SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6654
• Gene name: SOS Ras/Rac guanine nucleotide exchange factor 1
• Gene symbol: SOS1
• Synonyms (NCBI Gene): GF1, GGF1, GINGF, HGF, NS4, SOS-1
• Chromosome: 2
• Chromosome location: 2p22.1
• Summary: This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins.

SNPs Show/Hide all (57)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852812	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852813	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs137852814	T>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs138459502	G>A,C	Uncertain-significance, likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs139290271	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141594736	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs143962515	T>C	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs188849286	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs200786705	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs201085754	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201982464	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs202043599	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267607079	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs267607080	A>G	Pathogenic	Coding sequence variant, missense variant
rs369277679	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs387906518	->G	Pathogenic	Coding sequence variant, frameshift variant
rs397517146	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397517147	C>T	Pathogenic	Coding sequence variant, missense variant
rs397517148	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs397517149	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397517150	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397517153	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397517154	C>A,G,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397517156	T>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397517159	C>T	Pathogenic	Coding sequence variant, missense variant
rs397517163	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397517164	C>T	Pathogenic	Coding sequence variant, missense variant
rs397517166	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397517172	T>C	Pathogenic	Coding sequence variant, missense variant
rs397517174	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397517177	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397517180	C>A	Pathogenic	Coding sequence variant, missense variant
rs574088829	T>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs727503436	AAAAA>-,AAA,AAAA,AAAAAA	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727504295	C>T	Pathogenic	Missense variant, coding sequence variant
rs727505093	A>C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs727505381	A>G	Pathogenic	Missense variant, coding sequence variant
rs730881034	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs730881043	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881044	T>C	Pathogenic	Missense variant, coding sequence variant
rs730881045	A>T	Pathogenic	Missense variant, coding sequence variant
rs730881046	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881048	CC>TT	Pathogenic	Missense variant, coding sequence variant
rs730881054	A>C,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs772823827	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs786205522	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886041923	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057517861	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517918	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519963	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553353452	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553354396	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553356111	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553362937	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558474706	G>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1572830219	CTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1572830693	AA>TC	Likely-pathogenic	Coding sequence variant, missense variant

miRNA Show/Hide all (522)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046240	hsa-miR-23b-3p	CLASH	23622248
MIRT437439	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23817964
MIRT699017	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT699016	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT699015	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT699014	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699013	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT699012	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT699011	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT699010	hsa-miR-196b-3p	HITS-CLIP	23313552
MIRT088625	hsa-miR-4325	HITS-CLIP	23313552
MIRT699009	hsa-miR-1178-3p	HITS-CLIP	23313552
MIRT699008	hsa-miR-548an	HITS-CLIP	23313552
MIRT699007	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT699006	hsa-miR-4801	HITS-CLIP	23313552
MIRT699005	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT699004	hsa-miR-4643	HITS-CLIP	23313552
MIRT236655	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699003	hsa-miR-466	HITS-CLIP	23313552
MIRT236646	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT699002	hsa-miR-5089-3p	HITS-CLIP	23313552
MIRT494978	hsa-miR-5571-5p	PAR-CLIP	23708386
MIRT494976	hsa-miR-6715a-3p	PAR-CLIP	23708386
MIRT494977	hsa-miR-4691-3p	PAR-CLIP	23708386
MIRT494975	hsa-miR-3157-5p	PAR-CLIP	23708386
MIRT731133	hsa-miR-146a-5p	Western blot, Luciferase reporter assay	25469565
MIRT731133	hsa-miR-146a-5p	Western blot, Luciferase reporter assay	25469565
MIRT699017	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT699016	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT699015	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT699014	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699013	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT699012	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT699011	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT699010	hsa-miR-196b-3p	HITS-CLIP	23313552
MIRT088625	hsa-miR-4325	HITS-CLIP	23313552
MIRT699009	hsa-miR-1178-3p	HITS-CLIP	23313552
MIRT699008	hsa-miR-548an	HITS-CLIP	23313552
MIRT699007	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT699006	hsa-miR-4801	HITS-CLIP	23313552
MIRT699005	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT699004	hsa-miR-4643	HITS-CLIP	23313552
MIRT236655	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699003	hsa-miR-466	HITS-CLIP	23313552
MIRT236646	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT699002	hsa-miR-5089-3p	HITS-CLIP	23313552
MIRT494978	hsa-miR-5571-5p	PAR-CLIP	23708386
MIRT494976	hsa-miR-6715a-3p	PAR-CLIP	23708386
MIRT494977	hsa-miR-4691-3p	PAR-CLIP	23708386
MIRT494975	hsa-miR-3157-5p	PAR-CLIP	23708386
MIRT1379860	hsa-miR-1178	CLIP-seq
MIRT1379861	hsa-miR-1236	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT1379863	hsa-miR-1269	CLIP-seq
MIRT1379864	hsa-miR-1269b	CLIP-seq
MIRT1379865	hsa-miR-128	CLIP-seq
MIRT1379866	hsa-miR-1287	CLIP-seq
MIRT1379867	hsa-miR-1288	CLIP-seq
MIRT1379868	hsa-miR-1299	CLIP-seq
MIRT1379869	hsa-miR-155	CLIP-seq
MIRT1379870	hsa-miR-1976	CLIP-seq
MIRT1379871	hsa-miR-200b	CLIP-seq
MIRT1379872	hsa-miR-200c	CLIP-seq
MIRT1379873	hsa-miR-203	CLIP-seq
MIRT1379874	hsa-miR-23a	CLIP-seq
MIRT1379875	hsa-miR-23b	CLIP-seq
MIRT1379876	hsa-miR-23c	CLIP-seq
MIRT1379877	hsa-miR-24	CLIP-seq
MIRT1379878	hsa-miR-2681	CLIP-seq
MIRT1379879	hsa-miR-27a	CLIP-seq
MIRT1379880	hsa-miR-27b	CLIP-seq
MIRT1379881	hsa-miR-2861	CLIP-seq
MIRT1379882	hsa-miR-297	CLIP-seq
MIRT1379883	hsa-miR-299-3p	CLIP-seq
MIRT1379884	hsa-miR-3065-5p	CLIP-seq
MIRT1379885	hsa-miR-30a	CLIP-seq
MIRT1379886	hsa-miR-30b	CLIP-seq
MIRT1379887	hsa-miR-30c	CLIP-seq
MIRT1379888	hsa-miR-30d	CLIP-seq
MIRT1379889	hsa-miR-30e	CLIP-seq
MIRT1379890	hsa-miR-3117-5p	CLIP-seq
MIRT1379891	hsa-miR-3135b	CLIP-seq
MIRT1379892	hsa-miR-3149	CLIP-seq
MIRT1379893	hsa-miR-3163	CLIP-seq
MIRT1379894	hsa-miR-3173-3p	CLIP-seq
MIRT1379895	hsa-miR-3182	CLIP-seq
MIRT1379896	hsa-miR-3187-3p	CLIP-seq
MIRT1379897	hsa-miR-325	CLIP-seq
MIRT1379898	hsa-miR-3607-3p	CLIP-seq
MIRT1379899	hsa-miR-3607-5p	CLIP-seq
MIRT1379900	hsa-miR-3662	CLIP-seq
MIRT1379901	hsa-miR-3686	CLIP-seq
MIRT1379902	hsa-miR-370	CLIP-seq
MIRT1379903	hsa-miR-378	CLIP-seq
MIRT1379904	hsa-miR-378b	CLIP-seq
MIRT1379905	hsa-miR-378c	CLIP-seq
MIRT1379906	hsa-miR-378d	CLIP-seq
MIRT1379907	hsa-miR-378e	CLIP-seq
MIRT1379908	hsa-miR-378f	CLIP-seq
MIRT1379909	hsa-miR-378h	CLIP-seq
MIRT1379910	hsa-miR-378i	CLIP-seq
MIRT1379911	hsa-miR-382	CLIP-seq
MIRT1379912	hsa-miR-3973	CLIP-seq
MIRT1379913	hsa-miR-421	CLIP-seq
MIRT1379914	hsa-miR-422a	CLIP-seq
MIRT1379915	hsa-miR-4263	CLIP-seq
MIRT1379916	hsa-miR-4265	CLIP-seq
MIRT1379917	hsa-miR-4272	CLIP-seq
MIRT1379918	hsa-miR-4275	CLIP-seq
MIRT1379919	hsa-miR-4277	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT1379921	hsa-miR-4284	CLIP-seq
MIRT1379922	hsa-miR-429	CLIP-seq
MIRT1379923	hsa-miR-4296	CLIP-seq
MIRT1379924	hsa-miR-4307	CLIP-seq
MIRT1379925	hsa-miR-4322	CLIP-seq
MIRT1379926	hsa-miR-433	CLIP-seq
MIRT1379927	hsa-miR-4417	CLIP-seq
MIRT1379928	hsa-miR-4434	CLIP-seq
MIRT1379929	hsa-miR-4435	CLIP-seq
MIRT1379930	hsa-miR-4484	CLIP-seq
MIRT1379931	hsa-miR-4515	CLIP-seq
MIRT1379932	hsa-miR-4516	CLIP-seq
MIRT1379933	hsa-miR-4638-3p	CLIP-seq
MIRT1379934	hsa-miR-4645-3p	CLIP-seq
MIRT1379935	hsa-miR-4648	CLIP-seq
MIRT1379936	hsa-miR-4650-5p	CLIP-seq
MIRT1379937	hsa-miR-4654	CLIP-seq
MIRT1379938	hsa-miR-4666-5p	CLIP-seq
MIRT1379939	hsa-miR-4668-5p	CLIP-seq
MIRT1379940	hsa-miR-4680-5p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379942	hsa-miR-4701-5p	CLIP-seq
MIRT1379943	hsa-miR-4704-5p	CLIP-seq
MIRT1379944	hsa-miR-4715-5p	CLIP-seq
MIRT1379945	hsa-miR-4719	CLIP-seq
MIRT1379946	hsa-miR-4720-3p	CLIP-seq
MIRT1379947	hsa-miR-4722-3p	CLIP-seq
MIRT1379948	hsa-miR-4740-5p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT1379950	hsa-miR-4755-3p	CLIP-seq
MIRT1379951	hsa-miR-4763-5p	CLIP-seq
MIRT1379952	hsa-miR-4768-5p	CLIP-seq
MIRT1379953	hsa-miR-4769-5p	CLIP-seq
MIRT1379954	hsa-miR-4779	CLIP-seq
MIRT1379955	hsa-miR-4782-5p	CLIP-seq
MIRT1379956	hsa-miR-4786-3p	CLIP-seq
MIRT1379957	hsa-miR-4796-5p	CLIP-seq
MIRT1379958	hsa-miR-4799-5p	CLIP-seq
MIRT1379959	hsa-miR-4802-3p	CLIP-seq
MIRT1379960	hsa-miR-4804-3p	CLIP-seq
MIRT1379961	hsa-miR-5096	CLIP-seq
MIRT1379962	hsa-miR-513b	CLIP-seq
MIRT1379963	hsa-miR-514	CLIP-seq
MIRT1379964	hsa-miR-514b-3p	CLIP-seq
MIRT1379965	hsa-miR-516b	CLIP-seq
MIRT1379966	hsa-miR-520d-5p	CLIP-seq
MIRT1379967	hsa-miR-524-5p	CLIP-seq
MIRT1379968	hsa-miR-548k	CLIP-seq
MIRT1379969	hsa-miR-548l	CLIP-seq
MIRT1379970	hsa-miR-548n	CLIP-seq
MIRT1379971	hsa-miR-548s	CLIP-seq
MIRT1379972	hsa-miR-550a	CLIP-seq
MIRT1379973	hsa-miR-567	CLIP-seq
MIRT1379974	hsa-miR-576-5p	CLIP-seq
MIRT1379975	hsa-miR-579	CLIP-seq
MIRT1379976	hsa-miR-583	CLIP-seq
MIRT1379977	hsa-miR-584	CLIP-seq
MIRT1379978	hsa-miR-587	CLIP-seq
MIRT1379979	hsa-miR-588	CLIP-seq
MIRT1379980	hsa-miR-628-3p	CLIP-seq
MIRT1379981	hsa-miR-656	CLIP-seq
MIRT1379982	hsa-miR-660	CLIP-seq
MIRT1379983	hsa-miR-668	CLIP-seq
MIRT1379984	hsa-miR-877	CLIP-seq
MIRT1379985	hsa-miR-9	CLIP-seq
MIRT1553942	hsa-miR-4803	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113531	hsa-miR-1238	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT2113533	hsa-miR-1271	CLIP-seq
MIRT1379865	hsa-miR-128	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113535	hsa-miR-129-5p	CLIP-seq
MIRT2113536	hsa-miR-1305	CLIP-seq
MIRT2113537	hsa-miR-140-3p	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT2113546	hsa-miR-182	CLIP-seq
MIRT2113547	hsa-miR-1910	CLIP-seq
MIRT2113548	hsa-miR-204	CLIP-seq
MIRT2113549	hsa-miR-211	CLIP-seq
MIRT2113550	hsa-miR-217	CLIP-seq
MIRT1379879	hsa-miR-27a	CLIP-seq
MIRT1379880	hsa-miR-27b	CLIP-seq
MIRT1379884	hsa-miR-3065-5p	CLIP-seq
MIRT2113551	hsa-miR-3124-3p	CLIP-seq
MIRT2113552	hsa-miR-3126-3p	CLIP-seq
MIRT2113553	hsa-miR-3128	CLIP-seq
MIRT2113554	hsa-miR-3129-3p	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT1379895	hsa-miR-3182	CLIP-seq
MIRT2113558	hsa-miR-3185	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113561	hsa-miR-3198	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113563	hsa-miR-3591-3p	CLIP-seq
MIRT2113564	hsa-miR-3591-5p	CLIP-seq
MIRT2113565	hsa-miR-3622b-5p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT2113567	hsa-miR-369-3p	CLIP-seq
MIRT2113568	hsa-miR-374a	CLIP-seq
MIRT2113569	hsa-miR-374b	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT2113573	hsa-miR-410	CLIP-seq
MIRT1379913	hsa-miR-421	CLIP-seq
MIRT2113574	hsa-miR-4255	CLIP-seq
MIRT2113575	hsa-miR-4260	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT2113578	hsa-miR-4283	CLIP-seq
MIRT2113579	hsa-miR-4309	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113581	hsa-miR-4418	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113585	hsa-miR-4489	CLIP-seq
MIRT2113586	hsa-miR-4493	CLIP-seq
MIRT2113587	hsa-miR-4496	CLIP-seq
MIRT2113588	hsa-miR-4635	CLIP-seq
MIRT1379933	hsa-miR-4638-3p	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT2113590	hsa-miR-4653-3p	CLIP-seq
MIRT2113591	hsa-miR-4658	CLIP-seq
MIRT2113592	hsa-miR-4659a-3p	CLIP-seq
MIRT2113593	hsa-miR-4659b-3p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT2113594	hsa-miR-4709-3p	CLIP-seq
MIRT2113595	hsa-miR-4720-5p	CLIP-seq
MIRT1379947	hsa-miR-4722-3p	CLIP-seq
MIRT2113596	hsa-miR-4724-5p	CLIP-seq
MIRT2113597	hsa-miR-4735-5p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT1379950	hsa-miR-4755-3p	CLIP-seq
