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: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype Finding 46 7 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype Finding 55 3 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype Finding 25 2 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0 1
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype Finding 16 4 0.100 None 0 1
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0 1
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		phenotype Finding 6 1 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0 1
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0
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: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 32 3 0.100 None 0 1