MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)

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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: 4548
• Gene name: 5-methyltetrahydrofolate-homocysteine methyltransferase
• Gene symbol: MTR
• Synonyms (NCBI Gene): HMAG, MS, cblG
• Chromosome: 1
• Chromosome location: 1q43
• Summary: This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying

SNPs Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805087	A>G	Benign, risk-factor, uncertain-significance	Coding sequence variant, missense variant
rs116836001	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121913578	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913580	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913581	G>T	Pathogenic	Stop gained, coding sequence variant
rs121913582	G>C	Pathogenic	Missense variant, coding sequence variant
rs145006491	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, 5 prime UTR variant, missense variant
rs201718371	C>T	Pathogenic	Coding sequence variant, stop gained
rs794727395	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044443	AAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044444	TC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797044445	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1064796330	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1190777785	G>C	Likely-pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1242741686	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1346847201	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1367402633	AT>-	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, initiator codon variant, coding sequence variant
rs1413989228	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1572218599	G>C	Likely-pathogenic	Splice donor variant, intron variant
rs1572278166	->ATCA	Pathogenic	Coding sequence variant, frameshift variant
rs1572309822	A>-	Pathogenic	Coding sequence variant, intron variant, stop gained

miRNA Show/Hide all (921)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047589	hsa-miR-10a-5p	CLASH	23622248
MIRT044357	hsa-miR-106b-5p	CLASH	23622248
MIRT042208	hsa-miR-484	CLASH	23622248
MIRT041354	hsa-miR-193b-3p	CLASH	23622248
MIRT041354	hsa-miR-193b-3p	CLASH	23622248
MIRT497504	hsa-miR-4635	PAR-CLIP	22291592
MIRT497503	hsa-miR-548ao-5p	PAR-CLIP	22291592
MIRT497502	hsa-miR-548ax	PAR-CLIP	22291592
MIRT497501	hsa-miR-5585-5p	PAR-CLIP	22291592
MIRT497500	hsa-miR-3616-5p	PAR-CLIP	22291592
MIRT497499	hsa-miR-573	PAR-CLIP	22291592
MIRT497498	hsa-miR-3064-3p	PAR-CLIP	22291592
MIRT497497	hsa-miR-4715-3p	PAR-CLIP	22291592
MIRT440197	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440197	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT134329	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT134332	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT134330	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT134331	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT134335	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT497504	hsa-miR-4635	PAR-CLIP	22291592
MIRT497503	hsa-miR-548ao-5p	PAR-CLIP	22291592
MIRT497502	hsa-miR-548ax	PAR-CLIP	22291592
MIRT497501	hsa-miR-5585-5p	PAR-CLIP	22291592
MIRT497500	hsa-miR-3616-5p	PAR-CLIP	22291592
MIRT497499	hsa-miR-573	PAR-CLIP	22291592
MIRT497498	hsa-miR-3064-3p	PAR-CLIP	22291592
MIRT497497	hsa-miR-4715-3p	PAR-CLIP	22291592
MIRT1164912	hsa-let-7a	CLIP-seq
MIRT1164913	hsa-let-7b	CLIP-seq
MIRT1164914	hsa-let-7c	CLIP-seq
MIRT1164915	hsa-let-7d	CLIP-seq
MIRT1164916	hsa-let-7e	CLIP-seq
MIRT1164917	hsa-let-7f	CLIP-seq
MIRT1164918	hsa-let-7g	CLIP-seq
MIRT1164919	hsa-let-7i	CLIP-seq
MIRT1164920	hsa-miR-103b	CLIP-seq
MIRT1164921	hsa-miR-1184	CLIP-seq
MIRT1164922	hsa-miR-1200	CLIP-seq
MIRT1164923	hsa-miR-1207-5p	CLIP-seq
MIRT1164924	hsa-miR-1224-3p	CLIP-seq
MIRT1164925	hsa-miR-124	CLIP-seq
MIRT1164926	hsa-miR-1255a	CLIP-seq
MIRT1164927	hsa-miR-1255b	CLIP-seq
MIRT1164928	hsa-miR-1260	CLIP-seq
MIRT1164929	hsa-miR-1260b	CLIP-seq
MIRT1164930	hsa-miR-1262	CLIP-seq
MIRT1164931	hsa-miR-1280	CLIP-seq
MIRT1164932	hsa-miR-1283	CLIP-seq
MIRT1164933	hsa-miR-1293	CLIP-seq
MIRT1164934	hsa-miR-1294	CLIP-seq
MIRT1164935	hsa-miR-129-5p	CLIP-seq
MIRT1164936	hsa-miR-1298	CLIP-seq
MIRT1164937	hsa-miR-1324	CLIP-seq
MIRT1164938	hsa-miR-141	CLIP-seq
MIRT1164939	hsa-miR-154	CLIP-seq
MIRT1164940	hsa-miR-15a	CLIP-seq
MIRT1164941	hsa-miR-15b	CLIP-seq
MIRT1164942	hsa-miR-16	CLIP-seq
MIRT1164943	hsa-miR-1827	CLIP-seq
MIRT1164944	hsa-miR-195	CLIP-seq
MIRT1164945	hsa-miR-1976	CLIP-seq
MIRT1164946	hsa-miR-19a	CLIP-seq
MIRT1164947	hsa-miR-19b	CLIP-seq
MIRT1164948	hsa-miR-200a	CLIP-seq
MIRT1164949	hsa-miR-200b	CLIP-seq
MIRT1164950	hsa-miR-200c	CLIP-seq
MIRT1164951	hsa-miR-202	CLIP-seq
MIRT1164952	hsa-miR-203	CLIP-seq
MIRT1164953	hsa-miR-205	CLIP-seq
MIRT1164954	hsa-miR-2114	CLIP-seq
MIRT1164955	hsa-miR-2115	CLIP-seq
MIRT1164956	hsa-miR-214	CLIP-seq
MIRT1164957	hsa-miR-2276	CLIP-seq
MIRT1164958	hsa-miR-2355-5p	CLIP-seq
MIRT1164959	hsa-miR-24	CLIP-seq
MIRT1164960	hsa-miR-3074-5p	CLIP-seq
MIRT1164961	hsa-miR-30a	CLIP-seq
MIRT1164962	hsa-miR-30b	CLIP-seq
MIRT1164963	hsa-miR-30c	CLIP-seq
MIRT1164964	hsa-miR-30d	CLIP-seq
MIRT1164965	hsa-miR-30e	CLIP-seq
MIRT1164966	hsa-miR-3119	CLIP-seq
MIRT1164967	hsa-miR-3120-3p	CLIP-seq
MIRT1164968	hsa-miR-3124-3p	CLIP-seq
MIRT1164969	hsa-miR-3125	CLIP-seq
MIRT1164970	hsa-miR-3127-5p	CLIP-seq
MIRT1164971	hsa-miR-3140-3p	CLIP-seq
MIRT1164972	hsa-miR-3140-5p	CLIP-seq
MIRT1164973	hsa-miR-3148	CLIP-seq
MIRT1164974	hsa-miR-3149	CLIP-seq
MIRT1164975	hsa-miR-3152-5p	CLIP-seq
MIRT1164976	hsa-miR-3153	CLIP-seq
MIRT1164977	hsa-miR-3155	CLIP-seq
MIRT1164978	hsa-miR-3155b	CLIP-seq
MIRT1164979	hsa-miR-3157-3p	CLIP-seq
MIRT1164980	hsa-miR-3158-3p	CLIP-seq
MIRT1164981	hsa-miR-3168	CLIP-seq
MIRT1164982	hsa-miR-3170	CLIP-seq
MIRT1164983	hsa-miR-3180-5p	CLIP-seq
MIRT1164984	hsa-miR-3184	CLIP-seq
MIRT1164985	hsa-miR-3192	CLIP-seq
MIRT1164986	hsa-miR-3202	CLIP-seq
MIRT1164987	hsa-miR-326	CLIP-seq
MIRT1164988	hsa-miR-330-5p	CLIP-seq
MIRT1164989	hsa-miR-342-5p	CLIP-seq
MIRT1164990	hsa-miR-34c-3p	CLIP-seq
MIRT1164991	hsa-miR-3545-3p	CLIP-seq
MIRT1164992	hsa-miR-3612	CLIP-seq
MIRT1164993	hsa-miR-3614-5p	CLIP-seq
MIRT1164994	hsa-miR-3617	CLIP-seq
MIRT1164995	hsa-miR-3619-5p	CLIP-seq
MIRT1164996	hsa-miR-3622b-5p	CLIP-seq
MIRT1164997	hsa-miR-3646	CLIP-seq
MIRT1164998	hsa-miR-3647-3p	CLIP-seq
MIRT1164999	hsa-miR-3663-3p	CLIP-seq
MIRT1165000	hsa-miR-3664-5p	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT1165003	hsa-miR-3690	CLIP-seq
MIRT1165004	hsa-miR-369-3p	CLIP-seq
MIRT1165005	hsa-miR-370	CLIP-seq
MIRT1165006	hsa-miR-3714	CLIP-seq
MIRT1165007	hsa-miR-371-5p	CLIP-seq
MIRT1165008	hsa-miR-374a	CLIP-seq
MIRT1165009	hsa-miR-374b	CLIP-seq
MIRT1165010	hsa-miR-377	CLIP-seq
MIRT1165011	hsa-miR-380	CLIP-seq
MIRT1165012	hsa-miR-3910	CLIP-seq
MIRT1165013	hsa-miR-3914	CLIP-seq
MIRT1165014	hsa-miR-3916	CLIP-seq