MIRT2113598	hsa-miR-4758-5p	CLIP-seq
MIRT2113599	hsa-miR-4764-3p	CLIP-seq
MIRT2113600	hsa-miR-4766-5p	CLIP-seq
MIRT2113601	hsa-miR-4775	CLIP-seq
MIRT2113602	hsa-miR-4796-3p	CLIP-seq
MIRT2113603	hsa-miR-4797-5p	CLIP-seq
MIRT2113604	hsa-miR-4799-3p	CLIP-seq
MIRT1379958	hsa-miR-4799-5p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2113606	hsa-miR-509-3-5p	CLIP-seq
MIRT2113607	hsa-miR-509-5p	CLIP-seq
MIRT2113608	hsa-miR-513a-5p	CLIP-seq
MIRT1379966	hsa-miR-520d-5p	CLIP-seq
MIRT1379967	hsa-miR-524-5p	CLIP-seq
MIRT2113609	hsa-miR-548a-3p	CLIP-seq
MIRT2113610	hsa-miR-548ae	CLIP-seq
MIRT2113611	hsa-miR-548aj	CLIP-seq
MIRT2113612	hsa-miR-548am	CLIP-seq
MIRT2113613	hsa-miR-548e	CLIP-seq
MIRT2113614	hsa-miR-548f	CLIP-seq
MIRT2113615	hsa-miR-548g	CLIP-seq
MIRT1379969	hsa-miR-548l	CLIP-seq
MIRT2113616	hsa-miR-548x	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT1379978	hsa-miR-587	CLIP-seq
MIRT2113618	hsa-miR-590-3p	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113620	hsa-miR-624	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT1379981	hsa-miR-656	CLIP-seq
MIRT2113623	hsa-miR-764	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT2113625	hsa-miR-885-3p	CLIP-seq
MIRT2113626	hsa-miR-889	CLIP-seq
MIRT2113627	hsa-miR-942	CLIP-seq
MIRT2113628	hsa-miR-944	CLIP-seq
MIRT2113629	hsa-miR-96	CLIP-seq
MIRT2336540	hsa-miR-101	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT1379865	hsa-miR-128	CLIP-seq
MIRT1379866	hsa-miR-1287	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113537	hsa-miR-140-3p	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2336541	hsa-miR-151-3p	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT1379871	hsa-miR-200b	CLIP-seq
MIRT1379872	hsa-miR-200c	CLIP-seq
MIRT2113548	hsa-miR-204	CLIP-seq
MIRT2113549	hsa-miR-211	CLIP-seq
MIRT2113550	hsa-miR-217	CLIP-seq
MIRT1379879	hsa-miR-27a	CLIP-seq
MIRT1379880	hsa-miR-27b	CLIP-seq
MIRT1379881	hsa-miR-2861	CLIP-seq
MIRT1379884	hsa-miR-3065-5p	CLIP-seq
MIRT1379885	hsa-miR-30a	CLIP-seq
MIRT1379886	hsa-miR-30b	CLIP-seq
MIRT1379887	hsa-miR-30c	CLIP-seq
MIRT1379888	hsa-miR-30d	CLIP-seq
MIRT1379889	hsa-miR-30e	CLIP-seq
MIRT1379890	hsa-miR-3117-5p	CLIP-seq
MIRT1379891	hsa-miR-3135b	CLIP-seq
MIRT2336542	hsa-miR-3143	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT2113558	hsa-miR-3185	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113561	hsa-miR-3198	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113564	hsa-miR-3591-5p	CLIP-seq
MIRT1379898	hsa-miR-3607-3p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT1379901	hsa-miR-3686	CLIP-seq
MIRT1379902	hsa-miR-370	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2336543	hsa-miR-3920	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT1379912	hsa-miR-3973	CLIP-seq
MIRT2336544	hsa-miR-3974	CLIP-seq
MIRT2113573	hsa-miR-410	CLIP-seq
MIRT2113574	hsa-miR-4255	CLIP-seq
MIRT2113575	hsa-miR-4260	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT1379919	hsa-miR-4277	CLIP-seq
MIRT2113578	hsa-miR-4283	CLIP-seq
MIRT2336545	hsa-miR-4289	CLIP-seq
MIRT1379922	hsa-miR-429	CLIP-seq
MIRT2113579	hsa-miR-4309	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113581	hsa-miR-4418	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113585	hsa-miR-4489	CLIP-seq
MIRT2113587	hsa-miR-4496	CLIP-seq
MIRT2113588	hsa-miR-4635	CLIP-seq
MIRT1379933	hsa-miR-4638-3p	CLIP-seq
MIRT1379936	hsa-miR-4650-5p	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT2113590	hsa-miR-4653-3p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379943	hsa-miR-4704-5p	CLIP-seq
MIRT2113594	hsa-miR-4709-3p	CLIP-seq
MIRT1379947	hsa-miR-4722-3p	CLIP-seq
MIRT2336546	hsa-miR-4760-3p	CLIP-seq
MIRT2113599	hsa-miR-4764-3p	CLIP-seq
MIRT2336547	hsa-miR-4773	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2336548	hsa-miR-495	CLIP-seq
MIRT2113606	hsa-miR-509-3-5p	CLIP-seq
MIRT2113607	hsa-miR-509-5p	CLIP-seq
MIRT1379961	hsa-miR-5096	CLIP-seq
MIRT2336549	hsa-miR-511	CLIP-seq
MIRT2336550	hsa-miR-512-3p	CLIP-seq
MIRT2336551	hsa-miR-543	CLIP-seq
MIRT2113609	hsa-miR-548a-3p	CLIP-seq
MIRT2113613	hsa-miR-548e	CLIP-seq
MIRT2113614	hsa-miR-548f	CLIP-seq
MIRT2113615	hsa-miR-548g	CLIP-seq
MIRT1379969	hsa-miR-548l	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT1379977	hsa-miR-584	CLIP-seq
MIRT1379978	hsa-miR-587	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113620	hsa-miR-624	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT1379981	hsa-miR-656	CLIP-seq
MIRT1379982	hsa-miR-660	CLIP-seq
MIRT2336552	hsa-miR-664	CLIP-seq
MIRT2113623	hsa-miR-764	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT1379984	hsa-miR-877	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT2433364	hsa-miR-451	CLIP-seq
MIRT2433365	hsa-miR-4766-3p	CLIP-seq
MIRT2433366	hsa-miR-548p	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT2630370	hsa-miR-1263	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113535	hsa-miR-129-5p	CLIP-seq
MIRT2630371	hsa-miR-1323	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113563	hsa-miR-3591-3p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT2113575	hsa-miR-4260	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT2113578	hsa-miR-4283	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113585	hsa-miR-4489	CLIP-seq
MIRT2113586	hsa-miR-4493	CLIP-seq
MIRT2113587	hsa-miR-4496	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2630372	hsa-miR-548o	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2630373	hsa-miR-642b	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT2113627	hsa-miR-942	CLIP-seq
MIRT2113628	hsa-miR-944	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT2113535	hsa-miR-129-5p	CLIP-seq
MIRT2630371	hsa-miR-1323	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113563	hsa-miR-3591-3p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113586	hsa-miR-4493	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT1379963	hsa-miR-514	CLIP-seq
MIRT1379964	hsa-miR-514b-3p	CLIP-seq
MIRT2630372	hsa-miR-548o	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2630373	hsa-miR-642b	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT2113627	hsa-miR-942	CLIP-seq
MIRT2113628	hsa-miR-944	CLIP-seq

Gene ontology (GO) Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	1371879, 7731718, 16483568
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	1371879
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	8493579, 9790532
GO:0005096	Function	GTPase activator activity	TAS	9790532
GO:0005154	Function	Epidermal growth factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	7527391, 7629138, 7773779, 9020117, 9447984, 9544989, 9569023, 9690470, 10026169, 10206341, 12029088, 12482578, 12577067, 12628188, 14679214, 15507210, 16520382, 17084389, 17141806, 17474147, 17515907, 18454158, 19141281, 19323566, 19380743, 19464300, 20133692, 20473329, 21706016, 21
GO:0005737	Component	Cytoplasm	IDA	17515907
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	23027131
GO:0007165	Process	Signal transduction	NAS	8493579
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	24854121
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	8663461
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IDA	23027131
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	TAS	8493579
GO:0007296	Process	Vitellogenesis	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042110	Process	T cell activation	IDA	7737275
GO:0042127	Process	Regulation of cell population proliferation	IDA	9054499
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042552	Process	Myelination	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0050900	Process	Leukocyte migration	TAS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0061384	Process	Heart trabecula morphogenesis	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	27056844
GO:1904693	Process	Midbrain morphogenesis	IEA
GO:1905360	Component	GTPase complex	IPI	25695162
GO:2000973	Process	Regulation of pro-B cell differentiation	IEA

Other IDs

• MIM: 182530
• HGNC: 11187
• e!Ensembl: ENSG00000115904

Protein

• UniProt ID: Q07889
• Protein name: Son of sevenless homolog 1 (SOS-1)
• Protein function: Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that partici
• PDB: 1AWE , 1BKD , 1DBH , 1NVU , 1NVV , 1NVW , 1NVX , 1Q9C , 1XD2 , 1XD4 , 1XDV , 2II0 , 3KSY , 4NYI , 4NYJ , 4NYM , 4URU , 4URV , 4URW , 4URX , 4URY , 4URZ , 4US0 , 4US1 , 4US2 , 5OVD , 5OVE , 5OVF , 5OVG , 5OVH , 5OVI , 5WFO , 5WFP , 5WFQ , 5WFR , 6BVI , 6BVJ , 6BVK , 6BVL , 6BVM , 6CUO , 6CUP , 6CUR , 6D55 , 6D56 , 6D59 , 6D5E , 6D5G , 6D5H , 6D5J , 6D5L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	40 → 169	Core histone H2A/H2B/H3/H4	Domain
  PF00169	PH	428 → 546	PH domain	Domain
  PF00617	RasGEF	783 → 962	RasGEF domain	Family
  PF00618	RasGEF_N	600 → 717	RasGEF N-terminal motif	Domain
  PF00621	RhoGEF	211 → 388	RhoGEF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in gingival tissues. {ECO:0000269|PubMed:11868160}.
• Sequence:

  MQAQQLPYEFFSEENAPKWRGLLVPALKKVQGQVHPTLESNDDALQYVEELILQLLNMLC
  QAQPRSASDVEERVQKSFPHPIDKWAIADAQSAIEKRKRRNPLSLPVEKIHPLLKEVLGY
  KIDHQVSVYIVAVLEYISADILKLVGNYVRNIRHYEITKQDIKVAMCADKVLMDMFHQDV
  EDINILSLTDEEPSTSGEQTYYDLVKAFMAEIRQYIRELNLIIKVFREPFVSNSKLFSAN
  DVENIFSRIVDIHELSVKLLGHIEDTVEMTDEGSPHPLVGSCFEDLAEELAFDPYESYAR
  DILRPGFHDRFLSQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHCLHYFELLKQL
  EEKSEDQEDKECLKQAITALLNVQSGMEKICSKSLAKRRLSESACRFYSQQMKGKQLAIK
  KMNEIQKNIDGWEGKDIGQCCNEFIMEGTLTRVGAKHERHIFLFDGLMICCKSNHGQPRL
  PGASNAEYRLKEKFFMRKVQINDKDDTNEYKHAFEIILKDENSVIFSAKSAEEKNNWMAA
  LISLQYRSTLERMLDVTMLQEEKEEQMRLPSADVYRFAEPDSEENIIFEENMQPKAGIPI
  IKAGTVIKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLIIERFEIPEPEPTEADR
  IAIENGDQPLSAELKRFRKEYIQPVQLRVLNVCRHWVEHHFYDFERDAYLLQRMEEFIGT
  VRGKAMKKWVESITKIIQRKKIARDNGPGHNITFQSSPPTVEWHISRPGHIETFDLLTLH
  PIEIARQLTLLESDLYRAVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIV
  ETENLEERVAVVSRIIEILQVFQELNNFNGVLEVVSAMNSSPVYRLDHTFEQIPSRQKKI
  LEEAHELSEDHYKKYLAKLRSINPPCVPFFGIYLTNILKTEEGNPEVLKRHGKELINFSK
  RRKVAEITGEIQQYQNQPYCLRVESDIKRFFENLNPMGNSMEKEFTDYLFNKSLEIEPRN
  PKPLPRFPKKYSYPLKSPGVRPSNPRPGTMRHPTPLQQEPRKISYSRIPESETESTASAP
  NSPRTPLTPPPASGASSTTDVCSVFDSDHSSPFHSSNDTVFIQVTLPHGPRSASVSSISL
  TKGTDEVPVPPPVPPRRRPESAPAESSPSKIMSKHLDSPPAIPPRQPTSKAYSPRYSISD
  RTSISDPPESPPLLPPREPVRTPDVFSSSPLHLQPPPLGKKSDHGNAFFPNSPSPFTPPP
  PQTPSPHGTRRHLPSPPLTQEVDLHSIAGPPVPPRQSTSQHIPKLPPKTYKREHTHPSMH
  RDGPPLLENAHSS

• Sequence length: 1333

Pathways

KEGG Pathway	Reactome Pathway
EGFR tyrosine kinase inhibitor resistance	SOS-mediated signalling
Endocrine resistance	Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
MAPK signaling pathway	SHC1 events in ERBB4 signaling
ErbB signaling pathway	Signaling by SCF-KIT
Ras signaling pathway	Regulation of KIT signaling
Chemokine signaling pathway	Signalling to RAS
FoxO signaling pathway	GRB2 events in EGFR signaling
Phospholipase D signaling pathway	SHC1 events in EGFR signaling
mTOR signaling pathway	Downstream signal transduction
PI3K-Akt signaling pathway	NRAGE signals death through JNK
Focal adhesion	Rho GTPase cycle
Gap junction	GRB2 events in ERBB2 signaling
JAK-STAT signaling pathway	Tie2 Signaling
Natural killer cell mediated cytotoxicity	EGFR Transactivation by Gastrin
T cell receptor signaling pathway	DAP12 signaling
B cell receptor signaling pathway	SHC-related events triggered by IGF1R
Fc epsilon RI signaling pathway	Role of LAT2/NTAL/LAB on calcium mobilization
Thermogenesis	FCERI mediated MAPK activation
Neurotrophin signaling pathway	FCERI mediated Ca+2 mobilization
Regulation of actin cytoskeleton	GRB2:SOS provides linkage to MAPK signaling for Integrins
Insulin signaling pathway	NCAM signaling for neurite out-growth
GnRH signaling pathway	G alpha (12/13) signalling events
Estrogen signaling pathway	Constitutive Signaling by EGFRvIII
Prolactin signaling pathway	SHC-mediated cascade:FGFR1
Relaxin signaling pathway	FRS-mediated FGFR1 signaling
Growth hormone synthesis, secretion and action	SHC-mediated cascade:FGFR2
Alcoholism	FRS-mediated FGFR2 signaling
Hepatitis C	SHC-mediated cascade:FGFR3
Hepatitis B	FRS-mediated FGFR3 signaling
Human cytomegalovirus infection	FRS-mediated FGFR4 signaling
Human papillomavirus infection	SHC-mediated cascade:FGFR4
Pathways in cancer	Signaling by FGFR2 in disease
Proteoglycans in cancer	Signaling by FGFR4 in disease
MicroRNAs in cancer	Signaling by FGFR1 in disease
Chemical carcinogenesis - receptor activation	RAF/MAP kinase cascade
Chemical carcinogenesis - reactive oxygen species	Signal attenuation
Colorectal cancer	Insulin receptor signalling cascade
Renal cell carcinoma	MET activates RAS signaling
Endometrial cancer	Signaling by FGFR3 fusions in cancer
Glioma	Signaling by FGFR3 point mutants in cancer
Prostate cancer	RET signaling
Chronic myeloid leukemia	Interleukin-15 signaling
Acute myeloid leukemia	Activated NTRK2 signals through FRS2 and FRS3
Non-small cell lung cancer	Interleukin receptor SHC signaling
Breast cancer	FLT3 Signaling
Hepatocellular carcinoma	Constitutive Signaling by Overexpressed ERBB2
Gastric cancer	Signaling by ERBB2 KD Mutants
Choline metabolism in cancer	Signaling by ERBB2 ECD mutants
	Signaling by ERBB2 TMD/JMD mutants
	Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
	Signaling by PDGFRA extracellular domain mutants
	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

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 Show/Hide Causal Diseases (21)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
