Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5332
Gene name	Phospholipase C beta 4
Gene symbol	PLCB4
Synonyms (NCBI Gene)	ARCND2ARCND2AARCND2BPI-PLC
Chromosome	20
Chromosome location	20p12.3-p12.2
Summary	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907179	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397514480	A>G	Pathogenic	Coding sequence variant, missense variant
rs397514481	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397514482	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514483	A>C	Pathogenic	Coding sequence variant, missense variant
rs397514769	A>T	Pathogenic	Coding sequence variant, missense variant
rs397514770	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514771	A>T	Pathogenic	Coding sequence variant, missense variant
rs1057521489	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs1555839474	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568763104	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant

200

Show/Hide all (200)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021355	hsa-miR-9-5p	Microarray	17612493
MIRT028848	hsa-miR-26b-5p	Microarray	19088304
MIRT439952	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT439952	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assayWestern blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assayWestern blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assayWestern blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assayWestern blot	27484502
MIRT1239735	hsa-let-7a	CLIP-seq
MIRT1239736	hsa-let-7b	CLIP-seq
MIRT1239737	hsa-let-7c	CLIP-seq
MIRT1239738	hsa-let-7d	CLIP-seq
MIRT1239739	hsa-let-7e	CLIP-seq
MIRT1239740	hsa-let-7f	CLIP-seq
MIRT1239741	hsa-let-7g	CLIP-seq
MIRT1239742	hsa-let-7i	CLIP-seq
MIRT1239743	hsa-miR-1305	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT1239745	hsa-miR-183	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT1239747	hsa-miR-202	CLIP-seq
MIRT1239748	hsa-miR-214	CLIP-seq
MIRT1239749	hsa-miR-2276	CLIP-seq
MIRT1239750	hsa-miR-3120-3p	CLIP-seq
MIRT1239751	hsa-miR-3529	CLIP-seq
MIRT1239752	hsa-miR-3616-5p	CLIP-seq
MIRT1239753	hsa-miR-3619-5p	CLIP-seq
MIRT1239754	hsa-miR-3622b-5p	CLIP-seq
MIRT1239755	hsa-miR-3647-5p	CLIP-seq
MIRT1239756	hsa-miR-365	CLIP-seq
MIRT1239757	hsa-miR-3668	CLIP-seq
MIRT1239758	hsa-miR-379	CLIP-seq
MIRT1239759	hsa-miR-3924	CLIP-seq
MIRT1239760	hsa-miR-4451	CLIP-seq
MIRT1239761	hsa-miR-4458	CLIP-seq
MIRT1239762	hsa-miR-4500	CLIP-seq
MIRT1239763	hsa-miR-4502	CLIP-seq
MIRT1239764	hsa-miR-4635	CLIP-seq
MIRT1239765	hsa-miR-4650-3p	CLIP-seq
MIRT1239766	hsa-miR-4690-5p	CLIP-seq
MIRT1239767	hsa-miR-4760-3p	CLIP-seq
MIRT1239768	hsa-miR-4772-3p	CLIP-seq
MIRT1239769	hsa-miR-548u	CLIP-seq
MIRT1239770	hsa-miR-573	CLIP-seq
MIRT1239771	hsa-miR-576-3p	CLIP-seq
MIRT1239772	hsa-miR-591	CLIP-seq
MIRT1239773	hsa-miR-607	CLIP-seq
