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 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