MTHFR (methylenetetrahydrofolate reductase)

Gene

• Entrez ID: 4524
• Gene name: Methylenetetrahydrofolate reductase
• Gene symbol: MTHFR
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801131	T>G	Benign, benign-likely-benign, other, risk-factor, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs1801133	G>A,C	Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity, drug-response, other, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs2066464	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs34279942	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs45449298	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs45590836	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs79157191	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs115049252	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, intron variant, coding sequence variant
rs121434294	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121434295	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434296	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121434297	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138189536	G>A	Pathogenic, likely-benign	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs139645527	C>A,G	Conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs140277700	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs142612062	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs142617551	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs144921426	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147257424	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs150847674	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200100285	T>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200137991	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs267606886	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267606887	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs367585605	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs368321176	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs373398993	A>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs377443637	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs543016186	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs574132670	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs746353274	TTC>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs747846362	C>A	Pathogenic	Splice donor variant
rs748571395	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs749765738	A>C,G	Pathogenic	Splice donor variant
rs750323424	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs754980119	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs758206023	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs759031330	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs763539350	G>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, missense variant
rs765586205	C>T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs769381688	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs769953411	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs776483190	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs776734688	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant, initiator codon variant
rs776969786	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant, stop gained
rs777661576	C>T	Pathogenic	Intron variant
rs780014899	T>-	Pathogenic	Splice acceptor variant
rs786204007	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs786204009	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786204010	->TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG	Pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs786204012	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204013	T>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204014	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204016	TGA>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs786204017	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204018	C>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204019	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204020	C>A,T	Pathogenic	Splice donor variant
rs786204021	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204022	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204023	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204024	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204026	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204027	A>C,G	Pathogenic	Splice donor variant
rs786204028	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs786204030	C>T	Pathogenic, risk-factor	Coding sequence variant, stop gained, non coding transcript variant
rs786204031	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204034	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs786204035	CA>AC	Pathogenic	Coding sequence variant, intron variant, stop gained, inframe indel
rs786204037	A>G,T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs986604359	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1057519359	C>T	Pathogenic	Splice donor variant
rs1057519360	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519361	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519362	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057519363	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1553185069	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553185497	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553187509	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1553188112	AG>-	Pathogenic	Intron variant
rs1557761665	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027114	hsa-miR-103a-3p	Sequencing	20371350
MIRT031648	hsa-miR-16-5p	Sequencing	20371350
MIRT042604	hsa-miR-423-3p	CLASH	23622248
MIRT618790	hsa-miR-1972	HITS-CLIP	23824327
MIRT618789	hsa-miR-4480	HITS-CLIP	23824327
MIRT618788	hsa-miR-3978	HITS-CLIP	23824327
MIRT550618	hsa-miR-4318	PAR-CLIP	21572407
MIRT550619	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT550617	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031648	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT550616	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT550615	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT550614	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT550613	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT550611	hsa-miR-4476	PAR-CLIP	21572407
MIRT550612	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT550610	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT550609	hsa-miR-6814-5p	PAR-CLIP	21572407
MIRT550608	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT550607	hsa-miR-766-5p	PAR-CLIP	21572407
MIRT550606	hsa-miR-7154-3p	PAR-CLIP	21572407
MIRT550605	hsa-miR-765	PAR-CLIP	21572407
MIRT550604	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT550603	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT472857	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT472855	hsa-miR-764	PAR-CLIP	23592263
MIRT472854	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT472853	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT472852	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT472851	hsa-miR-5698	PAR-CLIP	23592263
