GNAQ (G protein subunit alpha q)

Gene

• Entrez ID: 2776
• Gene name: G protein subunit alpha q
• Gene symbol: GNAQ
• Synonyms (NCBI Gene): CMAL, CMC1, G-ALPHA-q, GAQ, SWS
• Chromosome: 9
• Chromosome location: 9q21.2
• Summary: This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913492	T>A,C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397514698	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057519853	TG>AA	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021640	hsa-miR-142-3p	Microarray	17612493
MIRT021961	hsa-miR-128-3p	Microarray	17612493
MIRT030765	hsa-miR-21-5p	Microarray	18591254
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT614978	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614976	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT562279	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT562278	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562277	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562276	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562275	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562274	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562272	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT562273	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	28735896
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	28735896
MIRT614978	hsa-miR-767-5p	HITS-CLIP	28735896
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT614978	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614976	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT562279	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT562278	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562277	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562276	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562275	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562274	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562272	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT562273	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT1023536	hsa-miR-1207-5p	CLIP-seq
MIRT1023537	hsa-miR-1271	CLIP-seq
MIRT1023538	hsa-miR-1321	CLIP-seq
MIRT1023539	hsa-miR-15a	CLIP-seq
MIRT1023540	hsa-miR-15b	CLIP-seq
MIRT1023541	hsa-miR-16	CLIP-seq
MIRT1023542	hsa-miR-182	CLIP-seq
MIRT1023543	hsa-miR-195	CLIP-seq
MIRT1023544	hsa-miR-202	CLIP-seq
MIRT1023545	hsa-miR-2114	CLIP-seq
MIRT1023546	hsa-miR-30a	CLIP-seq
MIRT1023547	hsa-miR-30b	CLIP-seq
MIRT1023548	hsa-miR-30c	CLIP-seq
MIRT1023549	hsa-miR-30d	CLIP-seq
MIRT1023550	hsa-miR-30e	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT1023552	hsa-miR-3125	CLIP-seq
MIRT1023553	hsa-miR-3132	CLIP-seq
MIRT1023554	hsa-miR-3136-5p	CLIP-seq
MIRT1023555	hsa-miR-3141	CLIP-seq
MIRT1023556	hsa-miR-3152-5p	CLIP-seq
MIRT1023557	hsa-miR-3163	CLIP-seq
MIRT1023558	hsa-miR-3199	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT1023560	hsa-miR-342-3p	CLIP-seq
MIRT1023561	hsa-miR-3651	CLIP-seq
MIRT1023562	hsa-miR-3653	CLIP-seq
MIRT1023563	hsa-miR-3656	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT1023565	hsa-miR-3916	CLIP-seq
MIRT1023566	hsa-miR-3976	CLIP-seq
MIRT1023567	hsa-miR-424	CLIP-seq
MIRT1023568	hsa-miR-425	CLIP-seq
MIRT1023569	hsa-miR-4251	CLIP-seq
MIRT1023570	hsa-miR-4291	CLIP-seq
MIRT1023571	hsa-miR-4310	CLIP-seq
MIRT1023572	hsa-miR-4314	CLIP-seq
MIRT1023573	hsa-miR-4321	CLIP-seq
MIRT1023574	hsa-miR-4419a	CLIP-seq
MIRT1023575	hsa-miR-4433	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT1023577	hsa-miR-4439	CLIP-seq
MIRT1023578	hsa-miR-4457	CLIP-seq
MIRT1023579	hsa-miR-4459	CLIP-seq
MIRT1023580	hsa-miR-4510	CLIP-seq
MIRT1023581	hsa-miR-4513	CLIP-seq
MIRT1023582	hsa-miR-4524	CLIP-seq
MIRT1023583	hsa-miR-4662a-3p	CLIP-seq
