PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Disease: Auriculo-condylar syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GeneticVariation disease BEFREE We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. 28328130 2017
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GeneticVariation disease BEFREE Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. 27007857 2016
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GermlineCausalMutation disease ORPHANET Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3. 22560091 2012
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 GeneticVariation disease BEFREE A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.630 Biomarker disease CTD_human