MIRT1165015	hsa-miR-3928	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT1165017	hsa-miR-423-3p	CLIP-seq
MIRT1165018	hsa-miR-423-5p	CLIP-seq
MIRT1165019	hsa-miR-424	CLIP-seq
MIRT1165020	hsa-miR-4251	CLIP-seq
MIRT1165021	hsa-miR-4254	CLIP-seq
MIRT1165022	hsa-miR-4260	CLIP-seq
MIRT1165023	hsa-miR-4261	CLIP-seq
MIRT1165024	hsa-miR-4263	CLIP-seq
MIRT1165025	hsa-miR-4274	CLIP-seq
MIRT1165026	hsa-miR-4277	CLIP-seq
MIRT1165027	hsa-miR-4279	CLIP-seq
MIRT1165028	hsa-miR-4284	CLIP-seq
MIRT1165029	hsa-miR-429	CLIP-seq
MIRT1165030	hsa-miR-4291	CLIP-seq
MIRT1165031	hsa-miR-4303	CLIP-seq
MIRT1165032	hsa-miR-431	CLIP-seq
MIRT1165033	hsa-miR-4314	CLIP-seq
MIRT1165034	hsa-miR-4316	CLIP-seq
MIRT1165035	hsa-miR-4329	CLIP-seq
MIRT1165036	hsa-miR-4418	CLIP-seq
MIRT1165037	hsa-miR-4419a	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT1165039	hsa-miR-4427	CLIP-seq
MIRT1165040	hsa-miR-4436b-5p	CLIP-seq
MIRT1165041	hsa-miR-4443	CLIP-seq
MIRT1165042	hsa-miR-4446-3p	CLIP-seq
MIRT1165043	hsa-miR-4455	CLIP-seq
MIRT1165044	hsa-miR-4458	CLIP-seq
MIRT1165045	hsa-miR-4459	CLIP-seq
MIRT1165046	hsa-miR-4468	CLIP-seq
MIRT1165047	hsa-miR-4477b	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT1165049	hsa-miR-4483	CLIP-seq
MIRT1165050	hsa-miR-4495	CLIP-seq
MIRT1165051	hsa-miR-4500	CLIP-seq
MIRT1165052	hsa-miR-4510	CLIP-seq
MIRT1165053	hsa-miR-4517	CLIP-seq
MIRT1165054	hsa-miR-451b	CLIP-seq
MIRT1165055	hsa-miR-4533	CLIP-seq
MIRT1165056	hsa-miR-4642	CLIP-seq
MIRT1165057	hsa-miR-4643	CLIP-seq
MIRT1165058	hsa-miR-4646-5p	CLIP-seq
MIRT1165059	hsa-miR-4649-3p	CLIP-seq
MIRT1165060	hsa-miR-4651	CLIP-seq
MIRT1165061	hsa-miR-4655-5p	CLIP-seq
MIRT1165062	hsa-miR-4659a-3p	CLIP-seq
MIRT1165063	hsa-miR-4659a-5p	CLIP-seq
MIRT1165064	hsa-miR-4659b-3p	CLIP-seq
MIRT1165065	hsa-miR-4659b-5p	CLIP-seq
MIRT1165066	hsa-miR-466	CLIP-seq
MIRT1165067	hsa-miR-4664-5p	CLIP-seq
MIRT1165068	hsa-miR-4668-5p	CLIP-seq
MIRT1165069	hsa-miR-4694-3p	CLIP-seq
MIRT1165070	hsa-miR-4695-5p	CLIP-seq
MIRT1165071	hsa-miR-4701-3p	CLIP-seq
MIRT1165072	hsa-miR-4703-3p	CLIP-seq
MIRT1165073	hsa-miR-4714-5p	CLIP-seq
MIRT1165074	hsa-miR-4717-3p	CLIP-seq
MIRT1165075	hsa-miR-4722-3p	CLIP-seq
MIRT1165076	hsa-miR-4722-5p	CLIP-seq
MIRT1165077	hsa-miR-4724-3p	CLIP-seq
MIRT1165078	hsa-miR-4724-5p	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT1165080	hsa-miR-4732-5p	CLIP-seq
MIRT1165081	hsa-miR-4755-3p	CLIP-seq
MIRT1165082	hsa-miR-4762-3p	CLIP-seq
MIRT1165083	hsa-miR-4763-3p	CLIP-seq
MIRT1165084	hsa-miR-4768-3p	CLIP-seq
MIRT1165085	hsa-miR-4768-5p	CLIP-seq
MIRT1165086	hsa-miR-4773	CLIP-seq
MIRT1165087	hsa-miR-4774-3p	CLIP-seq
MIRT1165088	hsa-miR-4778-3p	CLIP-seq
MIRT1165089	hsa-miR-4789-3p	CLIP-seq
MIRT1165090	hsa-miR-4802-3p	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165092	hsa-miR-487a	CLIP-seq
MIRT1165093	hsa-miR-493	CLIP-seq
MIRT1165094	hsa-miR-497	CLIP-seq
MIRT1165095	hsa-miR-500a	CLIP-seq
MIRT1165096	hsa-miR-501-3p	CLIP-seq
MIRT1165097	hsa-miR-502-3p	CLIP-seq
MIRT1165098	hsa-miR-506	CLIP-seq
MIRT1165099	hsa-miR-509-3-5p	CLIP-seq
MIRT1165100	hsa-miR-509-5p	CLIP-seq
MIRT1165101	hsa-miR-512-5p	CLIP-seq
MIRT1165102	hsa-miR-514	CLIP-seq
MIRT1165103	hsa-miR-514b-3p	CLIP-seq
MIRT1165104	hsa-miR-516b	CLIP-seq
MIRT1165105	hsa-miR-520a-5p	CLIP-seq
MIRT1165106	hsa-miR-525-5p	CLIP-seq
MIRT1165107	hsa-miR-532-3p	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT1165109	hsa-miR-548a-3p	CLIP-seq
MIRT1165110	hsa-miR-548ae	CLIP-seq
MIRT1165111	hsa-miR-548aj	CLIP-seq
MIRT1165112	hsa-miR-548am	CLIP-seq
MIRT1165113	hsa-miR-548an	CLIP-seq
MIRT1165114	hsa-miR-548e	CLIP-seq
MIRT1165115	hsa-miR-548f	CLIP-seq
MIRT1165116	hsa-miR-548g	CLIP-seq
MIRT1165117	hsa-miR-548l	CLIP-seq
MIRT1165118	hsa-miR-548x	CLIP-seq
MIRT1165119	hsa-miR-562	CLIP-seq
MIRT1165120	hsa-miR-577	CLIP-seq
MIRT1165121	hsa-miR-608	CLIP-seq
MIRT1165122	hsa-miR-609	CLIP-seq
MIRT1165123	hsa-miR-635	CLIP-seq
MIRT1165124	hsa-miR-641	CLIP-seq
MIRT1165125	hsa-miR-650	CLIP-seq
MIRT1165126	hsa-miR-653	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT1165128	hsa-miR-664	CLIP-seq
MIRT1165129	hsa-miR-665	CLIP-seq
MIRT1165130	hsa-miR-758	CLIP-seq
MIRT1165131	hsa-miR-761	CLIP-seq
MIRT1165132	hsa-miR-767-3p	CLIP-seq
MIRT1165133	hsa-miR-875-3p	CLIP-seq
MIRT1165134	hsa-miR-885-3p	CLIP-seq
MIRT1165135	hsa-miR-889	CLIP-seq
MIRT1165136	hsa-miR-922	CLIP-seq
MIRT1165137	hsa-miR-935	CLIP-seq
MIRT1165138	hsa-miR-940	CLIP-seq
MIRT1165139	hsa-miR-98	CLIP-seq
MIRT1164920	hsa-miR-103b	CLIP-seq
MIRT1164923	hsa-miR-1207-5p	CLIP-seq
MIRT2047667	hsa-miR-1226	CLIP-seq
MIRT2047668	hsa-miR-1229	CLIP-seq
MIRT2047669	hsa-miR-1269	CLIP-seq
MIRT2047670	hsa-miR-1269b	CLIP-seq
MIRT2047671	hsa-miR-1273	CLIP-seq
MIRT2047672	hsa-miR-1279	CLIP-seq
MIRT1164935	hsa-miR-129-5p	CLIP-seq
MIRT2047673	hsa-miR-1297	CLIP-seq
MIRT1164936	hsa-miR-1298	CLIP-seq
MIRT2047674	hsa-miR-1301	CLIP-seq
MIRT2047675	hsa-miR-1304	CLIP-seq
MIRT1164937	hsa-miR-1324	CLIP-seq
MIRT2047676	hsa-miR-140-3p	CLIP-seq
MIRT2047677	hsa-miR-145	CLIP-seq
MIRT1164940	hsa-miR-15a	CLIP-seq
MIRT1164941	hsa-miR-15b	CLIP-seq
MIRT1164942	hsa-miR-16	CLIP-seq
MIRT1164943	hsa-miR-1827	CLIP-seq
MIRT2047678	hsa-miR-1908	CLIP-seq
MIRT1164944	hsa-miR-195	CLIP-seq
MIRT1164946	hsa-miR-19a	CLIP-seq
MIRT1164947	hsa-miR-19b	CLIP-seq
MIRT1164953	hsa-miR-205	CLIP-seq
MIRT1164954	hsa-miR-2114	CLIP-seq
MIRT1164955	hsa-miR-2115	CLIP-seq
MIRT1164956	hsa-miR-214	CLIP-seq
MIRT2047679	hsa-miR-221	CLIP-seq
MIRT2047680	hsa-miR-222	CLIP-seq
MIRT1164957	hsa-miR-2276	CLIP-seq
MIRT2047681	hsa-miR-26a	CLIP-seq
MIRT2047682	hsa-miR-26b	CLIP-seq
MIRT2047683	hsa-miR-299-5p	CLIP-seq
MIRT2047684	hsa-miR-29a	CLIP-seq
MIRT2047685	hsa-miR-29b	CLIP-seq
MIRT2047686	hsa-miR-29c	CLIP-seq
MIRT1164967	hsa-miR-3120-3p	CLIP-seq
MIRT2047687	hsa-miR-3122	CLIP-seq
MIRT1164970	hsa-miR-3127-5p	CLIP-seq
MIRT1164974	hsa-miR-3149	CLIP-seq
MIRT1164977	hsa-miR-3155	CLIP-seq
MIRT1164978	hsa-miR-3155b	CLIP-seq
MIRT1164980	hsa-miR-3158-3p	CLIP-seq
MIRT2047688	hsa-miR-3163	CLIP-seq
MIRT1164983	hsa-miR-3180-5p	CLIP-seq
MIRT2047689	hsa-miR-338-3p	CLIP-seq
MIRT2047690	hsa-miR-339-3p	CLIP-seq
MIRT2047691	hsa-miR-340	CLIP-seq
MIRT1164992	hsa-miR-3612	CLIP-seq
MIRT2047692	hsa-miR-361-5p	CLIP-seq
MIRT1164994	hsa-miR-3617	CLIP-seq
MIRT1164995	hsa-miR-3619-5p	CLIP-seq
MIRT2047693	hsa-miR-3657	CLIP-seq
MIRT2047694	hsa-miR-3662	CLIP-seq
MIRT1165000	hsa-miR-3664-5p	CLIP-seq
MIRT2047695	hsa-miR-3667-3p	CLIP-seq
MIRT2047696	hsa-miR-3677-5p	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT2047697	hsa-miR-3913-5p	CLIP-seq
MIRT1165013	hsa-miR-3914	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT2047698	hsa-miR-3944-5p	CLIP-seq
MIRT1165019	hsa-miR-424	CLIP-seq
MIRT2047699	hsa-miR-4266	CLIP-seq
MIRT2047700	hsa-miR-4272	CLIP-seq
MIRT1165025	hsa-miR-4274	CLIP-seq
MIRT1165028	hsa-miR-4284	CLIP-seq
MIRT1165030	hsa-miR-4291	CLIP-seq
MIRT2047701	hsa-miR-4310	CLIP-seq
MIRT2047702	hsa-miR-432	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT2047703	hsa-miR-4421	CLIP-seq
