GNAS (GNAS complex locus)

Gene

• Entrez ID: 2778
• Gene name: GNAS complex locus
• Gene symbol: GNAS
• Synonyms (NCBI Gene): AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Unknown	11418466
YY1	Unknown	18458536

Gene ontology (GO)

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

Other IDs

• MIM: 139320
• HGNC: 4392
• e!Ensembl: ENSG00000087460

Protein

• UniProt ID: 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
• UniProt ID: 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
• UniProt ID: 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.
• Sequence:

  MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLD
  SPVGSMQALRPSAQHSWSPEPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQ
  TLLQEAQVLQGSPELLPRSPKPSGLQRLAPEEATALPLRRLCHLSLMEKDLGTTAHPRGF
  PELSHKSTAAASSRQSRPRVRSASLPPRTRLPSGSQAPSAAHPKRLSDLLLTSRAAAPGW
  RSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEPQIRESEQRDPQLRRKQQRWK
  EPLMPRREEKYPLRGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPTPGQHQPILTP
  GHSQPIPTPGQPLPPQPIPTPGRPLTPQPIPTPGRPLTPQPIQMPGRPLRLPPPLRLLRP
  GQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLL
  RGLLARLPGGASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAES
  PSATYSATFSCKPSGAASVDLRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQR
  RNAVSSSTNNSRTKRWATCVRTACCF

• Sequence length: 626
• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ACTH-independent macronodular adrenal hyperplasia 1	Likely pathogenic; Pathogenic	rs11554273, rs121913495	RCV004558264 RCV004558265 RCV004558266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis	Pathogenic; Likely pathogenic	rs797045046, rs2516794697	RCV006436695 RCV006437221	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorders of GNAS Inactivation	Likely pathogenic; Pathogenic	rs2517261214, rs587776829, rs1085307719	RCV003389351 RCV003389234 RCV003389328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs121913495	RCV006253625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs1555889131	RCV005901103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNAS-associated disease	Likely pathogenic; Pathogenic	rs2517082005	RCV005227807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNAS-related disorder	Likely pathogenic; Pathogenic	rs2146278555, rs2146285582, rs2146292463, rs2089384365, rs2146179050, rs2517296553, rs2145916888, rs797045046, rs2517269338, rs2517248665, rs2516798313, rs2517284734, rs2517296110, rs587776829, rs137854538, rs2517085749, rs2516801467, rs2517295940, rs1555891584, rs1555891595, rs774711025, rs1601162438, rs2090848106	RCV004734158 RCV004734159 RCV004531185 RCV004734244 RCV004542142 RCV004529118 RCV004536549 RCV004530088 RCV004723265 RCV004528631 RCV004534334 RCV004527838 RCV004736373 RCV004532373 RCV004545870 RCV004542660 RCV004536906 RCV004544207 RCV004537885 RCV004735684 RCV000767533 RCV004536045 RCV004734008	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 4	Pathogenic	rs137854532	RCV001729350	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2086303843	RCV001255350	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile type testicular granulosa cell tumor	Pathogenic	rs11554273	RCV006253626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
McCune-Albright syndrome	Pathogenic; Likely pathogenic	rs1555889131, rs11554273, rs121913495, rs121913494, rs587776829, rs2516973680, rs1569032751	RCV001329336 RCV000017287 RCV000017290 RCV000191995 RCV000191991 RCV005862721 RCV000017310 RCV003988604 RCV000761303	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs11554273, rs121913495	RCV000420084 RCV000430768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary adenoma 3, multiple types	Likely pathogenic; Pathogenic	rs11554273, rs121913495, rs121913494, rs137854533	RCV000508635 RCV000508670 RCV000017294 RCV000017296	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC	Pathogenic	rs11554273	RCV000017297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyostotic fibrous dysplasia, somatic, mosaic	Pathogenic	rs11554273	RCV000017298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive osseous heteroplasia	Likely pathogenic; Pathogenic	rs2146290960, rs2145916852, rs2090848106, rs2146290056, rs1601163749, rs587776829	RCV001808886 RCV001814752 RCV002273842 RCV002510563 RCV000017283 RCV000017301	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pathogenic; Likely pathogenic	rs2091380655, rs2090848106, rs2146290056, rs797045046, rs863224876, rs137854530, rs1601164378, rs1601163749, rs137854531, rs137854532, rs587776829, rs137854534, rs2145916749, rs137854538, rs2146271310, rs2146178462, rs2145916486, rs137854539, rs2146079806, rs2146305803, rs1601115231, rs1601115202, rs113029858, rs1601162438, rs2086303843, rs2089974938	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism type I A	Likely pathogenic; Pathogenic	rs2146184726, rs2145916888, rs2145916985, rs372290095, rs774895847, rs2146270332, rs2146278555, rs1555891584, rs2146285582, rs2146292463, rs2146300461, rs2146304864, rs2146305127, rs2146305299, rs2146305978, rs2146306658, rs2146211217, rs2145914268, rs2145916852, rs2146299968, rs2090848106, rs2146005656, rs1267396058, rs2146270735, rs2146209517, rs2146283488, rs2146289554, rs2517085502, rs2146178784, rs797045046, rs2146208325, rs2517227084, rs2517269338, rs2517241190, rs137854532, rs121913495, rs587776829, rs137854538, rs397514456, rs774711025, rs1601162438	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	Pathogenic	rs137854537	RCV000017309	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudopseudohypoparathyroidism	Likely pathogenic; Pathogenic	rs2146305127, rs2146183586, rs2146006354, rs2145916852, rs2146304851, rs2517296553, rs2146178784, rs797045046, rs2146182293, rs1601164378, rs1601163749, rs587776829, rs2145916749, rs137854536, rs2146271310, rs2146178462, rs2145916486, rs137854539, rs2085661524, rs1555889131, rs1569015549, rs1601162438, rs2091331588	RCV005866981 RCV001730120 RCV001814684 RCV001814752 RCV002251256 RCV002282784 RCV005930327 RCV000191090 RCV003455836 RCV000017280 RCV000017282 RCV000017302 RCV000017304 RCV000017307 RCV000017313 RCV000017315 RCV000017319 RCV000017322 RCV004577195 RCV000515760 RCV000785915 RCV003336225 RCV001289548	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sex cord-stromal tumor	Likely pathogenic; Pathogenic	rs11554273, rs121913495	RCV000017289 RCV000017293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs2146179050	