GNAQ (G protein subunit alpha q)

Gene

• Entrez ID: 2776
• Gene name: G protein subunit alpha q
• Gene symbol: GNAQ
• Synonyms: 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:0001508	Process	Action potential	IBA	21873635
GO:0001664	Function	G protein-coupled receptor binding	IBA	21873635
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IDA	15611106
GO:0005515	Function	Protein binding	IPI	18672896, 18772143, 22056876, 22750945, 23353685, 23994616, 27265506
GO:0005525	Function	GTP binding	IEA
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	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006469	Process	Negative regulation of protein kinase activity	IMP	20399743
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007202	Process	Activation of phospholipase C activity	TAS	8825633
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	IBA	21873635
GO:0007596	Process	Blood coagulation	TAS	9238049
GO:0007603	Process	Phototransduction, visible light	ISS
GO:0009649	Process	Entrainment of circadian clock	ISS
GO:0030168	Process	Platelet activation	TAS
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA	21873635
GO:0031826	Function	Type 2A serotonin receptor binding	IBA	21873635
GO:0031965	Component	Nuclear membrane	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0045202	Component	Synapse	IEA
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

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Cataract	CATARACT, MARNER TYPE	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Venous malformation	Congenital abnormality of vein	rs770780171
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	9687499
Congenital hemihypertrophy	Congenital hemihypertrophy	rs1575653629
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hemangioma	Hemangioma	rs119475040, rs121917766
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melanoma	melanoma, Cutaneous 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	19078957, 22733540, 18719078, 1328859, 22653968, 22253748, 22808163, 2549426, 23432625, 21083380
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Uveal melanoma	Uveal melanoma	rs1559588632	27089179, 23714557, 26397223, 22733540, 21083380, 25157968

Unknown
Disease name	Disease term	dbSNP ID	References
Anisometropia	Anisometropia
Arnold-chiari malformation	Arnold Chiari Malformation
Astigmatism	Astigmatism
Blood coagulation disorders	Blood Coagulation Disorders		9296496
Camptodactyly of fingers	Clinodactyly of the 5th finger
Capillary malformation	Capillary malformation (disorder)
Cerebral cortical atrophy	Cerebral cortical atrophy
Choroidal melanoma	Malignant melanoma of choroid		21083380, 23714557
Congenital arteriovenous malformation	Congenital arteriovenous malformation
Congenital cataract	Congenital lamellar cataract
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hemangioma	Congenital hemangioma		27058448
Conjunctival telangiectasis	Conjunctival telangiectasis
Dysphagia	Deglutition Disorders
Eczema	Eczema
Glaucoma, congenital	Hydrophthalmos
Glomerular hyalinosis	Hyalinosis, Segmental Glomerular		16267159
Glomerulosclerosis	Focal glomerulosclerosis		16267159
Hemangioma of choroid	Hemangioma of choroid
Hemianopsia	Hemianopsia
Hyperostosis	Hyperostosis
Inferior lens subluxation	Inferior lens subluxation
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye
Iris melanoma	Malignant melanoma of iris		21083380, 23714557
Ciliary body melanoma	Malignant melanoma of ciliary body
Meibomian cyst	Meibomian Cyst
Nevi flammei	Nevi flammei, familial multiple		23656586
Nevus of ota	Nevus of Ota
Ocular hypertension	Ocular Hypertension
Phakomatosis cesioflammea	Phakomatosis cesioflammea		26778290
Phakomatosis pigmentovascularis	Port-Wine Stain, Port-wine stain with oculocutaneous melanosis		23656586, 26778290
Skin diseases, vascular	Skin Diseases, Vascular
Speech disorders	Speech Disorders
Strabismus	Strabismus
Strawberry nevus of skin	Strawberry nevus of skin
Stroke	Cerebrovascular accident
Sturge-weber syndrome	Sturge-Weber Syndrome		23656586, 26778290, 28126187
Venous insufficiency	Venous Insufficiency
Visceral angiomatosis	Visceral angiomatosis