GNB5 (G protein subunit beta 5)

Gene

• Entrez ID: 10681
• Gene name: G protein subunit beta 5
• Gene symbol: GNB5
• Synonyms (NCBI Gene): GB5, HG2E, IDDCA, LADCI, LDMLS1, LDMLS2, gbeta5
• Disease Acronyms (UniProt): LDMLS1, LDMLS2
• Chromosome: 15
• Chromosome location: 15q21.2
• Summary: Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene enc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749597091	G>A,C,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs761399728	G>A	Pathogenic, not-provided, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs766004901	T>C	Pathogenic	Intron variant, genic upstream transcript variant
rs773902879	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886041054	C>T	Pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs886041055	C>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1085307675	ATCTT>-	Pathogenic, not-provided	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1261069673	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020117	hsa-miR-130b-3p	Sequencing	20371350
MIRT021914	hsa-miR-128-3p	Sequencing	20371350
MIRT025993	hsa-miR-148a-3p	Sequencing	20371350
MIRT028691	hsa-miR-27a-3p	Sequencing	20371350
MIRT028825	hsa-miR-26b-5p	Microarray	19088304
MIRT039346	hsa-miR-425-5p	CLASH	23622248
MIRT696205	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT696204	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT696203	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT696202	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT696201	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT696200	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT696199	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT696198	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT696197	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT696196	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT696195	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT696194	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT696193	hsa-miR-302e	HITS-CLIP	23313552
MIRT696192	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT696191	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT696190	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT696189	hsa-miR-520b	HITS-CLIP	23313552
MIRT696188	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT696187	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT696186	hsa-miR-520e	HITS-CLIP	23313552
MIRT696185	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT696184	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT696183	hsa-miR-520h	HITS-CLIP	23313552
MIRT696182	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT696181	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT696180	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT696179	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT696178	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT696177	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT696176	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT696175	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT696174	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT696173	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT696172	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT649747	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT649746	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT649744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT649745	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT649743	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT649742	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT649741	hsa-miR-1976	HITS-CLIP	23824327
MIRT649740	hsa-miR-4279	HITS-CLIP	23824327
MIRT519121	hsa-miR-1292-3p	PAR-CLIP	23446348
MIRT519120	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT696205	hsa-miR-106a-5p	HITS-CLIP	27418678
MIRT696204	hsa-miR-106b-5p	HITS-CLIP	27418678
MIRT696181	hsa-miR-1234-3p	HITS-CLIP	27418678
MIRT696179	hsa-miR-150-5p	HITS-CLIP	27418678
MIRT696203	hsa-miR-17-5p	HITS-CLIP	27418678
MIRT696182	hsa-miR-186-3p	HITS-CLIP	27418678
MIRT696202	hsa-miR-20a-5p	HITS-CLIP	27418678
MIRT696201	hsa-miR-20b-5p	HITS-CLIP	27418678
MIRT696197	hsa-miR-302a-3p	HITS-CLIP	27418678
MIRT696196	hsa-miR-302b-3p	HITS-CLIP	27418678
MIRT696195	hsa-miR-302c-3p	HITS-CLIP	27418678
MIRT696194	hsa-miR-302d-3p	HITS-CLIP	27418678
MIRT696193	hsa-miR-302e	HITS-CLIP	27418678
MIRT696192	hsa-miR-372-3p	HITS-CLIP	27418678
MIRT696191	hsa-miR-373-3p	HITS-CLIP	27418678
MIRT696176	hsa-miR-4707-3p	HITS-CLIP	27418678
MIRT696174	hsa-miR-4731-5p	HITS-CLIP	27418678
MIRT696172	hsa-miR-5089-5p	HITS-CLIP	27418678
MIRT696185	hsa-miR-512-3p	HITS-CLIP	27418678
MIRT696200	hsa-miR-519d-3p	HITS-CLIP	27418678
MIRT696190	hsa-miR-520a-3p	HITS-CLIP	27418678
MIRT696189	hsa-miR-520b	HITS-CLIP	27418678
MIRT696188	hsa-miR-520c-3p	HITS-CLIP	27418678
