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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	2778
Gene name	GNAS complex locus
Gene symbol	GNAS
Synonyms (NCBI Gene)	AHOAIMAH1C20orf45GNAS1GPSAGSAGSPNESPPITA3POHSCG6SgVI
Chromosome	20
Chromosome location	20q13.32
Summary	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5` exons. Some transcripts contain a differentially methyla

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11554273	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs111541229	G>C,T	Likely-pathogenic	Splice donor variant, intron variant
rs113029858	G>C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs121913494	A>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs121913495	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854530	A>G,T	Likely-pathogenic, pathogenic	Upstream transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, initiator codon variant
rs137854531	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854532	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854533	G>C,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854534	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854535	C>T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854536	CG>GC	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854537	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs137854538	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant, missense variant
rs137854539	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs201332059	T>G	Not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs397514456	G>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs397514457	T>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs587776829	GACT>-	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs774711025	CTG>-,CTGCTG	Pathogenic	Upstream transcript variant, inframe deletion, intron variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe insertion
rs797044895	A>G	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, 5 prime UTR variant, missense variant, coding sequence variant
rs797045046	C>G,T	Pathogenic	Upstream transcript variant, stop gained, intron variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs797045203	C>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, missense variant, coding sequence variant, downstream transcript variant
rs863224876	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs886039383	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886039677	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs1057518224	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1057518907	C>G,T	Pathogenic	Intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained, missense variant
rs1057520715	G>A	Pathogenic	Intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1064794045	G>C	Pathogenic	Intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1064795798	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant, genic downstream transcript variant
rs1085307719	CGCCAT>-	Pathogenic	Intron variant, inframe deletion, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, initiator codon variant
rs1131691999	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant, genic downstream transcript variant
rs1135401777	G>A	Likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant
rs1272546759	C>G,T	Likely-pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, 3 prime UTR variant
rs1555883949	T>C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant, intron variant, upstream transcript variant, initiator codon variant
rs1555889031	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs1555889131	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1555891562	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, 3 prime UTR variant
rs1555891584	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, 3 prime UTR variant
rs1555891728	CGCTGAGAAAGTCCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, inframe deletion
rs1555891743	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, 3 prime UTR variant
rs1569015549	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs1569020396	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, 3 prime UTR variant
rs1569031388	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1569032751	CAT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, inframe deletion
rs1601115202	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1601115231	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1601162438	C>T	Pathogenic	Non coding transcript variant, downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, 3 prime UTR variant
rs1601163749	C>-	Pathogenic	Non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1601164303	->GG	Pathogenic	Non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1601164378	G>C	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs1601166850	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