MIRT472850	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT472848	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT472849	hsa-miR-4525	PAR-CLIP	23592263
MIRT472847	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT472846	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT472845	hsa-miR-4447	PAR-CLIP	23592263
MIRT472844	hsa-miR-4472	PAR-CLIP	23592263
MIRT472843	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT734975	hsa-miR-22-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	28045918
MIRT731665	hsa-miR-149-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	28045918
MIRT731665	hsa-miR-149-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	28045918
MIRT734975	hsa-miR-22-3p	Luciferase reporter assay, Immunoprecipitaion (IP), Immunofluorescence, Flow cytometry	33168819
MIRT618790	hsa-miR-1972	HITS-CLIP	23824327
MIRT618789	hsa-miR-4480	HITS-CLIP	23824327
MIRT618788	hsa-miR-3978	HITS-CLIP	23824327
MIRT550618	hsa-miR-4318	PAR-CLIP	21572407
MIRT550619	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT550617	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031648	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT550616	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT550615	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT550614	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT550613	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT550611	hsa-miR-4476	PAR-CLIP	21572407
MIRT550612	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT550610	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT550609	hsa-miR-6814-5p	PAR-CLIP	21572407
MIRT550608	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT550607	hsa-miR-766-5p	PAR-CLIP	21572407
MIRT550606	hsa-miR-7154-3p	PAR-CLIP	21572407
MIRT550605	hsa-miR-765	PAR-CLIP	21572407
MIRT550604	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT550603	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT472857	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT472855	hsa-miR-764	PAR-CLIP	23592263
MIRT472854	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT472853	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT472852	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT472851	hsa-miR-5698	PAR-CLIP	23592263
MIRT472850	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT472848	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT472849	hsa-miR-4525	PAR-CLIP	23592263
MIRT472847	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT472846	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT472845	hsa-miR-4447	PAR-CLIP	23592263
MIRT472844	hsa-miR-4472	PAR-CLIP	23592263
MIRT472843	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT734975	hsa-miR-22-3p	Luciferase reporter assay, Western blotting	37799388
MIRT1163290	hsa-miR-103a	CLIP-seq
MIRT1163291	hsa-miR-103b	CLIP-seq
MIRT1163292	hsa-miR-107	CLIP-seq
MIRT1163293	hsa-miR-1184	CLIP-seq
MIRT1163294	hsa-miR-1197	CLIP-seq
MIRT1163295	hsa-miR-1200	CLIP-seq
MIRT1163296	hsa-miR-1202	CLIP-seq
MIRT1163297	hsa-miR-1207-3p	CLIP-seq
MIRT1163298	hsa-miR-1224-3p	CLIP-seq
MIRT1163299	hsa-miR-1227	CLIP-seq
MIRT1163300	hsa-miR-1245	CLIP-seq
MIRT1163301	hsa-miR-1245b-3p	CLIP-seq
MIRT1163302	hsa-miR-1252	CLIP-seq
MIRT1163303	hsa-miR-1260	CLIP-seq
MIRT1163304	hsa-miR-1260b	CLIP-seq
MIRT1163305	hsa-miR-1266	CLIP-seq
MIRT1163306	hsa-miR-1275	CLIP-seq
MIRT1163307	hsa-miR-1279	CLIP-seq
MIRT1163308	hsa-miR-1280	CLIP-seq
MIRT1163309	hsa-miR-1289	CLIP-seq
MIRT1163310	hsa-miR-1292	CLIP-seq
MIRT1163311	hsa-miR-129-3p	CLIP-seq
MIRT1163312	hsa-miR-1297	CLIP-seq
MIRT1163313	hsa-miR-182	CLIP-seq
MIRT1163314	hsa-miR-185	CLIP-seq
MIRT1163315	hsa-miR-18a	CLIP-seq
MIRT1163316	hsa-miR-18b	CLIP-seq
MIRT1163317	hsa-miR-1909	CLIP-seq
MIRT1163318	hsa-miR-200b	CLIP-seq
MIRT1163319	hsa-miR-200c	CLIP-seq
MIRT1163320	hsa-miR-26a	CLIP-seq
MIRT1163321	hsa-miR-26b	CLIP-seq
MIRT1163322	hsa-miR-2861	CLIP-seq
MIRT1163323	hsa-miR-296-5p	CLIP-seq
MIRT1163324	hsa-miR-3140-5p	CLIP-seq
MIRT1163325	hsa-miR-3144-5p	CLIP-seq
MIRT1163326	hsa-miR-3148	CLIP-seq
MIRT1163327	hsa-miR-3158-3p	CLIP-seq
MIRT1163328	hsa-miR-3170	CLIP-seq
MIRT1163329	hsa-miR-3175	CLIP-seq
MIRT1163330	hsa-miR-3176	CLIP-seq
MIRT1163331	hsa-miR-3180-5p	CLIP-seq
MIRT1163332	hsa-miR-3183	CLIP-seq
MIRT1163333	hsa-miR-3184	CLIP-seq
MIRT1163334	hsa-miR-3191	CLIP-seq
MIRT1163335	hsa-miR-3194-3p	CLIP-seq
MIRT1163336	hsa-miR-3198	CLIP-seq
MIRT1163337	hsa-miR-320e	CLIP-seq
MIRT1163338	hsa-miR-326	CLIP-seq
MIRT1163339	hsa-miR-330-5p	CLIP-seq
MIRT1163340	hsa-miR-339-3p	CLIP-seq
MIRT1163341	hsa-miR-3609	CLIP-seq
MIRT1163342	hsa-miR-3612	CLIP-seq
MIRT1163343	hsa-miR-3651	CLIP-seq
MIRT1163344	hsa-miR-3663-5p	CLIP-seq
MIRT1163345	hsa-miR-3664-3p	CLIP-seq
MIRT1163346	hsa-miR-3689d	CLIP-seq
MIRT1163347	hsa-miR-3922-3p	CLIP-seq
MIRT1163348	hsa-miR-3934	CLIP-seq
MIRT1163349	hsa-miR-3944-5p	CLIP-seq
MIRT1163350	hsa-miR-3972	CLIP-seq
MIRT1163351	hsa-miR-423-5p	CLIP-seq
MIRT1163352	hsa-miR-425	CLIP-seq
MIRT1163353	hsa-miR-4259	CLIP-seq
MIRT1163354	hsa-miR-4274	CLIP-seq
MIRT1163355	hsa-miR-4279	CLIP-seq
MIRT1163356	hsa-miR-429	CLIP-seq
MIRT1163357	hsa-miR-4294	CLIP-seq
MIRT1163358	hsa-miR-4299	CLIP-seq
MIRT1163359	hsa-miR-4306	CLIP-seq
MIRT1163360	hsa-miR-4309	CLIP-seq
MIRT1163361	hsa-miR-4313	CLIP-seq
MIRT1163362	hsa-miR-4323	CLIP-seq
MIRT1163363	hsa-miR-4324	CLIP-seq
MIRT1163364	hsa-miR-4330	CLIP-seq
MIRT1163365	hsa-miR-4418	CLIP-seq
MIRT1163366	hsa-miR-4423-5p	CLIP-seq
MIRT1163367	hsa-miR-4433	CLIP-seq
MIRT1163368	hsa-miR-4435	CLIP-seq
MIRT1163369	hsa-miR-4443	CLIP-seq
MIRT1163370	hsa-miR-4446-3p	CLIP-seq
MIRT1163371	hsa-miR-4456	CLIP-seq
MIRT1163372	hsa-miR-4459	CLIP-seq
MIRT1163373	hsa-miR-4465	CLIP-seq
MIRT1163374	hsa-miR-4466	CLIP-seq
MIRT1163375	hsa-miR-4469	CLIP-seq
MIRT1163376	hsa-miR-4485	CLIP-seq
MIRT1163377	hsa-miR-4488	CLIP-seq
MIRT1163378	hsa-miR-4494	CLIP-seq
MIRT1163379	hsa-miR-4512	CLIP-seq
MIRT1163380	hsa-miR-4518	CLIP-seq
MIRT1163381	hsa-miR-4519	CLIP-seq
MIRT1163382	hsa-miR-4522	CLIP-seq
MIRT1163383	hsa-miR-4532	CLIP-seq
MIRT1163384	hsa-miR-4539	CLIP-seq
MIRT1163385	hsa-miR-4635	CLIP-seq
MIRT1163386	hsa-miR-4639-3p	CLIP-seq
MIRT1163387	hsa-miR-4640-3p	CLIP-seq
MIRT1163388	hsa-miR-4641	CLIP-seq
MIRT1163389	hsa-miR-4644	CLIP-seq
MIRT1163390	hsa-miR-4650-5p	CLIP-seq
MIRT1163391	hsa-miR-4651	CLIP-seq
MIRT1163392	hsa-miR-4652-5p	CLIP-seq
MIRT1163393	hsa-miR-4656	CLIP-seq
MIRT1163394	hsa-miR-4659a-5p	CLIP-seq
MIRT1163395	hsa-miR-4659b-5p	CLIP-seq
MIRT1163396	hsa-miR-4667-5p	CLIP-seq
MIRT1163397	hsa-miR-4680-5p	CLIP-seq
MIRT1163398	hsa-miR-4685-5p	CLIP-seq
MIRT1163399	hsa-miR-4687-5p	CLIP-seq
MIRT1163400	hsa-miR-4695-3p	CLIP-seq
MIRT1163401	hsa-miR-4697-5p	CLIP-seq
MIRT1163402	hsa-miR-4700-5p	CLIP-seq
MIRT1163403	hsa-miR-4704-5p	CLIP-seq
MIRT1163404	hsa-miR-4711-5p	CLIP-seq
MIRT1163405	hsa-miR-4714-3p	CLIP-seq
MIRT1163406	hsa-miR-4715-3p	CLIP-seq
MIRT1163407	hsa-miR-4715-5p	CLIP-seq
MIRT1163408	hsa-miR-4723-3p	CLIP-seq
MIRT1163409	hsa-miR-4727-5p	CLIP-seq
MIRT1163410	hsa-miR-4735-3p	CLIP-seq
MIRT1163411	hsa-miR-4755-3p	CLIP-seq
MIRT1163412	hsa-miR-4768-3p	CLIP-seq
MIRT1163413	hsa-miR-4769-3p	CLIP-seq
MIRT1163414	hsa-miR-4772-3p	CLIP-seq