MIRT1239774	hsa-miR-761	CLIP-seq
MIRT1239775	hsa-miR-891b	CLIP-seq
MIRT1239776	hsa-miR-98	CLIP-seq
MIRT2070494	hsa-miR-1264	CLIP-seq
MIRT2070495	hsa-miR-1271	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT2070497	hsa-miR-1303	CLIP-seq
MIRT2070498	hsa-miR-1324	CLIP-seq
MIRT2070499	hsa-miR-182	CLIP-seq
MIRT2070500	hsa-miR-2052	CLIP-seq
MIRT2070501	hsa-miR-23a	CLIP-seq
MIRT2070502	hsa-miR-23b	CLIP-seq
MIRT2070503	hsa-miR-23c	CLIP-seq
MIRT2070504	hsa-miR-24	CLIP-seq
MIRT2070505	hsa-miR-3121-5p	CLIP-seq
MIRT2070506	hsa-miR-3123	CLIP-seq
MIRT2070507	hsa-miR-3146	CLIP-seq
MIRT1239754	hsa-miR-3622b-5p	CLIP-seq
MIRT2070508	hsa-miR-3925-5p	CLIP-seq
MIRT2070509	hsa-miR-4277	CLIP-seq
MIRT2070510	hsa-miR-4279	CLIP-seq
MIRT2070511	hsa-miR-4284	CLIP-seq
MIRT2070512	hsa-miR-4528	CLIP-seq
MIRT2070513	hsa-miR-4699-3p	CLIP-seq
MIRT2070514	hsa-miR-4729	CLIP-seq
MIRT2070515	hsa-miR-4775	CLIP-seq
MIRT2070516	hsa-miR-4789-3p	CLIP-seq
MIRT2070517	hsa-miR-548n	CLIP-seq
MIRT2070518	hsa-miR-548t	CLIP-seq
MIRT2070519	hsa-miR-96	CLIP-seq
MIRT1239735	hsa-let-7a	CLIP-seq
MIRT1239736	hsa-let-7b	CLIP-seq
MIRT1239737	hsa-let-7c	CLIP-seq
MIRT1239738	hsa-let-7d	CLIP-seq
MIRT1239739	hsa-let-7e	CLIP-seq
MIRT1239740	hsa-let-7f	CLIP-seq
MIRT1239741	hsa-let-7g	CLIP-seq
MIRT1239742	hsa-let-7i	CLIP-seq
MIRT2297638	hsa-miR-1183	CLIP-seq
MIRT2297639	hsa-miR-1228	CLIP-seq
MIRT2297640	hsa-miR-124	CLIP-seq
MIRT2070494	hsa-miR-1264	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT2070497	hsa-miR-1303	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT1239745	hsa-miR-183	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT1239747	hsa-miR-202	CLIP-seq
MIRT2297641	hsa-miR-3119	CLIP-seq
MIRT2297642	hsa-miR-3121-3p	CLIP-seq
MIRT2070506	hsa-miR-3123	CLIP-seq
MIRT2297643	hsa-miR-3137	CLIP-seq
MIRT2070507	hsa-miR-3146	CLIP-seq
MIRT2297644	hsa-miR-3168	CLIP-seq
MIRT1239754	hsa-miR-3622b-5p	CLIP-seq
MIRT1239757	hsa-miR-3668	CLIP-seq
MIRT2297645	hsa-miR-3714	CLIP-seq
MIRT2297646	hsa-miR-377	CLIP-seq
MIRT2297647	hsa-miR-3910	CLIP-seq
MIRT2070508	hsa-miR-3925-5p	CLIP-seq
MIRT2297648	hsa-miR-4268	CLIP-seq
MIRT2297649	hsa-miR-4305	CLIP-seq
MIRT2297650	hsa-miR-4428	CLIP-seq
MIRT1239761	hsa-miR-4458	CLIP-seq
MIRT1239762	hsa-miR-4500	CLIP-seq
MIRT1239763	hsa-miR-4502	CLIP-seq
MIRT2070512	hsa-miR-4528	CLIP-seq
MIRT2297651	hsa-miR-4655-5p	CLIP-seq
MIRT2070513	hsa-miR-4699-3p	CLIP-seq
MIRT2297652	hsa-miR-4719	CLIP-seq
MIRT2070514	hsa-miR-4729	CLIP-seq
MIRT1239767	hsa-miR-4760-3p	CLIP-seq
MIRT2070515	hsa-miR-4775	CLIP-seq
MIRT2297653	hsa-miR-4777-5p	CLIP-seq
MIRT2297654	hsa-miR-506	CLIP-seq
MIRT2297655	hsa-miR-513b	CLIP-seq
MIRT2297656	hsa-miR-518d-5p	CLIP-seq
MIRT2297657	hsa-miR-519b-5p	CLIP-seq
MIRT2297658	hsa-miR-519c-5p	CLIP-seq
MIRT2297659	hsa-miR-520c-5p	CLIP-seq
MIRT2297660	hsa-miR-526a	CLIP-seq
MIRT2070517	hsa-miR-548n	CLIP-seq
MIRT2297661	hsa-miR-548p	CLIP-seq