RCV005922862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAFE-AU-LAIT SPOTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHOLECYSTOLITHIASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME DUE TO BILATERAL MACRONODULAR ADRENOCORTICAL DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOCRINE SYSTEM DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOGENOUS DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE-SECRETING PITUITARY ADENOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES, PARASITIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOMA CUTIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOALDOSTERONISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM TYPE 1A	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IA	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IB	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrodysostosis	Acrodysostosis	BEFREE	22723333		★☆☆☆☆ Found in Text Mining only
Acrodysostosis	Acrodysostosis	Pubtator	31041856, 9039990	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	11158006, 11254676, 1904395, 21778740, 28540626		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	CTD_human_DG	11254676		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	11254676, 16543670, 17878646, 22564667, 33752302, 34282806, 36435867, 36497102	Associate	★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	ORPHANET_DG	12727968		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	UNIPROT_DG	12727968		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	GENOMICS_ENGLAND_DG	9328353		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	BEFREE	30075949		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	29396598		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	25100368		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21775669, 22374786, 23208952, 24145653, 24470207, 24498386, 24938521, 25796395, 25867268, 27984236, 28164369, 28536037, 28776576, 31624127		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of ampulla of Vater	Adenocarcinoma	BEFREE	27132476		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	24470207		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26418953, 28776576		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11298081, 11836449, 12364467, 12641630, 14530508, 16001328, 18491255, 19189654, 19407505, 20398730, 20531296, 23208952, 26701869, 26743443, 27296931, 27438523, 27984236, 28164369, 28486603, 29474559, 30075949, 7630645		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	15181091		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	28164369		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	27606678, 30670014		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	12771991		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	12771991, 26839173		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	26188235	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25490274, 32875319	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	27296931		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24517547		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	16337659		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23530562, 31624127		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	26680582		★☆☆☆☆ Found in Text Mining only
Albright`s hereditary osteodystrophy	Albright`s Hereditary Osteodystrophy	CTD_human_DG	17299070, 2109828, 2122458, 21823526		★☆☆☆☆ Found in Text Mining only
Albright`s hereditary osteodystrophy	Albright`s Hereditary Osteodystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28084650, 9292885	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24525511		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	33395399	Associate	★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	34142482	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30569763		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23532108, 24897499, 25479586, 26646266, 30879148		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	35395698	Inhibit	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29225348		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29225348	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29225348		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23530562, 31624127		★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Mineralocortocoid excess	Pubtator	32355271	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	31409382		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	26804237		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	17020971		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	29944863		★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	26743443	Associate	★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	25940061	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	19092779, 23105121		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	22954004, 24312577	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	36715178	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	23032945	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15824158, 16033819		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	37906994	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	18634020, 30327834		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	18634020, 36652988, 9060842	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	24268734, 26248895		★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	23032945		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CTD_human_DG	12719376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	BEFREE	15070926, 15547662, 16762827, 21752878, 23796510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	Pubtator	21752878, 27871293, 40589517	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly Type E	Brachydactyly	Pubtator	40589517	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23752180, 28856726		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23752180, 25757876, 26894955, 32538432, 36424660, 36652988, 37202799	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	25490678	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23032945		★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis cutis	Calcinosis cutis	BEFREE	15817905		★☆☆☆☆ Found in Text Mining only