MIRT1163415	hsa-miR-4776-3p	CLIP-seq
MIRT1163416	hsa-miR-4781-3p	CLIP-seq
MIRT1163417	hsa-miR-4786-3p	CLIP-seq
MIRT1163418	hsa-miR-4787-5p	CLIP-seq
MIRT1163419	hsa-miR-4802-5p	CLIP-seq
MIRT1163420	hsa-miR-486-3p	CLIP-seq
MIRT1163421	hsa-miR-499a-5p	CLIP-seq
MIRT1163422	hsa-miR-509-3-5p	CLIP-seq
MIRT1163423	hsa-miR-509-5p	CLIP-seq
MIRT1163424	hsa-miR-516b	CLIP-seq
MIRT1163425	hsa-miR-532-3p	CLIP-seq
MIRT1163426	hsa-miR-543	CLIP-seq
MIRT1163427	hsa-miR-544b	CLIP-seq
MIRT1163428	hsa-miR-548ah	CLIP-seq
MIRT1163429	hsa-miR-548q	CLIP-seq
MIRT1163430	hsa-miR-548t	CLIP-seq
MIRT1163431	hsa-miR-548v	CLIP-seq
MIRT1163432	hsa-miR-556-3p	CLIP-seq
MIRT1163433	hsa-miR-579	CLIP-seq
MIRT1163434	hsa-miR-608	CLIP-seq
MIRT1163435	hsa-miR-614	CLIP-seq
MIRT1163436	hsa-miR-622	CLIP-seq
MIRT1163437	hsa-miR-625	CLIP-seq
MIRT1163438	hsa-miR-637	CLIP-seq
MIRT1163439	hsa-miR-650	CLIP-seq
MIRT1163440	hsa-miR-661	CLIP-seq
MIRT1163441	hsa-miR-665	CLIP-seq
MIRT1163442	hsa-miR-671-5p	CLIP-seq
MIRT1163443	hsa-miR-675	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT1163445	hsa-miR-767-3p	CLIP-seq
MIRT1163446	hsa-miR-885-3p	CLIP-seq
MIRT1163293	hsa-miR-1184	CLIP-seq
MIRT1163297	hsa-miR-1207-3p	CLIP-seq
MIRT2046896	hsa-miR-1207-5p	CLIP-seq
MIRT1163302	hsa-miR-1252	CLIP-seq
MIRT2046897	hsa-miR-1254	CLIP-seq
MIRT1163305	hsa-miR-1266	CLIP-seq
MIRT1163307	hsa-miR-1279	CLIP-seq
MIRT2046898	hsa-miR-1287	CLIP-seq
MIRT2046899	hsa-miR-1291	CLIP-seq
MIRT2046900	hsa-miR-1293	CLIP-seq
MIRT1163312	hsa-miR-1297	CLIP-seq
MIRT2046901	hsa-miR-1343	CLIP-seq
MIRT2046902	hsa-miR-138	CLIP-seq
MIRT2046903	hsa-miR-148a	CLIP-seq
MIRT2046904	hsa-miR-148b	CLIP-seq
MIRT2046905	hsa-miR-149	CLIP-seq
MIRT2046906	hsa-miR-152	CLIP-seq
MIRT2046907	hsa-miR-15a	CLIP-seq
MIRT2046908	hsa-miR-15b	CLIP-seq
MIRT2046909	hsa-miR-16	CLIP-seq
MIRT2046910	hsa-miR-1825	CLIP-seq
MIRT2046911	hsa-miR-184	CLIP-seq
MIRT1163314	hsa-miR-185	CLIP-seq
MIRT2046912	hsa-miR-1910	CLIP-seq
MIRT2046913	hsa-miR-1913	CLIP-seq
MIRT2046914	hsa-miR-195	CLIP-seq
MIRT2046915	hsa-miR-197	CLIP-seq
MIRT2046916	hsa-miR-214	CLIP-seq
MIRT2046917	hsa-miR-22	CLIP-seq
MIRT2046918	hsa-miR-223	CLIP-seq
MIRT2046919	hsa-miR-2278	CLIP-seq
MIRT2046920	hsa-miR-24	CLIP-seq
MIRT1163320	hsa-miR-26a	CLIP-seq
MIRT1163321	hsa-miR-26b	CLIP-seq
MIRT1163322	hsa-miR-2861	CLIP-seq
MIRT2046921	hsa-miR-3064-3p	CLIP-seq
MIRT2046922	hsa-miR-3116	CLIP-seq
MIRT2046923	hsa-miR-3135b	CLIP-seq
MIRT1163325	hsa-miR-3144-5p	CLIP-seq
MIRT2046924	hsa-miR-3149	CLIP-seq
MIRT2046925	hsa-miR-3150a-5p	CLIP-seq
MIRT2046926	hsa-miR-3150b-5p	CLIP-seq
MIRT1163327	hsa-miR-3158-3p	CLIP-seq
MIRT2046927	hsa-miR-3189-5p	CLIP-seq
MIRT1163334	hsa-miR-3191	CLIP-seq
MIRT2046928	hsa-miR-3202	CLIP-seq
MIRT2046929	hsa-miR-324-3p	CLIP-seq
MIRT1163338	hsa-miR-326	CLIP-seq
MIRT1163339	hsa-miR-330-5p	CLIP-seq
MIRT2046930	hsa-miR-34a	CLIP-seq
MIRT2046931	hsa-miR-34c-5p	CLIP-seq
MIRT1163342	hsa-miR-3612	CLIP-seq
MIRT2046932	hsa-miR-3619-5p	CLIP-seq
MIRT2046933	hsa-miR-3622b-5p	CLIP-seq
MIRT2046934	hsa-miR-365	CLIP-seq
MIRT2046935	hsa-miR-3925-3p	CLIP-seq
MIRT1163348	hsa-miR-3934	CLIP-seq
MIRT1163349	hsa-miR-3944-5p	CLIP-seq
MIRT2046936	hsa-miR-411	CLIP-seq
MIRT2046937	hsa-miR-424	CLIP-seq
MIRT2046938	hsa-miR-4258	CLIP-seq
MIRT1163353	hsa-miR-4259	CLIP-seq
MIRT2046939	hsa-miR-4267	CLIP-seq
MIRT2046940	hsa-miR-4277	CLIP-seq
MIRT2046941	hsa-miR-4290	CLIP-seq
MIRT1163359	hsa-miR-4306	CLIP-seq
MIRT2046942	hsa-miR-4307	CLIP-seq
MIRT1163365	hsa-miR-4418	CLIP-seq
MIRT2046943	hsa-miR-4428	CLIP-seq
MIRT2046944	hsa-miR-4437	CLIP-seq
MIRT1163369	hsa-miR-4443	CLIP-seq
MIRT1163373	hsa-miR-4465	CLIP-seq
MIRT1163374	hsa-miR-4466	CLIP-seq
MIRT2046945	hsa-miR-4483	CLIP-seq
MIRT2046946	hsa-miR-4487	CLIP-seq
MIRT2046947	hsa-miR-449a	CLIP-seq
MIRT2046948	hsa-miR-449b	CLIP-seq
MIRT2046949	hsa-miR-4514	CLIP-seq
MIRT1163380	hsa-miR-4518	CLIP-seq
MIRT2046950	hsa-miR-4530	CLIP-seq
MIRT1163383	hsa-miR-4532	CLIP-seq
MIRT2046951	hsa-miR-4638-3p	CLIP-seq
MIRT1163388	hsa-miR-4641	CLIP-seq
MIRT1163389	hsa-miR-4644	CLIP-seq
MIRT1163391	hsa-miR-4651	CLIP-seq
MIRT1163392	hsa-miR-4652-5p	CLIP-seq
MIRT2046952	hsa-miR-4653-3p	CLIP-seq
MIRT1163396	hsa-miR-4667-5p	CLIP-seq
MIRT2046953	hsa-miR-4676-5p	CLIP-seq
MIRT1163398	hsa-miR-4685-5p	CLIP-seq
MIRT2046954	hsa-miR-4688	CLIP-seq
MIRT2046955	hsa-miR-4690-5p	CLIP-seq
MIRT2046956	hsa-miR-4692	CLIP-seq
MIRT2046957	hsa-miR-4693-3p	CLIP-seq
MIRT1163402	hsa-miR-4700-5p	CLIP-seq
MIRT2046958	hsa-miR-4713-5p	CLIP-seq
MIRT1163407	hsa-miR-4715-5p	CLIP-seq
MIRT2046959	hsa-miR-4717-5p	CLIP-seq
MIRT2046960	hsa-miR-4721	CLIP-seq
MIRT2046961	hsa-miR-4726-3p	CLIP-seq
MIRT2046962	hsa-miR-4728-5p	CLIP-seq
MIRT2046963	hsa-miR-4735-5p	CLIP-seq
MIRT2046964	hsa-miR-4747-5p	CLIP-seq
MIRT2046965	hsa-miR-4749-3p	CLIP-seq
MIRT1163411	hsa-miR-4755-3p	CLIP-seq
MIRT2046966	hsa-miR-4758-3p	CLIP-seq
MIRT2046967	hsa-miR-4763-3p	CLIP-seq
MIRT2046968	hsa-miR-4765	CLIP-seq
MIRT1163413	hsa-miR-4769-3p	CLIP-seq
MIRT2046969	hsa-miR-4775	CLIP-seq
MIRT2046970	hsa-miR-4794	CLIP-seq
MIRT2046971	hsa-miR-4804-5p	CLIP-seq
MIRT2046972	hsa-miR-483-3p	CLIP-seq
MIRT2046973	hsa-miR-483-5p	CLIP-seq
MIRT2046974	hsa-miR-485-5p	CLIP-seq
MIRT1163420	hsa-miR-486-3p	CLIP-seq
MIRT2046975	hsa-miR-497	CLIP-seq
MIRT2046976	hsa-miR-508-5p	CLIP-seq
MIRT1163422	hsa-miR-509-3-5p	CLIP-seq
MIRT1163423	hsa-miR-509-5p	CLIP-seq
MIRT2046977	hsa-miR-5096	CLIP-seq
MIRT2046978	hsa-miR-515-3p	CLIP-seq
MIRT2046979	hsa-miR-519a	CLIP-seq
MIRT2046980	hsa-miR-519b-3p	CLIP-seq
MIRT2046981	hsa-miR-519c-3p	CLIP-seq
MIRT2046982	hsa-miR-519e	CLIP-seq
MIRT1163429	hsa-miR-548q	CLIP-seq
MIRT2046983	hsa-miR-575	CLIP-seq
MIRT2046984	hsa-miR-590-3p	CLIP-seq
MIRT1163434	hsa-miR-608	CLIP-seq
MIRT2046985	hsa-miR-646	CLIP-seq
MIRT1163439	hsa-miR-650	CLIP-seq
MIRT1163440	hsa-miR-661	CLIP-seq
MIRT1163443	hsa-miR-675	CLIP-seq
MIRT2046986	hsa-miR-744	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT2046987	hsa-miR-760	CLIP-seq
MIRT2046988	hsa-miR-761	CLIP-seq
MIRT2046989	hsa-miR-766	CLIP-seq
MIRT2046990	hsa-miR-875-3p	CLIP-seq
MIRT1163446	hsa-miR-885-3p	CLIP-seq
MIRT1163293	hsa-miR-1184	CLIP-seq
MIRT1163295	hsa-miR-1200	CLIP-seq
MIRT1163299	hsa-miR-1227	CLIP-seq
MIRT2276002	hsa-miR-1236	CLIP-seq
MIRT1163302	hsa-miR-1252	CLIP-seq
MIRT2046897	hsa-miR-1254	CLIP-seq
MIRT1163305	hsa-miR-1266	CLIP-seq
MIRT1163306	hsa-miR-1275	CLIP-seq
MIRT1163307	hsa-miR-1279	CLIP-seq
MIRT1163309	hsa-miR-1289	CLIP-seq
MIRT2046900	hsa-miR-1293	CLIP-seq
MIRT1163312	hsa-miR-1297	CLIP-seq
MIRT2046905	hsa-miR-149	CLIP-seq
MIRT2046907	hsa-miR-15a	CLIP-seq
MIRT2046908	hsa-miR-15b	CLIP-seq
MIRT2046909	hsa-miR-16	CLIP-seq
MIRT2046912	hsa-miR-1910	CLIP-seq
MIRT2046913	hsa-miR-1913	CLIP-seq
MIRT2276003	hsa-miR-1915	CLIP-seq
MIRT2046914	hsa-miR-195	CLIP-seq
MIRT2046915	hsa-miR-197	CLIP-seq
MIRT1163318	hsa-miR-200b	CLIP-seq
MIRT1163319	hsa-miR-200c	CLIP-seq
MIRT2046916	hsa-miR-214	CLIP-seq
MIRT2046917	hsa-miR-22	CLIP-seq
MIRT2046920	hsa-miR-24	CLIP-seq
MIRT1163320	hsa-miR-26a	CLIP-seq
MIRT1163321	hsa-miR-26b	CLIP-seq
MIRT2276004	hsa-miR-28-5p	CLIP-seq
MIRT2046922	hsa-miR-3116	CLIP-seq
MIRT2276005	hsa-miR-3120-3p	CLIP-seq
MIRT2276006	hsa-miR-3139	CLIP-seq
MIRT1163326	hsa-miR-3148	CLIP-seq
MIRT2046924	hsa-miR-3149	CLIP-seq