MIRT1165039	hsa-miR-4427	CLIP-seq
MIRT1165040	hsa-miR-4436b-5p	CLIP-seq
MIRT1165041	hsa-miR-4443	CLIP-seq
MIRT1165042	hsa-miR-4446-3p	CLIP-seq
MIRT1165045	hsa-miR-4459	CLIP-seq
MIRT2047704	hsa-miR-4465	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT2047705	hsa-miR-4486	CLIP-seq
MIRT2047706	hsa-miR-4494	CLIP-seq
MIRT2047707	hsa-miR-4519	CLIP-seq
MIRT2047708	hsa-miR-4529-3p	CLIP-seq
MIRT1165059	hsa-miR-4649-3p	CLIP-seq
MIRT2047709	hsa-miR-4649-5p	CLIP-seq
MIRT1165062	hsa-miR-4659a-3p	CLIP-seq
MIRT1165064	hsa-miR-4659b-3p	CLIP-seq
MIRT2047710	hsa-miR-4660	CLIP-seq
MIRT2047711	hsa-miR-4668-3p	CLIP-seq
MIRT2047712	hsa-miR-4684-5p	CLIP-seq
MIRT2047713	hsa-miR-4691-5p	CLIP-seq
MIRT2047714	hsa-miR-4696	CLIP-seq
MIRT2047715	hsa-miR-4698	CLIP-seq
MIRT1165073	hsa-miR-4714-5p	CLIP-seq
MIRT1165076	hsa-miR-4722-5p	CLIP-seq
MIRT1165077	hsa-miR-4724-3p	CLIP-seq
MIRT1165078	hsa-miR-4724-5p	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT2047716	hsa-miR-4729	CLIP-seq
MIRT2047717	hsa-miR-4733-3p	CLIP-seq
MIRT1165082	hsa-miR-4762-3p	CLIP-seq
MIRT1165083	hsa-miR-4763-3p	CLIP-seq
MIRT1165084	hsa-miR-4768-3p	CLIP-seq
MIRT2047718	hsa-miR-4772-3p	CLIP-seq
MIRT2047719	hsa-miR-4775	CLIP-seq
MIRT2047720	hsa-miR-4793-3p	CLIP-seq
MIRT1165090	hsa-miR-4802-3p	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165094	hsa-miR-497	CLIP-seq
MIRT2047721	hsa-miR-499a-5p	CLIP-seq
MIRT1165095	hsa-miR-500a	CLIP-seq
MIRT2047722	hsa-miR-5047	CLIP-seq
MIRT2047723	hsa-miR-508-5p	CLIP-seq
MIRT2047724	hsa-miR-5096	CLIP-seq
MIRT2047725	hsa-miR-513a-5p	CLIP-seq
MIRT1165104	hsa-miR-516b	CLIP-seq
MIRT1165105	hsa-miR-520a-5p	CLIP-seq
MIRT1165106	hsa-miR-525-5p	CLIP-seq
MIRT2047726	hsa-miR-532-5p	CLIP-seq
MIRT2047727	hsa-miR-539	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT2047728	hsa-miR-544	CLIP-seq
MIRT2047729	hsa-miR-548v	CLIP-seq
MIRT2047730	hsa-miR-552	CLIP-seq
MIRT2047731	hsa-miR-590-3p	CLIP-seq
MIRT2047732	hsa-miR-617	CLIP-seq
MIRT1165124	hsa-miR-641	CLIP-seq
MIRT1165125	hsa-miR-650	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT2047733	hsa-miR-659	CLIP-seq
MIRT2047734	hsa-miR-660	CLIP-seq
MIRT2047735	hsa-miR-661	CLIP-seq
MIRT2047736	hsa-miR-663	CLIP-seq
MIRT1165131	hsa-miR-761	CLIP-seq
MIRT2047737	hsa-miR-766	CLIP-seq
MIRT2047738	hsa-miR-767-5p	CLIP-seq
MIRT2047739	hsa-miR-873	CLIP-seq
MIRT1165137	hsa-miR-935	CLIP-seq
MIRT1165138	hsa-miR-940	CLIP-seq
MIRT2047740	hsa-miR-942	CLIP-seq
MIRT1164920	hsa-miR-103b	CLIP-seq
MIRT1164921	hsa-miR-1184	CLIP-seq
MIRT1164923	hsa-miR-1207-5p	CLIP-seq
MIRT2047668	hsa-miR-1229	CLIP-seq
MIRT1164926	hsa-miR-1255a	CLIP-seq
MIRT1164927	hsa-miR-1255b	CLIP-seq
MIRT2047669	hsa-miR-1269	CLIP-seq
MIRT2047670	hsa-miR-1269b	CLIP-seq
MIRT2276485	hsa-miR-1270	CLIP-seq
MIRT2047671	hsa-miR-1273	CLIP-seq
MIRT2276486	hsa-miR-1273f	CLIP-seq
MIRT2047672	hsa-miR-1279	CLIP-seq
MIRT2276487	hsa-miR-128	CLIP-seq
MIRT1164935	hsa-miR-129-5p	CLIP-seq
MIRT2047673	hsa-miR-1297	CLIP-seq
MIRT1164936	hsa-miR-1298	CLIP-seq
MIRT2276488	hsa-miR-1321	CLIP-seq
MIRT1164937	hsa-miR-1324	CLIP-seq
MIRT2047676	hsa-miR-140-3p	CLIP-seq
MIRT2276489	hsa-miR-146a	CLIP-seq
MIRT2276490	hsa-miR-146b-5p	CLIP-seq
MIRT1164940	hsa-miR-15a	CLIP-seq
MIRT1164941	hsa-miR-15b	CLIP-seq
MIRT1164942	hsa-miR-16	CLIP-seq
MIRT1164943	hsa-miR-1827	CLIP-seq
MIRT2047678	hsa-miR-1908	CLIP-seq
MIRT1164944	hsa-miR-195	CLIP-seq
MIRT1164946	hsa-miR-19a	CLIP-seq
MIRT1164947	hsa-miR-19b	CLIP-seq
MIRT1164952	hsa-miR-203	CLIP-seq
MIRT1164953	hsa-miR-205	CLIP-seq
MIRT1164954	hsa-miR-2114	CLIP-seq
MIRT1164955	hsa-miR-2115	CLIP-seq
MIRT1164957	hsa-miR-2276	CLIP-seq
MIRT2047681	hsa-miR-26a	CLIP-seq
MIRT2047682	hsa-miR-26b	CLIP-seq
MIRT2276491	hsa-miR-28-3p	CLIP-seq
MIRT2276492	hsa-miR-3074-3p	CLIP-seq
MIRT1164961	hsa-miR-30a	CLIP-seq
MIRT1164962	hsa-miR-30b	CLIP-seq
MIRT1164963	hsa-miR-30c	CLIP-seq
MIRT1164964	hsa-miR-30d	CLIP-seq
MIRT1164965	hsa-miR-30e	CLIP-seq
MIRT2276493	hsa-miR-31	CLIP-seq
MIRT2276494	hsa-miR-3117-5p	CLIP-seq
MIRT1164967	hsa-miR-3120-3p	CLIP-seq
MIRT2276495	hsa-miR-3121-3p	CLIP-seq
MIRT2047687	hsa-miR-3122	CLIP-seq
MIRT1164968	hsa-miR-3124-3p	CLIP-seq
MIRT1164970	hsa-miR-3127-5p	CLIP-seq
MIRT1164972	hsa-miR-3140-5p	CLIP-seq
MIRT1164974	hsa-miR-3149	CLIP-seq
MIRT2276496	hsa-miR-3157-5p	CLIP-seq
MIRT1164980	hsa-miR-3158-3p	CLIP-seq
MIRT2276497	hsa-miR-3160-5p	CLIP-seq
MIRT2276498	hsa-miR-3162-5p	CLIP-seq
MIRT1164982	hsa-miR-3170	CLIP-seq
MIRT1164983	hsa-miR-3180-5p	CLIP-seq
MIRT2276499	hsa-miR-324-5p	CLIP-seq
MIRT2047689	hsa-miR-338-3p	CLIP-seq
MIRT1164990	hsa-miR-34c-3p	CLIP-seq
MIRT2276500	hsa-miR-3607-3p	CLIP-seq
MIRT1164992	hsa-miR-3612	CLIP-seq
MIRT2276501	hsa-miR-3613-3p	CLIP-seq
MIRT1164993	hsa-miR-3614-5p	CLIP-seq
MIRT2047692	hsa-miR-361-5p	CLIP-seq
MIRT1164994	hsa-miR-3617	CLIP-seq
MIRT2276502	hsa-miR-3622a-3p	CLIP-seq
MIRT2276503	hsa-miR-3622b-3p	CLIP-seq
MIRT1164996	hsa-miR-3622b-5p	CLIP-seq
MIRT2047693	hsa-miR-3657	CLIP-seq
MIRT1164999	hsa-miR-3663-3p	CLIP-seq
MIRT1165000	hsa-miR-3664-5p	CLIP-seq
MIRT2047695	hsa-miR-3667-3p	CLIP-seq
MIRT2276504	hsa-miR-3686	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT1165005	hsa-miR-370	CLIP-seq
MIRT1165007	hsa-miR-371-5p	CLIP-seq
MIRT2047697	hsa-miR-3913-5p	CLIP-seq
MIRT1165013	hsa-miR-3914	CLIP-seq
MIRT2276505	hsa-miR-3925-5p	CLIP-seq
MIRT1165015	hsa-miR-3928	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT2276506	hsa-miR-3936	CLIP-seq
MIRT1165019	hsa-miR-424	CLIP-seq
MIRT1165020	hsa-miR-4251	CLIP-seq
MIRT1165025	hsa-miR-4274	CLIP-seq
MIRT1165030	hsa-miR-4291	CLIP-seq
MIRT2047701	hsa-miR-4310	CLIP-seq
MIRT2276507	hsa-miR-4315	CLIP-seq
MIRT2047702	hsa-miR-432	CLIP-seq
MIRT1165036	hsa-miR-4418	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT2047703	hsa-miR-4421	CLIP-seq
MIRT1165039	hsa-miR-4427	CLIP-seq
MIRT1165041	hsa-miR-4443	CLIP-seq
MIRT1165042	hsa-miR-4446-3p	CLIP-seq
MIRT1165043	hsa-miR-4455	CLIP-seq
MIRT1165045	hsa-miR-4459	CLIP-seq
MIRT2047704	hsa-miR-4465	CLIP-seq
MIRT2276508	hsa-miR-4475	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT2047705	hsa-miR-4486	CLIP-seq
MIRT1165054	hsa-miR-451b	CLIP-seq
MIRT2276509	hsa-miR-4521	CLIP-seq
MIRT2047708	hsa-miR-4529-3p	CLIP-seq
MIRT2276510	hsa-miR-4531	CLIP-seq
MIRT1165056	hsa-miR-4642	CLIP-seq
MIRT1165059	hsa-miR-4649-3p	CLIP-seq
MIRT2047709	hsa-miR-4649-5p	CLIP-seq
MIRT1165060	hsa-miR-4651	CLIP-seq
MIRT1165061	hsa-miR-4655-5p	CLIP-seq
MIRT2276511	hsa-miR-4662a-5p	CLIP-seq
MIRT2276512	hsa-miR-4670-3p	CLIP-seq
MIRT2276513	hsa-miR-4675	CLIP-seq
MIRT2276514	hsa-miR-4677-5p	CLIP-seq
MIRT2276515	hsa-miR-4683	CLIP-seq
MIRT2047712	hsa-miR-4684-5p	CLIP-seq
MIRT2276516	hsa-miR-4691-3p	CLIP-seq
MIRT2047713	hsa-miR-4691-5p	CLIP-seq
MIRT2276517	hsa-miR-4693-3p	CLIP-seq
MIRT2276518	hsa-miR-4694-5p	CLIP-seq
MIRT1165070	hsa-miR-4695-5p	CLIP-seq
MIRT1165073	hsa-miR-4714-5p	CLIP-seq
MIRT1165074	hsa-miR-4717-3p	CLIP-seq
MIRT1165076	hsa-miR-4722-5p	CLIP-seq