Calcinosis cutis	Calcinosis cutis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11075727, 29947650, 34299200, 36965665	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12771991, 17356712, 21156401, 24145653, 28776576, 31473224		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	31977320	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	9362361	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26718977	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27718288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33832503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15824158, 16033819		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24897499, 28810144, 32205290, 32696980	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31998788, 32628820	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33485313, 36780540	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20537689		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	10843907, 11583900	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	12119264, 18226729, 19494712, 21778740, 29726992		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	21525160	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	CTD_human_DG	1594625, 1944469		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	27425121	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24517547		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	17356712		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17356712, 23335286, 24186137	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	35897137, 36252869	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	10673080		★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	22954004	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	34528398	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	11092390	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	22200434, 30569763		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17020971, 18006055		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	17020971		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30616679	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24498230		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24498230, 25007176		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25007176	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16033819, 17186357, 24498230, 25683705, 26350188, 27154293, 28164369, 31531420		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20126641, 24498230, 25007176, 27756406, 30042065, 30205948, 31531420, 32733093, 35751785, 37394872	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	24470207, 24498230, 25007176		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	25594858, 34157100, 34741517, 35197096	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25693006		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	23869231	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	12656668, 16995592, 21186955, 25802348		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	30022773	Associate	★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	29726953		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16467086, 16890646, 22931242, 28051330		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Band-Shaped	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	22388798	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	19530187		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	10813107, 26743443, 30670014, 35197096	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	BEFREE	16767104, 26188235, 30670014, 31362300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing syndrome due to macronodular adrenal hyperplasia	Cushing`s Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	34963005	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	24525507		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21775669, 32792597, 35964683	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27889352		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29304778, 31409382		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19955554	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	12115881		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23863715, 28889026		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28902630	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25269528	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15894831		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15894831, 30365517	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	19092779	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34029697, 37935955	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	35672467	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	27895044		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	25530484		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	12970262, 28663568, 28889026, 29471062		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	1594625	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10980525, 11600516, 14561710, 17161328, 18796523, 23281139, 23884777, 25802881, 27431290, 8383205		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	23157623		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	32875319	Associate	★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	18559376		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	1324476, 27871293	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine System Diseases	CTD_human_DG	1594625, 1944469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine System Diseases	BEFREE	17982384, 22245114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endogenous depression	Mental Depression	PSYGENET_DG	19955554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20537689		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	34282806	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19274060, 21340746, 24986238		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19274060, 21340746, 24986238		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33457096	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10406816		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32555714	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	12952917, 15096559, 22247037, 33512531, 36593655, 36652988, 36958543, 38255009	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	40589517	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	26059403		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	10942529		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	26530882	Associate	★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	26680582		★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	19287459, 19320777		★☆☆☆☆ Found in Text Mining only