MIRT1163327	hsa-miR-3158-3p	CLIP-seq
MIRT1163330	hsa-miR-3176	CLIP-seq
MIRT2046927	hsa-miR-3189-5p	CLIP-seq
MIRT2276007	hsa-miR-3199	CLIP-seq
MIRT2046929	hsa-miR-324-3p	CLIP-seq
MIRT1163342	hsa-miR-3612	CLIP-seq
MIRT2046932	hsa-miR-3619-5p	CLIP-seq
MIRT2276008	hsa-miR-3664-5p	CLIP-seq
MIRT2276009	hsa-miR-3667-3p	CLIP-seq
MIRT2276010	hsa-miR-3690	CLIP-seq
MIRT2276011	hsa-miR-374c	CLIP-seq
MIRT1163347	hsa-miR-3922-3p	CLIP-seq
MIRT2276012	hsa-miR-3942-3p	CLIP-seq
MIRT2046936	hsa-miR-411	CLIP-seq
MIRT2046937	hsa-miR-424	CLIP-seq
MIRT2276013	hsa-miR-4254	CLIP-seq
MIRT2046938	hsa-miR-4258	CLIP-seq
MIRT1163353	hsa-miR-4259	CLIP-seq
MIRT1163356	hsa-miR-429	CLIP-seq
MIRT2276014	hsa-miR-4297	CLIP-seq
MIRT2276015	hsa-miR-4312	CLIP-seq
MIRT1163362	hsa-miR-4323	CLIP-seq
MIRT1163363	hsa-miR-4324	CLIP-seq
MIRT1163365	hsa-miR-4418	CLIP-seq
MIRT2276016	hsa-miR-4426	CLIP-seq
MIRT2046943	hsa-miR-4428	CLIP-seq
MIRT1163369	hsa-miR-4443	CLIP-seq
MIRT2276017	hsa-miR-4457	CLIP-seq
MIRT1163373	hsa-miR-4465	CLIP-seq
MIRT1163374	hsa-miR-4466	CLIP-seq
MIRT2046945	hsa-miR-4483	CLIP-seq
MIRT1163380	hsa-miR-4518	CLIP-seq
MIRT1163383	hsa-miR-4532	CLIP-seq
MIRT1163385	hsa-miR-4635	CLIP-seq
MIRT1163386	hsa-miR-4639-3p	CLIP-seq
MIRT2276018	hsa-miR-4645-5p	CLIP-seq
MIRT2276019	hsa-miR-4647	CLIP-seq
MIRT2276020	hsa-miR-4662b	CLIP-seq
MIRT2276021	hsa-miR-4667-3p	CLIP-seq
MIRT2276022	hsa-miR-4673	CLIP-seq
MIRT2046953	hsa-miR-4676-5p	CLIP-seq
MIRT1163398	hsa-miR-4685-5p	CLIP-seq
MIRT2046958	hsa-miR-4713-5p	CLIP-seq
MIRT1163407	hsa-miR-4715-5p	CLIP-seq
MIRT2046960	hsa-miR-4721	CLIP-seq
MIRT2046961	hsa-miR-4726-3p	CLIP-seq
MIRT2046963	hsa-miR-4735-5p	CLIP-seq
MIRT2276023	hsa-miR-4742-5p	CLIP-seq
MIRT1163411	hsa-miR-4755-3p	CLIP-seq
MIRT2046966	hsa-miR-4758-3p	CLIP-seq
MIRT2046969	hsa-miR-4775	CLIP-seq
MIRT2046970	hsa-miR-4794	CLIP-seq
MIRT2046973	hsa-miR-483-5p	CLIP-seq
MIRT2046974	hsa-miR-485-5p	CLIP-seq
MIRT2046975	hsa-miR-497	CLIP-seq
MIRT1163422	hsa-miR-509-3-5p	CLIP-seq
MIRT1163423	hsa-miR-509-5p	CLIP-seq
MIRT2046977	hsa-miR-5096	CLIP-seq
MIRT2276024	hsa-miR-516a-3p	CLIP-seq
MIRT1163424	hsa-miR-516b	CLIP-seq
MIRT2046979	hsa-miR-519a	CLIP-seq
MIRT2046980	hsa-miR-519b-3p	CLIP-seq
MIRT2046981	hsa-miR-519c-3p	CLIP-seq
MIRT1163427	hsa-miR-544b	CLIP-seq
MIRT1163432	hsa-miR-556-3p	CLIP-seq
MIRT2276025	hsa-miR-558	CLIP-seq
MIRT2046983	hsa-miR-575	CLIP-seq
MIRT2046984	hsa-miR-590-3p	CLIP-seq
MIRT1163439	hsa-miR-650	CLIP-seq
MIRT2276026	hsa-miR-655	CLIP-seq
MIRT2276027	hsa-miR-659	CLIP-seq
MIRT1163441	hsa-miR-665	CLIP-seq
MIRT1163443	hsa-miR-675	CLIP-seq
MIRT2276028	hsa-miR-708	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT2046987	hsa-miR-760	CLIP-seq
MIRT2046988	hsa-miR-761	CLIP-seq
MIRT1163446	hsa-miR-885-3p	CLIP-seq
MIRT2276029	hsa-miR-935	CLIP-seq
MIRT1163295	hsa-miR-1200	CLIP-seq
MIRT1163299	hsa-miR-1227	CLIP-seq
MIRT2391153	hsa-miR-3156-5p	CLIP-seq
MIRT2391154	hsa-miR-3185	CLIP-seq
MIRT2276007	hsa-miR-3199	CLIP-seq
MIRT2391155	hsa-miR-3688-5p	CLIP-seq
MIRT2391156	hsa-miR-421	CLIP-seq
MIRT1163363	hsa-miR-4324	CLIP-seq
MIRT2391157	hsa-miR-4328	CLIP-seq
MIRT1163368	hsa-miR-4435	CLIP-seq
MIRT2391158	hsa-miR-450a	CLIP-seq
MIRT2391159	hsa-miR-4709-5p	CLIP-seq
MIRT2276024	hsa-miR-516a-3p	CLIP-seq
MIRT2046979	hsa-miR-519a	CLIP-seq
MIRT2046980	hsa-miR-519b-3p	CLIP-seq
MIRT2046981	hsa-miR-519c-3p	CLIP-seq
MIRT1163427	hsa-miR-544b	CLIP-seq
MIRT2391160	hsa-miR-644	CLIP-seq
MIRT1163440	hsa-miR-661	CLIP-seq
MIRT2046924	hsa-miR-3149	CLIP-seq
MIRT2046936	hsa-miR-411	CLIP-seq
MIRT1163374	hsa-miR-4466	CLIP-seq
MIRT2046963	hsa-miR-4735-5p	CLIP-seq
MIRT2046969	hsa-miR-4775	CLIP-seq
MIRT2046970	hsa-miR-4794	CLIP-seq
MIRT2046973	hsa-miR-483-5p	CLIP-seq
MIRT2046979	hsa-miR-519a	CLIP-seq
MIRT2046980	hsa-miR-519b-3p	CLIP-seq
MIRT2046981	hsa-miR-519c-3p	CLIP-seq
MIRT2046984	hsa-miR-590-3p	CLIP-seq
MIRT1163443	hsa-miR-675	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT2046924	hsa-miR-3149	CLIP-seq
MIRT2046936	hsa-miR-411	CLIP-seq
MIRT2046963	hsa-miR-4735-5p	CLIP-seq
MIRT2046969	hsa-miR-4775	CLIP-seq
MIRT2046970	hsa-miR-4794	CLIP-seq
MIRT2046973	hsa-miR-483-5p	CLIP-seq
MIRT2046984	hsa-miR-590-3p	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT2574865	hsa-let-7a	CLIP-seq
MIRT2574866	hsa-let-7b	CLIP-seq
MIRT2574867	hsa-let-7c	CLIP-seq
MIRT2574868	hsa-let-7d	CLIP-seq
MIRT2574869	hsa-let-7e	CLIP-seq
MIRT2574870	hsa-let-7f	CLIP-seq
MIRT2574871	hsa-let-7g	CLIP-seq
MIRT2574872	hsa-let-7i	CLIP-seq
MIRT1163290	hsa-miR-103a	CLIP-seq
MIRT1163291	hsa-miR-103b	CLIP-seq
MIRT1163292	hsa-miR-107	CLIP-seq
MIRT1163293	hsa-miR-1184	CLIP-seq
MIRT1163295	hsa-miR-1200	CLIP-seq
MIRT2046896	hsa-miR-1207-5p	CLIP-seq
MIRT2574873	hsa-miR-1225-3p	CLIP-seq
MIRT1163299	hsa-miR-1227	CLIP-seq
MIRT1163302	hsa-miR-1252	CLIP-seq
MIRT2574874	hsa-miR-1253	CLIP-seq
MIRT2574875	hsa-miR-1270	CLIP-seq
MIRT2574876	hsa-miR-1273f	CLIP-seq
MIRT2574877	hsa-miR-127-3p	CLIP-seq
MIRT1163307	hsa-miR-1279	CLIP-seq
MIRT1163309	hsa-miR-1289	CLIP-seq
MIRT1163311	hsa-miR-129-3p	CLIP-seq
MIRT2574878	hsa-miR-1294	CLIP-seq
MIRT2574879	hsa-miR-129-5p	CLIP-seq
MIRT2574880	hsa-miR-1303	CLIP-seq
MIRT2574881	hsa-miR-142-3p	CLIP-seq
MIRT2574882	hsa-miR-143	CLIP-seq
MIRT2574883	hsa-miR-1539	CLIP-seq
MIRT1163314	hsa-miR-185	CLIP-seq
MIRT2574884	hsa-miR-186	CLIP-seq
MIRT2574885	hsa-miR-1911	CLIP-seq
MIRT2276003	hsa-miR-1915	CLIP-seq
MIRT2574886	hsa-miR-193a-3p	CLIP-seq
MIRT2574887	hsa-miR-193b	CLIP-seq
MIRT2574888	hsa-miR-196a	CLIP-seq
MIRT2574889	hsa-miR-196b	CLIP-seq
MIRT2046915	hsa-miR-197	CLIP-seq
MIRT2574890	hsa-miR-202	CLIP-seq
MIRT2574891	hsa-miR-2052	CLIP-seq
MIRT2046916	hsa-miR-214	CLIP-seq
MIRT2574892	hsa-miR-217	CLIP-seq
MIRT2046920	hsa-miR-24	CLIP-seq
MIRT1163322	hsa-miR-2861	CLIP-seq
MIRT2046921	hsa-miR-3064-3p	CLIP-seq
MIRT2574893	hsa-miR-3117-5p	CLIP-seq
MIRT2276005	hsa-miR-3120-3p	CLIP-seq
MIRT2574894	hsa-miR-3123	CLIP-seq
MIRT1163325	hsa-miR-3144-5p	CLIP-seq
MIRT2046924	hsa-miR-3149	CLIP-seq
MIRT2574895	hsa-miR-3152-5p	CLIP-seq
MIRT2391153	hsa-miR-3156-5p	CLIP-seq
MIRT2574896	hsa-miR-3161	CLIP-seq
MIRT1163329	hsa-miR-3175	CLIP-seq
MIRT2574897	hsa-miR-3177-3p	CLIP-seq
MIRT1163332	hsa-miR-3183	CLIP-seq
MIRT2391154	hsa-miR-3185	CLIP-seq
MIRT2046927	hsa-miR-3189-5p	CLIP-seq
MIRT1163334	hsa-miR-3191	CLIP-seq
MIRT2574898	hsa-miR-3192	CLIP-seq
MIRT2574899	hsa-miR-3193	CLIP-seq
MIRT1163335	hsa-miR-3194-3p	CLIP-seq
MIRT1163340	hsa-miR-339-3p	CLIP-seq
MIRT2574900	hsa-miR-3613-3p	CLIP-seq
MIRT2046932	hsa-miR-3619-5p	CLIP-seq
MIRT2574901	hsa-miR-3622a-3p	CLIP-seq
MIRT2574902	hsa-miR-3622b-3p	CLIP-seq
MIRT1163343	hsa-miR-3651	CLIP-seq
MIRT2574903	hsa-miR-3657	CLIP-seq
MIRT2574904	hsa-miR-3662	CLIP-seq
MIRT2276008	hsa-miR-3664-5p	CLIP-seq
MIRT2574905	hsa-miR-3665	CLIP-seq
MIRT2574906	hsa-miR-3672	CLIP-seq
MIRT2574907	hsa-miR-3676	CLIP-seq
MIRT2574908	hsa-miR-3691-3p	CLIP-seq
MIRT2574909	hsa-miR-3921	CLIP-seq
MIRT2574910	hsa-miR-3925-5p	CLIP-seq
MIRT2276012	hsa-miR-3942-3p	CLIP-seq
MIRT2574911	hsa-miR-3943	CLIP-seq
MIRT1163349	hsa-miR-3944-5p	CLIP-seq
MIRT2046936	hsa-miR-411	CLIP-seq
MIRT2391156	hsa-miR-421	CLIP-seq
MIRT1163352	hsa-miR-425	CLIP-seq
MIRT2574912	hsa-miR-4263	CLIP-seq
MIRT2046939	hsa-miR-4267	CLIP-seq
MIRT2574913	hsa-miR-4269	CLIP-seq