MIRT1165078	hsa-miR-4724-5p	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT2047716	hsa-miR-4729	CLIP-seq
MIRT2276519	hsa-miR-4739	CLIP-seq
MIRT2276520	hsa-miR-4741	CLIP-seq
MIRT2276521	hsa-miR-4756-5p	CLIP-seq
MIRT1165083	hsa-miR-4763-3p	CLIP-seq
MIRT1165084	hsa-miR-4768-3p	CLIP-seq
MIRT1165086	hsa-miR-4773	CLIP-seq
MIRT2047720	hsa-miR-4793-3p	CLIP-seq
MIRT2276522	hsa-miR-4797-5p	CLIP-seq
MIRT1165090	hsa-miR-4802-3p	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165092	hsa-miR-487a	CLIP-seq
MIRT1165094	hsa-miR-497	CLIP-seq
MIRT2047723	hsa-miR-508-5p	CLIP-seq
MIRT1165099	hsa-miR-509-3-5p	CLIP-seq
MIRT1165100	hsa-miR-509-5p	CLIP-seq
MIRT2047725	hsa-miR-513a-5p	CLIP-seq
MIRT1165104	hsa-miR-516b	CLIP-seq
MIRT1165105	hsa-miR-520a-5p	CLIP-seq
MIRT1165106	hsa-miR-525-5p	CLIP-seq
MIRT2047727	hsa-miR-539	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT2276523	hsa-miR-545	CLIP-seq
MIRT1165109	hsa-miR-548a-3p	CLIP-seq
MIRT2276524	hsa-miR-548aa	CLIP-seq
MIRT2276525	hsa-miR-548ac	CLIP-seq
MIRT1165110	hsa-miR-548ae	CLIP-seq
MIRT2276526	hsa-miR-548ag	CLIP-seq
MIRT2276527	hsa-miR-548ai	CLIP-seq
MIRT1165111	hsa-miR-548aj	CLIP-seq
MIRT1165112	hsa-miR-548am	CLIP-seq
MIRT2276528	hsa-miR-548d-3p	CLIP-seq
MIRT1165114	hsa-miR-548e	CLIP-seq
MIRT1165115	hsa-miR-548f	CLIP-seq
MIRT2276529	hsa-miR-548m	CLIP-seq
MIRT1165118	hsa-miR-548x	CLIP-seq
MIRT2276530	hsa-miR-548z	CLIP-seq
MIRT2276531	hsa-miR-556-5p	CLIP-seq
MIRT1165120	hsa-miR-577	CLIP-seq
MIRT2276532	hsa-miR-589	CLIP-seq
MIRT2276533	hsa-miR-593	CLIP-seq
MIRT2276534	hsa-miR-595	CLIP-seq
MIRT1165121	hsa-miR-608	CLIP-seq
MIRT2047732	hsa-miR-617	CLIP-seq
MIRT2276535	hsa-miR-620	CLIP-seq
MIRT1165123	hsa-miR-635	CLIP-seq
MIRT1165124	hsa-miR-641	CLIP-seq
MIRT1165125	hsa-miR-650	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT2047735	hsa-miR-661	CLIP-seq
MIRT2047736	hsa-miR-663	CLIP-seq
MIRT1165129	hsa-miR-665	CLIP-seq
MIRT2276536	hsa-miR-759	CLIP-seq
MIRT2047737	hsa-miR-766	CLIP-seq
MIRT1165132	hsa-miR-767-3p	CLIP-seq
MIRT2047738	hsa-miR-767-5p	CLIP-seq
MIRT2047739	hsa-miR-873	CLIP-seq
MIRT2276537	hsa-miR-9	CLIP-seq
MIRT1165138	hsa-miR-940	CLIP-seq
MIRT2047740	hsa-miR-942	CLIP-seq
MIRT2047669	hsa-miR-1269	CLIP-seq
MIRT2047670	hsa-miR-1269b	CLIP-seq
MIRT2391172	hsa-miR-1273e	CLIP-seq
MIRT2047674	hsa-miR-1301	CLIP-seq
MIRT1164943	hsa-miR-1827	CLIP-seq
MIRT1164946	hsa-miR-19a	CLIP-seq
MIRT1164947	hsa-miR-19b	CLIP-seq
MIRT1164954	hsa-miR-2114	CLIP-seq
MIRT2047687	hsa-miR-3122	CLIP-seq
MIRT1164983	hsa-miR-3180-5p	CLIP-seq
MIRT2047689	hsa-miR-338-3p	CLIP-seq
MIRT1164992	hsa-miR-3612	CLIP-seq
MIRT1164996	hsa-miR-3622b-5p	CLIP-seq
MIRT1165000	hsa-miR-3664-5p	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT2047697	hsa-miR-3913-5p	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT2047698	hsa-miR-3944-5p	CLIP-seq
MIRT2391173	hsa-miR-4287	CLIP-seq
MIRT2047701	hsa-miR-4310	CLIP-seq
MIRT2047702	hsa-miR-432	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT1165041	hsa-miR-4443	CLIP-seq
MIRT1165045	hsa-miR-4459	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT2047708	hsa-miR-4529-3p	CLIP-seq
MIRT1165059	hsa-miR-4649-3p	CLIP-seq
MIRT2047710	hsa-miR-4660	CLIP-seq
MIRT2276515	hsa-miR-4683	CLIP-seq
MIRT2391174	hsa-miR-4685-3p	CLIP-seq
MIRT2047713	hsa-miR-4691-5p	CLIP-seq
MIRT1165073	hsa-miR-4714-5p	CLIP-seq
MIRT1165076	hsa-miR-4722-5p	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT1165084	hsa-miR-4768-3p	CLIP-seq
MIRT2391175	hsa-miR-4793-5p	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165096	hsa-miR-501-3p	CLIP-seq
MIRT1165097	hsa-miR-502-3p	CLIP-seq
MIRT2047722	hsa-miR-5047	CLIP-seq
MIRT1165104	hsa-miR-516b	CLIP-seq
MIRT1165105	hsa-miR-520a-5p	CLIP-seq
MIRT1165106	hsa-miR-525-5p	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT2047732	hsa-miR-617	CLIP-seq
MIRT1165125	hsa-miR-650	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT1165129	hsa-miR-665	CLIP-seq
MIRT2047738	hsa-miR-767-5p	CLIP-seq
MIRT1165138	hsa-miR-940	CLIP-seq
MIRT2431289	hsa-miR-2909	CLIP-seq
MIRT2431290	hsa-miR-3064-5p	CLIP-seq
MIRT2431291	hsa-miR-3682-5p	CLIP-seq
MIRT2431292	hsa-miR-4278	CLIP-seq
MIRT2431293	hsa-miR-4682	CLIP-seq
MIRT2431294	hsa-miR-892b	CLIP-seq
MIRT1164924	hsa-miR-1224-3p	CLIP-seq
MIRT2047667	hsa-miR-1226	CLIP-seq
MIRT1164928	hsa-miR-1260	CLIP-seq
MIRT1164929	hsa-miR-1260b	CLIP-seq
MIRT1164931	hsa-miR-1280	CLIP-seq
MIRT2047683	hsa-miR-299-5p	CLIP-seq
MIRT2047687	hsa-miR-3122	CLIP-seq
MIRT1164972	hsa-miR-3140-5p	CLIP-seq
MIRT2047689	hsa-miR-338-3p	CLIP-seq
MIRT1164998	hsa-miR-3647-3p	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT2047697	hsa-miR-3913-5p	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT2047701	hsa-miR-4310	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT1165039	hsa-miR-4427	CLIP-seq
MIRT2454581	hsa-miR-4438	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT2047717	hsa-miR-4733-3p	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165096	hsa-miR-501-3p	CLIP-seq
MIRT1165097	hsa-miR-502-3p	CLIP-seq
MIRT2454582	hsa-miR-5095	CLIP-seq
MIRT1165107	hsa-miR-532-3p	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT2454583	hsa-miR-629	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT2047667	hsa-miR-1226	CLIP-seq
MIRT1164998	hsa-miR-3647-3p	CLIP-seq
MIRT2047717	hsa-miR-4733-3p	CLIP-seq
MIRT1165096	hsa-miR-501-3p	CLIP-seq
MIRT1165097	hsa-miR-502-3p	CLIP-seq
MIRT1164921	hsa-miR-1184	CLIP-seq
MIRT2575360	hsa-miR-1205	CLIP-seq
MIRT1164924	hsa-miR-1224-3p	CLIP-seq
MIRT2047667	hsa-miR-1226	CLIP-seq
MIRT1164928	hsa-miR-1260	CLIP-seq
MIRT1164929	hsa-miR-1260b	CLIP-seq
MIRT2047669	hsa-miR-1269	CLIP-seq
MIRT2047670	hsa-miR-1269b	CLIP-seq
MIRT2047671	hsa-miR-1273	CLIP-seq
MIRT2047672	hsa-miR-1279	CLIP-seq
MIRT2276487	hsa-miR-128	CLIP-seq
MIRT1164931	hsa-miR-1280	CLIP-seq
MIRT2575361	hsa-miR-1287	CLIP-seq
MIRT2575362	hsa-miR-129-3p	CLIP-seq
MIRT1164935	hsa-miR-129-5p	CLIP-seq
MIRT2276489	hsa-miR-146a	CLIP-seq
MIRT2276490	hsa-miR-146b-5p	CLIP-seq
MIRT1164943	hsa-miR-1827	CLIP-seq
MIRT2575363	hsa-miR-18a	CLIP-seq
MIRT2575364	hsa-miR-18b	CLIP-seq
MIRT2047678	hsa-miR-1908	CLIP-seq
MIRT1164953	hsa-miR-205	CLIP-seq
MIRT1164954	hsa-miR-2114	CLIP-seq
MIRT2047683	hsa-miR-299-5p	CLIP-seq
MIRT2276494	hsa-miR-3117-5p	CLIP-seq
MIRT2047687	hsa-miR-3122	CLIP-seq
MIRT2575365	hsa-miR-3135b	CLIP-seq
MIRT1164971	hsa-miR-3140-3p	CLIP-seq
MIRT1164972	hsa-miR-3140-5p	CLIP-seq
MIRT2575366	hsa-miR-3143	CLIP-seq
MIRT1164974	hsa-miR-3149	CLIP-seq
MIRT2575367	hsa-miR-3158-5p	CLIP-seq
MIRT2575368	hsa-miR-3177-3p	CLIP-seq
MIRT1164983	hsa-miR-3180-5p	CLIP-seq
MIRT2047689	hsa-miR-338-3p	CLIP-seq
MIRT2047690	hsa-miR-339-3p	CLIP-seq
MIRT1164992	hsa-miR-3612	CLIP-seq
MIRT2276501	hsa-miR-3613-3p	CLIP-seq
MIRT2047693	hsa-miR-3657	CLIP-seq
MIRT1165000	hsa-miR-3664-5p	CLIP-seq
MIRT2047696	hsa-miR-3677-5p	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT2047697	hsa-miR-3913-5p	CLIP-seq
MIRT2276505	hsa-miR-3925-5p	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT2575369	hsa-miR-3941	CLIP-seq