46,XY partial gonadal dysgenesis	Likely pathogenic	rs1671229414	RCV002254534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal aortic valve morphology	Pathogenic	rs397517154	RCV000626887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal sternum morphology	Likely pathogenic; Pathogenic	rs397517148	RCV000626886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs397517150, rs137852813, rs137852814, rs397517172, rs397517148, rs397517149, rs397517153, rs397517154, rs267607079, rs397517159, rs397517146	RCV002384544 RCV002415412 RCV002399321 RCV002345263 RCV002415451 RCV004991981 RCV002381284 RCV005438354 RCV004668749 RCV002399361 RCV002399362 RCV002453285 RCV002321513 RCV002381310	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs730881054, rs397517154	RCV006253720 RCV006253721	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal cystic hygroma	Likely pathogenic; Pathogenic	rs397517148	RCV001526663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibromatosis, gingival, 1	Likely pathogenic; Pathogenic	rs730881044, rs397517150, rs137852812, rs137852814, rs267607079, rs730881054, rs397517148, rs397517149, rs397517154, rs727505381, rs397517159, rs1553354396, rs727505093	RCV003224178 RCV005025241 RCV000515403 RCV000515160 RCV000763086 RCV005025088 RCV003460541 RCV002054543 RCV000763087 RCV001335308 RCV000515298 RCV002496502 RCV000763085 RCV002248825 RCV003224124 RCV001196815	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs886041696	RCV003991599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male subfertility	Likely pathogenic; Pathogenic	rs397517150	RCV003991573	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic short statue	Pathogenic	rs137852812	RCV005865178	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal hypotonia	Pathogenic	rs397517172	RCV001526618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Likely pathogenic; Pathogenic	rs397517150, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs397517159, rs397517146, rs397517163, rs397517174, rs397517180, rs1572830693, rs2529034729, rs2529036943	RCV001261079 RCV000038570 RCV000211854 RCV000156980 RCV000156992 RCV000211853 RCV001261068 RCV000038546 RCV000038560 RCV000208414 RCV000038513 RCV000038514 RCV000154314 RCV000038515 RCV001261087 RCV000038520 RCV004017276 RCV000208093 RCV000157017 RCV000038525 RCV000156979 RCV000038531 RCV000038535 RCV000038510 RCV000038516 RCV000038544 RCV000038562 RCV000038575 RCV000826185 RCV001261089 RCV001261084	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 1	Pathogenic; Likely pathogenic	rs137852812, rs137852813, rs267607079, rs397517147, rs397517148, rs397517149, rs397517153, rs397517154, rs727505093, rs1572830219	RCV003450637 RCV000856805 RCV000856746 RCV003150936 RCV003450658 RCV000856735 RCV003450659 RCV003150937 RCV003450660 RCV000856745 RCV000856753 RCV000986623	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 3	Pathogenic; Likely pathogenic	rs397517154, rs574088829	RCV000587705 RCV000587797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 4	Likely pathogenic; Pathogenic	rs397517150, rs397517180, rs2124562542, rs730881044, rs1553362937, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs1057519963, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs574088829, rs397517159, rs1553354396, rs397517146, rs727505093, rs1668859370	RCV002468240 RCV001808257 RCV002264900 RCV003224178 RCV002467633 RCV003335797 RCV000013729 RCV000013730 RCV000013731 RCV000013732 RCV000013733 RCV003322604 RCV002467898 RCV005025088 RCV004795339 RCV001729357 RCV000487454 RCV002467509 RCV002467510 RCV001270835 RCV002467511 RCV000763087 RCV002467514 RCV002467515 RCV001507015 RCV001169984 RCV000515298 RCV002467518 RCV000495874 RCV002051800 RCV000763085 RCV006250817 RCV002467539 RCV002467540 RCV002255093 RCV003313978 RCV001200895	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome and Noonan-related syndrome	Pathogenic; Likely pathogenic	rs267607079, rs137852814, rs397517164, rs137852813, rs397517147, rs397517148, rs397517149, rs397517154, rs397517159, rs397517150, rs397517174, rs397517180, rs727505093	RCV000787998 RCV000787999 RCV001813280 RCV001813283 RCV001813285 RCV001813286 RCV001813287 RCV000787996 RCV001813288 RCV000787997 RCV001813296 RCV001813354 RCV000788003 RCV001813362 RCV000788001	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ptosis	Likely pathogenic; Pathogenic	rs397517148	RCV000626886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonic stenosis	Likely pathogenic; Pathogenic	rs397517148	RCV000626886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASopathy	Likely pathogenic; Pathogenic	rs397517150, rs137852812, rs2124596942, rs267607080, rs549952317, rs2529037375, rs2465361618, rs137852813, rs137852814, rs267607079, rs2529037917, rs757094189, rs1553362937, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs730881048, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs574088829, rs397517159, rs397517146, rs397517180	RCV001377878 RCV002015524 RCV002022149 RCV003655354 RCV001379728 RCV002933811 RCV002996470 RCV003043174 RCV000149833 RCV000554031 RCV000159174 RCV000654947 RCV000818949 RCV003540045 RCV003654654 RCV005090664 RCV000544063 RCV000545153 RCV000537356 RCV000476014 RCV000539275 RCV000467110 RCV001217212 RCV000159179 RCV000781878 RCV000534974 RCV000654915 RCV001381689 RCV000550001 RCV000685882 RCV000528274 RCV001062868 RCV000149832 RCV000817385 RCV001045366 RCV001233419 RCV000471633 RCV000821113 RCV000474085 RCV001852808	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature	Likely pathogenic; Pathogenic	rs397517148	RCV000626886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SOS1-related disorder	Pathogenic; Likely pathogenic	rs397517172, rs397517153, rs397517154, rs574088829, rs397517159	RCV003914900 RCV003398589 RCV003390718 RCV003407395 RCV003421942	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (40)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cafe au lait spots, multiple	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIO-FACIO-CUTANEOUS SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME	—	ClinGen	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICOBASAL DEGENERATION DISORDER	—	GWAS catalog	26077951	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COSTELLO SYNDROME	—	ClinGen	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gingival fibromatosis	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 3	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (814)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AA amyloidosis	AA amyloidosis	BEFREE	27796618		★☆☆☆☆ Found in Text Mining only
Aarskog syndrome	Aarskog Syndrome	BEFREE	10906777, 11181572, 29051140		★☆☆☆☆ Found in Text Mining only
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	25692621, 29440379		★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	15226629		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30635434		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	22683780		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	22683780		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29341114		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10942402		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10910039, 10935508, 11606073, 14602140, 16513678, 21872356, 28214200, 31129386		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17062664		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	15720819		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	10935508, 11759110, 16513678, 18096875, 19010923, 19184985, 20150826, 26416301, 26919104, 29855336, 30635434		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	31254927		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	15590419		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28716720		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17190834		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	16189274		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	7989714		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	14730703, 29720369		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	16230398, 18992144, 19047176, 19244381, 20807782, 22447520		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16909099		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	LHGDN	18813782		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	20580899		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	12542830, 28270555		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	16403414		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	27840956		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	16324872		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26417591, 34440700	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	21855117		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12707786, 15388334, 17935811, 19595710, 28166654, 30356970, 30536581		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12707786		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	12707786		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	15388334		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	12707786		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	23811540, 25793303, 30953666		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	10487693		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31148267		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	25212607, 31467124		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	21897747, 23585864, 26854036, 30348125		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30306221		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	32792856	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26773005, 27821486, 28064436, 28608476, 29069737, 31072019		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	12542830, 28270555		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	11854734		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15064106, 19047582, 23372835, 29609131, 30061319, 30563615, 31085382, 9583349		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	17911637		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11223164, 11296484, 12191496, 14969747, 16186116		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12115353	Stimulate	★☆☆☆☆ Found in Text Mining only
Asymmetric Diabetic Proximal Motor Neuropathy	Asymmetric Diabetic Proximal Motor Neuropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15064106, 19047582, 23372835, 29609131, 30061319, 30563615, 31085382		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30697920		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30697920	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36801832	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28751869		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19360663	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17696172, 28751869, 30799683		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17626784, 23720743		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26561593, 27725632		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36175465	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	CTD_human_DG	15387324		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	CTD_human_DG	15387324		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	22683544	Associate	★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	BEFREE	15312691		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	22199345		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	BEFREE	20389169		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	7573364	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	31185750		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	16859527		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20436929		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11896103, 24366484, 25911129		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG	17586837, 19020799, 19953625, 20683980, 21387466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	16497877, 23431957, 28334277, 29337876, 35145077	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17138824, 22027690, 23431957, 31283912		★☆☆☆☆ Found in Text Mining only
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	BEFREE	11337747		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	14707023		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	18853759	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10202187, 19047176, 23386689		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20200025	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10832594, 11328532, 11489839, 11934261, 12673207, 12793903, 12807719, 14734471, 16112111, 17178829, 17495520, 17699109, 18499206, 18564920, 19124484, 19188684, 20634288, 20687930, 22027690, 22199345, 22366451, 22436613, 22767217, 22788954, 23592719, 24012497, 24434436, 24910416, 25029565, 25162020, 25351134, 25492484, 25605252, 25887320, 26934743, 27175600, 28060514, 28151481, 28739717, 28831645, 28861172, 29296173, 29337876, 29978911, 29983884, 30018709, 30314527, 30518672, 8837300, 9221809		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11571297, 17699109, 18160707, 18499206, 18564920, 19188684, 21489997, 22850551, 23049908, 24434436, 25029565, 25492484, 26781475, 26934743, 27097643, 27175600, 30004628, 30314527, 30518672, 32188473, 34344422, 35034243, 35085554, 35650297, 8160769	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18941460	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	32188473	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	26857230		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	21872356		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	31967847	Associate	★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	17586837	Associate	★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Ulerythema ophryogenesis	BEFREE	23673306		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	30360560		★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	18789327		★☆☆☆☆ Found in Text Mining only