MIRT2574914	hsa-miR-4271	CLIP-seq
MIRT1163354	hsa-miR-4274	CLIP-seq
MIRT2574915	hsa-miR-4283	CLIP-seq
MIRT2574916	hsa-miR-4284	CLIP-seq
MIRT2574917	hsa-miR-4291	CLIP-seq
MIRT1163358	hsa-miR-4299	CLIP-seq
MIRT1163359	hsa-miR-4306	CLIP-seq
MIRT1163361	hsa-miR-4313	CLIP-seq
MIRT1163362	hsa-miR-4323	CLIP-seq
MIRT1163363	hsa-miR-4324	CLIP-seq
MIRT1163365	hsa-miR-4418	CLIP-seq
MIRT2574918	hsa-miR-4420	CLIP-seq
MIRT2046944	hsa-miR-4437	CLIP-seq
MIRT2574919	hsa-miR-4438	CLIP-seq
MIRT1163371	hsa-miR-4456	CLIP-seq
MIRT2574920	hsa-miR-4458	CLIP-seq
MIRT1163374	hsa-miR-4466	CLIP-seq
MIRT1163375	hsa-miR-4469	CLIP-seq
MIRT1163378	hsa-miR-4494	CLIP-seq
MIRT2574921	hsa-miR-4500	CLIP-seq
MIRT1163379	hsa-miR-4512	CLIP-seq
MIRT1163381	hsa-miR-4519	CLIP-seq
MIRT2574922	hsa-miR-451b	CLIP-seq
MIRT1163382	hsa-miR-4522	CLIP-seq
MIRT2046950	hsa-miR-4530	CLIP-seq
MIRT2574923	hsa-miR-4531	CLIP-seq
MIRT1163385	hsa-miR-4635	CLIP-seq
MIRT1163386	hsa-miR-4639-3p	CLIP-seq
MIRT1163387	hsa-miR-4640-3p	CLIP-seq
MIRT1163388	hsa-miR-4641	CLIP-seq
MIRT2574924	hsa-miR-4643	CLIP-seq
MIRT1163389	hsa-miR-4644	CLIP-seq
MIRT1163392	hsa-miR-4652-5p	CLIP-seq
MIRT2574925	hsa-miR-4653-5p	CLIP-seq
MIRT1163394	hsa-miR-4659a-5p	CLIP-seq
MIRT1163395	hsa-miR-4659b-5p	CLIP-seq
MIRT2574926	hsa-miR-4661-5p	CLIP-seq
MIRT1163396	hsa-miR-4667-5p	CLIP-seq
MIRT2574927	hsa-miR-4682	CLIP-seq
MIRT1163399	hsa-miR-4687-5p	CLIP-seq
MIRT2574928	hsa-miR-4699-5p	CLIP-seq
MIRT1163402	hsa-miR-4700-5p	CLIP-seq
MIRT1163403	hsa-miR-4704-5p	CLIP-seq
MIRT2574929	hsa-miR-4708-5p	CLIP-seq
MIRT2574930	hsa-miR-4709-3p	CLIP-seq
MIRT2391159	hsa-miR-4709-5p	CLIP-seq
MIRT2574931	hsa-miR-4710	CLIP-seq
MIRT1163405	hsa-miR-4714-3p	CLIP-seq
MIRT1163406	hsa-miR-4715-3p	CLIP-seq
MIRT2574932	hsa-miR-4716-3p	CLIP-seq
MIRT1163408	hsa-miR-4723-3p	CLIP-seq
MIRT2574933	hsa-miR-4725-3p	CLIP-seq
MIRT2046961	hsa-miR-4726-3p	CLIP-seq
MIRT2046963	hsa-miR-4735-5p	CLIP-seq
MIRT2574934	hsa-miR-4736	CLIP-seq
MIRT2046966	hsa-miR-4758-3p	CLIP-seq
MIRT2046967	hsa-miR-4763-3p	CLIP-seq
MIRT2574935	hsa-miR-4770	CLIP-seq
MIRT2574936	hsa-miR-4774-3p	CLIP-seq
MIRT2046969	hsa-miR-4775	CLIP-seq
MIRT1163415	hsa-miR-4776-3p	CLIP-seq
MIRT1163417	hsa-miR-4786-3p	CLIP-seq
MIRT1163418	hsa-miR-4787-5p	CLIP-seq
MIRT2046970	hsa-miR-4794	CLIP-seq
MIRT1163419	hsa-miR-4802-5p	CLIP-seq
MIRT2046973	hsa-miR-483-5p	CLIP-seq
MIRT2574937	hsa-miR-486-5p	CLIP-seq
MIRT1163421	hsa-miR-499a-5p	CLIP-seq
MIRT1163422	hsa-miR-509-3-5p	CLIP-seq
MIRT2574938	hsa-miR-5095	CLIP-seq
MIRT1163423	hsa-miR-509-5p	CLIP-seq
MIRT2046977	hsa-miR-5096	CLIP-seq
MIRT1163424	hsa-miR-516b	CLIP-seq
MIRT1163427	hsa-miR-544b	CLIP-seq
MIRT1163429	hsa-miR-548q	CLIP-seq
MIRT1163433	hsa-miR-579	CLIP-seq
MIRT2046984	hsa-miR-590-3p	CLIP-seq
MIRT2574939	hsa-miR-620	CLIP-seq
MIRT1163436	hsa-miR-622	CLIP-seq
MIRT1163437	hsa-miR-625	CLIP-seq
MIRT1163438	hsa-miR-637	CLIP-seq
MIRT1163440	hsa-miR-661	CLIP-seq
MIRT1163443	hsa-miR-675	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT2046988	hsa-miR-761	CLIP-seq
MIRT1163445	hsa-miR-767-3p	CLIP-seq
MIRT1163446	hsa-miR-885-3p	CLIP-seq
MIRT2574940	hsa-miR-892b	CLIP-seq
MIRT2574941	hsa-miR-922	CLIP-seq
MIRT2276029	hsa-miR-935	CLIP-seq
MIRT2574942	hsa-miR-938	CLIP-seq
MIRT2574943	hsa-miR-941	CLIP-seq
MIRT2574944	hsa-miR-98	CLIP-seq
MIRT2574865	hsa-let-7a	CLIP-seq
MIRT2574866	hsa-let-7b	CLIP-seq
MIRT2574867	hsa-let-7c	CLIP-seq
MIRT2574868	hsa-let-7d	CLIP-seq
MIRT2574869	hsa-let-7e	CLIP-seq
MIRT2574870	hsa-let-7f	CLIP-seq
MIRT2574871	hsa-let-7g	CLIP-seq
MIRT2574872	hsa-let-7i	CLIP-seq
MIRT1163293	hsa-miR-1184	CLIP-seq
MIRT1163294	hsa-miR-1197	CLIP-seq
MIRT2046896	hsa-miR-1207-5p	CLIP-seq
MIRT1163299	hsa-miR-1227	CLIP-seq
MIRT1163302	hsa-miR-1252	CLIP-seq
MIRT1163309	hsa-miR-1289	CLIP-seq
MIRT2574878	hsa-miR-1294	CLIP-seq
MIRT2685481	hsa-miR-1301	CLIP-seq
MIRT2685482	hsa-miR-134	CLIP-seq
MIRT2574881	hsa-miR-142-3p	CLIP-seq
MIRT2046905	hsa-miR-149	CLIP-seq
MIRT2276003	hsa-miR-1915	CLIP-seq
MIRT2574886	hsa-miR-193a-3p	CLIP-seq
MIRT2574887	hsa-miR-193b	CLIP-seq
MIRT2574888	hsa-miR-196a	CLIP-seq
MIRT2574889	hsa-miR-196b	CLIP-seq
MIRT2046915	hsa-miR-197	CLIP-seq
MIRT2574890	hsa-miR-202	CLIP-seq
MIRT2574891	hsa-miR-2052	CLIP-seq
MIRT2574892	hsa-miR-217	CLIP-seq
MIRT2046921	hsa-miR-3064-3p	CLIP-seq
MIRT2574893	hsa-miR-3117-5p	CLIP-seq
MIRT2685483	hsa-miR-3118	CLIP-seq
MIRT1163325	hsa-miR-3144-5p	CLIP-seq
MIRT2046924	hsa-miR-3149	CLIP-seq
MIRT2574895	hsa-miR-3152-5p	CLIP-seq
MIRT2391153	hsa-miR-3156-5p	CLIP-seq
MIRT2574896	hsa-miR-3161	CLIP-seq
MIRT2685484	hsa-miR-3164	CLIP-seq
MIRT2574897	hsa-miR-3177-3p	CLIP-seq
MIRT2391154	hsa-miR-3185	CLIP-seq
MIRT1163334	hsa-miR-3191	CLIP-seq
MIRT2574898	hsa-miR-3192	CLIP-seq
MIRT1163342	hsa-miR-3612	CLIP-seq
MIRT2574900	hsa-miR-3613-3p	CLIP-seq
MIRT2574901	hsa-miR-3622a-3p	CLIP-seq
MIRT2574902	hsa-miR-3622b-3p	CLIP-seq
MIRT2574903	hsa-miR-3657	CLIP-seq
MIRT2574904	hsa-miR-3662	CLIP-seq
MIRT2276008	hsa-miR-3664-5p	CLIP-seq
MIRT2574905	hsa-miR-3665	CLIP-seq
MIRT2574906	hsa-miR-3672	CLIP-seq
MIRT2574907	hsa-miR-3676	CLIP-seq
MIRT2574908	hsa-miR-3691-3p	CLIP-seq
MIRT2685485	hsa-miR-371-5p	CLIP-seq
MIRT2276012	hsa-miR-3942-3p	CLIP-seq
MIRT2046936	hsa-miR-411	CLIP-seq
MIRT2391156	hsa-miR-421	CLIP-seq
MIRT1163352	hsa-miR-425	CLIP-seq
MIRT2574914	hsa-miR-4271	CLIP-seq
MIRT1163354	hsa-miR-4274	CLIP-seq
MIRT1163362	hsa-miR-4323	CLIP-seq
MIRT1163365	hsa-miR-4418	CLIP-seq
MIRT2574918	hsa-miR-4420	CLIP-seq
MIRT2046944	hsa-miR-4437	CLIP-seq
MIRT2574919	hsa-miR-4438	CLIP-seq
MIRT1163369	hsa-miR-4443	CLIP-seq
MIRT2574920	hsa-miR-4458	CLIP-seq
MIRT1163374	hsa-miR-4466	CLIP-seq
MIRT2574921	hsa-miR-4500	CLIP-seq
MIRT2574922	hsa-miR-451b	CLIP-seq
MIRT1163385	hsa-miR-4635	CLIP-seq
MIRT1163386	hsa-miR-4639-3p	CLIP-seq
MIRT1163392	hsa-miR-4652-5p	CLIP-seq
MIRT2685486	hsa-miR-4660	CLIP-seq
MIRT1163396	hsa-miR-4667-5p	CLIP-seq
MIRT1163398	hsa-miR-4685-5p	CLIP-seq
MIRT1163402	hsa-miR-4700-5p	CLIP-seq
MIRT2391159	hsa-miR-4709-5p	CLIP-seq
MIRT2574931	hsa-miR-4710	CLIP-seq
MIRT1163405	hsa-miR-4714-3p	CLIP-seq
MIRT1163406	hsa-miR-4715-3p	CLIP-seq
MIRT2574932	hsa-miR-4716-3p	CLIP-seq
MIRT2574933	hsa-miR-4725-3p	CLIP-seq
MIRT2046961	hsa-miR-4726-3p	CLIP-seq
MIRT2046963	hsa-miR-4735-5p	CLIP-seq
MIRT2574934	hsa-miR-4736	CLIP-seq
MIRT2046967	hsa-miR-4763-3p	CLIP-seq
MIRT2574936	hsa-miR-4774-3p	CLIP-seq
MIRT2046969	hsa-miR-4775	CLIP-seq
MIRT1163417	hsa-miR-4786-3p	CLIP-seq
MIRT2046970	hsa-miR-4794	CLIP-seq
MIRT2046973	hsa-miR-483-5p	CLIP-seq
MIRT2046974	hsa-miR-485-5p	CLIP-seq
MIRT2574937	hsa-miR-486-5p	CLIP-seq
MIRT2685487	hsa-miR-5047	CLIP-seq
MIRT1163422	hsa-miR-509-3-5p	CLIP-seq
MIRT2574938	hsa-miR-5095	CLIP-seq
MIRT1163423	hsa-miR-509-5p	CLIP-seq
MIRT2046977	hsa-miR-5096	CLIP-seq
MIRT1163424	hsa-miR-516b	CLIP-seq
MIRT2046984	hsa-miR-590-3p	CLIP-seq
MIRT1163436	hsa-miR-622	CLIP-seq
MIRT1163437	hsa-miR-625	CLIP-seq
MIRT1163438	hsa-miR-637	CLIP-seq
MIRT1163439	hsa-miR-650	CLIP-seq
MIRT1163443	hsa-miR-675	CLIP-seq
MIRT1163444	hsa-miR-759	CLIP-seq
MIRT2046987	hsa-miR-760	CLIP-seq
MIRT2574940	hsa-miR-892b	CLIP-seq
MIRT2574942	hsa-miR-938	CLIP-seq
MIRT2574943	hsa-miR-941	CLIP-seq
MIRT2574944	hsa-miR-98	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFE2L2	Activation	16551619

