NFIX, nuclear factor I X, 4784

N. diseases: 23; N. variants: 25
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.
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 1 11 0.790 None 1.000 4 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 1 17 0.740 None 1.000 3 17 2010 2018
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 12 13 0.100 None 0 1
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype Finding 4 4 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 20 23 0.100 None 0 1
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 7 6 0.100 None 0 1
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 3 3 0.100 None 0 1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 0 1
CUI: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 0 1
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 8 8 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 19 21 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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 33 0.100 None 0 1
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 16 18 0.100 None 0 2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 43 49 0.100 None 0 1
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 9 0.100 None 0 1
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 9 13 0.100 None 0 2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C1833145
Disease: Distal ulnar hypoplasia
Distal ulnar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 1 1 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 23 25 0.100 None 0 2
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease Eye Diseases Disease or Syndrome 7 10 0.100 None 0 1