NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0265211
Disease:
Marshall-Smith syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555696641
rs1555696641
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555705733
rs1555705733
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0265211
Disease:
Marshall-Smith syndrome
TC 0.700 CausalMutation CLINVAR
dbSNP: rs1568268397
rs1568268397
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1568268397
rs1568268397
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0265211
Disease:
Marshall-Smith syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1837260
Disease:
Prominent forehead
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1844505
Disease:
Pointed chin
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1846423
Disease:
Thick upper lip vermilion
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0344530
Disease:
Congenital keratoglobus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1865572
Disease:
Proximal placement of thumb
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C2673410
Disease:
Small midface
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C2749369
Disease:
Prominence of the premaxilla
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3150613
Disease:
Long toe
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0038379
Disease:
Strabismus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0015300
Disease:
Exophthalmos
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0264303
Disease:
Laryngomalacia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1833145
Disease:
Distal ulnar hypoplasia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0542514
Disease:
Blue sclera
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0557874
Disease:
Global developmental delay
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1858091
Disease:
Long fingers
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0344482
Disease:
Hypoplasia of corpus callosum
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1837404
Disease:
High, narrow palate
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568269273
rs1568269273
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1854114
Disease:
Short nose
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568318540
rs1568318540
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0265211
Disease:
Marshall-Smith syndrome
G 0.700 GeneticVariation CLINVAR Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
dbSNP: rs1568318932
rs1568318932
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome
C 0.700 GeneticVariation CLINVAR Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 25118028 2015