PLCB4 (phospholipase C beta 4)

Gene

• Entrez ID: 5332
• Gene name: Phospholipase C beta 4
• Gene symbol: PLCB4
• Synonyms: ARCND2, ARCND2A, ARCND2B, PI-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

SNPs

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

miRNA

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 assay, Western blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IBA	21873635
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0014069	Component	Postsynaptic density	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0030425	Component	Dendrite	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 600810
• HGNC: 9059
• e!Ensembl: ENSG00000101333

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 1175

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
Chemokine signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Wnt signaling pathway
Apelin signaling pathway
Gap junction
Platelet activation
Neutrophil extracellular trap formation
NOD-like receptor signaling pathway
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Taste transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
AGE-RAGE signaling pathway in diabetic complications
Cushing syndrome
Growth hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Carbohydrate digestion and absorption
Alzheimer disease
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Shigellosis
Chagas disease
African trypanosomiasis
Amoebiasis
Human cytomegalovirus infection
Pathways in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis

Reactome:

PLC beta mediated events
Synthesis of IP3 and IP4 in the cytosol
G alpha (q) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Auriculocondylar syndrome	Auriculo-condylar syndrome, AURICULOCONDYLAR SYNDROME 2, Auriculocondylar syndrome 1, Auriculocondylar syndrome	rs387907178, rs397514480, rs387907179, rs397514481, rs397514482, rs397514483, rs397514768, rs397514769, rs397514770, rs397514771, rs587777231, rs587777232, rs1553223897	22560091, 23315542, 22560091
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	21499247
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	18314001, 27007857, 23315542, 28328130, 22560091, 16114046
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	29064472
Uveal melanoma	Uveal melanoma	rs1559588632	27089179

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		29064472
Dysmorphic features	Dysmorphic features		27007857, 23315542, 22560091, 16114046, 28328130, 18314001
Glossoptosis	Glossoptosis
Microglossia	Microglossia
Microstomia	Microstomia
Microtia	Congenital small ears		22560091
Ocular melanosis	Ocular melanosis
Periauricular skin pits	Periauricular skin pits
Posteriorly rotated ear	Posteriorly rotated ear
Ptosis	Blepharoptosis, Ptosis	rs139920573
Schizoaffective disorder	Schizoaffective Disorder		29064472
Sleep apnea	Sleep Apnea, Obstructive
Vein of galen aneurysm	Vein of Galen aneurysm	rs148223897, rs1554688023