rs1318358361, ARID1B

N. diseases: 13
Disease: Muenke Syndrome ×
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 P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449 2006
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 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 Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620 2019