Capillary Leak Syndrome	Capillary leak syndrome	Pubtator	25539852	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14555767, 16189274, 21489997, 22251819, 25633809, 26099202, 30355600, 34381422, 7573364, 9876767	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	23339006	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10752688, 12136432, 14697335, 15026993, 15192042, 17415522, 19724911, 21855117, 22198430, 22495710, 26338447, 30455128		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25844809	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	36788083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11533045, 11854908, 12883474, 15632311, 16014626, 19293637, 19447220, 20080086, 20977675, 21658389, 22418436, 22859706, 22912725, 22962849, 24532842, 24590895, 25148256, 25574092, 25591763, 25620570, 25980493, 26000702, 26099202, 26695141, 26790028, 27077227, 27579536, 28245423, 28358369, 28456666, 28713927, 30663411, 30761258, 33155201, 33760164, 34093861, 35650297, 37014321, 38184822, 9094433	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	1657643	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23977005	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	24025166	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11896103, 24366484, 25911129		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11172296, 11759110, 14737093, 16513678, 16819504, 18096875, 18645002, 20008840, 21220474, 22052230, 22089117, 22317763, 22435662, 22592212, 22789825, 23401458, 23659968, 23962905, 24099107, 24297483, 24828661, 25338771, 26919096, 28061464, 28064454, 28843992, 28888686, 29664235, 30134579, 30569179, 31104010, 8062221		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21105966, 28064436, 28608476, 7573364	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10454537, 15151998, 16983094, 24609899, 24914205, 25564569, 31994979, 32413671, 35546143, 37170275, 9781430	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	14970860, 33717076	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	1657643	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	18451156		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10684788, 11313876, 12770735, 18781954, 19959938, 20661229, 21118970, 21724856, 23467907, 23996744, 24952592, 26335595, 27139908, 27170665, 28258248		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	25503931		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	24118504, 24663077		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	17143285		★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG	17143282, 17143285, 18456719, 18651097, 20133692, 23875798, 25712082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	17586837, 18456719, 18651097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	12105137, 16109756, 18083897, 31368652		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	16109756, 18083897		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33549576	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	16109756, 18083897		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31024045, 32603605	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22585553, 29696744, 30732632	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	15840903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24229503		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11425038, 15180586, 18274928, 25998175, 27796618, 28682476, 29178143, 29609131, 30061319, 9583349		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	18274928, 19223201	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	LHGDN	15064106, 15087580		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	15064106		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	10558853	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	11759110		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	16230398		★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	11999653, 16505200		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	15194488, 16146767, 16505200, 30151417		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29321335, 29609131, 30151417		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11509947, 14707023, 15180586, 15194488, 29410622		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11606073, 28615991, 29058790, 31440058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	11606073, 24469707, 28615991, 29058790, 31440058		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	16047349		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	7989714		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	14730703, 29720369		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	16230398, 18992144, 19047176, 19244381, 20807782, 22447520		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	10869285, 16270396, 16950403, 23024367, 23619566, 30850583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	LHGDN	16859527		★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	16859527		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	40221697	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	LHGDN	15875782, 15913806		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	33627146	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	23320110		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23320110	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	27072875, 34127734	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	11014955		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	18508717, 30066918		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10718343, 14717911, 16564935, 18508717, 21775482, 29229532, 30066918		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24561793, 28231754, 30642077		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	19281086		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29472603		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	12243969		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	20819464		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	20416453		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	21229279, 28386375, 29150644, 30336268, 9010472		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36737481	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	15550554, 24604303		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	17260007, 27809916	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10082276, 10878450, 11557528, 16158056, 17461494, 18790766, 19856315, 22495710, 25666906, 28861327, 29062241, 29196164, 30675292, 8386069		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12519076	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12856716		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10878450, 10959552, 11085539, 12782608, 12918110, 16158056, 17531111, 18675922, 19148469, 20596656, 21504235, 21609022, 22533346, 23277013, 23532910, 25244939, 25381815, 25738887, 27793046, 28423584, 28445144, 28810597, 28895412, 29374697, 29589299, 30897285, 31367190		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11073815, 11557528, 11725828, 12918110, 15991286, 17260007, 21098338, 23277013, 23532910, 24425103, 25083765, 25244939, 25306394, 27793046, 27799652, 28209746, 28573382, 29693170, 30897285, 32800944, 36010567, 36303457, 36459180, 36591565, 38212428	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16278380		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17190834		★☆☆☆☆ Found in Text Mining only
Common Cold	Common cold	Pubtator	28538696	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22585553, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	31185750		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	27258033, 30873677		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	23619566		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	31368652		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	BEFREE	24722141		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12034665, 12105137, 18164961, 21899570, 29321335, 29795355		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10022739, 14713848, 15930277, 23867513, 24914205, 29396852, 29890660		★☆☆☆☆ Found in Text Mining only
Copper-Overload Cirrhosis	Copper-Overload Cirrhosis	CTD_human_DG	22879914		★☆☆☆☆ Found in Text Mining only
Corneal Injuries	Corneal injury	Pubtator	32016117	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	30816491		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	26686981		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19215239, 21327916, 28572400, 29409352, 30388208, 31085382		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	11087242, 39675594	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19215239, 28572400, 29409352, 30388208, 31085382		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	38310303	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19215239, 28572400, 29409352, 31085382		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	26077951	Associate	★☆☆☆☆ Found in Text Mining only
Corticobasal degeneration	Corticobasal Degeneration	GWASCAT_DG	26077951		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG	20030748		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	21784453		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	20416453, 30178481		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	32360286	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15550554		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	20389169		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	29752777	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	12438273		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	11971874		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	23148778, 30158635		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	33976695	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)	Deafness	GENOMICS_ENGLAND_DG	27610647		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)	Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)	Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11508578		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	26194191		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29410622		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	15194488		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	22832727	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	39501335	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	28821884	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	20580899		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30355600, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10718343, 11696476, 12586736, 14551916, 15047630, 16340242, 20980460, 28572400, 30214428, 31719926		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	28112754, 29233017	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10718343, 11696476, 12586736, 14551916, 15047630, 16340242, 20580899, 20980460, 28572400, 30214428, 31719926		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	14551916, 32875492	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19577077	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	27406064, 36303457	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	14551916, 26290879, 28812028, 33760164, 39342401, 39926598	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12746445, 31719926, 31721824		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	19154948		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27752839, 28273932, 30061319, 30066918, 31054988		★☆☆☆☆ Found in Text Mining only
Diabetic Amyotrophy	Diabetic Amyotrophy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Asymmetric Polyneuropathy	Diabetic Asymmetric Polyneuropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Autonomic Neuropathy	Diabetic Autonomic Neuropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	36232122	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Mononeuropathy	Diabetic Mononeuropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31895808, 33858824, 36726458	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15047630, 16340242, 19858036		★☆☆☆☆ Found in Text Mining only
Diabetic Neuralgia	Diabetic Neuralgia	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	15734864		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	16186340	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	16186340		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16189274		★☆☆☆☆ 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