MIRT2070518	hsa-miR-548t	CLIP-seq
MIRT1239769	hsa-miR-548u	CLIP-seq
MIRT1239771	hsa-miR-576-3p	CLIP-seq
MIRT2297662	hsa-miR-587	CLIP-seq
MIRT1239772	hsa-miR-591	CLIP-seq
MIRT2297663	hsa-miR-888	CLIP-seq
MIRT2297664	hsa-miR-9	CLIP-seq
MIRT1239776	hsa-miR-98	CLIP-seq
MIRT2070494	hsa-miR-1264	CLIP-seq
MIRT2070507	hsa-miR-3146	CLIP-seq
MIRT2070512	hsa-miR-4528	CLIP-seq
MIRT2070517	hsa-miR-548n	CLIP-seq
MIRT2070518	hsa-miR-548t	CLIP-seq
MIRT1239735	hsa-let-7a	CLIP-seq
MIRT1239736	hsa-let-7b	CLIP-seq
MIRT1239737	hsa-let-7c	CLIP-seq
MIRT1239738	hsa-let-7d	CLIP-seq
MIRT1239739	hsa-let-7e	CLIP-seq
MIRT1239740	hsa-let-7f	CLIP-seq
MIRT1239741	hsa-let-7g	CLIP-seq
MIRT1239742	hsa-let-7i	CLIP-seq
MIRT2297638	hsa-miR-1183	CLIP-seq
MIRT2595153	hsa-miR-1200	CLIP-seq
MIRT2070495	hsa-miR-1271	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT2070499	hsa-miR-182	CLIP-seq
MIRT2595154	hsa-miR-190	CLIP-seq
MIRT2595155	hsa-miR-190b	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT1239747	hsa-miR-202	CLIP-seq
MIRT2070500	hsa-miR-2052	CLIP-seq
MIRT2595156	hsa-miR-3074-5p	CLIP-seq
MIRT2070505	hsa-miR-3121-5p	CLIP-seq
MIRT2297643	hsa-miR-3137	CLIP-seq
MIRT2595157	hsa-miR-3145-3p	CLIP-seq
MIRT1239757	hsa-miR-3668	CLIP-seq
MIRT2595158	hsa-miR-3974	CLIP-seq
MIRT2070509	hsa-miR-4277	CLIP-seq
MIRT2070510	hsa-miR-4279	CLIP-seq
MIRT2595159	hsa-miR-4282	CLIP-seq
MIRT1239761	hsa-miR-4458	CLIP-seq
MIRT1239762	hsa-miR-4500	CLIP-seq
MIRT1239763	hsa-miR-4502	CLIP-seq
MIRT2595160	hsa-miR-450b-5p	CLIP-seq
MIRT2070516	hsa-miR-4789-3p	CLIP-seq
MIRT2595161	hsa-miR-507	CLIP-seq
MIRT2595162	hsa-miR-518a-5p	CLIP-seq
MIRT2595163	hsa-miR-527	CLIP-seq
MIRT2297661	hsa-miR-548p	CLIP-seq
MIRT2595164	hsa-miR-557	CLIP-seq
MIRT1239771	hsa-miR-576-3p	CLIP-seq
MIRT2595165	hsa-miR-944	CLIP-seq
MIRT2070519	hsa-miR-96	CLIP-seq
MIRT1239776	hsa-miR-98	CLIP-seq
MIRT2297638	hsa-miR-1183	CLIP-seq
MIRT2070495	hsa-miR-1271	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT2070499	hsa-miR-182	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT2070500	hsa-miR-2052	CLIP-seq
MIRT2070505	hsa-miR-3121-5p	CLIP-seq
MIRT2297643	hsa-miR-3137	CLIP-seq
MIRT2595157	hsa-miR-3145-3p	CLIP-seq
MIRT2070509	hsa-miR-4277	CLIP-seq
MIRT2070510	hsa-miR-4279	CLIP-seq
MIRT2070516	hsa-miR-4789-3p	CLIP-seq
MIRT2297661	hsa-miR-548p	CLIP-seq
MIRT2070519	hsa-miR-96	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IBA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004629	Function	Phospholipase C activity	IEA
GO:0004629	Function	Phospholipase C activity	TAS	8530101
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	35284927
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IBA
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0120548	Function	Phosphatidylinositol phospholipase C activity	IEA
GO:0160135	Process	Phospholipase C-activating endothelin receptor signaling pathway	IDA	35284927