310

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020904	hsa-miR-155-5p	Proteomics	18668040
MIRT052019	hsa-let-7b-5p	CLASH	23622248
MIRT051047	hsa-miR-17-5p	CLASH	23622248
MIRT044478	hsa-miR-320a	CLASH	23622248
MIRT044478	hsa-miR-320a	CLASH	23622248
MIRT043309	hsa-miR-331-3p	CLASH	23622248
MIRT042911	hsa-miR-324-3p	CLASH	23622248
MIRT040832	hsa-miR-18a-3p	CLASH	23622248
MIRT039683	hsa-miR-615-3p	CLASH	23622248
MIRT039683	hsa-miR-615-3p	CLASH	23622248
MIRT036192	hsa-miR-320b	CLASH	23622248
MIRT036192	hsa-miR-320b	CLASH	23622248
MIRT154876	hsa-miR-5196-3p	HITS-CLIP	23313552
MIRT703282	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT154852	hsa-miR-205-5p	HITS-CLIP	23313552
MIRT154853	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT154861	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT703281	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT703280	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT154857	hsa-miR-376a-3p	HITS-CLIP	23313552
MIRT154858	hsa-miR-376b-3p	HITS-CLIP	23313552
MIRT154856	hsa-miR-188-3p	HITS-CLIP	23313552
MIRT703279	hsa-miR-425-3p	HITS-CLIP	23313552
MIRT703278	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703277	hsa-miR-4642	HITS-CLIP	23313552
MIRT154882	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT154889	hsa-miR-4280	PAR-CLIP	21572407
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT154895	hsa-miR-4459	PAR-CLIP	21572407
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	21572407
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	21572407
MIRT154885	hsa-miR-1299	PAR-CLIP	21572407
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	21572407
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	21572407
MIRT493774	hsa-miR-5706	PAR-CLIP	21572407
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23446348
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23446348
MIRT154882	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT493778	hsa-miR-6838-3p	PAR-CLIP	23592263
MIRT154889	hsa-miR-4280	PAR-CLIP	23592263
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT154895	hsa-miR-4459	PAR-CLIP	23592263
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	23592263
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT154884	hsa-miR-875-3p	PAR-CLIP	23592263
MIRT493777	hsa-miR-6128	PAR-CLIP	23592263
MIRT154897	hsa-miR-4540	PAR-CLIP	23592263
MIRT154885	hsa-miR-1299	PAR-CLIP	23592263
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	23592263
MIRT493774	hsa-miR-5706	PAR-CLIP	23592263
MIRT154898	hsa-miR-3978	PAR-CLIP	23592263
MIRT493773	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT493772	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT493771	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT493770	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT493769	hsa-miR-4274	PAR-CLIP	23592263
MIRT493768	hsa-miR-4519	PAR-CLIP	23592263
MIRT493767	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT493766	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT493765	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT493764	hsa-miR-6786-3p	PAR-CLIP	23592263
MIRT493763	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT493762	hsa-miR-3665	PAR-CLIP	23592263
MIRT154901	hsa-miR-6073	PAR-CLIP	23592263
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23592263
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23592263
MIRT440558	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT154882	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT020904	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT154852	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT440557	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440556	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440552	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT440558	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT154882	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT020904	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT051047	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727562	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727561	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727560	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT154852	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT440557	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440556	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440555	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT440554	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440553	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440552	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT154876	hsa-miR-5196-3p	HITS-CLIP	23313552
MIRT703282	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT154852	hsa-miR-205-5p	HITS-CLIP	23313552
MIRT154853	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT154861	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT703281	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT703280	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT154857	hsa-miR-376a-3p	HITS-CLIP	23313552
MIRT154858	hsa-miR-376b-3p	HITS-CLIP	23313552
MIRT154856	hsa-miR-188-3p	HITS-CLIP	23313552
MIRT703279	hsa-miR-425-3p	HITS-CLIP	23313552
MIRT703278	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703277	hsa-miR-4642	HITS-CLIP	23313552
MIRT154882	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT154889	hsa-miR-4280	PAR-CLIP	21572407
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT154895	hsa-miR-4459	PAR-CLIP	21572407
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	21572407
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	21572407
MIRT154885	hsa-miR-1299	PAR-CLIP	21572407
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	21572407
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	21572407
MIRT493774	hsa-miR-5706	PAR-CLIP	21572407
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23446348
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23446348
MIRT154882	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT493778	hsa-miR-6838-3p	PAR-CLIP	23592263
MIRT154889	hsa-miR-4280	PAR-CLIP	23592263
MIRT154900	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT154895	hsa-miR-4459	PAR-CLIP	23592263
MIRT154894	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT154876	hsa-miR-5196-3p	PAR-CLIP	23592263
MIRT154891	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT154884	hsa-miR-875-3p	PAR-CLIP	23592263
MIRT493777	hsa-miR-6128	PAR-CLIP	23592263
MIRT154897	hsa-miR-4540	PAR-CLIP	23592263
MIRT154885	hsa-miR-1299	PAR-CLIP	23592263
MIRT493776	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT493775	hsa-miR-4782-5p	PAR-CLIP	23592263
MIRT493774	hsa-miR-5706	PAR-CLIP	23592263
MIRT154898	hsa-miR-3978	PAR-CLIP	23592263
MIRT493773	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT493772	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT493771	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT493770	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT493769	hsa-miR-4274	PAR-CLIP	23592263
MIRT493768	hsa-miR-4519	PAR-CLIP	23592263
MIRT493767	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT493766	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT493765	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT493764	hsa-miR-6786-3p	PAR-CLIP	23592263
MIRT493763	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT493762	hsa-miR-3665	PAR-CLIP	23592263
MIRT154901	hsa-miR-6073	PAR-CLIP	23592263
MIRT493761	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT493760	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT493759	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT493758	hsa-miR-888-3p	PAR-CLIP	23592263
MIRT493757	hsa-miR-219b-5p	PAR-CLIP	23592263
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023619	hsa-miR-2113	CLIP-seq
MIRT1023620	hsa-miR-218	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023622	hsa-miR-3157-3p	CLIP-seq
MIRT1023623	hsa-miR-3179	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023625	hsa-miR-338-5p	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023627	hsa-miR-3609	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023630	hsa-miR-4471	CLIP-seq
MIRT1023631	hsa-miR-4474-3p	CLIP-seq
MIRT1023632	hsa-miR-4668-5p	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023634	hsa-miR-4720-3p	CLIP-seq
MIRT1023635	hsa-miR-4724-5p	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023638	hsa-miR-4766-5p	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023640	hsa-miR-4804-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023642	hsa-miR-548ah	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023646	hsa-miR-636	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023648	hsa-miR-663b	CLIP-seq
MIRT1023649	hsa-miR-1178	CLIP-seq
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT1023650	hsa-miR-1295	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023619	hsa-miR-2113	CLIP-seq
MIRT1023651	hsa-miR-23a	CLIP-seq
MIRT1023652	hsa-miR-23b	CLIP-seq
MIRT1023653	hsa-miR-23c	CLIP-seq
MIRT1023654	hsa-miR-3137	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023622	hsa-miR-3157-3p	CLIP-seq
MIRT1023655	hsa-miR-3160-5p	CLIP-seq
MIRT1023623	hsa-miR-3179	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023625	hsa-miR-338-5p	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023627	hsa-miR-3609	CLIP-seq
MIRT1023656	hsa-miR-3686	CLIP-seq
MIRT1023657	hsa-miR-4263	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023630	hsa-miR-4471	CLIP-seq
MIRT1023631	hsa-miR-4474-3p	CLIP-seq
MIRT1023658	hsa-miR-4652-3p	CLIP-seq
MIRT1023632	hsa-miR-4668-5p	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023635	hsa-miR-4724-5p	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023638	hsa-miR-4766-5p	CLIP-seq
MIRT1023659	hsa-miR-4775	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023660	hsa-miR-4799-5p	CLIP-seq
MIRT1023661	hsa-miR-513a-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023642	hsa-miR-548ah	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023662	hsa-miR-576-5p	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023663	hsa-miR-590-3p	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023648	hsa-miR-663b	CLIP-seq
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023616	hsa-miR-1262	CLIP-seq
MIRT2003553	hsa-miR-1275	CLIP-seq
MIRT1023650	hsa-miR-1295	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023619	hsa-miR-2113	CLIP-seq
MIRT1023620	hsa-miR-218	CLIP-seq
MIRT1023654	hsa-miR-3137	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023622	hsa-miR-3157-3p	CLIP-seq
MIRT1023655	hsa-miR-3160-5p	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023625	hsa-miR-338-5p	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023627	hsa-miR-3609	CLIP-seq
MIRT1023656	hsa-miR-3686	CLIP-seq
MIRT2003554	hsa-miR-4260	CLIP-seq
MIRT1023657	hsa-miR-4263	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023629	hsa-miR-4275	CLIP-seq
MIRT1023630	hsa-miR-4471	CLIP-seq
MIRT1023631	hsa-miR-4474-3p	CLIP-seq
MIRT1023658	hsa-miR-4652-3p	CLIP-seq
MIRT2003555	hsa-miR-4665-5p	CLIP-seq
MIRT1023633	hsa-miR-4701-3p	CLIP-seq
MIRT1023634	hsa-miR-4720-3p	CLIP-seq
MIRT1023635	hsa-miR-4724-5p	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023638	hsa-miR-4766-5p	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023660	hsa-miR-4799-5p	CLIP-seq
MIRT1023640	hsa-miR-4804-3p	CLIP-seq
MIRT1023661	hsa-miR-513a-3p	CLIP-seq
MIRT1023641	hsa-miR-541	CLIP-seq
MIRT1023642	hsa-miR-548ah	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023662	hsa-miR-576-5p	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023646	hsa-miR-636	CLIP-seq
MIRT1023647	hsa-miR-654-5p	CLIP-seq
MIRT1023648	hsa-miR-663b	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT1023618	hsa-miR-2053	CLIP-seq
MIRT1023621	hsa-miR-3153	CLIP-seq
MIRT1023624	hsa-miR-3202	CLIP-seq
MIRT1023626	hsa-miR-34b	CLIP-seq
MIRT1023628	hsa-miR-4271	CLIP-seq
MIRT1023636	hsa-miR-4725-3p	CLIP-seq
MIRT1023637	hsa-miR-4747-5p	CLIP-seq
MIRT1023639	hsa-miR-4787-5p	CLIP-seq
MIRT1023643	hsa-miR-569	CLIP-seq
MIRT1023644	hsa-miR-579	CLIP-seq
MIRT1023645	hsa-miR-625	CLIP-seq
MIRT1023617	hsa-miR-155	CLIP-seq
MIRT2450438	hsa-miR-4428	CLIP-seq
MIRT2450439	hsa-miR-570	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
GATA1	Unknown	11418466
YY1	Unknown	18458536