Fibrous dysplasia of bone with intramuscular myxoma	Fibrous Dysplasia Of Bone With Intramuscular Myxoma	ORPHANET_DG	22609175		★☆☆☆☆ Found in Text Mining only
Fibrous dysplasia of bone with intramuscular myxoma	Fibrous Dysplasia Of Bone With Intramuscular Myxoma	BEFREE	30653046		★☆☆☆☆ Found in Text Mining only
Fibrous Dysplasia, Monostotic	Fibrous Dysplasia	BEFREE	10535539		★☆☆☆☆ Found in Text Mining only
Fibrous Dysplasia, Monostotic	Fibrous Dysplasia	ORPHANET_DG	10535539, 10646121		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	29340017		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	25007176		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	25007176, 27154293, 30124968	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	18796523, 21186955, 30022773		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	2890163	Associate	★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	23046672		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28898516		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	1324476	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21924916		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21924916		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	38097740	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	19513951		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21274345, 27871293, 34740356	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	CTD_human_DG	11254676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	12641630, 23288882, 29396598, 29474559, 30376114, 31189769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	LHGDN	19029774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamartoma	Hamartoma	BEFREE	23337932		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	19029852		★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	CTD_human_DG	11583302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	15147378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26338779	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	26743443	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	36411698	Associate	★☆☆☆☆ Found in Text Mining only
Hyperostosis Frontalis Interna	Hyperostosis Of Skull	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	25062453	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	25062453	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	11033761, 11294659, 20807523, 23095209, 25591844, 31484825		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26188235	Associate	★☆☆☆☆ Found in Text Mining only
Hyperpotassemia and Hypertension, Familial	Hyperpotassemia And Hypertension	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	25062453	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31231124	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	12862199, 15894831, 30365517	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Resistant to Conventional Therapy	Resistant hypertension	Pubtator	23370769	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12215464, 12862199, 15531240, 15894831, 16600389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	12215464, 15479166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	9506701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	16543670, 35197096	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	18694911		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism Nonautoimmune	Hyperthyroidism	Pubtator	31910104	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11583900		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalcemia	Hypocalcemia	Pubtator	11294659	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalcemic seizures	Hypocalcemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemic tetany	Hypocalcemic tetany	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	25062453	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	35165722	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	20083154, 25403028, 25591844		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	27170606, 30060753	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	BEFREE	18796523, 21186955, 30022773		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37686237	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24030943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	11583302		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	15547662		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	40589517	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	17356712, 23335286, 24186137		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22192152		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	25843330		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24498230	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	1551195	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25326804	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10690642, 38245923	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	26418953		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24186137	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	27889352		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26418953, 33407425, 39496820	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34906185	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35013462	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	32792597	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25326804	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	17982386, 26188235		★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	BEFREE	21752878, 21910239		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	24517547		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	18295834		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23752180, 28856726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19274060, 21340746, 24986238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	27154293		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19189654, 19237173, 21677417		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20027678, 