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	30849454		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	27651465	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	25500583, 31831364		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11868160, 16773572, 17143282, 17143285, 17510059, 17586837, 18651097, 19020799, 19077116, 19438935, 19467855, 21387466, 21396583, 21784453, 22551697, 22604720, 23165751, 25073238, 25180280, 26249544, 26708403		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	17586837, 21387466, 35986401	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	36087188	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	19953625, 20461756, 26987019, 27840956		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12631221, 15583799, 21687953, 29854314, 7988745		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	12524084, 12631221, 22617129, 31992589, 33381557	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	12524084, 15831511	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	14764801, 15602080, 16006475		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	15602080, 25852006, 34930225	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15602080, 15764806, 15831511, 18596029, 25505196, 25852006, 30838714		★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	31383782	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21633362, 28433619		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	15156160, 30665391		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27170665		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	17409099, 8306528		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17062664, 27706656		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17062664, 27706656		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25885021	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20534479, 26036285, 27706656, 31533461, 34037097	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15127882		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	15127882	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31096000, 31621900		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	29255182		★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	BEFREE	7557980		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	11830326, 17764530		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17764530, 29735799, 30083132		★☆☆☆☆ Found in Text Mining only
Female Pseudo-Turner Syndrome	Noonan syndrome	CTD_human_DG	17603482, 17603483		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Gingival, Type 1	Fibromatosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fibromatosis, Gingival, Type 1	Fibromatosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15067326, 29355494		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15287857, 16627068, 16651617, 17024107, 20025519, 23527815, 24115681, 24840640, 25145391, 25380300, 25501583, 26071245, 26194009, 27960551, 28837849, 30336268, 30394698, 31452434		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	17097021		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	10487693		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	10487693		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	CLINVAR_DG	17586837, 19020799, 19953625, 20683980, 21387466		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	22404757		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	8698619	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	17437409		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	28049228, 9394725, 9479623		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	12114431		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	9038658		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	15846300	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25844809	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	30221743	Associate	★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	18283716		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	12243969		★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	21897747, 23585864, 30348125	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10389763, 10491431, 10873600, 10945642, 11238734, 11296484, 11909963, 17372907, 18485891, 22080864, 22203985, 22966858, 23359207, 23817964, 24518591, 26381735, 26637806, 28004613, 28696366, 29238047, 29348487, 29987920, 30108175, 30886866, 31221203, 31807027, 7556648		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11238734, 11296484, 11909963, 22203985, 26637806, 26654598, 29238047, 30886866, 34667077, 7556648	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	11909963, 18234969		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12115353, 24518591	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10202187, 10389763, 10491431, 10873600, 10945642, 11238734, 11296484, 11909963, 17372907, 18485891, 19412429, 22203985, 22966858, 23359207, 23817964, 24518591, 24821382, 26381735, 26654598, 28004613, 28696366, 29238047, 29348487, 29987920, 30108175, 30886866, 31807027, 7556648		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10389763, 10491431, 10945642, 11089886, 11716069, 11729097, 11909963, 12191496, 15958633, 16926624, 17369861, 17372907, 19074827, 20157762, 20233866, 26097553, 26764186, 29582423, 31221203, 8647632, 9111517, 9426685		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11238734, 11296484, 12115353, 15584904, 18077431, 18992144, 20157762, 20646316, 22741575, 26654598, 7556648, 9263534	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17765959		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	10945642		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19020799		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	16859527, 21342325		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	15047630		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	18362924		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	15005271	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	19858036	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	36627004	Associate	★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	20558345	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	25429627		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28441771, 29231907		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	14512973, 30303587	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	14512973	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33549576	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	18853759, 33549576	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	19931736		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12034665, 12105137, 18164961, 21899570, 29321335, 29795355		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	39675594	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	25844809	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	25844809		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24256874	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30642077		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	34857025	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	34344422	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	10629070, 15126053, 15942646, 21992464		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	21992464	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30206415, 30394935	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	ORPHANET_DG	11868160		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	11868160, 12482975, 16098013, 16671866, 17062749, 17189459, 17294073, 17510059, 17696172, 17875701, 18722051, 19863693, 20850432, 21131364, 24434513, 24714091, 24914205, 25062969, 25633810, 27423905, 27725196, 28138035, 28425619, 28433619, 28686854, 28842621, 29059509, 29292365, 29701962, 29787588, 29893934, 29939324, 30536581, 30649748, 31096000, 31105843		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	25362352		★☆☆☆☆ Found in Text Mining only
Hereditary Papillary Renal Carcinoma	Hereditary Papillary Renal Carcinoma	BEFREE	15579033		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	23084991, 30837268		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11159538		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	11159538, 24141626	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	15120936		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	36959127	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	20446811		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	12403787, 12746445, 14749526		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	19858036	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	20005573, 21897747		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	21897747	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15127882, 25047123	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	39595551	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11132607, 15127882, 15505094, 15541968, 22713485, 23933910, 31337959, 9583349		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	14989981, 15127882		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22585553, 23918763, 26714497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22585553, 26714497		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	11868160, 23811540	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12726861, 18234850, 18422749, 24914205, 27612459	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22383739	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23933910, 24824257, 29442198		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16574935, 9115749		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25697336	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34948231	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	19268458		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10491431, 12403787, 22317763, 23962905, 28861327		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18288214, 20673819, 29410622		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	11310823, 15550554, 24604303, 29795355		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39501335	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	27528224		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26420861, 33760164	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	11390418		★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	11310823		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28272703, 31283712		★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	25953673		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25049275		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	18956268		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29321335, 31831364		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	LHGDN	17315019		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	23918763		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10673746, 15939924		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	22003120, 24416191, 25735481, 36051483	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	22003120, 23387289, 24416191, 25735481		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	26081218		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	14717911, 16501492, 18502824, 21775482		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18201972, 30143691, 38081679	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15882257	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11805170, 20446811, 23734757, 28688148, 29557914, 31024074, 9541273		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10718343, 14717911, 18508717, 30066918, 9031263		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	28243116		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32788663	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36771423	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	25844809	Stimulate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	19568997, 21784453, 22585553		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	22585553	Associate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21151158, 30425048, 9397161		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21486864, 24561793, 30425048	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23919981, 30425048, 32609259, 34514432, 34789086, 36534523, 38022627, 39300580	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	30026572	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	19471602	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10681437, 22683780, 30425048, 30635434		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16019534		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	22683780		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16909099		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	19184985		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29165875		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	26006023		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10925356, 10995891, 11211911, 11223718, 11725828, 12619035, 12821940, 1309612, 14699503, 15288476, 15534860, 15905856, 15942646, 17087938, 17154373, 17260004, 18004740, 18199534, 18215136, 18339319, 18722051, 19526316, 21220499, 21658389, 22218908, 22418436, 22472882, 22580004, 22859706, 22912725, 22922104, 22962849, 23524339, 23537747, 23649759, 23723997, 23832667, 23898085, 23934123, 24045150, 24177224, 24259426, 24590895, 25148256, 25574092, 25607934, 25620570, 25862849, 25980493, 26000702, 26099202, 26351320, 26363180, 26416447, 26695141, 26790028, 26851630, 27196749, 27975162, 28075467, 28243120, 28245423, 28587113, 28766361, 28954551, 29085209, 29363547, 29558905, 30108016, 30197476, 30260026, 30543684, 30701994, 30761258, 30786811, 30866863, 30929159, 30952770, 31130723, 31441380, 31702093, 31807025, 31849449, 7806142, 7989714, 8179588, 8778194, 9010472, 9096589, 9815784		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	11896611, 9932610		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12619035, 12821940, 17992475		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11223718, 12907947, 15942646, 16627068, 16958060, 20025519, 21229279, 21526984, 26527860, 28386375, 28783177, 29150644, 30336268, 7806142, 8888442, 