MIRT1023584	hsa-miR-4714-3p	CLIP-seq
MIRT1023585	hsa-miR-4731-5p	CLIP-seq
MIRT1023586	hsa-miR-4733-3p	CLIP-seq
MIRT1023587	hsa-miR-4739	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT1023589	hsa-miR-4756-5p	CLIP-seq
MIRT1023590	hsa-miR-4763-3p	CLIP-seq
MIRT1023591	hsa-miR-4768-3p	CLIP-seq
MIRT1023592	hsa-miR-4774-3p	CLIP-seq
MIRT1023593	hsa-miR-4779	CLIP-seq
MIRT1023594	hsa-miR-4781-5p	CLIP-seq
MIRT1023595	hsa-miR-4789-3p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT1023597	hsa-miR-493	CLIP-seq
MIRT1023598	hsa-miR-497	CLIP-seq
MIRT1023599	hsa-miR-503	CLIP-seq
MIRT1023600	hsa-miR-513b	CLIP-seq
MIRT1023601	hsa-miR-514	CLIP-seq
MIRT1023602	hsa-miR-514b-3p	CLIP-seq
MIRT1023603	hsa-miR-548ag	CLIP-seq
MIRT1023604	hsa-miR-548ai	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023606	hsa-miR-574-3p	CLIP-seq
MIRT1023607	hsa-miR-579	CLIP-seq
MIRT1023608	hsa-miR-580	CLIP-seq
MIRT1023609	hsa-miR-581	CLIP-seq
MIRT1023610	hsa-miR-624	CLIP-seq
MIRT1023611	hsa-miR-642a	CLIP-seq
MIRT1023612	hsa-miR-646	CLIP-seq
MIRT1023613	hsa-miR-664	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq
MIRT1023615	hsa-miR-96	CLIP-seq
MIRT2003534	hsa-miR-1204	CLIP-seq
MIRT1023536	hsa-miR-1207-5p	CLIP-seq
MIRT2003535	hsa-miR-1267	CLIP-seq
MIRT1023537	hsa-miR-1271	CLIP-seq
MIRT2003536	hsa-miR-135a	CLIP-seq
MIRT2003537	hsa-miR-135b	CLIP-seq
MIRT1023542	hsa-miR-182	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT1023555	hsa-miR-3141	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2003539	hsa-miR-3921	CLIP-seq
MIRT2003540	hsa-miR-3945	CLIP-seq
MIRT2003541	hsa-miR-4253	CLIP-seq
MIRT2003542	hsa-miR-4303	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT2003543	hsa-miR-448	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2003545	hsa-miR-4642	CLIP-seq
MIRT2003546	hsa-miR-4653-5p	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT2003547	hsa-miR-4760-5p	CLIP-seq
MIRT1023590	hsa-miR-4763-3p	CLIP-seq
MIRT2003548	hsa-miR-4768-5p	CLIP-seq
MIRT1023595	hsa-miR-4789-3p	CLIP-seq
MIRT2003549	hsa-miR-491-3p	CLIP-seq
MIRT1023597	hsa-miR-493	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT1023615	hsa-miR-96	CLIP-seq
MIRT1023536	hsa-miR-1207-5p	CLIP-seq
MIRT2003535	hsa-miR-1267	CLIP-seq
MIRT1023537	hsa-miR-1271	CLIP-seq
MIRT2236342	hsa-miR-144	CLIP-seq
MIRT1023539	hsa-miR-15a	CLIP-seq
MIRT1023540	hsa-miR-15b	CLIP-seq
MIRT1023541	hsa-miR-16	CLIP-seq
MIRT1023542	hsa-miR-182	CLIP-seq
MIRT2236343	hsa-miR-1914	CLIP-seq
MIRT1023543	hsa-miR-195	CLIP-seq
MIRT2236344	hsa-miR-2276	CLIP-seq
MIRT1023553	hsa-miR-3132	CLIP-seq
MIRT1023555	hsa-miR-3141	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2236345	hsa-miR-3612	CLIP-seq
MIRT1023561	hsa-miR-3651	CLIP-seq
MIRT1023563	hsa-miR-3656	CLIP-seq
MIRT1023567	hsa-miR-424	CLIP-seq
MIRT2236346	hsa-miR-4266	CLIP-seq
MIRT2236347	hsa-miR-4297	CLIP-seq
MIRT1023572	hsa-miR-4314	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT1023582	hsa-miR-4524	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2003545	hsa-miR-4642	CLIP-seq
MIRT2236348	hsa-miR-4645-3p	CLIP-seq
MIRT2236349	hsa-miR-4695-5p	CLIP-seq
MIRT2236350	hsa-miR-4711-3p	CLIP-seq
MIRT2236351	hsa-miR-4722-3p	CLIP-seq
MIRT1023586	hsa-miR-4733-3p	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT1023590	hsa-miR-4763-3p	CLIP-seq
MIRT2236352	hsa-miR-4772-3p	CLIP-seq
MIRT1023593	hsa-miR-4779	CLIP-seq
MIRT2236353	hsa-miR-488	CLIP-seq
MIRT1023598	hsa-miR-497	CLIP-seq
MIRT1023599	hsa-miR-503	CLIP-seq
MIRT2236354	hsa-miR-511	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT2236355	hsa-miR-640	CLIP-seq
MIRT1023612	hsa-miR-646	CLIP-seq
MIRT2236356	hsa-miR-650	CLIP-seq
