 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		phenotype Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype Finding 16 4 0.100 None 0 1
CUI: C0857836
Disease: JC virus infection
JC virus infection 		disease Infections Disease or Syndrome 18 0.010 None 1.000 1 1997 1997
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: C1865244
Disease: Shallow orbits
Shallow orbits 		phenotype Eye Diseases Finding 20 4 0.100 None 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 0 1
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 24 8 0.100 None 0 1