9930873		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	15239259		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	17097021		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	35650297	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	28766361		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36195310	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26327776, 9546344	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	26327776, 3276728, 7681834	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	11117560, 15912107, 1720310, 28844859, 31515741, 7806142, 9286233		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CTD_human_DG	12479984		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15534860, 15942646, 17260004, 23524339, 23537747, 24177224, 31130723, 7989714, 9815784		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	16627020		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	8807143		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	10502559		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27158780, 28855398	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	21520010, 25697336	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	21520010		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16513678, 18645002, 23549785, 25057941		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19817696, 21959198, 22052230, 24099107, 30569179, 31096000, 34185790, 35650297, 8980383	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31104010	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	16859527		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	16859527		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16859527, 25359881, 25762184, 29905030		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	LHGDN	16859527		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	16859527		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	16859527		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	12941820, 25504327		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21779788, 29134462, 31533461, 33655604	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	18564920, 22351697	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10512681, 10738140, 23422181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	18813782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	9028331	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	15120936		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11223164, 17765959		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28441771, 29231907		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25162674		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	9569039		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10832594, 11489839, 11934261, 12673207, 12793903, 12807719, 14519655, 14734471, 16112111, 17178829, 17495520, 18499206, 18564920, 19124484, 19188684, 20634288, 20687930, 22027690, 22199345, 22366451, 22436613, 22767217, 22788954, 23592719, 24012497, 24434436, 24910416, 25029565, 25162020, 25351134, 25492484, 25605252, 25887320, 26934743, 27175600, 28060514, 28739717, 28861172, 29296173, 29978911, 29983884, 30018709, 30314527, 30518672, 8837300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	12631221, 21687953, 29854314		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17062664, 27706656		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	15118756, 22404757		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28075018, 28374784		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15579033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	16627020, 17154373, 7989714		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	8807143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10935508, 11172296, 11759110, 14737093, 16513678, 16819504, 18096875, 18645002, 20008840, 21220474, 22052230, 22089117, 22317763, 22435662, 22592212, 22789825, 23401458, 23659968, 23962905, 24099107, 24297483, 24828661, 25338771, 26919096, 28064454, 28843992, 28888686, 29253515, 29664235, 30134579, 30569179, 31104010		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29165875		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	18789327		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10684788, 12770735, 15302591, 18781954, 19959938, 21118970, 21724856, 23467907, 23996744, 24952592, 26335595, 27139908, 27170665, 28258248		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10878450, 12224019, 12594808, 14598883, 18422749, 19118941, 20801877, 26667487, 28461158, 29100344, 30544501, 30636579, 30914029, 31161784, 31254927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10875259, 11948964, 12115502, 12792760, 15277227, 17283128, 18079321, 19724911, 20200161, 20835261, 21765461, 22639908, 23023561, 24858137, 26093299, 26250899, 26977008, 28277613, 30186533, 31819003, 9625818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	18355439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30631034		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10601554, 10762618, 11421874, 11535962, 12381909, 12674216, 15026993, 19497102, 19533745, 21393565, 21734448, 21796631, 23402812, 24663077, 25592281, 25727320, 27683052, 28064454, 28314274, 28738343, 29134462, 29285843, 29435059, 29781036, 29917165, 30158543, 30514177, 30662594, 31281359, 7676688, 8440743		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	17409099		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11896103, 24366484, 25911129		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10498872, 10699931, 10878450, 10945642, 11029504, 11223164, 11313876, 11328532, 11477552, 11501846, 11562767, 11729097, 11829525, 11857077, 11857377, 12136432, 12191496, 12198770, 12631221, 12726861, 12915117, 14627992, 15261142, 15312691, 15492846, 15579033, 15905856, 15942646, 15958633, 16189274, 16225393, 16230398, 16341142, 16557597, 17461494, 17534684, 17534699, 18064648, 18355439, 18381964, 18499206, 18501120, 18790766, 18973191, 18992144, 19010923, 19118941, 19165419, 19184985, 19188684, 19318497, 19567783, 19588506, 19638428, 20146583, 20462834, 20661229, 21469146, 21504235, 21922134, 22199345, 22270953, 22366451, 22436613, 22525273, 22689056, 22873759, 23320110, 23345546, 23386689, 23532910, 23537747, 23548264, 23952536, 23996744, 24012497, 24366484, 24371262, 24384534, 24440758, 24858137, 24865428, 24882574, 24952592, 25091805, 25310042, 25338771, 25426675, 25504327, 25504634, 25645920, 25880005, 25910030, 25987653, 26250899, 26254225, 26330547, 26335595, 27086914, 27109105, 27170665, 27196749, 28064454, 28092646, 28110998, 28231754, 28336955, 28341789, 28420724, 28454352, 28461158, 28475121, 28673936, 28716525, 28806394, 28810597, 28827556, 28923919, 29157685, 29178143, 29375714, 29432733, 29452216, 29499401, 29720369, 29769197, 29771943, 29917165, 30119228, 30214428, 30361332, 30377195, 30404068, 30411685, 30441809, 30544501, 30569179, 30669409, 30714195, 31196968, 31387681, 31430556, 31512514, 31533461, 31783719, 9096589, 9111517, 9625818, 9738769		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	14730703, 17558420, 18281533, 21540237, 29720369		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11606073, 28615991, 29058790, 31440058		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10082276, 10878450, 11557528, 16158056, 17461494, 18790766, 22179665, 22495710, 25666906, 28861327, 29062241, 29196164, 30675292, 8386069		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16142411, 19188684, 26447228, 27893712		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17143015		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	16230398, 18992144, 19047176, 19244381, 20807782, 22447520		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	18059365		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18059365, 18992144, 19244381, 26496080, 32818841	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11333132, 11781826, 12438273, 16455654, 16912161, 21602881, 21654344, 22699362, 22763439, 23470450, 23802768, 24372645, 24434899, 25056607, 25910030, 26317169, 27304678, 27378568, 27458138, 28064454, 28147313, 28553955, 28788083, 28861327, 29455657, 30513872		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	11781826, 15608673, 17625596		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16455654, 16645588, 17597814, 20164843, 21654344, 22763439, 26302068, 27304678, 27689874, 36303457, 9546344	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	1657643	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	BEFREE	11209133		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	36175465	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	12115353	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15312691		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	31407874		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11337747		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	11027427, 17872495, 22065079, 35319795	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	16397249, 17872495, 19834061, 22065079, 27068941, 9569039		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12612292, 17872495, 22246193, 9569039	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30214428		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19223316	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19223316, 28373847		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	16877364, 28751311, 30318169		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	15327888, 22689056		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	30348125		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	37938611	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	11571297	Inhibit	★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	23431957, 25212607, 25353275, 29098000, 29589107		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	22835604, 30536581		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	LHGDN	15528455		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	LHGDN	18091351		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	34329663	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11868160, 16773572, 17143282, 17143285, 17510059, 17586837, 18651097, 19020799, 19077116, 19438935, 19467855, 21387466, 21396583, 21784453, 22551697, 22604720, 23165751, 25073238, 25180280, 26249544, 26708403		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	26708403		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11830493, 16189274, 16497877, 17593251, 17823079, 18509644, 18512025, 19187270, 19228610, 20658475, 21131364, 23232072, 23431957, 24450886, 26220195, 30353654, 8916966	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11830493, 16189274, 17138824, 17179234, 19187270, 20658475, 21131364, 21963844, 23431957, 23952536, 24450886, 25212607, 25353275, 25967746, 26220195, 29057477, 29098000, 29568363, 29589107, 29924867, 30233724, 30353654, 31356563, 8798732, 8916966		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12682635, 15172968		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24326130	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29150266		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	32457139	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	37414259	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30484958		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24106013, 24410667	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26521017	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11839748		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22904675		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	16109756, 18083897		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	10598900	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10694824, 11399246, 11425038, 12683576, 12695295, 18083897, 18164961, 18956268, 19215239, 20016947, 21327916, 21899570, 22038108, 24502539, 28459804, 29158523, 29321335, 29787588, 29795355, 30563615, 31555539		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18539758		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	12447174		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	12683576, 19146824, 21327916, 23151518, 23301013, 23484149		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	23484149	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	12488504		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19471602, 22509107, 24766640, 30665391	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	19471602, 20005573		★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	BEFREE	31335221		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	20580899		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	20819464		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	20819464	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11809714, 18789327		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24722284	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	18789327	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	LHGDN	18789327		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	24407592, 30771819		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	24407592, 30771819, 31383782		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10022739, 10202187, 10389764, 10487611, 10491431, 10629070, 10699931, 10702399, 10738140, 10832594, 10925356, 10935508, 10945642, 11085539, 11172296, 11211911, 11290563, 11296484, 11477552, 11479233, 11729097, 11748645, 11809714, 11829525, 11981761, 12077278, 12114431, 12726861, 12807719, 12845672, 12915117, 12941820, 