MIRT1023615	hsa-miR-96	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT1023561	hsa-miR-3651	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT1023586	hsa-miR-4733-3p	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq
MIRT2236342	hsa-miR-144	CLIP-seq
MIRT2540086	hsa-miR-1537	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT1023552	hsa-miR-3125	CLIP-seq
MIRT1023556	hsa-miR-3152-5p	CLIP-seq
MIRT2540087	hsa-miR-330-3p	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2540088	hsa-miR-3692	CLIP-seq
MIRT2540089	hsa-miR-3713	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT1023565	hsa-miR-3916	CLIP-seq
MIRT2003540	hsa-miR-3945	CLIP-seq
MIRT1023566	hsa-miR-3976	CLIP-seq
MIRT2003541	hsa-miR-4253	CLIP-seq
MIRT1023578	hsa-miR-4457	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2236348	hsa-miR-4645-3p	CLIP-seq
MIRT1023583	hsa-miR-4662a-3p	CLIP-seq
MIRT2003547	hsa-miR-4760-5p	CLIP-seq
MIRT1023592	hsa-miR-4774-3p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT2003549	hsa-miR-491-3p	CLIP-seq
MIRT1023600	hsa-miR-513b	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2540090	hsa-miR-548aa	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023608	hsa-miR-580	CLIP-seq
MIRT1023610	hsa-miR-624	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq
MIRT2236342	hsa-miR-144	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT2540087	hsa-miR-330-3p	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2540089	hsa-miR-3713	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT2003540	hsa-miR-3945	CLIP-seq
MIRT2003541	hsa-miR-4253	CLIP-seq
MIRT1023578	hsa-miR-4457	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2236348	hsa-miR-4645-3p	CLIP-seq
MIRT2003547	hsa-miR-4760-5p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT2003549	hsa-miR-491-3p	CLIP-seq
MIRT1023600	hsa-miR-513b	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023608	hsa-miR-580	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	9238049
GO:0003925	Function	G protein activity	IDA	11024015, 37991948
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	15611106
GO:0005515	Function	Protein binding	IPI	18672896, 18772143, 22056876, 22750945, 23353685, 23994616, 27265506, 34110646
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	TAS	9175863
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005794	Component	Golgi apparatus	IEA
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005886	Component	Plasma membrane	IDA	19001095
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9175863, 10633085
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	37991948
GO:0007206	Process	Phospholipase C-activating G protein-coupled glutamate receptor signaling pathway	IDA	8253813
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	37991948
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	IBA
GO:0007218	Process	Neuropeptide signaling pathway	IDA	11024015
GO:0007596	Process	Blood coagulation	TAS	9238049
GO:0007603	Process	Phototransduction, visible light	ISS
GO:0009649	Process	Entrainment of circadian clock	ISS
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	31911434
GO:0010543	Process	Regulation of platelet activation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030234	Function	Enzyme regulator activity	IDA	37991948
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034695	Process	Response to prostaglandin E	IDA	8253813
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IMP	20399743
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	20399743
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0071468	Process	Cellular response to acidic pH	IDA	39753132
GO:0099524	Component	Postsynaptic cytosol	IDA	27276689
GO:0140582	Process	Adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway	IDA	35932760