MIRT696187	hsa-miR-520d-3p	HITS-CLIP	27418678
MIRT696186	hsa-miR-520e	HITS-CLIP	27418678
MIRT696184	hsa-miR-520g-3p	HITS-CLIP	27418678
MIRT696183	hsa-miR-520h	HITS-CLIP	27418678
MIRT696199	hsa-miR-526b-3p	HITS-CLIP	27418678
MIRT696173	hsa-miR-5589-5p	HITS-CLIP	27418678
MIRT696178	hsa-miR-619-5p	HITS-CLIP	27418678
MIRT696177	hsa-miR-6506-5p	HITS-CLIP	27418678
MIRT696175	hsa-miR-6778-3p	HITS-CLIP	27418678
MIRT696180	hsa-miR-7107-5p	HITS-CLIP	27418678
MIRT696198	hsa-miR-93-5p	HITS-CLIP	27418678
MIRT696205	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT696204	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT696203	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT696202	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT696201	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT696200	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT696199	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT696198	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT696197	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT696196	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT696195	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT696194	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT696193	hsa-miR-302e	HITS-CLIP	23313552
MIRT696192	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT696191	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT696190	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT696189	hsa-miR-520b	HITS-CLIP	23313552
MIRT696188	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT696187	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT696186	hsa-miR-520e	HITS-CLIP	23313552
MIRT696185	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT696184	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT696183	hsa-miR-520h	HITS-CLIP	23313552
MIRT696182	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT696181	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT696180	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT696179	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT696178	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT696177	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT696176	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT696175	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT696174	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT696173	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT696172	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT649747	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT649746	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT649744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT649745	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT649743	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT649742	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT649741	hsa-miR-1976	HITS-CLIP	23824327
MIRT649740	hsa-miR-4279	HITS-CLIP	23824327
MIRT519121	hsa-miR-1292-3p	PAR-CLIP	23446348
MIRT519120	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT1024090	hsa-miR-106a	CLIP-seq
MIRT1024091	hsa-miR-106b	CLIP-seq
MIRT1024092	hsa-miR-128	CLIP-seq
MIRT1024093	hsa-miR-148a	CLIP-seq
MIRT1024094	hsa-miR-148b	CLIP-seq
MIRT1024095	hsa-miR-152	CLIP-seq
MIRT1024096	hsa-miR-17	CLIP-seq
MIRT1024097	hsa-miR-20a	CLIP-seq
MIRT1024098	hsa-miR-20b	CLIP-seq
MIRT1024099	hsa-miR-27a	CLIP-seq
MIRT1024100	hsa-miR-27b	CLIP-seq
MIRT1024101	hsa-miR-2861	CLIP-seq
MIRT1024102	hsa-miR-302a	CLIP-seq
MIRT1024103	hsa-miR-302b	CLIP-seq
MIRT1024104	hsa-miR-302c	CLIP-seq
MIRT1024105	hsa-miR-302d	CLIP-seq
MIRT1024106	hsa-miR-3065-3p	CLIP-seq
MIRT1024107	hsa-miR-3074-3p	CLIP-seq
MIRT1024108	hsa-miR-3125	CLIP-seq
MIRT1024109	hsa-miR-3163	CLIP-seq
MIRT1024110	hsa-miR-3180-5p	CLIP-seq
MIRT1024111	hsa-miR-3194-3p	CLIP-seq
MIRT1024112	hsa-miR-331-3p	CLIP-seq
MIRT1024113	hsa-miR-3609	CLIP-seq
MIRT1024114	hsa-miR-361-5p	CLIP-seq
MIRT1024115	hsa-miR-3646	CLIP-seq
MIRT1024116	hsa-miR-3647-3p	CLIP-seq
MIRT1024117	hsa-miR-3662	CLIP-seq
MIRT1024118	hsa-miR-372	CLIP-seq
MIRT1024119	hsa-miR-373	CLIP-seq
MIRT1024120	hsa-miR-3916	CLIP-seq
MIRT1024121	hsa-miR-4308	CLIP-seq
MIRT1024122	hsa-miR-4454	CLIP-seq
MIRT1024123	hsa-miR-4476	CLIP-seq
MIRT1024124	hsa-miR-4487	CLIP-seq
MIRT1024125	hsa-miR-4494	CLIP-seq
MIRT1024126	hsa-miR-455-3p	CLIP-seq
MIRT1024127	hsa-miR-4633-3p	CLIP-seq
MIRT1024128	hsa-miR-4645-5p	CLIP-seq
MIRT1024129	hsa-miR-4668-3p	CLIP-seq
MIRT1024130	hsa-miR-4673	CLIP-seq
MIRT1024131	hsa-miR-4700-3p	CLIP-seq
MIRT1024132	hsa-miR-4764-5p	CLIP-seq
MIRT1024133	hsa-miR-4766-5p	CLIP-seq
MIRT1024134	hsa-miR-4796-3p	CLIP-seq
MIRT1024135	hsa-miR-499a-5p	CLIP-seq
MIRT1024136	hsa-miR-5095	CLIP-seq
MIRT1024137	hsa-miR-518a-5p	CLIP-seq
MIRT1024138	hsa-miR-519d	CLIP-seq
MIRT1024139	hsa-miR-520a-5p	CLIP-seq
MIRT1024140	hsa-miR-525-5p	CLIP-seq
MIRT1024141	hsa-miR-527	CLIP-seq
