NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1135401802
rs1135401802 		1.000 0.240 19 13025066 frameshift variant G/- del
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555696597
rs1555696597 		1.000 0.240 19 13025330 missense variant A/G snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555696611
rs1555696611 		0.925 0.240 19 13025350 frameshift variant C/- delins
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555696611
rs1555696611 		0.925 0.240 19 13025350 frameshift variant C/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1555696641
rs1555696641 		1.000 0.240 19 13025460 missense variant G/C snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555705733
rs1555705733 		1.000 0.120 19 13075641 frameshift variant -/C delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568268397
rs1568268397 		0.925 0.240 19 13025129 stop gained A/T snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568268397
rs1568268397 		0.925 0.240 19 13025129 stop gained A/T snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C3150613
Disease: Long toe
Long toe 		0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		Eye Diseases 0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C1858091
Disease: Long fingers
Long fingers 		0.700 0
dbSNP: rs1568269273
rs1568269273 		0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0