Other IDs

• MIM: 600998
• HGNC: 4390
• e!Ensembl: ENSG00000156052

Protein

• UniProt ID: P50148
• Protein name: Guanine nucleotide-binding protein G(q) subunit alpha (EC 3.6.5.-) (Guanine nucleotide-binding protein alpha-q)
• Protein function: Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alterna
• PDB: 6VU5, 7EZM, 7F6G, 7F6H, 7F6I, 7F8W, 7W3Z, 7W40, 7XOW, 8G59, 8IA7, 8IYS, 8J9N, 8JPB, 8JPC, 8JPE, 8SZG, 8UQN, 8UQO, 8XGO, 8XGS, 8Y52, 8ZJD, 8ZJE, 9K27
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00503	G-alpha	19 → 348	G-protein alpha subunit	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level). {ECO:0000269|PubMed:21923740, ECO:0000269|PubMed:8664309}.
• Sequence:

  MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMR
  IIHGSGYSDEDKRGFTKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEK
  VSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAYLPTQQDVL
  RVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
  ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQR
  DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

• Sequence length: 359

Pathways

KEGG:

Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
Chemokine signaling pathway
Sphingolipid signaling pathway
Hormone signaling
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Apelin signaling pathway
Gap junction
Platelet activation
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Alzheimer disease
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Yersinia infection
Chagas disease
African trypanosomiasis
Amoebiasis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Acetylcholine regulates insulin secretion
G alpha (q) signalling events
ADP signalling through P2Y purinoceptor 1
Thromboxane signalling through TP receptor
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Thrombin signalling through proteinase activated receptors (PARs)