MIRT1024142	hsa-miR-539	CLIP-seq
MIRT1024143	hsa-miR-548ah	CLIP-seq
MIRT1024144	hsa-miR-93	CLIP-seq
MIRT1024145	hsa-miR-1260	CLIP-seq
MIRT1024146	hsa-miR-1260b	CLIP-seq
MIRT1024147	hsa-miR-1304	CLIP-seq
MIRT1024148	hsa-miR-186	CLIP-seq
MIRT1024149	hsa-miR-188-3p	CLIP-seq
MIRT1024150	hsa-miR-219-1-3p	CLIP-seq
MIRT1024151	hsa-miR-2467-5p	CLIP-seq
MIRT1024152	hsa-miR-3156-3p	CLIP-seq
MIRT1024153	hsa-miR-3188	CLIP-seq
MIRT1024154	hsa-miR-3975	CLIP-seq
MIRT1024155	hsa-miR-4263	CLIP-seq
MIRT1024156	hsa-miR-4422	CLIP-seq
MIRT1024122	hsa-miR-4454	CLIP-seq
MIRT1024157	hsa-miR-4509	CLIP-seq
MIRT1024158	hsa-miR-4744	CLIP-seq
MIRT1024159	hsa-miR-4799-5p	CLIP-seq
MIRT1024160	hsa-miR-485-5p	CLIP-seq
MIRT1024161	hsa-miR-5096	CLIP-seq
MIRT1024162	hsa-miR-571	CLIP-seq
MIRT1024163	hsa-miR-576-5p	CLIP-seq
MIRT1024164	hsa-miR-581	CLIP-seq
MIRT2003671	hsa-miR-1270	CLIP-seq
MIRT2003672	hsa-miR-1279	CLIP-seq
MIRT1024092	hsa-miR-128	CLIP-seq
MIRT2003673	hsa-miR-129-5p	CLIP-seq
MIRT2003674	hsa-miR-1299	CLIP-seq
MIRT2003675	hsa-miR-139-3p	CLIP-seq
MIRT2003676	hsa-miR-2276	CLIP-seq
MIRT2003677	hsa-miR-3149	CLIP-seq
MIRT1024110	hsa-miR-3180-5p	CLIP-seq
MIRT2003678	hsa-miR-3199	CLIP-seq
MIRT2003679	hsa-miR-3606	CLIP-seq
MIRT2003680	hsa-miR-3661	CLIP-seq
MIRT2003681	hsa-miR-3940-5p	CLIP-seq
MIRT2003682	hsa-miR-411	CLIP-seq
MIRT2003683	hsa-miR-4257	CLIP-seq
MIRT2003684	hsa-miR-4258	CLIP-seq
MIRT2003685	hsa-miR-4267	CLIP-seq
MIRT2003686	hsa-miR-4268	CLIP-seq
MIRT2003687	hsa-miR-4280	CLIP-seq
MIRT2003688	hsa-miR-4284	CLIP-seq
MIRT2003689	hsa-miR-4315	CLIP-seq
MIRT2003690	hsa-miR-4328	CLIP-seq
MIRT2003691	hsa-miR-4438	CLIP-seq
MIRT2003692	hsa-miR-4507	CLIP-seq
MIRT2003693	hsa-miR-4531	CLIP-seq
MIRT2003694	hsa-miR-4532	CLIP-seq
MIRT2003695	hsa-miR-4635	CLIP-seq
MIRT2003696	hsa-miR-4638-5p	CLIP-seq
MIRT2003697	hsa-miR-4645-3p	CLIP-seq
MIRT2003698	hsa-miR-4678	CLIP-seq
MIRT2003699	hsa-miR-4687-3p	CLIP-seq
MIRT2003700	hsa-miR-4735-5p	CLIP-seq
MIRT2003701	hsa-miR-4775	CLIP-seq
MIRT2003702	hsa-miR-4790-5p	CLIP-seq
MIRT2003703	hsa-miR-493	CLIP-seq
MIRT1024136	hsa-miR-5095	CLIP-seq
MIRT1024161	hsa-miR-5096	CLIP-seq
MIRT1024139	hsa-miR-520a-5p	CLIP-seq
MIRT1024140	hsa-miR-525-5p	CLIP-seq
MIRT2003704	hsa-miR-542-3p	CLIP-seq
MIRT2003705	hsa-miR-590-3p	CLIP-seq
MIRT2003706	hsa-miR-618	CLIP-seq
MIRT2003707	hsa-miR-620	CLIP-seq
MIRT2003708	hsa-miR-630	CLIP-seq
MIRT2003709	hsa-miR-631	CLIP-seq
MIRT2003710	hsa-miR-633	CLIP-seq
MIRT2003711	hsa-miR-720	CLIP-seq
MIRT2003712	hsa-miR-766	CLIP-seq
MIRT2003713	hsa-miR-875-3p	CLIP-seq
MIRT2003714	hsa-miR-889	CLIP-seq
MIRT2003715	hsa-miR-921	CLIP-seq
MIRT1024090	hsa-miR-106a	CLIP-seq
MIRT1024091	hsa-miR-106b	CLIP-seq
MIRT2236477	hsa-miR-1234	CLIP-seq
MIRT1024096	hsa-miR-17	CLIP-seq
MIRT1024097	hsa-miR-20a	CLIP-seq
MIRT1024098	hsa-miR-20b	CLIP-seq
MIRT1024102	hsa-miR-302a	CLIP-seq
MIRT1024103	hsa-miR-302b	CLIP-seq
MIRT1024104	hsa-miR-302c	CLIP-seq
MIRT1024105	hsa-miR-302d	CLIP-seq
MIRT2003678	hsa-miR-3199	CLIP-seq
MIRT1024118	hsa-miR-372	CLIP-seq
MIRT1024119	hsa-miR-373	CLIP-seq
MIRT2003684	hsa-miR-4258	CLIP-seq
MIRT2003688	hsa-miR-4284	CLIP-seq
MIRT2003691	hsa-miR-4438	CLIP-seq
MIRT2003700	hsa-miR-4735-5p	CLIP-seq
MIRT2003701	hsa-miR-4775	CLIP-seq
MIRT1024136	hsa-miR-5095	CLIP-seq
MIRT1024138	hsa-miR-519d	CLIP-seq
MIRT2003705	hsa-miR-590-3p	CLIP-seq
MIRT1024144	hsa-miR-93	CLIP-seq
MIRT1024101	hsa-miR-2861	CLIP-seq
MIRT2003673	hsa-miR-129-5p	CLIP-seq
MIRT2003675	hsa-miR-139-3p	CLIP-seq
MIRT2003677	hsa-miR-3149	CLIP-seq
MIRT2003682	hsa-miR-411	CLIP-seq
MIRT2450448	hsa-miR-4294	CLIP-seq
MIRT2003689	hsa-miR-4315	CLIP-seq
MIRT2003700	hsa-miR-4735-5p	CLIP-seq
MIRT2003701	hsa-miR-4775	CLIP-seq
MIRT2003702	hsa-miR-4790-5p	CLIP-seq
MIRT2003705	hsa-miR-590-3p	CLIP-seq
MIRT2003711	hsa-miR-720	CLIP-seq
MIRT2540182	hsa-miR-1253	CLIP-seq
MIRT2540183	hsa-miR-1254	CLIP-seq
MIRT2003673	hsa-miR-129-5p	CLIP-seq
MIRT2003674	hsa-miR-1299	CLIP-seq
MIRT2540184	hsa-miR-135a	CLIP-seq
MIRT2540185	hsa-miR-135b	CLIP-seq
MIRT1024148	hsa-miR-186	CLIP-seq
MIRT2540186	hsa-miR-1910	CLIP-seq
MIRT2003676	hsa-miR-2276	CLIP-seq
MIRT1024101	hsa-miR-2861	CLIP-seq
MIRT2540187	hsa-miR-3116	CLIP-seq
MIRT2003677	hsa-miR-3149	CLIP-seq
MIRT2540188	hsa-miR-3150b-3p	CLIP-seq
MIRT1024110	hsa-miR-3180-5p	CLIP-seq
MIRT1024112	hsa-miR-331-3p	CLIP-seq
MIRT2540189	hsa-miR-3613-3p	CLIP-seq
MIRT2540190	hsa-miR-3663-5p	CLIP-seq
MIRT2540191	hsa-miR-3918	CLIP-seq
MIRT2540192	hsa-miR-3921	CLIP-seq
MIRT2540193	hsa-miR-3938	CLIP-seq
MIRT2003682	hsa-miR-411	CLIP-seq
MIRT2540194	hsa-miR-4254	CLIP-seq
MIRT2003683	hsa-miR-4257	CLIP-seq
MIRT2003684	hsa-miR-4258	CLIP-seq
MIRT1024155	hsa-miR-4263	CLIP-seq
MIRT2003685	hsa-miR-4267	CLIP-seq
MIRT2003687	hsa-miR-4280	CLIP-seq
MIRT2003688	hsa-miR-4284	CLIP-seq
MIRT1024121	hsa-miR-4308	CLIP-seq
MIRT2540195	hsa-miR-4421	CLIP-seq
MIRT1024156	hsa-miR-4422	CLIP-seq
MIRT1024157	hsa-miR-4509	CLIP-seq