28683819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28410400		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15824158, 16033819		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12771991, 12970318, 19189654, 21340746, 21924916, 23752180, 24517547, 28856726, 29760048, 30670014, 30736805		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24498230		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mazabraud syndrome	Mazabraud Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	10535539, 10646121, 10714367, 12119264, 12199346, 12952917, 15096559, 15289771, 16264125, 16337659, 16789620, 17101633, 17388795, 17937059, 17982384, 17982386, 18166827, 18349068, 19189654, 19494712, 20887824, 22259056, 22564667, 23337932, 23365131, 23536913, 23652674, 23858622, 24525511, 24850831, 24898823, 25062453, 25248598, 25851935, 26059403, 26188235, 26680582, 27411099, 28188442, 28216128, 28741526, 29104223, 29471062, 29984378, 30442414, 30628989, 31362300, 7573148, 8699958		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McCune-Albright Syndrome	McCune-Albright Syndrome	UNIPROT_DG	10571700, 1594625, 1944469, 7751320		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McCune-Albright Syndrome	McCune-Albright Syndrome	GENOMICS_ENGLAND_DG	10673080, 12970318, 1944469		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McCune-Albright Syndrome	McCune-Albright Syndrome	CLINVAR_DG	11029463, 15126527, 17493233, 23536913, 8699958		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McCune-Albright Syndrome	McCune-Albright Syndrome	CTD_human_DG	1594625, 18345393, 1944469		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McCune-Albright Syndrome	McCune-Albright Syndrome	ORPHANET_DG	1594625, 1944469		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
McCune-Albright syndrome	McCune-Albright Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	BEFREE	24517547, 25150496		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25150496, 25940061, 31624069, 32380172, 36941703	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14726712, 21156401, 23640210		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21156401	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	11583302		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15547662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	17062894, 25269528		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25269528	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16600389		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	17388805		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	LHGDN	17388805		★☆☆☆☆ Found in Text Mining only
Monostotic fibrous dysplasia	Monostotic Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	23403822, 24145653, 24898823, 24925222, 25683705, 25796395, 25840541, 26160192, 28776576, 31491041		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	19826830		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10980525, 11600516, 14561710, 17161328, 18796523, 23281139, 23884777, 25802881, 27431290, 8383205		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	17388795		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	11158006, 17388795, 18226729		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	35197096	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21714648, 24795070		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34620690	Associate	★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	22593505, 30653046		★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	BEFREE	19494712		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11254676, 12771991, 16467086, 16767104, 17594522, 18559376, 19890024, 19945021, 20027678, 22259056, 22374786, 23335286, 23403822, 23530562, 23652674, 24014458, 24170100, 24268734, 24367530, 24498230, 24498386, 24525511, 24897499, 24925222, 24938521, 25150496, 25274248, 25683705, 25796395, 25851935, 25940061, 26362254, 27514845, 27647802, 27718288, 28160572, 28540626, 28776576, 29474559, 30111377, 30124968, 30142336, 30458197, 30670014, 30671724, 31025231, 31375767, 31583543, 9676841		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	21835143, 25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	29340017		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12771991, 20862257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	20862257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	23034519	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	12771991		★☆☆☆☆ Found in Text Mining only
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	BEFREE	14726712		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	19169048		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22371153, 23201296		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12970262, 15531240, 17062894, 23548772, 25802348, 28453643, 28663568, 28889026, 29693731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	17062894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	24030943, 27871293, 28453643, 29693731, 30365517, 37329217	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	18796523, 29693731		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	30373665		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	BEFREE	26059403		★☆☆☆☆ Found in Text Mining only
Ossifying fibroma of the jaw	Ossifying fibroma of the jaw	BEFREE	23503642		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	LHGDN	12756386		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	12952917, 13678786, 15096559, 18597624, 20841428, 20887824, 24012779, 30327834, 30496606		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28128478		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	24525511		★☆☆☆☆ Found in Text Mining only
Osteoma	Osteoma	LHGDN	18806481		★☆☆☆☆ Found in Text Mining only
Osteoma	Osteoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	16337659		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31148202		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32271406	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26248895, 29268950		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26574629	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	28216128		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	38097740, 39595984	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28216128	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	BEFREE	21775669, 22859495, 23442735, 24525507, 27514845		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	21775669, 22859495, 26253305, 28970292	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25479586, 25530484, 30879148		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23530562, 24170100, 24498386, 28188442, 28540626		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22226782, 24136929, 24293293, 31070037, 31852070, 32205290, 34674710	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	24897499	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28423545		★☆☆☆☆ Found in Text Mining only
