PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
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
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 CausalMutation disease CLINVAR Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 23315542 2013
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 GeneticVariation disease UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 CausalMutation disease CLINVAR A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 GeneticVariation disease CLINVAR
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 Biomarker disease HPO
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 Biomarker disease CTD_human
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.430 GeneticVariation disease BEFREE Uveal melanoma (UM), a rare cancer of the eye, is characterized by initiating mutations in the genes G-protein subunit alpha Q (<i>GNAQ</i>), G-protein subunit alpha 11 (<i>GNA11</i>), cysteinyl leukotriene receptor 2 (<i>CYSLTR2</i>), and phospholipase C beta 4 (<i>PLCB4</i>) and by metastasis-promoting mutations in the genes splicing factor 3B1 (<i>SF3B1</i>), serine and arginine rich splicing factor 2 (SRSF2), and BRCA1-associated protein 1 (<i>BAP1</i>). 31671564 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.430 GeneticVariation disease BEFREE Uveal melanoma (UM) is characterized by mutually exclusive activating mutations in GNAQ, GNA11, CYSLTR2, and PLCB4, four genes in a linear pathway to activation of PLCβ in almost all tumors and loss of BAP1 in the aggressive subset. 29490280 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.430 Biomarker disease CTD_human We analyzed genomics data from 136 uveal melanoma samples and found a recurrent mutation in CYSLTR2 (cysteinyl leukotriene receptor 2) encoding a p.Leu129Gln substitution in 4 of 9 samples that lacked mutations in GNAQ, GNA11, and PLCB4 but in 0 of 127 samples that harbored mutations in these genes. 27089179 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.430 GeneticVariation disease BEFREE Taken together these data suggest that the PLCB4 hotspot mutation is similarly a gain-of-function mutation leading to activation of the same signaling pathway, promoting UM tumorigenesis. 26683228 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.430 CausalMutation disease CLINVAR
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.310 GeneticVariation disease BEFREE Recently, recurrent CYSLTR2 and PLCB4 mutations were identified in uveal melanomas not harboring GNAQ or GNA11 mutations. 27934878 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.310 Biomarker disease CTD_human Exome sequencing identifies GRIN2A as frequently mutated in melanoma. 21499247 2011
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. 28328130 2017