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001726	Component	Ruffle	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	TAS
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	9159128
GO:0003925	Function	G protein activity	IDA	10200251, 17110384
GO:0003925	Function	G protein activity	TAS
GO:0005159	Function	Insulin-like growth factor receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	12719376, 20852621, 22177524, 23353685, 23994616, 26823173, 27120771, 27621449, 34110646
GO:0005525	Function	GTP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	20862257
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12719376
GO:0005737	Component	Cytoplasm	IDA	20862257
GO:0005829	Component	Cytosol	IDA	12719376
GO:0005829	Component	Cytosol	ISS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	ISS
GO:0005834	Component	Heterotrimeric G-protein complex	TAS	9159128
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9727013
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	10200251, 12391161, 12719376, 17110384, 39884271
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	12719376
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	9159128
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IBA
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	ISS
GO:0007192	Process	Adenylate cyclase-activating serotonin receptor signaling pathway	IDA	17110384
GO:0007192	Process	Adenylate cyclase-activating serotonin receptor signaling pathway	IDA	17110384
GO:0007565	Process	Female pregnancy	NAS	10729789
GO:0007606	Process	Sensory perception of chemical stimulus	IBA
GO:0007608	Process	Sensory perception of smell	TAS	3018580
GO:0009306	Process	Protein secretion	NAS	10729789
GO:0009966	Process	Regulation of signal transduction	IMP	12719376
GO:0010854	Function	Adenylate cyclase regulator activity	IDA	17110384
GO:0010856	Function	Adenylate cyclase activator activity	ISS
GO:0010856	Function	Adenylate cyclase activator activity	TAS
GO:0014819	Process	Regulation of skeletal muscle contraction	IDA	39884271
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	7997272, 12719376
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0031698	Function	Beta-2 adrenergic receptor binding	IBA
GO:0031748	Function	D1 dopamine receptor binding	IBA
GO:0031748	Function	D1 dopamine receptor binding	IPI	33571431
GO:0031852	Function	Mu-type opioid receptor binding	IBA
GO:0032588	Component	Trans-Golgi network membrane	IDA	7997272
GO:0034695	Process	Response to prostaglandin E	IDA	17110384
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0040015	Process	Negative regulation of multicellular organism growth	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046907	Process	Intracellular transport	NAS	7997272
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21584660
GO:0048589	Process	Developmental growth	IDA	12719376
GO:0048589	Process	Developmental growth	IMP	12719376
GO:0050766	Process	Positive regulation of phagocytosis	IDA	27994074
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0050890	Process	Cognition	IDA	12719376
GO:0050890	Process	Cognition	IMP	12719376
GO:0051430	Function	Corticotropin-releasing hormone receptor 1 binding	IBA
GO:0060348	Process	Bone development	IDA	12719376
GO:0060348	Process	Bone development	IMP	12719376
GO:0060789	Process	Hair follicle placode formation	IDA	12719376
GO:0060789	Process	Hair follicle placode formation	IMP	12719376
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:0070527	Process	Platelet aggregation	IDA	12719376
GO:0070527	Process	Platelet aggregation	IMP	12719376
GO:0071107	Process	Response to parathyroid hormone	IEA
GO:0071107	Process	Response to parathyroid hormone	IMP	22378814
GO:0071377	Process	Cellular response to glucagon stimulus	TAS
GO:0071380	Process	Cellular response to prostaglandin E stimulus	ISS
GO:0071468	Process	Cellular response to acidic pH	IDA	39753132
GO:0071870	Process	Cellular response to catecholamine stimulus	ISS
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IDA	12391161
GO:0097700	Process	Vascular endothelial cell response to laminar fluid shear stress	TAS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	20374964

MIM	HGNC	e!Ensembl
139320	4392	ENSG00000087460

O95467

Protein name

Neuroendocrine secretory protein 55 (NESP55) [Cleaved into: LHAL tetrapeptide; GPIPIRRH peptide]

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06390	NESP55	1 → 245	Neuroendocrine-specific golgi protein P55 (NESP55)	Family

