rs1318358361, ARID1B

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
0.040 GeneticVariation BEFREE Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620 2019
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
0.040 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
0.040 GeneticVariation BEFREE The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. 19215249 2009
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
0.040 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449 2006
Congenital abnormal Synostosis
CUI: C0039093
Disease: Congenital abnormal Synostosis
0.030 GeneticVariation BEFREE Considering that molecular diagnosis techniques can prove helpful in providing adequate genetic counseling and guidance, genetic screening for TWIST1 and FGFR3 p.P250R in cases of coronal synostosis is recommended. 22544111 2012
Congenital abnormal Synostosis
CUI: C0039093
Disease: Congenital abnormal Synostosis
0.030 GeneticVariation BEFREE Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. 20643727 2010
Congenital abnormal Synostosis
CUI: C0039093
Disease: Congenital abnormal Synostosis
0.030 GeneticVariation BEFREE Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 11424131 2001
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
0.020 GeneticVariation BEFREE Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation. 12087222 2002
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
0.020 GeneticVariation BEFREE Hence, while 68% of females carrying the P250R mutation showed brachycephaly, only 35% of males had the same phenotype. 9950359 1999
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
0.010 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
0.010 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.010 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
0.010 GeneticVariation BEFREE Sudden infant death in a patient with FGFR3 P250R mutation. 17103449 2006
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.010 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449 2006
Epithelial hyperplasia of skin
CUI: C0263641
Disease: Epithelial hyperplasia of skin
0.010 GeneticVariation BEFREE This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes. 11424131 2001
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.010 GeneticVariation BEFREE Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 11424131 2001
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males. 9950359 1999
Coronal craniosynostosis
CUI: C1856266
Disease: Coronal craniosynostosis
0.010 GeneticVariation BEFREE Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359 1999
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.010 GeneticVariation BEFREE The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R. 9279764 1997