NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Disease: Malan overgrowth syndrome ×
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: rs387907254
rs387907254 		1.000 0.240 19 13025172 missense variant T/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 0.800 1.000 4 2010 2015
dbSNP: rs387907255
rs387907255 		1.000 0.240 19 13025355 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 0.800 1.000 4 2010 2015
dbSNP: rs1568318932
rs1568318932 		0.925 0.240 19 13075673 splice donor variant T/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 1.000 2 2010 2015
dbSNP: rs587779381
rs587779381 		1.000 0.240 19 13073924 stop gained C/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 1.000 1 2014 2014
dbSNP: rs797045056
rs797045056 		1.000 0.240 19 13025330 frameshift variant -/AGATC 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 1.000 1 2016 2016
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: 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: 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: rs387907253
rs387907253 		0.925 0.240 19 13073055 stop gained C/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