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001843	Process	Neural tube closure	IMP	25855017, 29222906
GO:0001843	Process	Neural tube closure	NAS	9349452
GO:0003824	Function	Catalytic activity	IEA
GO:0004489	Function	Methylenetetrahydrofolate reductase [NAD(P)H] activity	IBA
GO:0004489	Function	Methylenetetrahydrofolate reductase [NAD(P)H] activity	IDA	12673793, 24769206, 29891918
GO:0004489	Function	Methylenetetrahydrofolate reductase [NAD(P)H] activity	IEA
GO:0004489	Function	Methylenetetrahydrofolate reductase [NAD(P)H] activity	IGI	10551815
GO:0004489	Function	Methylenetetrahydrofolate reductase [NAD(P)H] activity	IMP	12673793, 25736335
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006555	Process	Methionine metabolic process	IEA
GO:0006555	Process	Methionine metabolic process	IGI	10551815
GO:0009086	Process	Methionine biosynthetic process	IBA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0033274	Process	Response to vitamin B2	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IBA
GO:0035999	Process	Tetrahydrofolate interconversion	IDA	12673793, 29891918
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IGI	10551815
GO:0035999	Process	Tetrahydrofolate interconversion	IMP	12673793, 25736335
GO:0043200	Process	Response to amino acid	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	24769206
GO:0046500	Process	S-adenosylmethionine metabolic process	IEA
GO:0046653	Process	Tetrahydrofolate metabolic process	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	12673793
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050661	Function	NADP binding	IEA
GO:0050667	Process	Homocysteine metabolic process	IDA	20031578
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0070555	Process	Response to interleukin-1	IEA
GO:0070828	Process	Heterochromatin organization	IDA	24769206
GO:0071949	Function	FAD binding	IBA
GO:0072341	Function	Modified amino acid binding	IDA	20031578
GO:0106313	Function	Methylenetetrahydrofolate reductase (NADPH) activity	IEA