Parapsoriasis	Parapsoriasis	BEFREE	12115881		★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	20444925	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	32711552	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	27154293, 27502722, 32166754	Associate	★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	23337932		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	12771991		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	39536727	Associate	★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	BEFREE	18089698, 21550946		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	11836449, 20507346		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
PITUITARY ADENOMA 3, MULTIPLE TYPES	Pituitary adenoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	1358601, 1594625, 19029774, 1944469, 27506760, 33752302, 36161330	Associate	★☆☆☆☆ Found in Text Mining only
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC	PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	34469896	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17062894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	23782334		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	ORPHANET_DG	10535539, 10646121		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	BEFREE	10646121, 12756386, 29104223		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	LHGDN	12199346, 17937059		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	CTD_human_DG	1594625, 18345393, 1944469		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	BEFREE	25007176		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	LHGDN	15126527, 17982386		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	15289771, 17101633, 17982386, 24012779, 29104223		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	CTD_human_DG	1594625, 1944469		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypercortisolism	Hypercortisolism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	23412865		★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	18491255		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	11583302		★☆☆☆☆ Found in Text Mining only
Progressive osseous heteroplasia	Osseous Heteroplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prolactinoma	Prolactinoma	BEFREE	19890024		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10942529, 19189654, 19237173, 21677417		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19189654		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19189654, 24741584	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	12619926, 25603460, 25997889, 26479409, 28084650, 32436958, 33180333, 33247854, 34791361, 35296306, 35859320, 40490796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism	Pseudohypoaldosteronism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	10094437, 11095461, 11294659, 11588148, 11600516, 11788646, 12619926, 12621129, 14671404, 15711092, 16789629, 16831926, 16995592, 17405843, 17595244, 18182455, 18372789, 1904395, 19381884, 19858129, 20061437, 20083154, 20427508, 20738794, 21351142, 21488135, 21521295, 21752878, 22300135, 22492776, 22612068, 22674477, 22679513, 22730013, 23076042, 23281139, 23392091, 23796510, 24127307, 24651309, 24878042, 24914079, 25005734, 25005735, 25044890, 25100368, 25464124, 25594858, 25603460, 25802348, 25843330, 26387561, 26488942, 26763073, 26819647, 27109785, 27428667, 27467896, 27871293, 27995443, 29125274, 29136292, 29280743, 30458061, 30905746, 31215057, 31555217, 9707596, 9876352		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	11092389, 11092390, 11294659, 11784876, 12619926, 12624854, 12970263, 14561710, 15800843, 18089698, 18250541, 18553568, 19900597, 20008020, 20061437, 20443919, 20444925, 20965295, 20972248, 2109828, 21274302, 21274345, 21488135, 21523828, 21651393, 22679513, 23087324, 23281139, 23814007, 23884777, 24030943, 24423294, 24798356, 24914079, 25005734, 25005735, 25403028, 25464124, 25594858, 25603460, 25997889, 26479409, 26709970, 26819647, 27425121, 27467896, 27871293, 27922245, 28084650, 28453643, 28711660, 29059381, 29445425, 29693731, 30060753, 30616679, 30962325, 31041856, 31860119, 31886927, 31892351, 31977320, 32436958, 32481259, 32647264, 32715645, 33180333, 33247854, 33663571, 34327978, 34477200, 34740356, 34791361, 35104666, 35296306, 35871092, 35927642, 36669868, 36833251, 37440712, 37906994, 38017366, 40251565, 7523385, 7847374, 7853365, 8702665, 9039990, 9447300, 9727013	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	LHGDN	11926205, 12374764, 12619926, 12621129, 12858292, 12970263, 12970307, 15537666, 15711092, 16789627, 16789628, 16789629, 17161328, 17595244, 17962410		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	CTD_human_DG	17299070, 21823526, 9506752		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	19858129, 2109828, 21351142, 2890163, 9138150	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	BEFREE	12119276, 12858292, 15331575, 20008020, 21836370, 23144470, 23649963, 25005734, 28902630, 29445425, 30616679		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	Pubtator	12619926, 12858292, 19092779, 21752878, 21836370, 25710380, 27170606, 28453643, 28902630, 29417303, 29445425, 30616679, 30905746, 34157100, 34741517, 35104666, 35859320, 40490796	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	CTD_human_DG	21836370		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism type 1B	Pseudohypoparathyroidism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	BEFREE	11788646, 21488135, 24878042		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	UNIPROT_DG	21488135		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	Pubtator	21488135	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	GENOMICS_ENGLAND_DG	28453643		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism type 1C	