1406687, 14555767, 14567996, 14602140, 14734471, 14737093, 15013425, 15026993, 15067326, 15072590, 15192042, 15240510, 15520203, 15526350, 15545993, 15922853, 16051641, 16103054, 16139560, 16142411, 16230398, 16300472, 16513678, 16627020, 16707471, 16840440, 17049072, 17190834, 17294073, 17404103, 17409099, 17415522, 17431125, 17495520, 17525527, 17593080, 17699109, 17765959, 18199534, 1835383, 18645002, 18672314, 18709663, 18722051, 18790766, 19065669, 19139131, 19321255, 19357348, 19391129, 19412429, 19435874, 19533745, 19567783, 19589612, 19617897, 19661350, 19724911, 19920185, 19953625, 20150826, 20215403, 20233866, 20461756, 20716641, 20807782, 20927591, 20952508, 21105966, 21128242, 21131364, 21252284, 21383285, 21440951, 21779788, 21796631, 21872356, 21922134, 22052230, 22089117, 22203985, 22436613, 22447520, 22619305, 22788954, 22789825, 22859706, 23335069, 23386689, 23467907, 23470450, 23532910, 23549785, 23617728, 23728339, 23898085, 24072493, 24177224, 24290754, 24366484, 24386407, 24469707, 24687921, 24810547, 24914205, 24930887, 24983493, 25068796, 25244939, 25278141, 25351134, 25552591, 25726528, 25844809, 25881479, 25910030, 25923130, 25986726, 26000702, 26093299, 26099202, 26543230, 26690587, 27068941, 27127175, 27139908, 27258033, 27304678, 27374174, 27893712, 28064454, 28094206, 28118269, 28214200, 28243120, 28280216, 28420162, 28420724, 28441771, 28559461, 28587113, 28738343, 28802255, 28827556, 28829508, 28830617, 28861327, 28881825, 28944826, 29035389, 29097023, 29100344, 29157685, 29203124, 29231907, 29285843, 29348487, 29375714, 29398577, 29440379, 29445030, 29558956, 29844066, 29926253, 29989060, 30158543, 30208970, 30352967, 30401749, 30473379, 30569179, 30642077, 30719213, 30897285, 31101918, 31136962, 31476283, 31512514, 31532650, 31533461, 31620201, 7489981, 7676688, 7996175, 8252338, 8761307, 9010472, 9096589, 9111517, 9426685, 9625818, 9815784		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	16230398		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11748645, 19318497, 21775482		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	26081218		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15342394, 15809092, 16051641, 18957052, 19661350, 27922668, 31137515		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	CTD_human_DG	16051641		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19661350	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19939254, 31137515, 34556815	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36614096	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15060152, 16511502, 28094206		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	18992144		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	7996175		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	7996175		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	12752125, 12930297, 18281533, 28456002		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	22585553	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	17558420, 20739432	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	25844809	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	30195792, 31376938		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12586736, 28456002		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11172296, 14602140, 16513678, 17332337, 17951244, 18379349, 19617897, 20019837, 20146583, 20716641, 21440951, 21779788, 21779929, 22873759, 23345546, 23549785, 23962905, 24276579, 24722154, 24983493, 25057941, 25323938, 25338771, 25504327, 25522765, 25532429, 26919096, 27374174, 28038979, 28098570, 28121629, 28192876, 28260071, 28296343, 28416482, 28472537, 28554854, 28559461, 28619066, 28619752, 28940757, 29069748, 29463284, 29943841, 29986736, 30429024, 30473379, 30569179, 31602259, 31747941, 31807006, 9649128		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	17764530, 29735799, 30083132		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	17593080		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	17593080, 24025166, 25049275		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	19576567, 27488639		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	11333268, 17143282, 17143285, 1758637, 17586837, 18456719, 18651097, 18678287, 18772396, 18854871, 19020799, 19077116, 19352411, 19438935, 19953625, 20133692, 20133694, 20305546, 20461756, 20673819, 20683980, 21041952, 21274610, 21340158, 21387466, 21784453, 22190897, 22465605, 23452850, 23487764, 23673306, 24270602, 24522193, 24803665, 25337068, 26214590, 26686981, 26918529, 27236105, 28378436, 29037749, 29493581, 30266093		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	17143282, 17143285, 18651097, 20133692, 21041952, 21387466, 23875798, 25337068, 25712082		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	BEFREE	17143282, 17143285, 17586837, 17603482, 17661820, 18064648, 18348260, 18456719, 18651097, 19020799, 19438935, 19568997, 19938085, 19953625, 20052757, 20461756, 20673819, 20683980, 21041952, 21340158, 21387466, 21784453, 22420426, 23487764, 23673306, 23786871, 24522193, 25712082, 26173643, 26686981, 26903553, 27304678, 28009100, 28884940, 30039904, 30541462, 31219622, 31368652		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	LHGDN	17143282, 17143285, 18651097, 19020799		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	GENOMICS_ENGLAND_DG	17143285, 17586837, 19438935, 23875798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	17143285		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome	Noonan Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	17586837, 18854871, 19077116, 19352411, 20186801, 20543023, 21387466, 22253195, 23487764, 25073238, 25712082, 27304678, 28009100, 29907801, 30039904, 30541462, 30784236, 31292302, 31560489, 32394265, 32514133, 32788663, 33549576, 34136918, 35986401, 36140671, 37407569, 38254922	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CTD_human_DG	17603482, 17603483		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CTD_human_DG	17603482, 17603483		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 3	Noonan Syndrome	CLINVAR_DG	17143282, 17586837, 20186801, 21387466, 21784453, 23487764		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome 4	Noonan Syndrome	UNIPROT_DG	17143282, 17143285, 19020799, 19438935, 19953625, 20673819, 20683980, 21387466		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 4	Noonan Syndrome	GENOMICS_ENGLAND_DG	17143285, 17586837, 18925667, 19438935, 23875798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 4	Noonan Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 4	Noonan Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16757549, 18274928, 25500583, 28273932, 30214428		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18274928	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25690371	Stimulate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	21855117		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	BEFREE	28830652		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11212179, 34856957	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28950723		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	12812389		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28950723, 30306221		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10867643, 12388161		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	11167845, 33797312, 35645100	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	14524531		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26335595		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10684788, 12770735, 18781954, 19959938, 21118970, 21724856, 23467907, 23996744, 24952592, 26335595, 27139908, 27170665, 28258248		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16469801		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15839837, 19959938, 20583256, 21724856, 23467907, 23513043, 24952592, 28075407, 29099290, 29920310, 31097475, 31488087	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	12845672		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10878450, 12198770, 12224019, 12594808, 14598883, 18422749, 19118941, 20801877, 26667487, 28461158, 29100344, 30544501, 30636579, 30914029, 31161784, 31254927		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	29341114		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	26876216		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15880501, 18422749		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	21041998		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11259105, 18422749, 18625714, 23672538, 26381405, 28205613, 31161784, 35449152, 9665481	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	CTD_human_DG	14751415		★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	30680957	Inhibit	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10487693, 10702399, 12213214, 15192042, 15526350, 17409099, 23617728		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	29844066, 30631034		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16791285		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	16791285		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25276829	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	17406031, 26876216		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	LHGDN	12645668		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	12243969, 12613501		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34128105	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	15005271	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	30104096	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	32202143	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	10373220, 11313789, 11696476, 11914260, 11960313, 15013425, 19215239, 22023478, 22904270, 25633211, 26561593, 29689451		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	26561593		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29844434		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29844434, 30103949		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	10373220, 11313789, 11696476, 11960313, 15013425, 15180586, 19215239, 22904270		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	33655604	Associate	★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	15156160		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	20200025	Associate	★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	28456002		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	7916076		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	21042281		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	22965887	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	20580899		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	28895412		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	18064648, 29097023, 30763910		★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29410622		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	21897747, 23585864, 26854036, 30348125		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	16859527, 16941151, 7806142		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	15156160		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	15156160, 15988409, 16384992, 27936052		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29095436	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10875259, 11113771, 11948964, 12115502, 12792760, 15277227, 17283128, 18079321, 19724911, 20200161, 20835261, 22639908, 23023561, 24858137, 26093299, 26250899, 26977008, 28277613, 30186533, 9625818		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	30401749		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12792760, 12883672, 16136515, 17203235, 17876341, 19010854, 19021204		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12845672, 14613995		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16869958, 19724911, 20200161, 20406887, 25272043, 27787597, 28440432, 30186533, 32143478, 35204839, 35650297, 37460872, 9624561	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20835261	Stimulate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	25047123	Associate	★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	15505094, 24824257, 25940417, 29442198		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	21258008	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	16216128, 29472603, 34335580	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25125975	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33656381	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	24465776	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	15579628, 15781752		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	12177240	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	14712301, 16574935, 17056705, 19448157, 21131996, 22744972, 23134111, 23458413, 25384638, 28297588, 29408570, 9115749		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	16324872		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	BEFREE	19953625, 26686981, 28009100		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	30594174		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	27796618		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21922134		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	15579033		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10022739, 10454537, 12076276, 14713848, 15930277, 23867513, 24914205, 29890660		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	12750986		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	12750986		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	15149317, 16838037, 