Other IDs

• MIM: 607093
• HGNC: 7436
• e!Ensembl: ENSG00000177000

Protein

• UniProt ID: P42898
• Protein name: Methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.53)
• Protein function: Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918). Represents a key regulatory connection between the folate and methionine cycles
• PDB: 6FCX, 8QA4, 8QA5, 8QA6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02219	MTHFR	48 → 337	Methylenetetrahydrofolate reductase	Domain

• Sequence:

  MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWF
  SLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC
  GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVK
  HIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
  KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIE
  LAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREE
  DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKM
  WGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
  TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHL
  VNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
  EESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP

• Sequence length: 656

Pathways

KEGG:

One carbon pool by folate
Metabolic pathways
Antifolate resistance
Folate transport and metabolism

Reactome:

Metabolism of folate and pterines

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Pathogenic	rs121434294	RCV001813944	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral tonic-clonic seizure	Pathogenic	rs763186690	RCV001261544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs1057519359	RCV005893802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs748397580	RCV005909223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized cerebral atrophy/hypoplasia	Likely pathogenic	rs1644256586	RCV001281375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs986604359	RCV005900094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs763186690	RCV001261544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Likely pathogenic; Pathogenic	rs1297161027, rs1644354028, rs760161369, rs1644092513, rs199476142, rs756018487, rs747668376, rs1263501260, rs2100527918, rs763539350, rs2100577466, rs545086633, rs786204034, rs147257424, rs2100507511, rs2100568604, rs779993607, rs2100494177, rs200137991, rs748397580, rs2100499107, rs767789270, rs2100527601, rs2100528352, rs774118546, rs2100566841, rs2100562061, rs2100495241, rs1182635980, rs1644227167, rs2100499494, rs121434294, rs121434295, rs267606887, rs267606886, rs121434297, rs768434408, rs786204037, rs758206023, rs786204035, rs777661576, rs747846362, rs786204031, rs786204030, rs749765738, rs786204027, rs786204026, rs367585605, rs780014899, rs786204024, rs786204021, rs786204020, rs786204018, rs786204016, rs200100285, rs786204014, rs574132670, rs786204013, rs786204012, rs786204010, rs786204007, rs776483190, rs1644429362, rs1644230120, rs144508139, rs2522857846, rs375254845, rs2522816970, rs1557759023, rs2522854600, rs928393582, rs2522818191, rs770238976, rs1057519363, rs759031330, rs1057519362, rs1057519361, rs1057519359, rs2522943706, rs750752838, rs2522885017, rs760886915, rs911127028, rs1644381879, rs755483936, rs2522881802, rs2522961067, rs2522876133, rs2522882449, rs2522835468, rs2522979795, rs147750177, rs1644212098, rs2522884710, rs2100523280, rs769244826, rs2522875756, rs2522982515, rs2522883183, rs2522857207, rs2522894898, rs1570473609, rs1334349459, rs776430173, rs1644186925, rs765586205, rs377443637, rs776734688, rs1553187509, rs986604359, rs1553185069, rs754980119, rs200688214, rs1557761665, rs140277700, rs139645527, rs750323424, rs368321176, rs748571395, rs776969786, rs764338697, rs1380686004, rs1644227125, rs1644375837, rs1644227005, rs1434449406, rs1644355976, rs977038830, rs1644256586, rs767890671, rs1314085200, rs1483632178	RCV001324137 RCV001336892 RCV001353257 RCV001377363 RCV001377365 RCV001385434 RCV001386742 RCV001380179 RCV001385897 RCV001380126 RCV001382595 RCV001420163 RCV001808247 RCV001838859 RCV001994550 RCV001999849 RCV001999864 RCV001946672 RCV001953816 RCV001995318 RCV001864382 RCV001939988 RCV001993395 RCV002042950 RCV001941557 RCV001963017 RCV002035641 RCV001934845 RCV001985134 RCV001985163 RCV002247150 RCV001209716 RCV001382824 RCV002225067 RCV001851626 RCV002512718 RCV000167626 RCV000167625 RCV000167624 RCV000167623 RCV000167621 RCV000167620 RCV000167619 RCV000167618 RCV000167617 RCV000167615 RCV000167614 RCV000167613 RCV000167612 RCV000167611 RCV000167610 RCV000167607 RCV000167605 RCV000167602 RCV000167600 RCV000167599 RCV000167597 RCV000167596 RCV000167595 RCV000167594 RCV000167592 RCV000167591 RCV000167589 RCV000167588 RCV000167587 RCV003093571 RCV002588344 RCV002630048 RCV002510619 RCV002627735 RCV002720888 RCV002851368 RCV002908322 RCV003017557 RCV003026952 RCV003048912 RCV003045095 RCV000416933 RCV000416797 RCV000416691 RCV000416935 RCV000416674 RCV005608927 RCV003153089 RCV003389932 RCV003523191 RCV003523192 RCV003523193 RCV004577963 RCV003523265 RCV003525253 RCV003525254 RCV003523641 RCV003523459 RCV003523665 RCV003524450 RCV003524706 RCV003636097 RCV003637720 RCV003637937 RCV003638062 RCV003635465 RCV003635548 RCV003635507 RCV003635493 RCV003635426 RCV003636670 RCV003636755 RCV003865098 RCV004515786 RCV005100913 RCV000546103 RCV000538018 RCV002532693 RCV000625779 RCV000625848 RCV003387441 RCV000690846 RCV000702419 RCV000721980 RCV000817838 RCV000791536 RCV000810485 RCV000813708 RCV000985005 RCV001236475 RCV001052871 RCV001055526 RCV001055646 RCV001052251 RCV001065420 RCV001244294 RCV001253140 RCV003770337 RCV001260224 RCV001377364 RCV005606799 RCV001290317 RCV001386292 RCV001300805	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile spasms	Pathogenic	rs763186690	RCV001261544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MTHFR-related disorder	Likely pathogenic	rs754015864	RCV004731535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural tube defect	Pathogenic	rs786204030	RCV000709684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural tube defects, folate-sensitive	Likely pathogenic; Pathogenic	rs1297161027, rs760161369, rs1644092513, rs199476142, rs763539350, rs545086633, rs2100568604, rs779993607, rs2100495241, rs1182635980, rs116620395, rs121434295, rs121434297, rs768434408, rs777661576, rs747846362, rs786204030, rs749765738, rs367585605, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs776483190, rs1644230120, rs2522857846, rs928393582, rs1057519359, rs2522899174, rs2522980498, rs2522854675, rs760886915, rs2522808827, rs1380686004, rs2522873347, rs2522835100, rs2522818414, rs786204007, rs2522866049, rs2100524602, rs911127028, rs2522817085, rs2522854199, rs2522942894, rs2100522053, rs1262817124, rs754015864, rs2522943706, rs1644381879, rs2522818894, rs2522854585, rs2522807898, rs2522941954, rs868113829, rs1644212098, rs1234860680, rs750339037, rs1570475998, rs2522880559, rs761870682, rs2522808874, rs1644186925, rs2522978414, rs765586205, rs377443637, rs986604359, rs754980119, rs140277700, rs139645527, rs750323424, rs368321176, rs748571395, rs776969786, rs764338697, rs1644227005, rs748397580, rs1434449406, rs977038830, rs767890671, rs1483632178	RCV005012774 RCV004570861 RCV003462949 RCV003462950 RCV003462963 RCV003463041 RCV003471132 RCV004571709 RCV003464183 RCV003471099 RCV004572080 RCV002476918 RCV003466798 RCV004567355 RCV003462251 RCV003468817 RCV003468816 RCV002492678 RCV003462250 RCV003462249 RCV003462248 RCV003468813 RCV004567354 RCV003462247 RCV003462246 RCV003468812 RCV003459753 RCV003465778 RCV003465902 RCV005008150 RCV003470259 RCV003470260 RCV003470261 RCV003461960 RCV003461961 RCV003461962 RCV003461963 RCV003470262 RCV003461964 RCV003461965 RCV003461966 RCV003470263 RCV003461967 RCV003461968 RCV003461969 RCV003470264 RCV003461970 RCV003470265 RCV003461971 RCV003461972 RCV003470266 RCV003461973 RCV003461974 RCV003461975 RCV003461976 RCV003461977 RCV004574156 RCV004573161 RCV004576268 RCV004576269 RCV004576270 RCV004576271 RCV004576272 RCV004576273 RCV004576275 RCV004576276 RCV003470753 RCV004568822 RCV003465361 RCV002477553 RCV003461249 RCV003461066 RCV003461196 RCV003461217 RCV003461295 RCV000986238 RCV002505603 RCV003469468 RCV003462834 RCV003462838 RCV003469502 RCV003462851 RCV003462865	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Likely pathogenic; Pathogenic	rs1434449406	RCV001257010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Likely pathogenic; Pathogenic	rs1297161027, rs545086633, rs121434295, rs121434297, rs749765738, rs367585605, rs763539350, rs1057519359, rs754980119, rs140277700, rs750323424, rs748571395, rs764338697, rs767890671	RCV005012774 RCV004796633 RCV002476918 RCV005007812 RCV002492678 RCV002498831 RCV005008085 RCV005008150 RCV002477553 RCV005012368 RCV005012348 RCV005012406 RCV002505603 RCV002499515	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Secondary microcephaly	Pathogenic	rs763186690	RCV001261544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spasticity	Pathogenic	rs763186690	RCV001261544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia due to thrombin defect	Likely pathogenic; Pathogenic	rs1297161027, rs545086633, rs121434295, rs121434297, rs749765738, rs367585605, rs574132670, rs763539350, rs1057519359, rs754980119, rs140277700, rs750323424, rs748571395, rs764338697, rs767890671	RCV005012774 RCV004796633 RCV002476918 RCV005007812 RCV002492678 RCV002498831 RCV005419880 RCV005008085 RCV005008150 RCV002477553 RCV005012368 RCV005012348 RCV005012406 RCV002505603 RCV002499515	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APHTHOUS STOMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS, INHERITED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID STENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLUBFOOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY RESTENOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, POSTPARTUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISCORDANT VENTRICULOARTERIAL CONNECTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISEASES OF MITRAL VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF EYE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	drug response; Benign; Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAFT VS HOST DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAFT-VS-HOST DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGICAL DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VENO-OCCLUSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PREGNANCY-INDUCED	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lower limb spasticity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALNUTRITION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mendelian syndromes with cleft lip/palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deterioration	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methotrexate response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROVASCULAR ANGINA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MTHFR THERMOLABILE POLYMORPHISM	drug response; Benign; Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOSITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	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	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFTING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC DISEASE OF MITRAL VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC MITRAL REGURGITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, susceptibility to	Benign; Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF GREAT VESSELS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL DYSPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	23807201, 26154858		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	10505325, 10593555, 10847236, 15781933, 16109904, 19940469, 20868443, 25264994		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	15534175, 16681562, 19646848		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	16629766		★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23314883, 29245302, 31602349		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	17387702		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10536004, 11274424, 12453860, 12672676, 17071478, 17891601, 17970089, 20367562, 21951971, 22706675, 23336575, 28374953		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10029588, 11408344, 11736945, 12827651, 12958073, 15003888, 15068389, 15921520, 16019535, 16182363, 16450391, 16462575, 16897583, 16923565, 16944145, 17023046, 17035405, 17156840, 17512587, 17970089, 18385010, 18804702, 18989887, 19020309, 19178944, 19391036, 19775302, 20121554, 20367562, 20374270, 20445408, 20870238, 21117954, 21495160, 21509569, 21590445, 21657963, 21702646, 21747412, 22017305, 22094326, 22441130, 22528943, 22943282, 23061880, 23183238, 23652803, 23986219, 24237708, 24276031, 24377532, 24476575, 24637499, 24908438, 24919644, 25065700, 25099492, 25110820, 25115513, 25342508, 25629981, 25793509, 26528799, 27966457, 27996344, 28062297, 28646637, 28990296, 29390492, 29911750, 30545275, 31002356, 31188929, 31499477		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15068389		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15643524, 17206530, 18636416		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24490800, 29340069		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21347786, 21951971, 25232254		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	17111187		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23709418, 25536611		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10064332, 11424140, 16108833, 16128738, 16783607, 17087956, 17301267, 18322814, 18708408, 18768511, 23401104		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16108833, 17087956, 17089070, 18322814, 18703816, 18708408		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10064332, 10738112, 10919734, 12690011, 14578131, 15286469, 15941973, 16108833, 16783607, 17087956, 17089070, 17709451, 18322814, 18768511, 21517275, 26485042, 27062459, 31740010, 9886567		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	14724163, 23504555		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	11122847, 14977639, 16783607		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	19353223	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10029588, 11986237, 12827651, 12958073, 15003888, 15159311, 15921520, 16019535, 16096524, 16182363, 16897583, 17023046, 17035405, 17156840, 17512587, 17970089, 18385010, 19020309, 19178944, 20367562, 20374270, 20870238, 21117954, 21657963, 21702646, 22017305, 22094326, 22528943, 23061880, 23652803, 24237708, 24377532, 24637499, 24908438, 25065700, 25099492, 25110820, 25342508, 25629981, 25793509, 26081619, 26528799, 27996344, 28990296, 29390492, 30545275, 31002356, 31188929		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	25887077		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	17712558, 23812728		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15289015		★☆☆☆☆ Found in Text Mining only
Affective Disorders, Psychotic	Affective Psychosis	BEFREE	16055253		★☆☆☆☆ Found in Text Mining only
Affective Disorders, Psychotic	Affective Psychosis	PSYGENET_DG	16055253		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	25796308		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	18070159		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	18381794, 23954881		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	23954881		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	16906320		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	16906320		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	BEFREE	12196500		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10860300, 15201366, 17691219, 18628954, 24223459, 24679048, 28342207, 32804129, 33833133	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	19650814		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	11328206, 15123333, 16055944, 18628954, 22034983, 26401555, 28211809, 30288696, 30631824, 31102717		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	26774227, 30646578		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21128869, 28187987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	22385294		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	12196500		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	16567932, 18958479, 23866722, 28301901		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19391036, 19648163, 29398535, 9453374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	CTD_human_DG	19391036, 25007187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Hemolytic anemia	Pubtator	19094231	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	17908667	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	10583261, 11279637, 15224376, 16906320, 22084413, 23869056, 32201547, 37260067, 37895268, 9723576, 9840906	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	14633777, 21480888, 9453374		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	10505325, 10524453, 10583261, 11146461, 12142786, 15224376, 16103709, 16906320, 22924497, 23869056, 23992124, 28188925, 30686687, 9723576		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	BEFREE	17439956, 22230335, 24990354, 8826441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	LHGDN	17439956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	ORPHANET_DG	22754237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aneuploidy	Aneuploidy	Pubtator	22377705, 26217949, 27068821	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	10957660, 15996600	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	17962595, 20446941, 27017342		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	16596119		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	18385801, 19936026, 25054348, 27585654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angle Closure Glaucoma	Angle Closure Glaucoma	LHGDN	18385801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23247802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	34348647, 38238653	Associate	★☆☆☆☆ Found in Text Mining only
Anterior encephalocele	Encephalocele	BEFREE	28398708		★☆☆☆☆ Found in Text Mining only
Anterior Ischemic Optic Neuropathy	Anterior Ischemic Optic Neuropathy	BEFREE	21122545		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	12891167, 15284001		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	LHGDN	16133896		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	17895510, 23162020, 31173496	Associate	★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	25326427, 27459142		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	12796225		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	12796225		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	10957660, 15996600, 26017485	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	12590185, 15996600, 16614466, 23643559, 24613192, 26017485, 26865327, 27603386, 28288890, 28709390		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	LHGDN	12590185		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	10512925		★☆☆☆☆ Found in Text Mining only