Sequence

MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQ
RRSFLNAHHRSGAQVFPESPESESDHEHEEADLELSLPECLEYEEEFDYETESETESEIE
SETDFETEPETAPTTEPETEPEDDRGPVVPKHSTFGQSLTQRLHALKLRSPDASPSRAPP
STQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPTRRDASPESPSKKGPI
PIRRH

Sequence length

245

P63092

Protein name

Guanine nucleotide-binding protein G(s) subunit alpha isoforms short (EC 3.6.5.-) (Adenylate cyclase-stimulating G alpha protein)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:12391161, PubMed:17110384, PubMed:21488135, PubMed:26206488, PubMed:8702665, PubMed

PDB

5G53 , 5UZ7 , 5VAI , 6AU6 , 6B3J , 6E3Y , 6E67 , 6EG8 , 6GDG , 6LI3 , 6LMK , 6LPB , 6M1H , 6M1I , 6NI3 , 6NIY , 6ORV , 6P9X , 6P9Y , 6PB0 , 6PB1 , 6UUN , 6UUS , 6UVA , 6VCB , 6VN7 , 6WHC , 6WI9 , 6WPW , 6WZG , 6X18 , 6X19 , 6X1A , 6XOX , 7AUE , 7BB6 , 7BB7 , 7BPH , 7BW0 , 7BZ2 , 7C2E , 7CFM , 7CFN , 7CKW , 7CKX , 7CKY , 7CKZ , 7CRH , 7CX2 , 7CX3 , 7CX4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	20 → 383	G-protein alpha subunit	Domain

Sequence

MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQM
RILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELA
NPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLD
KIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFND
VTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEK
VLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCY
PHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL

Sequence length

394

P84996

Protein name

Protein ALEX (Alternative gene product encoded by XL-exon)

Protein function

May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.

Family and domains

Sequence

MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLD
SPVGSMQALRPSAQHSWSPEPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQ
TLLQEAQVLQGSPELLPRSPKPSGLQRLAPEEATALPLRRLCHLSLMEKDLGTTAHPRGF
PELSHKSTAAASSRQSRPRVRSASLPPRTRLPSGSQAPSAAHPKRLSDLLLTSRAAAPGW
RSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEPQIRESEQRDPQLRRKQQRWK
EPLMPRREEKYPLRGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPTPGQHQPILTP
GHSQPIPTPGQPLPPQPIPTPGRPLTPQPIPTPGRPLTPQPIQMPGRPLRLPPPLRLLRP
GQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLL
RGLLARLPGGASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAES
PSATYSATFSCKPSGAASVDLRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQR
RNAVSSSTNNSRTKRWATCVRTACCF

Sequence length

626

Q5JWF2

Protein name

Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas (EC 3.6.5.-) (Adenylate cyclase-stimulating G alpha protein) (Extra large alphas protein) (XLalphas)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). The alpha chain contains the guanine nucleotide binding site and alternates between an act

PDB

8I2G , 8JHB , 8JHI , 8WW2 , 9BKK , 9J1P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	663 → 1026	G-protein alpha subunit	Domain

Sequence

MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIP
VENDGEACGPPEVSRPNFQVLNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQ
PGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEEAMPFEFDQPAQRGCSQLLLQ
VPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPP
GLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSP
WMEISGPPFEIGSAPAGVDDTPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAE
MEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPADPDSGATPEDPDSGTAPADP
DSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAA
ETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADP
PTPRPTRASAWRGKSESSRGRRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRR
RKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVPLAEKRRQMRKEALEKRAQKR
AEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDP
QAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNV
PDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDL
LRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVI
REDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFAR
YTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFN
DCRDIIQRMHLRQYELL