MIRT2575370	hsa-miR-3974	CLIP-seq
MIRT1165020	hsa-miR-4251	CLIP-seq
MIRT2575371	hsa-miR-4282	CLIP-seq
MIRT1165032	hsa-miR-431	CLIP-seq
MIRT2047701	hsa-miR-4310	CLIP-seq
MIRT2047702	hsa-miR-432	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT2047703	hsa-miR-4421	CLIP-seq
MIRT1165039	hsa-miR-4427	CLIP-seq
MIRT2454581	hsa-miR-4438	CLIP-seq
MIRT1165041	hsa-miR-4443	CLIP-seq
MIRT1165043	hsa-miR-4455	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT2047705	hsa-miR-4486	CLIP-seq
MIRT2575372	hsa-miR-450b-5p	CLIP-seq
MIRT2047707	hsa-miR-4519	CLIP-seq
MIRT1165054	hsa-miR-451b	CLIP-seq
MIRT2047708	hsa-miR-4529-3p	CLIP-seq
MIRT2575373	hsa-miR-4540	CLIP-seq
MIRT2575374	hsa-miR-4638-3p	CLIP-seq
MIRT1165057	hsa-miR-4643	CLIP-seq
MIRT1165059	hsa-miR-4649-3p	CLIP-seq
MIRT2047709	hsa-miR-4649-5p	CLIP-seq
MIRT1165066	hsa-miR-466	CLIP-seq
MIRT2575375	hsa-miR-4671-5p	CLIP-seq
MIRT2575376	hsa-miR-4672	CLIP-seq
MIRT2047712	hsa-miR-4684-5p	CLIP-seq
MIRT2047713	hsa-miR-4691-5p	CLIP-seq
MIRT2047714	hsa-miR-4696	CLIP-seq
MIRT2575377	hsa-miR-4701-5p	CLIP-seq
MIRT1165073	hsa-miR-4714-5p	CLIP-seq
MIRT1165076	hsa-miR-4722-5p	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT2047717	hsa-miR-4733-3p	CLIP-seq
MIRT2575378	hsa-miR-4735-3p	CLIP-seq
MIRT1165084	hsa-miR-4768-3p	CLIP-seq
MIRT1165086	hsa-miR-4773	CLIP-seq
MIRT2575379	hsa-miR-4776-3p	CLIP-seq
MIRT1165089	hsa-miR-4789-3p	CLIP-seq
MIRT2047720	hsa-miR-4793-3p	CLIP-seq
MIRT2575380	hsa-miR-4803	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165096	hsa-miR-501-3p	CLIP-seq
MIRT1165097	hsa-miR-502-3p	CLIP-seq
MIRT2575381	hsa-miR-505	CLIP-seq
MIRT2575382	hsa-miR-507	CLIP-seq
MIRT2047723	hsa-miR-508-5p	CLIP-seq
MIRT2454582	hsa-miR-5095	CLIP-seq
MIRT2575383	hsa-miR-513a-3p	CLIP-seq
MIRT1165104	hsa-miR-516b	CLIP-seq
MIRT2575384	hsa-miR-518a-5p	CLIP-seq
MIRT1165105	hsa-miR-520a-5p	CLIP-seq
MIRT1165106	hsa-miR-525-5p	CLIP-seq
MIRT2575385	hsa-miR-527	CLIP-seq
MIRT1165107	hsa-miR-532-3p	CLIP-seq
MIRT2047726	hsa-miR-532-5p	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT2047728	hsa-miR-544	CLIP-seq
MIRT1165109	hsa-miR-548a-3p	CLIP-seq
MIRT2575386	hsa-miR-548a-5p	CLIP-seq
MIRT2575387	hsa-miR-548ab	CLIP-seq
MIRT2276525	hsa-miR-548ac	CLIP-seq
MIRT2575388	hsa-miR-548ad	CLIP-seq
MIRT1165110	hsa-miR-548ae	CLIP-seq
MIRT1165111	hsa-miR-548aj	CLIP-seq
MIRT2575389	hsa-miR-548ak	CLIP-seq
MIRT1165112	hsa-miR-548am	CLIP-seq
MIRT2575390	hsa-miR-548b-5p	CLIP-seq
MIRT2575391	hsa-miR-548c-5p	CLIP-seq
MIRT2276528	hsa-miR-548d-3p	CLIP-seq
MIRT2575392	hsa-miR-548d-5p	CLIP-seq
MIRT1165114	hsa-miR-548e	CLIP-seq
MIRT1165115	hsa-miR-548f	CLIP-seq
MIRT2575393	hsa-miR-548h	CLIP-seq
MIRT2575394	hsa-miR-548i	CLIP-seq
MIRT2575395	hsa-miR-548j	CLIP-seq
MIRT2575396	hsa-miR-548w	CLIP-seq
MIRT1165118	hsa-miR-548x	CLIP-seq
MIRT2575397	hsa-miR-548y	CLIP-seq
MIRT2276530	hsa-miR-548z	CLIP-seq
MIRT2047730	hsa-miR-552	CLIP-seq
MIRT2575398	hsa-miR-557	CLIP-seq
MIRT2575399	hsa-miR-559	CLIP-seq
MIRT2575400	hsa-miR-571	CLIP-seq
MIRT2575401	hsa-miR-588	CLIP-seq
MIRT2276532	hsa-miR-589	CLIP-seq
MIRT2276533	hsa-miR-593	CLIP-seq
MIRT2047732	hsa-miR-617	CLIP-seq
MIRT2454583	hsa-miR-629	CLIP-seq
MIRT1165125	hsa-miR-650	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT2047735	hsa-miR-661	CLIP-seq
MIRT2047736	hsa-miR-663	CLIP-seq
MIRT2575402	hsa-miR-671-5p	CLIP-seq
MIRT2047737	hsa-miR-766	CLIP-seq
MIRT1165132	hsa-miR-767-3p	CLIP-seq
MIRT2047738	hsa-miR-767-5p	CLIP-seq
MIRT2575403	hsa-miR-938	CLIP-seq
MIRT1165138	hsa-miR-940	CLIP-seq
MIRT1164921	hsa-miR-1184	CLIP-seq
MIRT2575360	hsa-miR-1205	CLIP-seq
MIRT1164924	hsa-miR-1224-3p	CLIP-seq
MIRT2047667	hsa-miR-1226	CLIP-seq
MIRT1164928	hsa-miR-1260	CLIP-seq
MIRT1164929	hsa-miR-1260b	CLIP-seq
MIRT2047672	hsa-miR-1279	CLIP-seq
MIRT2276487	hsa-miR-128	CLIP-seq
MIRT1164931	hsa-miR-1280	CLIP-seq
MIRT2575361	hsa-miR-1287	CLIP-seq
MIRT1164935	hsa-miR-129-5p	CLIP-seq
MIRT2276489	hsa-miR-146a	CLIP-seq
MIRT2276490	hsa-miR-146b-5p	CLIP-seq
MIRT1164953	hsa-miR-205	CLIP-seq
MIRT1164954	hsa-miR-2114	CLIP-seq
MIRT1164957	hsa-miR-2276	CLIP-seq
MIRT2047683	hsa-miR-299-5p	CLIP-seq
MIRT2276494	hsa-miR-3117-5p	CLIP-seq
MIRT2047687	hsa-miR-3122	CLIP-seq
MIRT2575365	hsa-miR-3135b	CLIP-seq
MIRT1164971	hsa-miR-3140-3p	CLIP-seq
MIRT1164972	hsa-miR-3140-5p	CLIP-seq
MIRT1164974	hsa-miR-3149	CLIP-seq
MIRT2575367	hsa-miR-3158-5p	CLIP-seq
MIRT2047689	hsa-miR-338-3p	CLIP-seq
MIRT2047690	hsa-miR-339-3p	CLIP-seq
MIRT1164992	hsa-miR-3612	CLIP-seq
MIRT2047693	hsa-miR-3657	CLIP-seq
MIRT1165000	hsa-miR-3664-5p	CLIP-seq
MIRT2047696	hsa-miR-3677-5p	CLIP-seq
MIRT1165001	hsa-miR-3689a-3p	CLIP-seq
MIRT1165002	hsa-miR-3689c	CLIP-seq
MIRT2047697	hsa-miR-3913-5p	CLIP-seq
MIRT1165016	hsa-miR-3929	CLIP-seq
MIRT2575369	hsa-miR-3941	CLIP-seq
MIRT2575370	hsa-miR-3974	CLIP-seq
MIRT1165020	hsa-miR-4251	CLIP-seq
MIRT1165032	hsa-miR-431	CLIP-seq
MIRT2047701	hsa-miR-4310	CLIP-seq
MIRT1165038	hsa-miR-4419b	CLIP-seq
MIRT2047703	hsa-miR-4421	CLIP-seq
MIRT1165039	hsa-miR-4427	CLIP-seq
MIRT2454581	hsa-miR-4438	CLIP-seq
MIRT1165041	hsa-miR-4443	CLIP-seq
MIRT1165048	hsa-miR-4478	CLIP-seq
MIRT2575372	hsa-miR-450b-5p	CLIP-seq
MIRT2047707	hsa-miR-4519	CLIP-seq
MIRT1165054	hsa-miR-451b	CLIP-seq
MIRT2575373	hsa-miR-4540	CLIP-seq
MIRT2575374	hsa-miR-4638-3p	CLIP-seq
MIRT1165057	hsa-miR-4643	CLIP-seq
MIRT1165066	hsa-miR-466	CLIP-seq
MIRT2575375	hsa-miR-4671-5p	CLIP-seq
MIRT2575376	hsa-miR-4672	CLIP-seq
MIRT2047712	hsa-miR-4684-5p	CLIP-seq
MIRT2047713	hsa-miR-4691-5p	CLIP-seq
MIRT2047714	hsa-miR-4696	CLIP-seq
MIRT2575377	hsa-miR-4701-5p	CLIP-seq
MIRT1165073	hsa-miR-4714-5p	CLIP-seq
MIRT1165079	hsa-miR-4728-5p	CLIP-seq
MIRT2047717	hsa-miR-4733-3p	CLIP-seq
MIRT2047718	hsa-miR-4772-3p	CLIP-seq
MIRT2047719	hsa-miR-4775	CLIP-seq
MIRT2575379	hsa-miR-4776-3p	CLIP-seq
MIRT1165089	hsa-miR-4789-3p	CLIP-seq
MIRT1165091	hsa-miR-485-5p	CLIP-seq
MIRT1165096	hsa-miR-501-3p	CLIP-seq
MIRT1165097	hsa-miR-502-3p	CLIP-seq
MIRT2575381	hsa-miR-505	CLIP-seq
MIRT2575382	hsa-miR-507	CLIP-seq
MIRT2047723	hsa-miR-508-5p	CLIP-seq
MIRT2454582	hsa-miR-5095	CLIP-seq
MIRT1165104	hsa-miR-516b	CLIP-seq
MIRT2575384	hsa-miR-518a-5p	CLIP-seq
MIRT2575385	hsa-miR-527	CLIP-seq
MIRT1165107	hsa-miR-532-3p	CLIP-seq
MIRT2047726	hsa-miR-532-5p	CLIP-seq
MIRT1165108	hsa-miR-541	CLIP-seq
MIRT2047728	hsa-miR-544	CLIP-seq
MIRT1165109	hsa-miR-548a-3p	CLIP-seq
MIRT2575388	hsa-miR-548ad	CLIP-seq
MIRT1165114	hsa-miR-548e	CLIP-seq
MIRT1165115	hsa-miR-548f	CLIP-seq
MIRT2047730	hsa-miR-552	CLIP-seq
MIRT2575398	hsa-miR-557	CLIP-seq
MIRT2575400	hsa-miR-571	CLIP-seq
MIRT2575401	hsa-miR-588	CLIP-seq
MIRT2276532	hsa-miR-589	CLIP-seq
MIRT2047731	hsa-miR-590-3p	CLIP-seq
MIRT2276533	hsa-miR-593	CLIP-seq
MIRT2454583	hsa-miR-629	CLIP-seq
MIRT1165125	hsa-miR-650	CLIP-seq
MIRT1165127	hsa-miR-654-5p	CLIP-seq
MIRT2575402	hsa-miR-671-5p	CLIP-seq
MIRT1165132	hsa-miR-767-3p	CLIP-seq
MIRT2047738	hsa-miR-767-5p	CLIP-seq
MIRT2575403	hsa-miR-938	CLIP-seq