MIRT2540196	hsa-miR-4512	CLIP-seq
MIRT2003694	hsa-miR-4532	CLIP-seq
MIRT2003696	hsa-miR-4638-5p	CLIP-seq
MIRT2003697	hsa-miR-4645-3p	CLIP-seq
MIRT2540197	hsa-miR-4649-3p	CLIP-seq
MIRT2540198	hsa-miR-4653-5p	CLIP-seq
MIRT2003699	hsa-miR-4687-3p	CLIP-seq
MIRT2540199	hsa-miR-4689	CLIP-seq
MIRT1024131	hsa-miR-4700-3p	CLIP-seq
MIRT2540200	hsa-miR-4704-5p	CLIP-seq
MIRT2003700	hsa-miR-4735-5p	CLIP-seq
MIRT1024158	hsa-miR-4744	CLIP-seq
MIRT1024132	hsa-miR-4764-5p	CLIP-seq
MIRT2003701	hsa-miR-4775	CLIP-seq
MIRT2540201	hsa-miR-4784	CLIP-seq
MIRT1024159	hsa-miR-4799-5p	CLIP-seq
MIRT1024136	hsa-miR-5095	CLIP-seq
MIRT1024139	hsa-miR-520a-5p	CLIP-seq
MIRT2540202	hsa-miR-520d-5p	CLIP-seq
MIRT2540203	hsa-miR-524-5p	CLIP-seq
MIRT1024140	hsa-miR-525-5p	CLIP-seq
MIRT2003704	hsa-miR-542-3p	CLIP-seq
MIRT1024163	hsa-miR-576-5p	CLIP-seq
MIRT2003705	hsa-miR-590-3p	CLIP-seq
MIRT2540204	hsa-miR-600	CLIP-seq
MIRT2540205	hsa-miR-7	CLIP-seq
MIRT2003712	hsa-miR-766	CLIP-seq
MIRT2003713	hsa-miR-875-3p	CLIP-seq
MIRT2540182	hsa-miR-1253	CLIP-seq
MIRT2003673	hsa-miR-129-5p	CLIP-seq
MIRT2003674	hsa-miR-1299	CLIP-seq
MIRT2540184	hsa-miR-135a	CLIP-seq
MIRT2540185	hsa-miR-135b	CLIP-seq
MIRT1024148	hsa-miR-186	CLIP-seq
MIRT2540186	hsa-miR-1910	CLIP-seq
MIRT2003676	hsa-miR-2276	CLIP-seq
MIRT1024101	hsa-miR-2861	CLIP-seq
MIRT2003677	hsa-miR-3149	CLIP-seq
MIRT2540188	hsa-miR-3150b-3p	CLIP-seq
MIRT1024110	hsa-miR-3180-5p	CLIP-seq
MIRT1024112	hsa-miR-331-3p	CLIP-seq
MIRT2540189	hsa-miR-3613-3p	CLIP-seq
MIRT2540190	hsa-miR-3663-5p	CLIP-seq
MIRT2540192	hsa-miR-3921	CLIP-seq
MIRT2540193	hsa-miR-3938	CLIP-seq
MIRT2003682	hsa-miR-411	CLIP-seq
MIRT2003683	hsa-miR-4257	CLIP-seq
MIRT2003684	hsa-miR-4258	CLIP-seq
MIRT1024155	hsa-miR-4263	CLIP-seq
MIRT2003685	hsa-miR-4267	CLIP-seq
MIRT2003687	hsa-miR-4280	CLIP-seq
MIRT2003688	hsa-miR-4284	CLIP-seq
MIRT1024121	hsa-miR-4308	CLIP-seq
MIRT2003690	hsa-miR-4328	CLIP-seq
MIRT2540195	hsa-miR-4421	CLIP-seq
MIRT1024156	hsa-miR-4422	CLIP-seq
MIRT1024157	hsa-miR-4509	CLIP-seq
MIRT2003694	hsa-miR-4532	CLIP-seq
MIRT2003696	hsa-miR-4638-5p	CLIP-seq
MIRT2003697	hsa-miR-4645-3p	CLIP-seq
MIRT2540197	hsa-miR-4649-3p	CLIP-seq
MIRT2540198	hsa-miR-4653-5p	CLIP-seq
MIRT2003699	hsa-miR-4687-3p	CLIP-seq
MIRT2540199	hsa-miR-4689	CLIP-seq
MIRT1024131	hsa-miR-4700-3p	CLIP-seq
MIRT2540200	hsa-miR-4704-5p	CLIP-seq
MIRT2003700	hsa-miR-4735-5p	CLIP-seq
MIRT1024158	hsa-miR-4744	CLIP-seq
MIRT1024132	hsa-miR-4764-5p	CLIP-seq
MIRT2003701	hsa-miR-4775	CLIP-seq
MIRT2540201	hsa-miR-4784	CLIP-seq
MIRT1024159	hsa-miR-4799-5p	CLIP-seq
MIRT1024136	hsa-miR-5095	CLIP-seq
MIRT1024139	hsa-miR-520a-5p	CLIP-seq
MIRT2540202	hsa-miR-520d-5p	CLIP-seq
MIRT2540203	hsa-miR-524-5p	CLIP-seq
MIRT1024140	hsa-miR-525-5p	CLIP-seq
MIRT2003704	hsa-miR-542-3p	CLIP-seq
MIRT1024163	hsa-miR-576-5p	CLIP-seq
MIRT2003705	hsa-miR-590-3p	CLIP-seq
MIRT2540204	hsa-miR-600	CLIP-seq
MIRT2003710	hsa-miR-633	CLIP-seq
MIRT2540205	hsa-miR-7	CLIP-seq
MIRT2003712	hsa-miR-766	CLIP-seq
MIRT2003713	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	NAS	9606987
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IDA	10521509
GO:0005096	Function	GTPase activator activity	IDA	27677260
GO:0005515	Function	Protein binding	IPI	12606627, 19376773
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA	10521509
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA	21873635
GO:0006457	Process	Protein folding	TAS
GO:0007165	Process	Signal transduction	NAS	9606987
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007212	Process	Dopamine receptor signaling pathway	IBA	21873635
GO:0007212	Process	Dopamine receptor signaling pathway	IDA	27677260
GO:0031682	Function	G-protein gamma-subunit binding	IBA	21873635
GO:0031682	Function	G-protein gamma-subunit binding	IPI	12606627
GO:0043547	Process	Positive regulation of GTPase activity	IBA	21873635
GO:0043547	Process	Positive regulation of GTPase activity	IDA	10521509
GO:0051087	Function	Chaperone binding	IPI	19376773
GO:0098793	Component	Presynapse	IEA
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	IDA	11007869, 12606627
GO:1902773	Component	GTPase activator complex	TAS	27677260

Other IDs

• MIM: 604447
• HGNC: 4401
• e!Ensembl: ENSG00000069966

Protein

• UniProt ID: O14775
• Protein name: Guanine nucleotide-binding protein subunit beta-5 (Gbeta5) (Transducin beta chain 5)
• Protein function: Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating
• PDB: 7EWP, 7EWR, 8SG8, 8SG9, 8SGC, 8SGL, 8SH9, 8SHA, 8SHD, 8SHE, 8SHF, 8SHG, 8SHL, 8SHN, 8SHO, 8SHP, 8SHQ, 8SHT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	95 → 133	WD domain, G-beta repeat	Repeat
  PF00400	WD40	227 → 267	WD domain, G-beta repeat	Repeat
  PF00400	WD40	271 → 309	WD domain, G-beta repeat	Repeat
  PF00400	WD40	320 → 353	WD domain, G-beta repeat	Repeat
  PF00400	WD40	357 → 394	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9606987}.