Sequence length

1037

Interactions

View interactions

634

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACTH-independent macronodular adrenal hyperplasia 1	Likely pathogenic; Pathogenic	rs11554273, rs121913495	RCV004558264 RCV004558265 RCV004558266
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis	Pathogenic; Likely pathogenic	rs797045046, rs2516794697	RCV006436695 RCV006437221
Disorders of GNAS Inactivation	Likely pathogenic; Pathogenic	rs2517261214, rs587776829, rs1085307719	RCV003389351 RCV003389234 RCV003389328
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs121913495	RCV006253625
Gastric cancer	Pathogenic	rs1555889131	RCV005901103
GNAS-associated disease	Likely pathogenic; Pathogenic	rs2517082005	RCV005227807
GNAS-related disorder	Likely pathogenic; Pathogenic	rs2146278555, rs2146285582, rs2146292463, rs2089384365, rs2146179050, rs2517296553, rs2145916888, rs797045046, rs2517269338, rs2517248665, rs2516798313, rs2517284734, rs2517296110, rs587776829, rs137854538 View all (8 more)	RCV004734158 RCV004734159 RCV004531185 RCV004734244 RCV004542142 RCV004529118 RCV004536549 RCV004530088 RCV004723265 RCV004528631 RCV004534334 RCV004527838 RCV004736373 RCV004532373 RCV004545870 RCV004542660 RCV004536906 RCV004544207 RCV004537885 RCV004735684 RCV000767533 RCV004536045 RCV004734008
Hereditary spastic paraplegia 4	Pathogenic	rs137854532	RCV001729350
Intellectual disability	Likely pathogenic	rs2086303843	RCV001255350
Juvenile type testicular granulosa cell tumor	Pathogenic	rs11554273	RCV006253626
McCune-Albright syndrome	Pathogenic; Likely pathogenic	rs1555889131, rs11554273, rs121913495, rs121913494, rs587776829, rs2516973680, rs1569032751	RCV001329336 RCV000017287 RCV000017290 RCV000191995 RCV000191991 RCV005862721 RCV000017310 RCV003988604 RCV000761303
Neoplasm	Likely pathogenic; Pathogenic	rs11554273, rs121913495	RCV000420084 RCV000430768
Pituitary adenoma 3, multiple types	Likely pathogenic; Pathogenic	rs11554273, rs121913495, rs121913494, rs137854533	RCV000508635 RCV000508670 RCV000017294 RCV000017296
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC	Pathogenic	rs11554273	RCV000017297
Polyostotic fibrous dysplasia, somatic, mosaic	Pathogenic	rs11554273	RCV000017298
Progressive osseous heteroplasia	Likely pathogenic; Pathogenic	rs2146290960, rs2145916852, rs2090848106, rs2146290056, rs1601163749, rs587776829	RCV001808886 RCV001814752 RCV002273842 RCV002510563 RCV000017283 RCV000017301
Pseudohypoparathyroidism	Pathogenic; Likely pathogenic	rs2091380655, rs2090848106, rs2146290056, rs797045046, rs863224876, rs137854530, rs1601164378, rs1601163749, rs137854531, rs137854532, rs587776829, rs137854534, rs2145916749, rs137854538, rs2146271310 View all (11 more)	RCV001335369 RCV002273841 RCV000017320 RCV000191090 RCV000196321 RCV000017278 RCV000017279 RCV000017281 RCV000017285 RCV000017286 RCV000017300 RCV000017303 RCV000017305 RCV000017311 RCV000017312 RCV000017314 RCV000017318 RCV000017323 RCV000017327 RCV000017328 RCV000787033 RCV000853231 RCV001007584 RCV001007922 RCV001253618 RCV001260991
Pseudohypoparathyroidism type 1B	Likely pathogenic; Pathogenic	rs2146278555, rs2145916852, rs11554273, rs587776829, rs2516370196, rs1057518907, rs1569032751, rs1601162438, rs2089393181, rs2090829910	RCV003989689 RCV001814752 RCV004760335 RCV001196108 RCV003990730 RCV001270163 RCV002273823 RCV003336225 RCV001095787 RCV001196820
Pseudohypoparathyroidism type 1C	Likely pathogenic; Pathogenic	rs2146184726, rs2145916852, rs2146299968, rs2517134050, rs863224876, rs587776829, rs1254063262, rs397514456, rs397514457, rs1601162438	RCV001376073 RCV001814752 RCV003138029 RCV002284004 RCV000196321 RCV003227604 RCV000017329 RCV000022597 RCV000022598 RCV000022599 RCV003336225
Pseudohypoparathyroidism type I A	Likely pathogenic; Pathogenic	rs2146184726, rs2145916888, rs2145916985, rs372290095, rs774895847, rs2146270332, rs2146278555, rs1555891584, rs2146285582, rs2146292463, rs2146300461, rs2146304864, rs2146305127, rs2146305299, rs2146305978 View all (26 more)	RCV001376073 RCV001732160 RCV001732161 RCV001732163 RCV001732164 RCV001732165 RCV001732166 RCV001732168 RCV001732169 RCV001732170 RCV001732171 RCV001732172 RCV001732173 RCV001732174 RCV001732175 RCV001732162 RCV005861243 RCV001806426 RCV001814752 RCV005235629 RCV006249775 RCV002226845 RCV002250022 RCV002250023 RCV002255782 RCV002259424 RCV002272602 RCV002283660 RCV004786809 RCV004786518 RCV003314347 RCV003314468 RCV003322695 RCV003338035 RCV002288507 RCV001813747 RCV001731307 RCV001731309 RCV006445016 RCV005234792 RCV005235479 RCV002283517 RCV002250726
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	Pathogenic	rs137854537	RCV000017309
Pseudopseudohypoparathyroidism	Likely pathogenic; Pathogenic	rs2146305127, rs2146183586, rs2146006354, rs2145916852, rs2146304851, rs2517296553, rs2146178784, rs797045046, rs2146182293, rs1601164378, rs1601163749, rs587776829, rs2145916749, rs137854536, rs2146271310 View all (8 more)	RCV005866981 RCV001730120 RCV001814684 RCV001814752 RCV002251256 RCV002282784 RCV005930327 RCV000191090 RCV003455836 RCV000017280 RCV000017282 RCV000017302 RCV000017304 RCV000017307 RCV000017313 RCV000017315 RCV000017319 RCV000017322 RCV004577195 RCV000515760 RCV000785915 RCV003336225 RCV001289548
See cases	Likely pathogenic; Pathogenic	rs587776829, rs2516902294, rs1555883949	RCV005887532 RCV003886327 RCV002222189
Sex cord-stromal tumor	Likely pathogenic; Pathogenic	rs11554273, rs121913495	RCV000017289 RCV000017293
Uterine corpus endometrial carcinoma	Pathogenic	rs2146179050	RCV005922862

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs1004902	RCV005919364
Cervical cancer	Likely benign	rs1004902	RCV005919366
Cholangiocarcinoma	Benign	rs2295583	RCV005917007
Clear cell carcinoma of kidney	Likely benign	rs61737691	RCV005911941
Duane retraction syndrome	Uncertain significance	rs761504648, rs752452409, rs764628148, rs2086397760	RCV003883209 RCV003883441 RCV003883442 RCV003883443
Familial cancer of breast	Conflicting classifications of pathogenicity	rs576071932	RCV005870639
Lung cancer	Likely benign	rs1004902	RCV005919370
Malignant lymphoma, large B-cell, diffuse	Benign	rs2295583	RCV005917005
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	rs1004902, rs576071932	RCV005919365 RCV005870640
Sarcoma	Likely benign	rs1004902, rs61737691	RCV005919367 RCV005911942
Thymoma	Benign	rs2295583	RCV005917006
Thyroid cancer, nonmedullary, 1	Likely benign	rs61737691	RCV005911943
Uterine carcinosarcoma	Likely benign	rs1004902	RCV005919369