Gene ontology (GO) Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000096	Process	Sulfur amino acid metabolic process	TAS
GO:0005515	Function	Protein binding	IPI	17288554, 23825108, 27771510
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0007399	Process	Nervous system development	TAS	8968737
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0008705	Function	Methionine synthase activity	IBA
GO:0008705	Function	Methionine synthase activity	IDA	16769880
GO:0008705	Function	Methionine synthase activity	IEA
GO:0008705	Function	Methionine synthase activity	IMP	23825108
GO:0009086	Process	Methionine biosynthetic process	IBA
GO:0009086	Process	Methionine biosynthetic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IMP	23825108
GO:0009235	Process	Cobalamin metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	IMP	23825108
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0031103	Process	Axon regeneration	IEA
GO:0031103	Process	Axon regeneration	ISS
GO:0031419	Function	Cobalamin binding	IEA
GO:0032259	Process	Methylation	IEA
GO:0032259	Process	Methylation	TAS
GO:0042558	Process	Pteridine-containing compound metabolic process	IEA
GO:0046653	Process	Tetrahydrofolate metabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0048678	Process	Response to axon injury	ISS
GO:0050667	Process	Homocysteine metabolic process	IBA
GO:0071267	Process	L-methionine salvage	IEA
GO:0071732	Process	Cellular response to nitric oxide	IEA
GO:0071732	Process	Cellular response to nitric oxide	ISS

