rs121918494, FGFR2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
0.010 GeneticVariation BEFREE Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant). 27683237 2017
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.800 CausalMutation CLINVAR
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
Abnormality of the posterior cranial fossa
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
0.700 GeneticVariation CLINVAR
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
0.700 GeneticVariation CLINVAR
Dilation of lateral ventricles
CUI: C1856409
Disease: Dilation of lateral ventricles
0.700 GeneticVariation CLINVAR
Short neck
CUI: C0521525
Disease: Short neck
0.700 GeneticVariation CLINVAR
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
0.700 GeneticVariation CLINVAR
Shallow orbits
CUI: C1865244
Disease: Shallow orbits
0.700 GeneticVariation CLINVAR
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
0.700 GeneticVariation CLINVAR
High forehead
CUI: C0239676
Disease: High forehead
0.700 GeneticVariation CLINVAR
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
0.700 GeneticVariation CLINVAR
Flat occiput
CUI: C1837402
Disease: Flat occiput
0.700 GeneticVariation CLINVAR
Cranial asymmetry
CUI: C1860245
Disease: Cranial asymmetry
0.700 GeneticVariation CLINVAR
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994
Mild fetal ventriculomegaly
CUI: C4023628
Disease: Mild fetal ventriculomegaly
0.700 GeneticVariation CLINVAR
Abnormality of the zygomatic bone
CUI: C4023749
Disease: Abnormality of the zygomatic bone
0.700 GeneticVariation CLINVAR
Brachyturricephaly
CUI: C1857484
Disease: Brachyturricephaly
0.700 GeneticVariation CLINVAR
Deviated nasal septum
CUI: C0549397
Disease: Deviated nasal septum
0.700 GeneticVariation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 GeneticVariation CLINVAR
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.700 GeneticVariation CLINVAR
Hypointensity of cerebral white matter on MRI
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
0.700 GeneticVariation CLINVAR
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 GeneticVariation CLINVAR
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
0.700 GeneticVariation CLINVAR
Choanal stenosis
CUI: C0584837
Disease: Choanal stenosis
0.700 GeneticVariation CLINVAR