Show/Hide Text Mining Associations (272)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	35296306, 9060842
Acrodysostosis	Associate	31041856, 9039990
Acromegaly	Associate	11254676, 16543670, 17878646, 22564667, 33752302, 34282806, 36435867, 36497102
Acth Independent Macronodular Adrenal Hyperplasia	Associate	22259056
ACTH Secreting Pituitary Adenoma	Associate	11836449, 19429701, 22259056, 26743443, 28894201, 33168091, 34534321
Addison Disease	Associate	35927642
Adenocarcinoma	Associate	21775669, 25867268, 26536055, 28179590, 31324814, 36357817
Adenocarcinoma Mucinous	Associate	25840541, 27647802, 28776576, 31231124, 33295976, 35467000, 36493333, 39496820
Adenocarcinoma of Lung	Associate	26066407, 28776576, 32083571, 35946511
Adenoma	Associate	26743443, 27767239, 34232602
Adenoma Basophil	Associate	11836449
Adenoma Villous	Associate	25007176
Adenomatosis Pulmonary	Associate	34232602
Adenomatous Polyposis Coli	Associate	11075727, 27767239
Adrenal Cortex Diseases	Associate	22259056
Adrenal Gland Diseases	Associate	22259056
Adrenal Gland Neoplasms	Associate	10813107, 19429701, 9392354
Adrenal Hyperplasia Congenital	Associate	26188235
Adrenocortical Adenoma	Associate	27606678, 30670014
Adrenocortical Carcinoma	Associate	25490274, 32875319
Alopecia Neurologic Defects and Endocrinopathy Syndrome	Associate	11272890
Alzheimer Disease	Associate	28084650, 9292885
Ameloblastoma	Associate	33395399
Anaphylaxis	Associate	34142482
Antiphospholipid Syndrome	Inhibit	35395698
Anxiety	Associate	29225348
Apparent mineralocorticoid excess	Associate	32355271
Appendiceal Neoplasms	Associate	28526814, 30692096, 32733093, 33295976
Bankart Lesions	Associate	23370769
Bartter Syndrome	Associate	26743443
Basal Cell Nevus Syndrome	Associate	25940061
Beckwith Wiedemann Syndrome	Associate	19092779, 40490796
Bile Duct Neoplasms	Associate	22954004, 24312577
Biliary Tract Neoplasms	Associate	36715178
Bipolar Disorder	Associate	23032945
Birk Barel Mental Retardation Dysmorphism Syndrome	Associate	28902630
Blood Platelet Disorders	Associate	37906994
Bone Cysts Aneurysmal	Associate	35147121
Bone Diseases	Associate	18634020, 36652988, 9060842
Brachydactyly	Associate	21752878, 27871293, 40589517
Brachydactyly Type E	Associate	40589517
Breast Neoplasms	Associate	23752180, 25757876, 26894955, 32538432, 36424660, 36652988, 37202799
Breast Neoplasms Male	Associate	25490678
Cafe au Lait Spots	Associate	31852070
Carcinogenesis	Associate	11075727, 29947650, 34299200, 36965665
Carcinoma	Associate	31977320
Carcinoma Adenosquamous	Associate	36790480, 37650999
Carcinoma Hepatocellular	Associate	9362361
Carcinoma Intraductal Noninfiltrating	Associate	26718977
Carcinoma Lobular	Associate	27718288
Carcinoma Mucoepidermoid	Associate	33832503
Carcinoma Non Small Cell Lung	Associate	35946511
Carcinoma Pancreatic Ductal	Associate	24897499, 28810144, 32205290, 32696980
Carcinoma Papillary	Associate	25840541
Carcinoma Renal Cell	Associate	31998788, 32628820
Carcinoma Squamous Cell	Associate	33485313, 36780540
Cardiomyopathy Hypertrophic	Associate	10843907, 11583900
Carpal Tunnel Syndrome	Associate	21525160
Central Nervous System Infections	Associate	37678673
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	27425121
Cherubism	Associate	35672467
Cholangiocarcinoma	Associate	17356712, 23335286, 24186137
Cholangitis Sclerosing	Associate	35897137, 36252869
Cholestasis Intrahepatic	Associate	22954004
Chondrosarcoma	Associate	34528398
Chondrosarcoma Extraskeletal Myxoid	Associate	11092390
Cognition Disorders	Associate	30616679
Colonic Neoplasms	Associate	25007176
Colorectal Neoplasms	Associate	20126641, 24498230, 25007176, 27756406, 30042065, 30205948, 31531420, 32733093, 35751785, 37394872
Congenital Abnormalities	Associate	25594858, 34157100, 34741517, 35197096
Congenital Hyperinsulinism	Associate	23869231
Congenital Hypothyroidism	Associate	30022773
Coronary Disease	Associate	22388798
COVID 19	Associate	34185889, 34975833
Cushing Syndrome	Associate	10813107, 26743443, 30670014, 35197096
Cyclic neutropenia	Associate	34963005
Cystic Fibrosis	Associate	21775669, 32792597, 35964683
Cysts	Associate	26253305, 33082481, 39567272
Death Sudden Cardiac	Associate	27895044
Depressive Disorder	Stimulate	19955554
Developmental Disabilities	Associate	28902630
Diabetes Gestational	Associate	25269528
Diabetes Mellitus	Associate	15894831, 30365517
Diabetes Mellitus Transient Neonatal 1	Associate	19092779
Diabetes Mellitus Type 2	Associate	34029697, 37935955
Diffuse Cerebral Sclerosis of Schilder	Associate	35672467
Digestive System Diseases	Associate	33832503
Disease	Associate	36593655
Disease Resistance	Associate	20965295, 27428667
Disorder of Sex Development 46 XY	Associate	39285472
Dwarfism Pituitary	Associate	1594625
Ectodermal Dysplasia	Associate	32875319
Ectromelia	Associate	18089698
Endocrine System Diseases	Associate	1324476, 27871293
Esophageal Achalasia	Associate	34282806