Other IDs

• MIM: 156570
• HGNC: 7468
• e!Ensembl: ENSG00000116984

Protein

• UniProt ID: Q99707
• Protein name: Methionine synthase (MS) (EC 2.1.1.13) (5-methyltetrahydrofolate--homocysteine methyltransferase) (Cobalamin-dependent methionine synthase) (Vitamin-B12 dependent methionine synthase)
• Protein function: Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:16769880, PubMed:17288554, PubMed:27771510). MeCbl is an active form of cobalami
• PDB: 2O2K , 4CCZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00809	Pterin_bind	375 → 613	Pterin binding enzyme	Domain
  PF02310	B12-binding	773 → 874	B12 binding domain	Domain
  PF02574	S-methyl_trans	31 → 338	Homocysteine S-methyltransferase	Family
  PF02607	B12-binding_2	671 → 748	B12 binding domain	Domain
  PF02965	Met_synt_B12	965 → 1246	Vitamin B12 dependent methionine synthase, activation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta (PubMed:8968735, PubMed:8968737). Expressed at lower levels in lung, liver and kidney (PubMed:8968735, PubMed:8968737). {ECO:0000
• Sequence:

  MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHA
  RPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMC
  SAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQA
  KGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFISGTIVDKSGRTLSGQT
  GEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDET
  PSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGL
  EPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDG
  MLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDD
  FLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNI
  LTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLY
  HAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKV
  IQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVG
  DLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREETRVLNGTVEEEDPYQGTIVLATV
  KGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEM
  IFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDEN
  LKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQV
  FEDYDLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTL
  ISQKKLRARGVVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYY
  CLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEE
  LHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTG
  IRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPIL
  GYDTD

• Sequence length: 1265

Pathways

KEGG Pathway	Reactome Pathway
Cysteine and methionine metabolism	Methylation
Selenocompound metabolism	Sulfur amino acid metabolism
One carbon pool by folate	Cobalamin (Cbl, vitamin B12) transport and metabolism
Metabolic pathways	Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
Biosynthesis of amino acids	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
Cobalamin transport and metabolism
Folate transport and metabolism