MIM	HGNC	e!Ensembl
600810	9059	ENSG00000101333

Q15147

Protein name

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-4) (Phospholipase C-beta-4) (PLC-beta-4)

Protein function

Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G-protein coupled receptor signaling pathways. PLCB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17787	PH_14	12 → 140	PH domain	Domain
PF09279	EF-hand_like	209 → 305	Phosphoinositide-specific phospholipase C, efhand-like	Domain
PF00388	PI-PLC-X	315 → 464	Phosphatidylinositol-specific phospholipase C, X domain	Family
PF00387	PI-PLC-Y	565 → 679	Phosphatidylinositol-specific phospholipase C, Y domain	Family
PF00168	C2	701 → 803	C2 domain	Domain
PF06631	DUF1154	913 → 955	Protein of unknown function (DUF1154)	Family

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed in the retina.

Sequence

MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVL
ECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPE
VTKQWVEGLRSIIHNFRANNVSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEK
VIFQALKELGLPSGKNDEIEPTAFSYEKFYELTQKICPRTDIEDLFKKINGDKTDYLTVD
QLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDEDLKKKGLISSDGFCRYLMSDE
NAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVLLAGCRCVELD
CWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKM
SKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSM
MEAGESASPANILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLV
TVEDEQAWMASYKYVGATTNIHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVG
LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWNAGCQMVSLNYQTPDLAMQL
NQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIAATCSVQVISGQFLSDKKIGT
YVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVLRIAVYDDNNK
LIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKK
FLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAA
LASGVEAKKGIELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQ
VDKIVAQYDKEKSTHEKILEKAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQH
TKEWSEMINTHSAEEQEIRDLHLSQQCELLKKLLINAHEQQTQQLKLSHDRESKEMRAHQ
AKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLEERKRLAMKQSKEMDQLKKVQ
LEHLEFLEKQNEQAKEMQQMVKLEAEMDRRPATVV

Sequence length

1175

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs1568763104	RCV001526544	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auriculocondylar syndrome	Pathogenic	rs397514481	RCV001249753	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auriculocondylar syndrome 1	Pathogenic	rs387907179, rs397514480, rs397514481, rs397514482, rs397514483	RCV000191052 RCV000191054 RCV000191053 RCV000191051 RCV000191055	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auriculocondylar syndrome 2	Likely pathogenic; Pathogenic	rs2037778050, rs2516002006, rs397514480, rs387907179, rs397514481, rs397514482, rs397514483, rs1568763104, rs397514769, rs397514770, rs397514771	RCV001332615 RCV002284990 RCV000024333 RCV000024334 RCV000024335 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular melanocytosis	Pathogenic	rs1568763104	RCV000782129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Pathogenic	rs1568763104	RCV000782129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AURICULO-CONDYLAR SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURICULOCONDYLAR SYNDROME 2A	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURICULOCONDYLAR SYNDROME 2B	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLCB4-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (76)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31080817		★★★★★ ★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	26434682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auriculo-condylar syndrome	Auriculocondylar syndrome	BEFREE	22560091, 27007857, 28328130		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome	Auriculocondylar syndrome	ORPHANET_DG	22560091		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome	Auriculocondylar syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome	Auriculocondylar syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auriculocondylar syndrome	Auriculocondylar Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auriculocondylar syndrome 1	Auriculocondylar Syndrome	CLINVAR_DG	22560091		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auriculocondylar syndrome 1	Auriculocondylar Syndrome	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auriculocondylar syndrome 1	Auriculocondylar Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auriculocondylar syndrome 1	Auriculocondylar Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AURICULOCONDYLAR SYNDROME 2	Auriculocondylar Syndrome	UNIPROT_DG	22560091		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AURICULOCONDYLAR SYNDROME 2	Auriculocondylar Syndrome	GENOMICS_ENGLAND_DG	22560091		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AURICULOCONDYLAR SYNDROME 2	Auriculocondylar Syndrome	CLINVAR_DG	23315542		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29064472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	29122926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29512753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29512753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34905385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30896816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35255936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Apnea	Apnea	BEFREE	23913798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31788080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32420374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31729423, 36927770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	22560091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	26434682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	26434682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	29447178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27293319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16114046, 18314001, 22560091, 23315542, 27007857, 28328130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22706224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22608312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	29122926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28212550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	28212550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22111715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21880371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29512753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30896816		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21499247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	27934878		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	34905385	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	21494683	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21494683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21880371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	26434682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	26434682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	32886284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16114046, 18314001, 22560091, 23315542, 27007857, 28328130		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22111715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27934878, 29490280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	27934878, 31162285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31080817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular melanosis	Ocular Melanosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34899595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	21494683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periauricular skin pits	Periauricular skin pits	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	GWASCAT_DG	29064472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29064472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	23913798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	21880371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	26683228, 29490280, 31671564		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Uveal melanoma	Pubtator	26683228, 27934878, 29726589, 31186267, 32415113, 33348918, 34905385	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Uveal Melanoma	CTD_human_DG	27089179		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Uveal Melanoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vein of Galen aneurysm	Vein Of Galen Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PLCB4 (phospholipase C beta 4)