Esophageal Squamous Cell Carcinoma	Associate	33457096
Essential Hypertension	Associate	32555714
Fabry Disease	Associate	12952917, 15096559, 22247037, 33512531, 36593655, 36652988, 36958543, 38255009
Facial Dysmorphism with Multiple Malformations	Associate	40589517
Familial medullary thyroid carcinoma	Associate	26530882
Fetal Growth Retardation	Associate	23884777, 25603460
Fibrous Dysplasia Monostotic	Associate	9060842
Fibrous Dysplasia of Bone	Associate	10404010, 11272890, 11341325, 11836449, 12854833, 12952917, 15096559, 16619580, 17334331, 17878646, 19287459, 19874199, 20346714, 21354047, 22431375 View all (28 more)
Fibrous Dysplasia Polyostotic	Associate	10685529, 11272890, 11836449, 15096559, 1594625, 16543670, 17878646, 18349068, 18489744, 19189654, 1944469, 20443919, 21357941, 22259056, 22564667 View all (27 more)
Fractures Bone	Associate	29158412
Gastrointestinal Neoplasms	Associate	25007176, 27154293, 30124968
Gaucher like disease	Associate	23281139
Genetic Diseases Inborn	Associate	26763073, 30962325, 32481259
Genetic Predisposition to Disease	Associate	2890163
Gigantism	Associate	25062453
Glioblastoma	Associate	1324476
Gliosarcoma	Associate	38097740
Growth Disorders	Associate	21274345, 27871293, 34740356
Growth Hormone Secreting Pituitary Adenoma	Associate	11254676, 16381821, 19029774, 19189654, 25637790, 26701869, 26743443, 27498687, 28486603, 29947650, 31189769, 31578227, 33752302, 34299200, 8514889
Hamartoma Syndrome Multiple	Associate	32875319
Heart defects limb shortening	Associate	31860119
Hemangioma	Associate	30111377
Hemorrhagic Disorders	Associate	15147378
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26338779
Hidradenitis Suppurativa	Associate	39940809
Hip Injuries	Associate	18634020
Hyperaldosteronism	Associate	26743443
Hyperlexia	Associate	35197096
Hyperlipoproteinemia Type I	Associate	36411698
Hyperparathyroidism	Associate	25062453
Hyperparathyroidism Primary	Associate	25062453
Hyperphosphatemia	Associate	11294659
Hyperplasia	Associate	26188235
Hyperprolactinemia	Associate	25062453
Hypersensitivity Immediate	Associate	31231124
Hypertension	Associate	12862199, 15894831, 30365517
Hypertension Resistant to Conventional Therapy	Associate	23370769
Hyperthyroidism	Associate	16543670, 35197096
Hyperthyroidism Nonautoimmune	Associate	31910104
Hypocalcemia	Associate	11294659
Hypogonadism	Associate	25062453
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	18489744
Hyponatremia	Associate	35197096
Hypoparathyroidism	Associate	35165722
Hypothyroidism	Associate	27170606, 30060753
Hypothyroidism Congenital Nongoitrous 1	Associate	21274302
Hypoxia	Associate	37686237
Immunologic Deficiency Syndromes	Associate	12619926
Infarction Middle Cerebral Artery	Associate	28216128
Insulin Resistance	Associate	24030943
Intellectual Disability	Associate	40589517
Kidney Diseases	Associate	24498230
Kidney Failure Chronic	Associate	1551195
Leukemia	Associate	25326804
Leukemia Myeloid Acute	Associate	10690642, 38245923
Liver Diseases	Associate	24186137
Lung Neoplasms	Associate	26418953, 33407425, 39496820
Lung Neoplasms	Stimulate	34906185
Lymphatic Metastasis	Associate	35013462
Lymphedema	Associate	32792597
Lymphoma	Associate	25326804
Madelung Deformity	Associate	21752878
MASS syndrome	Associate	30670014
Maternally Inherited Leigh Syndrome	Associate	37440712
Meandering main pancreatic duct	Associate	24897499
Medulloblastoma	Associate	25150496, 25940061, 31624069, 32380172, 36941703
Melanoma	Associate	21156401
Mental Disorders	Associate	30616679
Metabolic Diseases	Associate	25269528
Metaplasia	Associate	25867268
Multiple Endocrine Neoplasia Type 1	Associate	1358601, 8514889
Multiple System Atrophy	Associate	35197096
Musculoskeletal Abnormalities	Associate	30312418
Musculoskeletal Diseases	Associate	16619580, 18089698
Myelodysplastic Syndromes	Associate	34620690
Myocardial Bridging	Associate	28902630
Myxoma	Associate	19287459, 19320777, 28160572, 30111377, 30736805
Neoplasm Invasiveness	Associate	27095449
Neoplasm Metastasis	Associate	21156401, 31852070, 32538432, 36780540, 37394872
Neoplasms	Associate	11075727, 15096559, 17356712, 18491255, 19189654, 19893615, 20027678, 21156401, 22259056, 23752180, 24293293, 24741584, 24897499, 25757876, 25940061 View all (37 more)
Neoplasms	Inhibit	25150496, 28776576, 9362361
Neoplasms Cystic Mucinous and Serous	Associate	24639398, 27647802, 28970292, 35641204, 37198972
Neoplastic Syndromes Hereditary	Associate	12364467, 22814975, 28160572
Nephrogenic Syndrome of Inappropriate Antidiuresis	Associate	30962325
Nephrogenic Syndrome of Inappropriate Antidiuresis	Inhibit	35197096
Neuroblastoma	Associate	23034519
Neuroendocrine Tumors	Associate	31883967, 36026497, 39536727
Obesity	Associate	24030943, 27871293, 28453643, 29693731, 30365517, 37329217
Odontodysplasia	Associate	33144428
Oligomenorrhea	Associate	30060753
Opitz Kaveggia syndrome	Associate	39382261