Pseudohypoparathyroidism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	10097123, 10487696, 11029463, 11033761, 11092389, 11092391, 11294659, 11588148, 11600516, 11720871, 11788646, 11926205, 12147228, 12407707, 12541184, 12619926, 12621129, 12624854, 12656668, 12970262, 14723729, 1505964, 15070926, 15331575, 15547662, 15579741, 15711092, 15817905, 16099856, 16789630, 17164301, 17299070, 17405843, 17652219, 18089698, 18250541, 18372789, 18394017, 18553568, 1904395, 19381884, 19530187, 19658058, 19856255, 19863504, 19900597, 20008020, 20061437, 20427508, 20538864, 20738794, 20803660, 20837711, 21274302, 21340160, 21351142, 21488135, 21550946, 21747923, 21816789, 22277900, 22300135, 22612068, 22674477, 22679513, 22730013, 23281139, 23392091, 23412865, 23796510, 23884777, 24945424, 25219572, 25464124, 25502941, 25591844, 25594858, 25761574, 25802348, 25851935, 25894639, 27995443, 28453643, 28694163, 28711660, 28889026, 29059381, 29320763, 29445425, 29499646, 29693731, 30060753, 30616679, 31696922, 7815417, 8699958, 9707596, 9860993, 9876352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	CLINVAR_DG	11092390, 21525160, 23533243, 25802881, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	UNIPROT_DG	11450852, 11600516, 12624854, 15817905, 21488135, 7523385, 8388883, 8702665, 9159128, 9328353, 9727013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	CTD_human_DG	17299070, 21823526, 9506752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	GENOMICS_ENGLAND_DG	26267576, 27922245, 28453643, 9328353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	11029463, 11033761, 11067869, 11294659, 11406605, 11588148, 12374764, 12843141, 14561710, 15537666, 15592469, 15800843, 16831926, 17405843, 17651445, 18372789, 18617581, 20008020, 20061437, 20427744, 20444925, 20538864, 20642365, 20807523, 20960161, 20972248, 21351142, 21523828, 22300135, 22378814, 22674477, 22679513, 23087324, 23095209, 23132697, 23392091, 24127307, 25403028, 25710380, 25843330, 25851935, 26479409, 27170606, 28084650, 28453643, 28711660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	CTD_human_DG	17299070, 21823526, 9506752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	GENOMICS_ENGLAND_DG	28453643, 9328353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	10487696, 11294659, 11588148, 11600516, 12541184, 12621129, 15711092, 20427508, 21521295, 22679513, 23281139, 23884777, 24127307, 24651309, 25464124, 25603460, 25851935, 27995443, 29059381, 9876352		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	CLINVAR_DG	11092390, 21525160, 23533243, 25802881, 26633545, 9727013		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	CTD_human_DG	9506752		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Psoriasis	Psoriasis	Pubtator	37935955	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35960497	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39344484	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16890646, 22931242, 28051330		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	CTD_human_DG	9506701		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26341786	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	39379998	Associate	★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	31186545		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	27889352		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29804209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	16406317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16406317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16406317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	31277073		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	15289771		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	30111377		★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	CTD_human_DG	11254676		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	25843330		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	26178427		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24145653, 31624127		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	18347176		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20027678, 28683819		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	25867268, 34674710	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20027678, 28683819, 34268625	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	23412865, 25403028		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	27895044		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	15824158		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	25762640	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	CTD_human_DG	1594625, 1944469		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	15147378, 32647264	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	19513951		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28410400		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	20714830		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	12858292, 18553568, 25464124, 30616679, 35296306, 40490796	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	18796523, 21186955		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18694911		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23858622, 28410400, 7630645, 7725741, 8699958		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15080771, 1594625, 16381821, 23979959, 27500488, 28410400	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	18349068	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis due to pituitary thyroid hormone resistance	Thyrotoxicosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	15147378	Associate	★☆☆☆☆ Found in Text Mining only
Toxic multinodular goiter	Toxic Goiter	BEFREE	19826830, 20336923		★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19697584		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	23105121		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	24915162	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	26488942		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	27895044		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23335286	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	19078957, 21828154, 36576731	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	37906994	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	27895044	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30671724	Associate	★☆☆☆☆ Found in Text Mining only