Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		disease 0.790 None 1.000 4 11 2010 2019
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		disease 0.740 None 1.000 3 17 2010 2018
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease 0.100 None 0 2
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		disease 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 2
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1833145
Disease: Distal ulnar hypoplasia
Distal ulnar hypoplasia 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 2
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 1