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 (11)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Decreased methionine synthase activity	Pathogenic; Likely pathogenic	rs121913578, rs1190777785	RCV001003947 RCV001003946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorders of Intracellular Cobalamin Metabolism	Pathogenic	rs121913578	RCV000778974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic	rs121913578	RCV000162189	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria	Pathogenic; Likely pathogenic	rs121913578, rs1190777785	RCV001003947 RCV001003946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1324468065	RCV005626831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs1664661222	RCV005913543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylcobalamin deficiency type cblG	Pathogenic; Likely pathogenic	rs752526782, rs1666006480, rs1400658126, rs1558334603, rs138695265, rs778242201, rs2103130072, rs774231870, rs2147922731, rs762727293, rs1664521219, rs794727395, rs1343645070, rs2528337010, rs2528074679, rs772951826, rs776216297, rs2527985401, rs1176062955, rs2528537380, rs2527909396, rs2527833447, rs2528160239, rs1666192928, rs2528435985, rs2528436693, rs2527985163, rs2527854627, rs1324468065, rs1664661129, rs2528240978, rs1663042244, rs2528522105, rs781320871, rs2527974254, rs778563154, rs121913578, rs121913579, rs1661117141, rs797044444, rs797044445, rs121913580, rs121913581, rs752220849, rs192346180, rs765288116, rs2528250134, rs763288919, rs764980259, rs2528240695, rs1572218599, rs2528537363, rs2528177941, rs915986128, rs1269957639, rs2528436006, rs768968736, rs776165231, rs2527889197, rs1666295144, rs767201867, rs2528336317, rs2528241635, rs1180704409, rs1665948819, rs2528336328, rs1346847201, rs536238004, rs145939391, rs1572278166, rs1572309822, rs201718371, rs1662641467, rs1664661222, rs1661544157, rs757963570, rs1224783275, rs1664669480, rs1665277406	RCV001353054 RCV001353055 RCV001782469 RCV003514527 RCV001823618 RCV001837425 RCV001993759 RCV001900088 RCV002033483 RCV001996785 RCV002250130 RCV003514322 RCV002580621 RCV002880567 RCV002996912 RCV005019557 RCV005102850 RCV003629269 RCV003514640 RCV003514684 RCV003514711 RCV003514762 RCV003515287 RCV003515355 RCV003515608 RCV003515610 RCV003513807 RCV003516287 RCV003516288 RCV003516289 RCV003515047 RCV003515794 RCV003514844 RCV003515901 RCV003516102 RCV003515865 RCV000015348 RCV000015350 RCV000015351 RCV000015352 RCV000015354 RCV000015356 RCV000015357 RCV003516004 RCV003629302 RCV003629528 RCV003629572 RCV003630480 RCV003630449 RCV003630644 RCV003630657 RCV003630872 RCV003631009 RCV003631046 RCV003631073 RCV003628747 RCV003629656 RCV003629687 RCV003830230 RCV003835380 RCV003845356 RCV003840798 RCV003865344 RCV003875962 RCV003869900 RCV003990400 RCV003768229 RCV003514413 RCV003514412 RCV000803188 RCV000805410 RCV000805089 RCV000795006 RCV001071198 RCV001059608 RCV001198173 RCV001195906 RCV001244091 RCV001250117 RCV001250118	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MTR-related disorder	Likely pathogenic; Pathogenic	rs1359827243, rs1176062955, rs2528524023, rs121913578	RCV003393052 RCV003421021 RCV003408410 RCV005229796	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural tube defects, folate-sensitive	Likely pathogenic; Pathogenic	rs1400658126, rs138695265, rs772951826, rs121913580	RCV005006049 RCV005006080 RCV005019557 RCV005016268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound intellectual disability	Pathogenic	rs121913578	RCV000162189	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic	rs1666295144	RCV005935002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (51)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	17595805	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	21254359	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	21254359	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASES	—	CTD	19159907	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES	—	CTD	19159907	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGICAL DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG TYPE	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	16861746	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	16799656	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR	—	CTD	16410450	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALNUTRITION	—	CTD, Disgenet CTD, Disgenet	16709328	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defects, folate-sensitive, susceptibility to	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (293)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	26154858		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16013960, 17454638, 19775302, 21643952, 22838948		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15319544		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	17726616		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	19124508		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	14744749, 19124508, 22407825, 23593229, 31740010, 9886567		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11986237, 15159311, 16013960, 17454638, 21643952, 22838948		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12648076		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15201366	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28785215		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	9453374		★☆☆☆☆ Found in Text Mining only
Anemia Macrocytic	Macrocytic anemia	Pubtator	25526710	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	9501215	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Neonatal	Neonatal anemia	Pubtator	3828532	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	9501215		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31264108, 31693750		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31264108, 31693750		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20871623	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	20871623	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	20727711		★☆☆☆☆ Found in Text Mining only
Arakawa syndrome 2	Arakawa Syndrome	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	17551576		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	20718043		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	23650422	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28250422, 29407547		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18031821, 19440165, 23437274, 28094822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	23437274	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	28094822	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20826009, 26475045, 29109461, 29212505, 31186441		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16861746		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12648076, 23818366		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	17726616		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	17417062, 22713400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17417062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15117811, 17311259, 17574963, 18815869, 19588544, 19837268		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15117811		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	30140937		★☆☆☆☆ Found in Text Mining only
Brachydactyly Type E	Brachydactyly	Pubtator	31951343	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	31074192		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27851995		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	18483342		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17311260, 17896178, 18842997, 19240236, 19389261, 19706843, 19838916, 20111902, 21105050, 21792634, 22134752, 23155246, 23845785, 25217320, 25270516, 25366783, 27173331, 27347936, 27404801, 28889078		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17595805, 19240236, 19389261, 19706843, 25217320, 27347936, 27404801	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Digestive System	Gastric Cancer	BEFREE	23613867		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17726616		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25337902	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15117811, 17311259, 17574963, 18815869, 19588544, 19837268		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16006998, 17468511, 17533396, 21605004, 28537809		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	38168585	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11406421, 8968736, 8968737		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27316508, 32068834	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	21688148	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	28701995		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	31074192		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17461517	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	11460881, 30255416		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15589597, 18351371, 19760026, 23864153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	15514969, 19760026, 23864153		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18351371, 19760026, 23864153		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16013960, 17454638, 20101025, 21643952, 22838948, 22941668, 23650422, 23906019, 30559146		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CTD_human_DG	15753437		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11592445		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23595572		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	25716564, 27167580	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	25526710, 25625218	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30345468		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25625218	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18700049	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16284371, 19776626		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21603981	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10498402, 15598777, 15637738, 17164363, 18996879, 20615890, 22719222, 23593229, 24377513, 31740010		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19776626, 20615890, 21603981, 22719222, 29925788, 31740010, 38514198	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19177501, 21097530		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	27822905	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	LHGDN	15202865		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17227731		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	15202865, 23798577, 24595101, 30911047		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	30165839	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	30165839, 30911047		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11672761, 12893022		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10487496, 11672761, 12893022, 16268464, 18844488		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11672761, 12893022, 15202865, 19777601, 20718043, 21780915, 23701284, 23798577, 24595101, 30084801, 30911047		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	12893022		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17925002		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	18034637		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15201366		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	15201366	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	10604745, 28337205, 28831591, 31237780		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	37531512	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	18801628, 19244396, 3425320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	18801628, 27111719, 30878208, 31183915, 31437741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	37628752	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	9501215, 9683607	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35631247, 36313769	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12707940		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12648076		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12626825, 12923861, 14656028, 15889417, 16115349, 16845273, 17702010, 18060320, 18273817, 18983896, 19729796, 20718043, 20868477, 21045269, 24068460, 24150725, 24965145		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	12923861, 18273817		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	15585767, 18060320	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31951343	Inhibit	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	16519922		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26337056		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	17855192		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17904392, 21543238, 28161091		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15790587		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15790587		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16333305	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	20445573		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	30064122		★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	15585767, 26266420, 35631247, 9501215	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	18815869, 26154858, 26266420		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	CTD_human_DG	19159907		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	CTD_human_DG	19159907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	17726616	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17119065, 18483342		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17119065		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17119065		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	15894670		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20490431	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	21385350	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26035828, 30911047, 37296303	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	29293099	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	CTD_human_DG	19159907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	17595805	Associate	★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	31818257		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	12068375, 15714522, 9266389		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria	Homocystinuria	Pubtator	3828532	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria	Homocystinuria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria	Homocystinuria	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Huntington Disease	Huntington Disease	BEFREE	15354395		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	27998939	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	29392753		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	11460881, 12476935, 15820491, 19263808, 21947961, 29532755, 8968737, 9327029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	LHGDN	12068375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	12068375, 9501215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	19263808		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	15234281		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	38168585	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12372672, 29027843, 30658262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21737517		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	17339646, 27111719, 27613119, 30200902, 30345468, 31214113, 31374461, 31766124		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20085490		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	18799873		★☆☆☆☆ Found in Text Mining only
Intrinsic Factor Deficiency	Intrinsic Factor Deficiency	BEFREE	16846473		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11672761, 17461517		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30986126		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11592445		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	21956592		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20101025	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24261678		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20101025	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20101025		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CTD_human_DG	15753437		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	27804858		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	19332728, 30373566		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11131452, 22138536		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11131452		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12154064		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17664238, 28943344		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17664238		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	22577119		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11342450, 15138479, 15551285	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	15551285, 23818366, 28742198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CTD_human_DG	16799656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	15198953	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	15198953, 16410450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	CTD_human_DG	16410450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular, Grade 1	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 2	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 3	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell, Follicular	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12648076, 15159311, 15198953, 21055808, 24956146		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	24956146		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Cleaved-Cell, Follicular	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	9587028		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17311260, 17896178, 18842997, 19240236, 19389261, 19706843, 19838916, 20111902, 21105050, 21792634, 22134752, 23155246, 23845785, 25217320, 25270516, 25366783, 27173331, 27347936, 27404801, 28889078		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15790587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	19649727		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25337902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16006998, 17468511, 17533396, 21605004, 28537809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18843018		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20852008, 23459165, 23724740, 27808252, 30064122, 30337500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17220339, 25337902, 26833750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15117811, 17311259, 17574963, 18815869, 19588544, 19837268		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11406421, 15735045, 17726616, 19826453, 23593229, 24261678, 25531253, 29310321, 29474406, 31573834		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18351371, 19760026, 23864153		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16284371, 19776626		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	CTD_human_DG	16709328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18842997		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19240236		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Megaloblastic Anemia 1	Anemia	BEFREE	16846473		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	8494045	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meniere Disease	Meniere Disease	BEFREE	23560644		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18447718		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	18801628, 3425320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	18801628, 27111719, 30878208, 31183915, 31437741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylcobalamin deficiency type cblG	Methylcobalamin Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylcobalamin Deficiency, CblG Type	Methylcobalamin Deficiency	CLINVAR_DG	12068375		★☆☆☆☆ Found in Text Mining only
Methylcobalamin Deficiency, CblG Type	Methylcobalamin Deficiency	GENOMICS_ENGLAND_DG	12068375, 27604308, 28666289		★☆☆☆☆ Found in Text Mining only
Methylcobalamin Deficiency, CblG Type	Methylcobalamin Deficiency	UNIPROT_DG	8968736, 8968737		★☆☆☆☆ Found in Text Mining only
Methylcobalamin Deficiency, CblG Type	Methylcobalamin Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	32068834	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	15953655		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	23430981		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	20951500, 29021778		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12648076, 17546637, 17655928		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17546637	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17546637	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10604745, 11196661, 14575907, 17024427, 17262996, 17454451, 17854833, 19398961, 20625377, 20727711, 20826009, 20951500, 22688425, 22922127, 23594042, 23918546, 24080309, 24099750, 24174586, 24495857, 24552748, 25439752, 25701091, 25914168, 26185143, 26584349, 27050759, 27207450, 27479807, 27559181, 27633800, 27635051, 28080255, 28105588, 28148635, 28192476, 28273784, 28387629, 28495140, 28531809, 28755038, 28769921, 28785215, 28805691, 28863941, 28987266, 29021778, 29409597, 29455074, 29722639, 29753215, 29755324, 30130707, 30190700, 30229853, 30243994, 30315270, 30315901, 30417928, 30579155, 30587061, 30590025, 30619037, 30632248, 30671056, 30679225, 30716530, 30771724, 30806958, 30853896, 30873106, 30877925, 31031747, 31038186, 31040210, 31096850, 31139683, 31139690, 31141529, 31143968, 31146082, 31170500, 31174092, 31175576, 31233379, 31237780, 31255988, 31356922, 31400557, 31422457, 31437741, 31445221, 31466733, 31519178, 31536557, 31588832, 31603362, 31604244, 31617776, 31653054, 31678859, 31715501, 31725411, 31760365, 31790618, 31803396, 31816524, 31824409, 31835207, 9546337		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25625218	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	20231665		★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	28210839		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28115831		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11257268, 11672761, 15820491, 18844488, 21780915		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	31576507		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12154064, 12730865, 14506892, 17967524, 19501504, 21603981, 26595280, 27380905		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23437274		★☆☆☆☆ Found in Text Mining only
Neural tube defect, folate-sensitive	Neural Tube Defect	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defect, folate-sensitive	Neural Tube Defect	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	10323741, 10332959, 10444343, 10833329, 12111380, 12649067, 12812837, 15979034, 23266814, 23425389, 23438943, 23489792, 24326202, 25293959, 26334892, 28770393, 30848279, 8968736, 8968737, 9327029		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	LHGDN	12111380, 12810988		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25293959, 26334892, 30848279	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24771227		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27804858, 28603768, 29755324, 30548333, 31588832		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	17853476		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	20541774, 28427704, 30426010, 31401379, 31835207		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	19332728, 30373566		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	26196053		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20737570, 21605004		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17993766		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	16861746		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	29637998		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18843018		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18843018		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29474406	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17691219, 21070756, 28387629, 28603768		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31679459		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31679459		★☆☆☆☆ Found in Text Mining only
Pleocytosis	CSF pleocytosis	BEFREE	12849268		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29232372		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15201366		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	15138479		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20852008, 23459165, 23724740, 27808252, 30064122, 30337500		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27808252, 28724269, 32770085	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20310006, 26595280		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17611986, 20727711, 28821984, 29796841		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17417062, 28788104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17417062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophreniform Disorders	Schizophreniform Disorders	BEFREE	29212505		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	34103408	Associate	★☆☆☆☆ Found in Text Mining only
Severe depression	Mental Depression	BEFREE	18801628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe depression	Mental Depression	PSYGENET_DG	18801628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	17533396		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	29753215		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	12375236		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	12649067, 12812837, 19493349, 29392753, 9327028		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	30140937		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16333305		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16333305, 17726616		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17596206, 20490431	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15894670, 17596206, 20490431, 22051736		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17220339, 17726616, 25337902, 26833750		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25840420	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31369821		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11406421		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	11406421		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	30690631, 31678859		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	25858821		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18700049		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	18700049		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33952249	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	20532609		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24089416	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	30315901		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	27097558		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	11257268, 9327029, 9974410		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	17287836		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	21688148, 9501215	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	29293099		★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	15063399, 19832808		★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15612980	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MTRR 7 shared diseasesIntracellular cobalamin metabolism disorder, Heart disease, Homocystinuria with megaloblastic anemia, Hyperhomocysteinemia, Male infertility, Neural tube defect, Neural tube defects, folate-sensitive 6 shared pathwaysCobalamin transport and metabolism, Cobalamin (Cbl, vitamin B12) transport and metabolism, Methylation, Sulfur amino acid metabolism, Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE, Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 9 shared evidence sourcesClinVar (Intracellular cobalamin metabolism disorder), Disgenet (Heart disease), HPO (Homocystinuria with megaloblastic anemia), Disgenet (Hyperhomocysteinemia), CTD (Male infertility), Disgenet (Male infertility), CTD (Neural tube defect), Disgenet (Neural tube defect), ClinVar (Neural tube defects, folate-sensitive) Related via 7 shared diseases including Intracellular cobalamin metabolism disorder, Heart disease — evidence mostly Disgenet. BHMT2 3 shared diseasesCleft lip, Cleft palate, Complete unilateral cleft lip 4 shared pathwaysCysteine and methionine metabolism, One carbon pool by folate, Folate transport and metabolism, Sulfur amino acid metabolism 5 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip) Related via 4 shared pathways including Cysteine and methionine metabolism, One carbon pool by folate — evidence mostly Disgenet. MTHFD1 5 shared diseasesCleft lip, Cleft palate, Complete unilateral cleft lip, Neural tube defect, Neural tube defects, folate-sensitive 2 shared pathwaysOne carbon pool by folate, Folate transport and metabolism 6 shared evidence sourcesDisgenet (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip), CTD (Neural tube defect), Disgenet (Neural tube defect), ClinVar (Neural tube defects, folate-sensitive) Related via 5 shared diseases including Cleft lip, Cleft palate — evidence mostly Disgenet. MTHFS 3 shared diseasesCleft lip, Cleft palate, Complete unilateral cleft lip 2 shared pathwaysOne carbon pool by folate, Folate transport and metabolism 5 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip) Related via 3 shared diseases including Cleft lip, Cleft palate — evidence mostly Disgenet. CBS 4 shared diseasesIschemic stroke, Hyperhomocysteinemia, Malnutrition, Neural tube defect 3 shared pathwaysCysteine and methionine metabolism, One carbon pool by folate, Biosynthesis of amino acids 5 shared evidence sourcesDisgenet (Ischemic stroke), Disgenet (Hyperhomocysteinemia), CTD (Malnutrition), Disgenet (Malnutrition), Disgenet (Neural tube defect) Related via 4 shared diseases including Ischemic stroke, Hyperhomocysteinemia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MTRR	7	["Intracellular cobalamin metabolism disorder","Heart disease","Homocystinuria with megaloblastic anemia","Hyperhomocysteinemia","Male infertility","Neural tube defect","Neural tube defects, folate-sensitive"]	6	["Cobalamin transport and metabolism","Cobalamin (Cbl, vitamin B12) transport and metabolism","Methylation","Sulfur amino acid metabolism","Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE","Defective MTR causes methylmalonic aciduria and homocystinuria type cblG"]	9	["ClinVar (Intracellular cobalamin metabolism disorder)","Disgenet (Heart disease)","HPO (Homocystinuria with megaloblastic anemia)","Disgenet (Hyperhomocysteinemia)","CTD (Male infertility)","Disgenet (Male infertility)","CTD (Neural tube defect)","Disgenet (Neural tube defect)","ClinVar (Neural tube defects, folate-sensitive)"]
BHMT2	3	["Cleft lip","Cleft palate","Complete unilateral cleft lip"]	4	["Cysteine and methionine metabolism","One carbon pool by folate","Folate transport and metabolism","Sulfur amino acid metabolism"]	5	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)"]
MTHFD1	5	["Cleft lip","Cleft palate","Complete unilateral cleft lip","Neural tube defect","Neural tube defects, folate-sensitive"]	2	["One carbon pool by folate","Folate transport and metabolism"]	6	["Disgenet (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)","CTD (Neural tube defect)","Disgenet (Neural tube defect)","ClinVar (Neural tube defects, folate-sensitive)"]
MTHFS	3	["Cleft lip","Cleft palate","Complete unilateral cleft lip"]	2	["One carbon pool by folate","Folate transport and metabolism"]	5	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)"]
CBS	4	["Ischemic stroke","Hyperhomocysteinemia","Malnutrition","Neural tube defect"]	3	["Cysteine and methionine metabolism","One carbon pool by folate","Biosynthesis of amino acids"]	5	["Disgenet (Ischemic stroke)","Disgenet (Hyperhomocysteinemia)","CTD (Malnutrition)","Disgenet (Malnutrition)","Disgenet (Neural tube defect)"]

Diseases Linked via Similar Genes

Neural tube defects, x-linked Linked via 2 of 5 related genesMTHFD1, CBS Anencephaly Linked via 1 of 5 related genesMTRR Aprosencephaly Linked via 1 of 5 related genesMTRR Ulcerative colitis Linked via 1 of 5 related genesMTRR Colorectal neoplasms Linked via 1 of 5 related genesMTRR

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Neural tube defects, x-linked	2	["MTHFD1","CBS"]
Anencephaly	1	["MTRR"]
Aprosencephaly	1	["MTRR"]
Ulcerative colitis	1	["MTRR"]
Colorectal neoplasms	1	["MTRR"]