• Sequence:

  MCDQTFLVNVFGSCDKCFKQRALRPVFKKSQQLSYCSTCAEIMATEGLHENETLASLKSE
  AESLKGKLEEERAKLHDVELHQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRI
  VSSSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGCAIACGGLDNKCSVYPLTFDK
  NENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADV
  LCLDLAPSETGNTFVSGGCDKKAMVWDMRSGQCVQAFETHESDINSVRYYPSGDAFASGS
  DDATCRLYDLRADREVAIYSKESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRV
  SILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA

• Sequence length: 395

Pathways

KEGG:

Ras signaling pathway
Chemokine signaling pathway
Hormone signaling
PI3K-Akt signaling pathway
Apelin signaling pathway
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Relaxin signaling pathway
Morphine addiction
Alcoholism
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Activation of G protein gated Potassium channels
G-protein activation
Inactivation, recovery and regulation of the phototransduction cascade
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
ADP signalling through P2Y purinoceptor 12
G beta:gamma signalling through PI3Kgamma
Prostacyclin signalling through prostacyclin receptor
Adrenaline,noradrenaline inhibits insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G alpha (12/13) signalling events
G beta:gamma signalling through PLC beta
G alpha (s) signalling events
ADP signalling through P2Y purinoceptor 1
G alpha (i) signalling events
G alpha (z) signalling events
Glucagon-type ligand receptors
Thromboxane signalling through TP receptor
Vasopressin regulates renal water homeostasis via Aquaporins
Thrombin signalling through proteinase activated receptors (PARs)
Presynaptic function of Kainate receptors
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
G beta:gamma signalling through BTK
G beta:gamma signalling through CDC42
Extra-nuclear estrogen signaling
ADORA2B mediated anti-inflammatory cytokines production
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208	25944804
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs63750245, rs193922372, rs63750393, rs63749932, rs193922375, rs193922376, rs193922343, rs397514684, rs397515875, rs267608094, rs587779204, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs587779215, rs587779216, rs587779219, rs63749874, rs267608076, rs587779220, rs267608050, rs63750735, rs63750564, rs71539659, rs267608082, rs63751167, rs267608057, rs587779227, rs267608068, rs63750075, rs587779228, rs63751419, rs587779231, rs587779232, rs267608058, rs63751442, rs63751127, rs63750647, rs63750138, rs587779235, rs267608065, rs63751321, rs587779241, rs587779243, rs63750904, rs63751017, rs587779246, rs267608063, rs63750140, rs63750940, rs63750111, rs587779250, rs63750258, rs63750563, rs267608073, rs63751407, rs267608059, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs63749821, rs63749843, rs63750617, rs267608078, rs587779259, rs267608092, rs587779260, rs267608086, rs1553331676, rs63750356, rs587779263, rs267608098, rs587779264, rs587779267, rs63750194, rs63751327, rs587779269, rs63751328, rs587779274, rs587779279, rs267608111, rs1553332996, rs587779284, rs63749942, rs587779288, rs63751058, rs63750554, rs267608114, rs267608118, rs63750139, rs63751319, rs267608128, rs587779295, rs267608127, rs267608126, rs63750767, rs267608120, rs587779299, rs267608121, rs587779301, rs267608131, rs267608122, rs63749873, rs63751077, rs1800937, rs587779315, rs587779318, rs63750019, rs267608066, rs63749980, rs63750552, rs1553412283, rs146816935, rs587779001, rs63750677, rs63750339, rs63751609, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs63750580, rs587778888, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs267607713, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs63750850, rs267607867, rs267607869, rs63751632, rs267607871, rs587778956, rs63749792, rs267607875, rs63750610, rs281864938, rs63751465, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs63751662, rs267607884, rs267607883, rs63750639, rs63750206, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63750641, rs63751421, rs63750266, rs111052004, rs267607726, rs63750453, rs267607734, rs267607735, rs63751665, rs267607732, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs63750866, rs63750865, rs587779010, rs587779012, rs63750057, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607750, rs267607749, rs267607753, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs63750648, rs63751480, rs267607772, rs587779024, rs267607768, rs63751653, rs587779027, rs267607767, rs63750581, rs63750706, rs63750385, rs587779031, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs63750822, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607789, rs267607790, rs267607791, rs267607786, rs267607795, rs267607794, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs587779063, rs63750778, rs63751004, rs63751147, rs63751027, rs63750396, rs587779067, rs267607940, rs267607943, rs63751617, rs63750558, rs63750267, rs63749849, rs587779075, rs63750302, rs63750611, rs63750984, rs63750586, rs63751412, rs63751413, rs587779076, rs63751142, rs63750086, rs63750006, rs267607950, rs267607949, rs63751693, rs587779083, rs587779084, rs63750807, rs63749920, rs267607954, rs267607957, rs587779087, rs63750384, rs63750615, rs63750068, rs63749947, rs1114167806, rs63750936, rs267607962, rs587779097, rs63750780, rs63749930, rs63750224, rs63750094, rs63750337, rs63751656, rs267