rs397514481, PLCB4

N. diseases: 5
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. 28328130 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. 27007857 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 23315542 2013
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Question mark ears and post-auricular tags. 18314001 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. 16114046 2005