Osseous Heteroplasia Progressive	Associate	11092389, 11092390, 11784876, 18553568, 19900597, 21274302, 22679513, 23796510, 23884777, 24798356, 29059381, 31977320, 35296306
Ossification Heterotopic	Associate	11092389, 18553568, 19900597, 24798356, 35296306
Osteoporosis	Associate	32271406
Osteosarcoma	Associate	26574629
Ovarian Diseases	Associate	38097740, 39595984
Ovarian Neoplasms	Associate	28216128
Overweight	Associate	29693731
Pain	Associate	29158412
Pancreatic Cyst	Associate	21775669, 22859495, 26253305, 28970292
Pancreatic Intraductal Neoplasms	Associate	21775669, 22355676, 22859495, 22954004, 23846778, 24312577, 24498386, 24525507, 24604757, 24897499, 25840541, 28776573, 28776576, 28970292, 29660844 View all (12 more)
Pancreatic Neoplasms	Associate	22226782, 24136929, 24293293, 31070037, 31852070, 32205290, 34674710
Pancreatitis	Associate	24897499
Paraganglioma Extra Adrenal	Associate	30670014
Parasitic Diseases	Associate	33832503
Parathyroid Diseases	Associate	12858292, 35296306
Paresthesia	Associate	20444925
Periprosthetic Fractures	Associate	31386280
Peritoneal Neoplasms	Associate	32711552
Peritonitis	Associate	27154293, 27502722, 32166754
Pheochromocytoma	Associate	39536727
Pituitary ACTH Hypersecretion	Associate	11836449
Pituitary Diseases	Associate	22564667, 34282806
Pituitary Neoplasms	Associate	1358601, 1594625, 19029774, 1944469, 27506760, 33752302, 36161330
Placenta Accreta	Associate	39294759
Polycystic Kidney Diseases	Associate	34469896
Polyposis Of Gastric Fundus Without Polyposis Coli	Associate	39382261
Polyps	Associate	21357941
Pre Eclampsia	Associate	39294759
Precancerous Conditions	Associate	31576098
Preeclamptic toxemia	Associate	23844573
Pressure Ulcer	Associate	12862199
Primary cortisol resistance	Associate	26743443, 30670014, 34534321
Primary Ovarian Insufficiency	Associate	39595984
Prolactinoma	Associate	11836449
Prostatic Neoplasms	Associate	19189654, 24741584
Prosthesis Failure	Associate	18634020
Pseudohypoaldosteronism	Associate	12619926, 25603460, 25997889, 26479409, 28084650, 32436958, 33180333, 33247854, 34791361, 35296306, 35859320, 40490796
Pseudohypoparathyroidism	Associate	11092389, 11092390, 11294659, 11784876, 12619926, 12624854, 12970263, 14561710, 15800843, 18089698, 18250541, 18553568, 19900597, 20008020, 20061437 View all (75 more)
Pseudohypoparathyroidism	Inhibit	19858129, 2109828, 21351142, 2890163, 9138150
Pseudohypoparathyroidism Type 1B	Associate	12619926, 12858292, 19092779, 21752878, 21836370, 25710380, 27170606, 28453643, 28902630, 29417303, 29445425, 30616679, 30905746, 34157100, 34741517, 35104666, 35859320, 40490796 View all (3 more)
Pseudohypoparathyroidism Type 1C	Associate	21488135
Pseudohypoparathyroidism Type 2	Associate	24423294
Pseudomyxoma Peritonei	Associate	26475379, 27154293, 28426742, 30072579, 30692096, 34711663, 35255903, 39742833
Pseudopseudohypoparathyroidism	Associate	11294659, 22679513, 23814007, 23884777, 25464124, 25603460, 29059381, 30060753, 30962325, 31041856, 31886927, 32436958, 35296306, 35871092, 7853365
Psoriasis	Associate	37935955
Puberty Precocious	Associate	31852070, 34327978
Pulmonary Arterial Hypertension	Associate	35960497
Pulmonary Disease Chronic Obstructive	Associate	39344484
Pulmonary Embolism	Associate	25062453
Pyruvate Carboxylase Deficiency Disease	Associate	28970292
Respiratory Tract Infections	Associate	26341786
Retinal Dysplasia	Associate	31175866, 34674710
Rhabdomyosarcoma Embryonal	Associate	39379998
Salter Harris Fractures	Associate	21752878
Silver Russell Syndrome	Associate	32546215
Smoke Inhalation Injury	Associate	28776576
Stomach Diseases	Associate	25867268, 34674710
Stomach Neoplasms	Associate	20027678, 28683819, 34268625
Syncope	Associate	18362425
Syncope Vasovagal	Associate	18362425, 21737952
Syndrome	Associate	33920573, 38250739
Tachycardia	Associate	34587755
Teratozoospermia	Associate	25762640
Tertiary Lymphoid Structures	Associate	23796510
Thrombosis	Associate	15147378, 32647264
Thymus Hyperplasia	Associate	25062453
Thyroid Crisis	Associate	22001338
Thyroid Hormone Resistance Syndrome	Associate	12858292, 18553568, 25464124, 30616679, 35296306, 40490796
Thyroid Neoplasms	Associate	15080771, 1594625, 16381821, 23979959, 27500488, 28410400
Thyroid Nodule	Associate	16284436, 19509103, 19550078
Thyroiditis	Associate	18349068
Tomaculous neuropathy	Associate	15147378
Tuberculosis Osteoarticular	Associate	39626485
Turner Syndrome	Associate	24915162
Uniparental Disomy	Associate	11294659, 19858129, 25005735
Upton Young syndrome	Associate	19078957
Urachal cancer	Associate	35467000
Uterine Cervical Dysplasia	Associate	23335286
Uveal melanoma	Associate	19078957, 21828154, 36576731
Vaginosis Bacterial	Associate	36511689
Venous Thrombosis	Associate	37906994
Ventricular Fibrillation	Associate	27895044
Virilism	Associate	30670014
Wasting Syndrome	Associate	30962325
Weight Gain	Associate	30312418
Wilms Tumor	Associate	30671724

GNAS (GNAS complex locus)