607969, rs267607972, rs63750597, rs267607970, rs267607971, rs587779101, rs587779103, rs63751149, rs63750474, rs587779105, rs63751411, rs587779108, rs267607976, rs63751140, rs587779110, rs267607977, rs63750200, rs63751236, rs267607985, rs63750951, rs587779112, rs63750493, rs267607984, rs63750312, rs63750508, rs63750280, rs63750160, rs63750203, rs63750960, rs63750893, rs63751317, rs587779119, rs267607986, rs267607987, rs587779125, rs267607988, rs267607990, rs63751640, rs63751123, rs587779129, rs587779131, rs267607995, rs63750199, rs587779133, rs63749993, rs63750232, rs63751432, rs267607994, rs63750961, rs63750398, rs587779136, rs267607915, rs267607914, rs267607917, rs587779138, rs63750636, rs63751453, rs587779139, rs63750572, rs267608002, rs267608006, rs267607979, rs267608001, rs63751155, rs63751477, rs63750042, rs63749854, rs587779143, rs63751105, rs63750346, rs63749848, rs63750618, rs63750149, rs63750233, rs63750803, rs63750463, rs63749983, rs63751018, rs63749917, rs267608010, rs267608012, rs63751621, rs63750623, rs63751117, rs63751447, rs587779148, rs63750857, rs587779149, rs63749830, rs63750849, rs63750291, rs63751618, rs267608019, rs267608017, rs63751624, rs267608020, rs587779153, rs63751469, rs267607920, rs63750084, rs63750808, rs63751007, rs63751429, rs63750970, rs63751099, rs63750318, rs587779157, rs63750501, rs63750614, rs587779159, rs63750458, rs267607924, rs267607925, rs63750924, rs63750704, rs63750408, rs63750910, rs63751426, rs63750624, rs63750214, rs63750582, rs587779163, rs63750843, rs63750933, rs63750070, rs587779164, rs63750382, rs63750551, rs63751444, rs63750088, rs587779165, rs63751326, rs63750682, rs63751110, rs63751136, rs587779167, rs63750574, rs63749984, rs63751622, rs63751274, rs267607689, rs587779169, rs267607930, rs267607929, rs63751602, rs587779170, rs63749897, rs63750426, rs281864944, rs63750488, rs63749832, rs63750347, rs267607934, rs587779185, rs63750091, rs63750276, rs63750097, rs587779189, rs587779190, rs587779191, rs63750934, rs63750885, rs63749915, rs63749914, rs63750640, rs587779193, rs587779195, rs12476364, rs587779198, rs63750502, rs63751044, rs63750630, rs63750468, rs63750828, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs587779333, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608147, rs587779344, rs267608149, rs267608151, rs267608154, rs63750246, rs267608153, rs200640585, rs143277125, rs587779347, rs398123231, rs398123232, rs587779778, rs587779254, rs587779914, rs200492211, rs587779936, rs587779941, rs587779950, rs587779964, rs587779979, rs587780059, rs188006077, rs587780062, rs587780064, rs587780538, rs587778618, rs587780683, rs587780724, rs63751427, rs587781317, rs63750119, rs587781339, rs587781372, rs587781395, rs267608064, rs587781462, rs63750737, rs587781544, rs587781554, rs587781626, rs587781691, rs587781716, rs587782074, rs587782111, rs587782277, rs587782326, rs587782336, rs587782561, rs587782593, rs141577476, rs587782659, rs587782704, rs63751604, rs587782710, rs587782712, rs267607712, rs587782787, rs587783056, rs373885654, rs730881775, rs587779166, rs730881774, rs730881816, rs730881825, rs730881827, rs730881829, rs730881830, rs730881734, rs41542214, rs786202037, rs786203424, rs786203604, rs786201066, rs786203036, rs786201590, rs786203704, rs786201042, rs786203597, rs587782281, rs786202848, rs786201049, rs750528093, rs786202363, rs786202108, rs267608083, rs786201050, rs374230313, rs786203924, rs786202842, rs786203331, rs786201084, rs1553333738, rs267607716, rs786202328, rs786203456, rs786201990, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs763308607, rs786204082, rs786204144, rs786204050, rs786204252, rs786204104, rs786204321, rs869320619, rs863224481, rs863224833, rs863224473, rs863224829, rs863224474, rs863224475, rs863224476, rs863224480, rs63750549, rs863224498, rs863224497, rs863224496, rs267608159, rs863224450, rs863224676, rs863225397, rs863225386, rs863225387, rs267607953, rs863225389, rs863225390, rs370970617, rs759263820, rs863225392, rs863225394, rs863225395, rs863225402, rs863225421, rs863225398, rs863225399, rs863225400, rs863225403, rs863225404, rs863225406, rs587782562, rs863225408, rs863225409, rs863225412, rs863225416, rs863225418, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs864622041, rs63750059, rs1553350680, rs864622183, rs63749991, rs864622340, rs63750330, rs864622436, rs864622121, rs864622435, rs864622153, rs864622257, rs864622585, rs864622607, rs786203968, rs267607744, rs267607823, rs267607832, rs864622457, rs864622600, rs3209663, rs869312768, rs869312769, rs869312770, rs869312767, rs759151952, rs876657701, rs876661033, rs876661205, rs876661025, rs876661193, rs63749919, rs876661073, rs876661222, rs876661171, rs876661159, rs63749818, rs876658915, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876660480, rs876658996, rs876660655, rs876658918, rs876658223, rs876660711, rs876658211, rs876660095, rs876658296, rs876660549, rs876658881, rs876660630, rs876659189, rs876660283, rs876660943, rs866771359, rs876658817, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878853815, rs878853824, rs878853802, rs878853809, rs267608041, rs878853702, rs878853709, rs878853711, rs878853718, rs878853721, rs878853729, rs878853736, rs878853739, rs878853742, rs878853745, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs878854037, rs878854060, rs878854059, rs763872353, rs879254025, rs879254104, rs879253899, rs879