18508717, 20424598, 22551933, 29292365, 30342194, 30635373, 31091122, 31411175		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31091122		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	18065658, 27129877		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	32542038	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	15156160	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30471863		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20631154, 31810025		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 3	Retinitis Pigmentosa	BEFREE	8673101, 8817343		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	11533045	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	10751359	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	20938001, 23094709		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12368906, 17243166, 19588509, 31761617		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	30697920		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	30697920	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11508578, 9115749		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	30048449		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	16139560		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	9115749		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	16849525, 25844809, 26987019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	32127467	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	25844809	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	31096000		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	36821647	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23720743, 29241584		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	31959813	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	14712301, 15675950, 17049072, 17164998, 22286923		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	21520010	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	31148267		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	21447729, 24800946, 24919569		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	30646583	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	15734864		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29447812		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21633362		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	16723436, 19060265, 19471602, 24766640, 30665391		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	25707609	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11821397	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	21595927, 29844066		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	11839685, 17322284		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	17322284, 19139719, 21847116, 24284055, 25640943, 28121629, 28786540, 28903317, 31547040, 7678980		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28121629	Stimulate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37828456	Associate	★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	23324130		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	16258259		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	27651465		★☆☆☆☆ Found in Text Mining only
Spherocytosis, Type 5	Spherocytosis	BEFREE	30425048		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10836994, 11477552, 14602140, 20852387, 21899661, 27330189, 29934328, 9738769		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	11994287, 16144920, 17981731		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	21273587		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20534479, 25884729, 26036285, 27706656, 31533461		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18283272, 18836279, 19385965, 21899661, 22869872, 24722284, 26319934, 28475003, 31940827, 32064753, 34599215, 35275524	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	9738769		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11479233, 12393863, 16103054, 19318576, 21899661, 28441771, 29103754, 29231907, 29769197, 30001714		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	16308260, 17294073		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28092646		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	11830326, 30538805		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10601554, 10752688, 10762618, 11421874, 11535962, 12136432, 12674216, 19497102, 19533745, 21393565, 21734448, 21796631, 23402812, 24663077, 25592281, 25727320, 26676563, 27683052, 28064454, 28314274, 28738343, 29134462, 29285843, 29435059, 29781036, 29917165, 30158543, 30514177, 30662594, 31281359, 7676688, 8440743		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	17990109		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12674216, 1386559, 16244541, 19497102, 19533745, 21734448, 22238368, 24887009, 25592281, 27683052, 28012218, 29134462, 29686309, 29781036, 32788873, 35650297, 8440743, 8612619, 9119743, 9459603	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	15026993, 26690587		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	11223164		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	21224066		★☆☆☆☆ Found in Text Mining only
Symmetric Diabetic Proximal Motor Neuropathy	Symmetric Diabetic Proximal Motor Neuropathy	CTD_human_DG	26000320		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	10685632, 16849525, 27779808		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	12233882, 14712301, 15675950, 17049072, 17164998, 17599773, 21520010, 22890162		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	12233882, 17599773		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20819206		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	30594174	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25910030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17409099, 29426928	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10430176, 17409099		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	17409099		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	12733712, 17409099	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	12733712	Associate	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	34067581	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22788954	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22788954, 25887320		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	21224066		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	27651465		★☆☆☆☆ Found in Text Mining only
Turner Syndrome, Male	Turner Syndrome, Male	CTD_human_DG	17603482, 17603483		★☆☆☆☆ Found in Text Mining only
Ulcer of esophagus	Ulcer Of Esophagus	BEFREE	30227416		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10959552, 17260007, 29644517		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25921176, 36140796, 40226549, 9781430	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16977794, 27581326	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	19032678, 24551032, 28138035, 36267302, 9546344	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	30714452		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	21920521	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	CTD_human_DG	15071489		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	27612459	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	25360679, 31555539		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG	17586837, 19020799, 19953625, 20683980, 21387466		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	15156160	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	15988409, 27936052	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	32320127	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	23812912		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	20631154, 8673101, 8817343		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	21982065		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MAP2K1 4 shared diseasesCardiofaciocutaneous syndrome, Costello syndrome, Male infertility single gene azoospermia, Noonan syndrome 42 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, Focal adhesion, Gap junction, Natural killer cell mediated cytotoxicity +30 more 11 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinGen (Costello syndrome), Disgenet (Costello syndrome), Disgenet (Male infertility single gene azoospermia), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), GWAS catalog (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 42 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly Disgenet. RAF1 5 shared diseasesDilated cardiomyopathy, Cardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome, Tetralogy of fallot 43 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, Focal adhesion, Gap junction, JAK-STAT signaling pathway +31 more 13 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), Disgenet (Dilated cardiomyopathy), ClinGen (Costello syndrome), Disgenet (Costello syndrome), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), GWAS catalog (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) +1 more Related via 43 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly Disgenet. NRAS 3 shared diseasesCardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome 77 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, Gap junction, Natural killer cell mediated cytotoxicity, T cell receptor signaling pathway +65 more 11 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinGen (Costello syndrome), Disgenet (Costello syndrome), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), GWAS catalog (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 77 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly ClinGen. SHOC2 3 shared diseasesCardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome 1 shared pathwayRas signaling pathway 11 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinGen (Costello syndrome), Disgenet (Costello syndrome), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), GWAS catalog (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 3 shared diseases including Cardiofaciocutaneous syndrome, Costello syndrome — evidence mostly ClinGen. MAP2K2 3 shared diseasesCardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome 39 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, Gap junction, Natural killer cell mediated cytotoxicity, T cell receptor signaling pathway, B cell receptor signaling pathway +27 more 7 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), Disgenet (Costello syndrome), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), GWAS catalog (Noonan syndrome) Related via 39 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MAP2K1	4	["Cardiofaciocutaneous syndrome","Costello syndrome","Male infertility single gene azoospermia","Noonan syndrome"]	42	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","Phospholipase D signaling pathway","mTOR signaling pathway","Focal adhesion","Gap junction","Natural killer cell mediated cytotoxicity"]	11	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","Disgenet (Male infertility single gene azoospermia)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","GWAS catalog (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
RAF1	5	["Dilated cardiomyopathy","Cardiofaciocutaneous syndrome","Costello syndrome","Noonan syndrome","Tetralogy of fallot"]	43	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","Phospholipase D signaling pathway","mTOR signaling pathway","Focal adhesion","Gap junction","JAK-STAT signaling pathway"]	13	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","Disgenet (Dilated cardiomyopathy)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","GWAS catalog (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
NRAS	3	["Cardiofaciocutaneous syndrome","Costello syndrome","Noonan syndrome"]	77	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","Phospholipase D signaling pathway","mTOR signaling pathway","Gap junction","Natural killer cell mediated cytotoxicity","T cell receptor signaling pathway"]	11	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","GWAS catalog (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
SHOC2	3	["Cardiofaciocutaneous syndrome","Costello syndrome","Noonan syndrome"]	1	["Ras signaling pathway"]	11	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","GWAS catalog (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
MAP2K2	3	["Cardiofaciocutaneous syndrome","Costello syndrome","Noonan syndrome"]	39	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","FoxO signaling pathway","Phospholipase D signaling pathway","mTOR signaling pathway","Gap junction","Natural killer cell mediated cytotoxicity","T cell receptor signaling pathway","B cell receptor signaling pathway"]	7	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","Disgenet (Costello syndrome)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","GWAS catalog (Noonan syndrome)"]

Diseases Linked via Similar Genes

Leopard syndrome Linked via 4 of 5 related genesMAP2K1, RAF1, NRAS, MAP2K2 Melanoma Linked via 3 of 5 related genesMAP2K1, NRAS, MAP2K2 Prostatic neoplasms Linked via 3 of 5 related genesMAP2K1, RAF1, MAP2K2 noonan syndrome with multiple lentigines Linked via 3 of 5 related genesMAP2K1, RAF1, NRAS Cardiomyopathy Linked via 2 of 5 related genesRAF1, SHOC2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Leopard syndrome	4	["MAP2K1","RAF1","NRAS","MAP2K2"]
Melanoma	3	["MAP2K1","NRAS","MAP2K2"]
Prostatic neoplasms	3	["MAP2K1","RAF1","MAP2K2"]
noonan syndrome with multiple lentigines	3	["MAP2K1","RAF1","NRAS"]
Cardiomyopathy	2	["RAF1","SHOC2"]