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cardiovascular system morphology	Pathogenic	rs121913492	RCV001327979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angioosteohypertrophic syndrome	Likely pathogenic; Pathogenic	rs397514698	RCV001526638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Capillary malformation	Pathogenic; Likely pathogenic	rs2118444312, rs397514698	RCV006254277 RCV000043593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial multiple nevi flammei	Pathogenic; Likely pathogenic	rs2118444312, rs1826677470, rs397514698	RCV001526533 RCV001526532 RCV003445402 RCV002294003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNAQ-related disorder	Likely pathogenic; Pathogenic	rs397514698	RCV005229860	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemangiomatosis	Likely pathogenic; Pathogenic	rs397514698	RCV001526543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs397514698	RCV003221795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs397514698	RCV004668764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Segmental undergrowth associated with capillary malformation	Pathogenic; Likely pathogenic	rs397514698	RCV001706748 RCV001705695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber syndrome	Likely pathogenic; Pathogenic	rs2118276763, rs121913492, rs397514698	RCV003458178 RCV004563306 RCV003458165 RCV000043592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANASTOMOSING HAEMANGIOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATIONS, CONGENITAL	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEMANGIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-TRENAUNAY-WEBER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningeal melanocytoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myxoid glioneuronal tumor	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORT-WINE STAIN	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anisometropia	Anisometropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	21923740	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21923740	Inhibit	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	CTD_human_DG	9296496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	27919468	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29206651		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18705646	Associate	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	26368330, 28120216, 30422215, 30870248, 31532024, 31692010		★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30352874	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	11581306	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30849518		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33807071	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30849518	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	37750536	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29980281, 36780540	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	19936769, 34031065	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	28179590	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36129915	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	31551903		★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	BEFREE	6601089		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32613723	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	30853154		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	28444874		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	9687499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemangioma	Congenital Hemangioma	BEFREE	27058448, 30422215, 31189994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemangioma	Congenital Hemangioma	GENOMICS_ENGLAND_DG	27058448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemihypertrophy	Congenital Hemihypertrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17720980, 21548979, 29867936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	37894940	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29030095, 29709499, 30085131, 30543802, 31764344		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25560761, 28860016		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24603971	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	37452404	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28779688, 29274110		★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	BEFREE	23599145		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	28295484		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	BEFREE	30537484		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30529712		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	16267159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	19718445	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28779688		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	33707187	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37053535	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17720980, 21548979, 29867936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Hemangioma	BEFREE	28084343, 30537484, 31189994, 31336681		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma of choroid	Hemangioma Of Choroid	BEFREE	30422215, 30537484, 31336681		★☆☆☆☆ Found in Text Mining only
Hemangioma of choroid	Hemangioma Of Choroid	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	LHGDN	11848441		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	21072599		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	28295484		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	16267159		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	34385710	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28400465		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	28860016, 30778326		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36440997	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	36694982	Associate	★☆☆☆☆ Found in Text Mining only
Inferior lens subluxation	Inferior lens subluxation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kaposiform Hemangioendothelioma	Kaposiform Hemangioendothelioma	BEFREE	29975248		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	30849518	Stimulate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	18326504		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19718445	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30601876	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11930011, 37240145	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	ORPHANET_DG	21083380, 23714557		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant melanoma of ciliary body	Ciliary body melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	ORPHANET_DG	21083380, 23714557		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	BEFREE	28700778		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29206651		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31730812		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18719078, 23177739, 24882515, 25188413, 27090685, 28798325, 30849518		★☆☆☆☆ Found in Text Mining only