254234, rs1553640314, rs886039424, rs886039646, rs886039615, rs886044911, rs63750058, rs1057517551, rs1057517541, rs756843954, rs1057517764, rs1057517763, rs1057517801, rs769742496, rs1057520605, rs1057520735, rs1057524433, rs786202083, rs1553350787, rs1060502035, rs267607694, rs1060502039, rs1060502014, rs1060502038, rs1060502032, rs1060502001, rs1060502000, rs1060502885, rs1060502941, rs1060502029, rs775464903, rs1064792951, rs1553413673, rs1060502918, rs1060502876, rs1060502888, rs1060502932, rs1060502901, rs1060502891, rs1060502940, rs1060502937, rs1060502926, rs1060502886, rs1060501993, rs1060501989, rs1060502890, rs1060502027, rs1060502023, rs1060501991, rs1060502903, rs1553333432, rs1060502875, rs1060502946, rs1060502882, rs1060502881, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064794155, rs1064794809, rs1553352505, rs267607939, rs876658187, rs1064793561, rs1064795653, rs1064795329, rs267608011, rs1064794075, rs1553411392, rs1023534466, rs1553412609, rs1064794388, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794943, rs876660853, rs1064793489, rs1064795629, rs1064794384, rs1553333072, rs1553333078, rs1553333127, rs1553333500, rs1064793895, rs760190301, rs1064795341, rs1064793607, rs587778968, rs1064795441, rs1064794612, rs1064795515, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1064794173, rs1064794152, rs1085308057, rs1114167435, rs1114167883, rs1114167831, rs1114167877, rs1114167855, rs587782537, rs1114167814, rs1114167848, rs1114167845, rs979212552, rs1114167809, rs1114167858, rs1553356720, rs1114167833, rs1114167852, rs1114167835, rs1114167854, rs1114167815, rs267607982, rs1114167844, rs1114167805, rs730881762, rs1114167857, rs1114167832, rs1114167826, rs1114167841, rs1114167828, rs1114167818, rs1114167719, rs1114167776, rs1114167689, rs1114167728, rs1114167692, rs1114167725, rs1114167704, rs1114167696, rs1114167748, rs1114167763, rs1114167804, rs1114167731, rs1114167801, rs753796271, rs1114167736, rs1114167756, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167702, rs1114167765, rs587780670, rs1114167766, rs777159874, rs587782638, rs1114167747, rs1114167709, rs1114167694, rs786204048, rs1114167771, rs1114167794, rs1114167714, rs765411990, rs587782862, rs1114167773, rs1114167724, rs1114167707, rs1114167782, rs1114167793, rs1114167767, rs766905993, rs1114167723, rs1114167755, rs752404604, rs1114167706, rs1114167717, rs1114167783, rs1114167760, rs1553333599, rs1553333615, rs1553333644, rs1114167790, rs587779297, rs1553351549, rs753075410, rs63751271, rs371776176, rs63750689, rs1553369164, rs202145681, rs1553370310, rs1230083633, rs1553412966, rs1553413710, rs1348956744, rs1553331290, rs1553333421, rs1553333598, rs1416452389, rs1553333707, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1554292880, rs988423880, rs1553353114, rs63751119, rs1553647995, rs1553663750, rs1458321358, rs730881919, rs1553413178, rs63750443, rs63751596, rs1554309086, rs1553348794, rs1553348882, rs1553348898, rs1553348901, rs1553370371, rs1553365799, rs1553370431, rs1553366510, rs1553408158, rs1553366680, rs1553370404, rs1553411419, rs1553408136, rs1553412397, rs869040863, rs1553348842, rs1553348904, rs1553413599, rs1553413655, rs1553413732, rs1553414022, rs767021188, rs1553350966, rs1553412409, rs796532309, rs587779064, rs1553365711, rs1553333017, rs1553412649, rs1553333175, rs1553333301, rs1553333605, rs1553369100, rs1553369131, rs1553331722, rs1324100572, rs1553332776, rs761037236, rs1553412755, rs1553333438, rs1553333449, rs1553412835, rs1553412735, rs1553413424, rs1553414131, rs1553331337, rs1553332297, rs773262801, rs1553333185, rs1553331454, rs1553332151, rs1553333530, rs1553333633, rs587779285, rs1553333310, rs1553333321, rs1553333497, rs1553646681, rs1553647894, rs1553648195, rs1553653158, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs1554298087, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1553348896, rs1553368675, rs1203462814, rs1553369665, rs1553350721, rs1553369812, rs1553361261, rs1553370443, rs1553408388, rs1553413717, rs63749973, rs1553412064, rs1553408467, rs267608062, rs765873566, rs730881815, rs1553414578, rs1553331665, rs1553331366, rs1553332166, rs1553413663, rs1553332622, rs1553333164, rs63751137, rs1553642777, rs1553648068, rs1553332733, rs1553644123, rs1553648149, rs1302248679, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs151244108, rs1553412129, rs1054003194, rs1553412824, rs1553413253, rs1553332671, rs1553333168, rs1553333700, rs63751101, rs1553646764, rs1554300689, rs1554297877, rs1437858319, rs1432436629, rs1553648225, rs1553352462, rs1553332772, rs1553648201, rs1553333635, rs1554297125, rs753256070, rs1553414092, rs587779923, rs1554297962, rs1553361162, rs1554294448, rs1553412495, rs1253275403, rs1553350167, rs267607937, rs1553361231, rs730881755, rs1553408306, rs1553365719, rs1553370366, rs1553370397, rs1553412441, rs1553412960, rs1553411391, rs770110491, rs1553350466, rs1553350758, rs1553413116, rs1553413294, rs1553413074, rs1553361289, rs1553413640, rs1553413784, rs1553414488, rs1553331242, rs1553410300, rs1553414498, rs1553332312, rs1553412502, rs1114167705, rs1553331659, rs1553332768, rs1553414102, rs1553414395, rs1553414519, rs1553331228, rs1553333674, rs1553638868, rs1553663981, rs1553644277, rs1553665866, rs1554297082, rs1554297564, rs1394474494, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1553356605, rs1553356700, rs1553369034, rs1553370435, rs1553413305, rs1553331304, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1553658104, rs1553350250, rs1553410230, rs1554304745, rs1554298756, rs1553648220, rs1559543768, rs745487791, rs1558438591, rs1558508067, rs1558508343, rs1558645195, rs1558658971, rs1558661368, rs1558663954, rs1558390582, rs1558392228, rs1558461615, rs1558466434, rs1558519611, rs1558521949, rs1558644886, rs587782101, rs1558661380, rs1558662873, rs1558392033, rs1558394093, rs1559544064, rs63750584, rs1558459096, rs1060501994, rs63751667, rs878853704, rs1558665297, rs1558387361, rs1558393006, rs1558394104, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs1558451119, rs1558459882, rs1558478567, rs1562605623, rs1562614946, rs781078805, rs1558644683, rs1558658980, rs1558659056, rs1558659699, rs1558667222, rs1558668156, rs1558668258, rs1558393070, rs1558394336, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1060500702, rs1559539489, rs1559553501, rs1562616355, rs1562644987, rs764171734, rs1562711587, rs1562598658, rs1562604682, rs1562664845, rs1562678257, rs1558666177, rs1562633172, rs1559558071, rs1261282733, rs63750832, rs587778978, rs1064795063, rs1558511051, rs63751097, rs765763906, rs1562626070, rs1562671039, rs1558518588, rs1558461683, rs63751115, rs1558644995, rs1558659265, rs1558660612, rs1559521039, rs1559574795, rs1562626011, rs1562636427, rs1559578422, rs772491283, rs1573424223, rs730881784, rs1573446614, rs1573451108, rs1558464008, rs1573484655, rs1573566217, rs1573566488, rs1573567212, rs63750078, rs1573567340, rs1573567537, rs1573567630, rs1573569948, rs1573570621, rs1573574086, rs1573578423, rs1573578439, rs1573579206, rs1572698011, rs1572708636, rs1473648816, rs1276159036, rs1572716371, rs1572719776, rs1572719974, rs1572720016, rs1572720562, rs1572720704, rs778555956, rs1553412720, rs1572723270, rs1572723640, rs587779221, rs1572725436, rs1572725803, rs1572726309, rs1572726468, rs63750985, rs1572727440, rs1572727797, rs1572729033, rs367758473, rs587779253, rs1572730002, rs1572730065, rs1315445200, rs1572735072, rs1572735943, rs1572738865, rs1572745157, rs754469538, rs1572746365, rs1572747837, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63750740, rs1386031101, rs1575640892, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs267608035, rs1572716545, rs1572739097, rs1575628928, rs746306598, rs1572747278, rs1572747685, rs1583374709, rs1572708580, rs1572736122, rs1575414321, rs1573437173, rs1573456772, rs1583316404, rs1583363851, rs1572727176, rs1573423412, rs1573440880, rs1573442100, rs369670665, rs1573451078, rs1573547745, rs1573548065, rs1573553636, rs1573567132, rs63750234, rs63751409, rs138465383, rs1573573619, rs1572720192, rs1572720794, rs1572722737, rs1572723723, rs1572725235, rs745483465, rs1572728039, rs1572728112, rs1572728472, rs1572729161, rs1175196087, rs1572736128, rs1572738533, rs1572739043, rs891318615, rs1572741984, rs1572745084, rs1572746382, rs1572746488, rs1060504739, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1573566175, rs1572739119, rs1572746025, rs1575449402, rs1325835006, rs1672250353, rs1672664863, rs1672951706, rs1673066717, rs1673067879, rs1673070318, rs1666728055, rs1667076589, rs63751433, rs1667245819, rs1667245915, rs1667313093, rs1667395869, rs1667504677, rs1668118988, rs1668692410, rs587779313, rs1669058948, rs1669059418, rs1669245178, rs1669252923, rs1669287624, rs1007311950, rs1669354866, rs1669364351, rs1669365820, rs41295270, rs1669441162, rs1669445829, rs1669451548, rs1669467747, rs1669486855, rs1669487701, rs1669491751, rs1669493890, rs1669760609, rs1669874125, rs1670044220, rs1670120965, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1784806713, rs1221485925, rs1299958102, rs1669882321, rs2082517369, rs1673083690, rs1667266283, rs1307026290, rs1672953209, rs1667575488	25944804
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
Intellectual disability-cardiac arrhythmia syndrome	GNB5-related intellectual disability-cardiac arrhythmia syndrome	rs886041054, rs773902879, rs886041055, rs749597091
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276

Unknown
Disease term	Disease name	Evidence	References	Source
Uveal Melanoma	Uveal Melanoma	Furthermore, knocking-down GPS2 promoted the proliferation and metastatic abilities of UM cells both in vivo and in vitro.		GWAS, CBGDA
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	34573334
Alzheimer Disease	Associate	32525932
Anxiety	Associate	34684344
Arrhythmias Cardiac	Associate	40565581
Asymptomatic Diseases	Associate	32525932
Bradycardia	Associate	34573334
Carcinoma Embryonal	Associate	8679447
Cognition Disorders	Associate	32525932
Colorectal Neoplasms	Associate	30719834
Cytomegalovirus Infections	Associate	31438890
Diabetes Mellitus Type 1	Associate	40565581
Diabetes Mellitus Type 2	Associate	32525932
Epilepsy	Associate	31479876
Genetic Diseases Inborn	Associate	31479876
Heart Arrest	Associate	34573334
Intellectual Disability	Associate	31479876, 34573334
Muscle Hypotonia	Associate	31479876
Osteoporosis	Associate	37335694
Parkinson Disease	Associate	35342758, 38255780
Prader Willi Syndrome	Associate	40565581
Pre Eclampsia	Stimulate	34894939
Prostatic Neoplasms	Associate	23773523
Seizures	Associate	38166692
Seminoma	Inhibit	8679447
Sick Sinus Syndrome	Associate	31479876
Uniparental disomy of chromosome 2	Associate	40565581
Vision Disorders	Associate	31479876