Meibomian Cyst	Meibomian Cyst	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	19078957, 28809862, 29332123		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CLINVAR_DG	1328859, 18719078, 19078957, 21083380, 22253748, 22653968, 22733540, 22808163, 2549426		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	18719078		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	18719078, 19936769, 20424519, 22236444, 22536370, 22653968, 24345920, 24591764, 25030020, 26076063, 26084293, 26368812, 26743478, 27008846, 27089234, 28369206, 29191620, 29371009, 30558566, 30601876, 33229459, 34031065, 35642348, 35835335, 37053535, 39564955	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	19936769, 20714830, 20805136, 21083380, 22653968, 22733540, 23640210, 23685997, 23778528, 24591764, 24842760, 25030020, 25280020, 25695059, 26113083, 26368812, 28223438, 28409567, 28486107, 29209985, 29490280, 30558566, 31320995		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CTD_human_DG	23432625		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26825879, 35512098	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25560761, 28860016		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	25933209		★☆☆☆☆ Found in Text Mining only
Mongolian Spot	Mongolian Spot	BEFREE	20865267, 21056896, 28796000, 30315589		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	25030020, 27498141		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	28084343	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19936769, 22550165, 22808163, 22977135, 23046118, 23887304, 24141786, 24274719, 24413085, 24563540, 25030020, 25534128, 25585249, 26113083, 26260725, 27057633, 27934878, 27974237, 28248732, 28779688, 28972303, 31173078, 31336681, 31533929, 31663661		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27919468	Associate	★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	26706010, 27268758		★☆☆☆☆ Found in Text Mining only
Nevi flammei, familial multiple	Nevi Flammei	ORPHANET_DG	23656586		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	28809862		★☆☆☆☆ Found in Text Mining only
Nevus of Ota	Nevus of Ota	BEFREE	26701415		★☆☆☆☆ Found in Text Mining only
Nevus of Ota	Nevus of Ota	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	20865267, 21056896, 21083380, 23599145, 28084343, 28409567, 28796000, 29332123, 30315589		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20562673		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	28295484		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28857268		★☆☆☆☆ Found in Text Mining only
Phakomatosis cesioflammea	Phakomatosis Cesioflammea	ORPHANET_DG	26778290		★☆☆☆☆ Found in Text Mining only
Phakomatosis cesioflammea	Phakomatosis Cesioflammea	Orphanet			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	20562673		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26308735	Associate	★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	BEFREE	23656586, 25374402, 28779688, 30537484, 31532024, 31692010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Port-Wine Stain	Phakomatosis pigmentovascularis	CTD_human_DG	23656586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Port-Wine Stain	Phakomatosis pigmentovascularis	ORPHANET_DG	23656586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Port-Wine Stain	Phakomatosis pigmentovascularis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Port-wine stain with oculocutaneous melanosis	Phakomatosis pigmentovascularis	BEFREE	26778290, 30920161		★☆☆☆☆ Found in Text Mining only
Port-wine stain with oculocutaneous melanosis	Phakomatosis pigmentovascularis	GENOMICS_ENGLAND_DG	26778290		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	25188413, 26802240, 31692010		★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	26802240		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36818471	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23315865		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25560761		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile angioma	Angioma	BEFREE	30601876, 31189994		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29977933	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Diseases, Vascular	Skin Diseases, Vascular	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31730812		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28350126, 31312661, 33494793	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	25374402, 28779688, 30537484, 31532024		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	23656586, 25188413, 25374402, 26564078, 26957145, 27268758, 27919468, 28454448, 28459499, 28779688, 28941044, 29476210, 30422215, 30537484, 30599880, 30853154, 30870248		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber Syndrome	Sturge-Weber Syndrome	ORPHANET_DG	23656586		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber Syndrome	Sturge-Weber Syndrome	UNIPROT_DG	23656586		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber Syndrome	Sturge-Weber Syndrome	CTD_human_DG	23656586		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber syndrome	Sturge-Weber Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber Syndrome	Sturge-Weber Syndrome	GENOMICS_ENGLAND_DG	26778290, 28126187		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sturge-Weber Syndrome	Sturge-Weber Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STUVE-WIEDEMANN SYNDROME	Stuve-Wiedemann syndrome	BEFREE	30599880		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	29709499, 31421023		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31527657		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	27895044		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32737449	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36818471	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	38537385	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	18719078, 19078957, 20424519, 20631239, 21072599, 21378004, 22236444, 22550165, 22653968, 23443802, 23456173, 23634288, 23685997, 23778528, 23887304, 24141786, 24413085, 24423917, 24697775, 24882515, 24882516, 24927141, 24937456, 25280020, 25304237, 25315378, 25653058, 25756553, 26113083, 26368812, 26683228, 27058448, 27123562, 27166257, 27265506, 27745836, 28223438, 28248732, 28257297, 28444874, 28486107, 28809862, 29206651, 29361821, 29490280, 30320917, 30352874, 30525429, 30558566, 31173078, 31320995, 31394807, 31533929, 31614358, 31671564, 31801083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	18719078, 19078957, 19654573, 19718445, 20424519, 21828154, 21945171, 22236444, 22253748, 22550165, 22653968, 22733540, 22977135, 23634288, 23778528, 23887304, 24423917, 24595385, 25030020, 25280020, 25315378, 25653058, 25764247, 25769001, 26059332, 26368812, 26683228, 26744134, 26769193, 26825879, 27058448, 27123562, 27745836, 28084343, 28444874, 29209985, 30008023, 30352874, 30571927, 30601876, 30760858, 31173078, 31227497, 32277165, 32415113, 33126538, 33229459, 33348918, 33588787, 34031065, 34533562, 34715131, 35352024, 35452684, 35512098, 36596361, 36626984, 37467061, 37923138, 38126027, 38175637	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	ORPHANET_DG	21083380, 23714557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CTD_human_DG	22733540, 26397223, 27089179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CLINVAR_DG	25157968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	37958718	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	37750536	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	28571101	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	30853154		★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	37658401	Associate	★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only