Arakawa syndrome 2	Arakawa Syndrome	BEFREE	8979304, 9453374		★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	24384392		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	10360908, 10477457, 11057853		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	10360908, 18293456, 32201547	Associate	★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	12196500		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10229729, 11094304, 11865092, 12833177, 12927690, 15494775, 15561486, 15764293, 15777550, 15895286, 15931619, 16760910, 17396161, 17785925, 17934972, 19403988, 20423475, 20825473, 21296594, 23247802, 26828698, 29444504, 29501539, 31444033, 9615905, 9737770, 9863549		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	27234992, 37355582	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	11927833		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30544400		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11710708, 15361376, 16272757, 16439441, 16572443, 17213520, 17965559, 18195462, 19571519, 19578646, 19625220, 20423475, 22377704, 23547211, 24447348, 24967362, 26147289, 27692391, 27770044, 31617429, 35680906, 36835522	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27692391	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	20472929		★☆☆☆☆ Found in Text Mining only
Asperger Syndrome	Asperger Syndrome	BEFREE	19267885		★☆☆☆☆ Found in Text Mining only
Asthenia	Asthenia	Pubtator	33035787	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	28440964		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18070159, 23692062, 25591454, 29117460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	18070159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	25591454, 34511169, 36592167	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19232336		★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	BEFREE	21044744		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10229729, 10512925, 11094304, 11865092, 12833177, 12927690, 15494775, 15561486, 15764293, 15777550, 15895286, 17384833, 17396161, 17785925, 17934972, 19403988, 1998339, 20423475, 20825473, 21296594, 23247802, 26828698, 29444504, 29501539, 31444033, 9615905, 9863549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	12784186, 12927690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	19148342, 19403988, 19934557, 20423475, 20433440, 21394321, 26828698, 26915609, 28086795, 29444504, 35680906, 36806868, 36876682	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	17290027, 17551576, 29685716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	17551576, 28390428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	19597492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASDB_DG	19597492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	28984369		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	16373366, 28984369		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	20718043	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31929371, 32758174	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	21618410, 21897766, 23227261, 34573389, 36655641, 37285328	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20870238, 21819229, 21897766, 23227261, 25079255, 28250422, 29407547		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19267885, 22648721, 36655641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19267885, 20440228, 21069446, 22648721, 23653228, 27755291, 28984369, 30552741, 31033224, 31133774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	19267885, 19440165, 19455642, 21069446, 22775456, 26956130, 27755291, 30552741, 31033224, 31614268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	19267885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19267885, 33411826	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17304657, 20941748, 23954881, 25203152		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34752683	Associate	★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	BEFREE	23983171		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16861746, 16888682, 21535009, 22175540, 22928696, 24268703, 26380869, 26505368, 26549413, 26584688		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	28440964	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	21138341		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	16944145, 17712558		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	21951971		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	30165906		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	11128675, 14504916, 16299146, 18076365, 22773907, 23207285, 23665953, 23827456, 31602349		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	14521457, 16299146, 22180713, 22773907, 24136464, 31173496	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	19814618		★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	31173496	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	27187171	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16545905, 17188847, 18165967, 18513846, 18983889, 20552676, 21955385, 23969624, 24577139, 24938371, 25101272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	17074966, 18513846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	17074966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	22176285, 22370993, 25101272, 25744938	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23969624, 24577139, 24938371, 25101272, 25744938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	27447284		★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	25744938		★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	35631247	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15117811, 17574963		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16217917, 17311259, 17574963, 18505952, 18815869, 19588544, 19837268, 20146887, 21046286, 22126575, 22296361, 22747749, 23578207, 23649653, 23773402		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	22747749		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	17442092	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29891045, 9409277		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders, Inherited	Blood Coagulation Disorders	CTD_human_DG	17493413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet disorder	Pubtator	12361206, 15678268, 29115087	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	31015243	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	12674333, 22377704, 32549258, 37816983	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	16361298		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	24938371, 25744938		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25264227	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic Inborn	Brain disease	Pubtator	17976958	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	20191019		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	20191019	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	15534175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Cerebral Ischemia	LHGDN	15829163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Brain ischemia	Pubtator	29264982	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	LHGDN	18483342		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21848426, 23846816		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32264844	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	16821630, 23846816		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	29544444		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12430180, 12602921, 14572159, 14734703, 14973091, 15004488, 15110890, 15150439, 15510613, 15598763, 15735051, 15736423, 15784178, 15837541, 15868433, 16097444, 16134079, 16630166, 16777985, 17063264, 17069650, 17105984, 17180579, 17260091, 17311260, 17372271, 17453338, 17476281, 17581305, 17584018, 17896178, 18095031, 18174236, 18669903, 18708404, 18798070, 18842997, 19123462, 19240236, 19336565, 19557016, 19706843, 19707223, 19759169, 20030812, 20135343, 20143151, 20417243, 20670164, 21052845, 21105050, 21161404, 21461582, 21822552, 21875371, 22134752, 22373582, 22799374, 22901194, 23155246, 23217001, 23393023, 23631762, 24023349, 24078451, 24130171, 24175799, 24945727, 24973876, 25075036, 25078601, 25081713, 25217320, 25270516, 25318348, 25566964, 25801246, 25803740, 25966173, 26014925, 26081619, 26163632, 26323926, 26537580, 26662439, 27173331, 27237471, 27404801, 27568010, 27614738, 27706773, 27824246, 28114181, 28123304, 28747156, 29544444, 30877449, 31523170, 31549463		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16777985, 17595805		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12473175, 12602921, 15004488, 15736423, 16097444, 17069650, 17595805, 18669903, 18708404, 18842997, 19123462, 19389261, 19706843, 19707223, 19759169, 19846961, 20003265, 20030812, 22371529, 22373582, 22799374, 22901194, 23056029, 23631762, 23803051, 24130171, 24175799, 25217320, 25366783, 25566964, 25801246, 25966173, 26163632, 26662439, 27237471, 27404801, 27706773, 28114181, 29544444, 31523170, 31601265, 32192442, 32986372, 33639682, 34242313, 39837367	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22373582, 34242313	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	29544444	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24938371, 25744938		★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	12221667		★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	LHGDN	12221667		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12060127, 16108833, 20130515, 21180947, 22218157, 23275280, 24966971, 26745044, 27976555, 34242313, 34502300	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10203598, 16512993, 24175756		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	21672255	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17503006, 17659576, 19035314, 25318605, 25337902, 31694048, 34502300, 34644732	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	CTD_human_DG	17303386		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16217917, 17311259, 17574963, 18505952, 18815869, 19588544, 19837268, 20146887, 21046286, 22126575, 22296361, 22747749, 23578207, 23649653, 23773402		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14981981, 15922487, 15941959, 16334126, 17259654, 17389614, 17468511, 18221821, 18340404, 18789576, 19118009, 20065319, 20532637, 21342495, 21605004, 22024018, 22144047, 22215214, 22901166, 22938410, 23237779, 23372658, 24142642, 25124620, 25536611, 25544260, 25921104, 26323926, 27173216, 28236470, 30323671, 31192962		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26191297	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21342495	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	23244112	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15026274, 15914210, 21732987, 25306137		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17063264, 20817226, 22524826, 22605962, 22810649, 22901131, 23098496, 23329275, 24129496, 24720627, 26345746, 28123304		★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	26839351		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	10027946, 11532106, 15073633, 15735067, 15750260, 15996600, 17622358, 17976958, 18672474, 18840629, 19267198, 21270364, 21613384, 22237773, 22277556, 22594584, 22832733, 23285280, 24679048, 25537992, 25728832, 26654251, 27316508, 27649570, 27976555, 28481466, 29042595, 30320542, 31029863, 32432712, 35821207, 36655641, 40158176, 8554066, 9607212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10329022, 10399090, 10408794, 10428303, 10720211, 10919921, 11058711, 11282795, 11287760, 11306861, 11351038, 11532106, 11683544, 11692165, 11744804, 11916749, 12187094, 12196500, 12242465, 12356947, 12499324, 12713146, 12927690, 14728017, 15073633, 15494775, 15561486, 15618240, 15777550, 15837084, 16046727, 16340945, 16380767, 16958597, 17065574, 17332146, 17899317, 17917766, 17976958, 18622257, 18672474, 18840629, 19376104, 19466593, 19609317, 19937354, 20146869, 20939734, 21178087, 21270364, 21613384, 22103680, 22277556, 22370993, 22492374, 22649255, 22782530, 22832733, 23116396, 23247802, 23285280, 23608654, 24264431, 24314549, 24458267, 24532105, 25050994, 25537992, 26022245, 26559681, 27629735, 27720779, 28215593, 28463405, 29042595, 29974397, 31029863, 31300468, 8554066, 8782850, 8873653, 9051203, 9323065, 9327760, 9510851, 9681281, 9715796, 9774778, 9868588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	12187094, 15750260, 16046727, 16380767, 17332146, 17454207, 17899317, 18672474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	16958597, 25050994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	LHGDN	17228344, 17899317		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	20134102, 32404177, 32675800	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	11781870, 18160591, 19353312, 29439641	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	10229729, 10512925, 11287760, 11558898, 12775885, 15748240, 17899317, 20134102		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	11388660, 9615905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Stenosis	Carotid artery stenosis	LHGDN	12775885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	16310481		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37121723	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	16917400, 25149392		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	19248194, 21688148	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	18406541		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	25144711, 37898918	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	10572079, 10929044, 11870335, 15946211, 16624841, 16679643, 16936384, 17461517, 18560453, 18672474, 18796459, 19934557, 19934565, 21678004, 22203923, 24132798, 24189452, 24846872, 24853127, 25705649, 25855559, 25966188, 26109141, 26710338, 26839351, 28171870, 28409162, 28963520, 29042595, 29235504, 29390494, 29669328, 30572478, 30781868, 31725629, 31932513, 32358951, 34241942, 34357004, 35225709, 36193932, 36197177, 37101129, 37898918, 38167461, 39796592	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	10593555, 19068258, 19263510, 25098357, 29264982, 9715796, 9743236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	30781868	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	36193932	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy	Cerebral palsy	BEFREE	16202738, 20962791, 26646537		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	22098125	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	26839351		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	26839351, 35307828	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Thrombosis	Cerebral Thrombosis	BEFREE	17456624		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10365738, 10408794, 10456616, 10524453, 10572079, 10583261, 10695265, 10830195, 10835445, 10949530, 11307798, 11388660, 11397354, 11872884, 12364720, 12382154, 12690212, 12907815, 14693836, 15114595, 15613145, 15652605, 15947278, 16053469, 16209893, 16282888, 16365871, 16397167, 16624841, 16629766, 16679643, 16814086, 16936384, 17098841, 17113927, 17171228, 17521309, 17904970, 18958479, 19193985, 19251185, 19263510, 19330466, 19515015, 19617462, 19717029, 19748043, 19763346, 19805823, 20335551, 20446941, 21113717, 21270470, 21803414, 21824561, 22275392, 22759687, 23184002, 23285280, 23428159, 23505425, 24090469, 24132798, 24391036, 24458267, 24846872, 25031284, 25107455, 25238925, 25472665, 25700330, 26522268, 26839351, 27126505, 28360116, 28396257, 28963520, 29330520, 29398535, 29555401, 30898617, 31155015, 9303018, 9562260, 9840906, 9863710, 9950259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	LHGDN	11870335, 12907815, 15613145, 16282888, 16624841, 16936384, 17300365, 17461517, 17621484, 17641264, 17726226, 18602910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	15534175, 16681562, 19646848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	10695265, 10765003, 10938012, 11306861, 11307798, 11388660, 14644077, 16894458, 17589670, 21270470, 21755116, 24603976, 28481466, 9715796		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	11307798, 3177384	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10928104, 15581963, 15635481, 15703836, 18351371, 19760026, 21052817, 21731042, 22711309, 22901193, 23029458, 23057736, 23070908, 23285018, 23431363, 23490201, 23864153, 24474455, 26156333, 26879954, 27771518, 29740106, 31170928, 31554347, 31750632		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	17303386		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	10928104, 11751445, 12618332, 15514969, 15581963, 15635481, 15703836, 16297972, 17303386, 19760026, 20130515, 21052817, 23029458, 23864153, 24474455, 25302494, 31170928		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	LHGDN	17303386		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	CTD_human_DG	17303386		★☆☆☆☆ Found in Text Mining only
Cervical spina bifida aperta	Cervical spina bifida aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervical spina bifida cystica	Cervical spina bifida cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida aperta	Cervicothoracic Spina Bifida	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida cystica	Cervicothoracic Spina Bifida	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10928104, 15581963, 15635481, 15703836, 18351371, 19760026, 21052817, 21731042, 22711309, 22901193, 23029458, 23057736, 23070908, 23285018, 23431363, 23490201, 23864153, 24474455, 26156333, 26879954, 27771518, 29740106, 31170928, 31750632		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10029588, 12827651, 12958073, 15781665, 15921520, 15967214, 16019535, 16096524, 16123993, 16182363, 16886608, 16897583, 16923565, 17023046, 17035405, 17156840, 17203359, 17970089, 18385010, 18458567, 19020309, 19178944, 20002681, 20101025, 20367562, 20374270, 20409583, 20870238, 20955826, 21117954, 21495160, 21534867, 21657963, 21702646, 22017305, 22094326, 22528943, 23061880, 23089671, 23550988, 23652803, 23865834, 24237708, 24377532, 24476575, 24637499, 24737678, 24908438, 24919644, 25065700, 25099492, 25110820, 25342508, 25450284, 25520092, 25629981, 25746326, 25793509, 26081619, 26528799, 27533339, 27996344, 28392709, 28990296, 29390492, 30545275, 31002356, 31188929, 31499477, 31737664, 31786878		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	16706930		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	23692062		★☆☆☆☆ 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
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	15354395, 17201138, 21875294, 22189445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17201138	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	32228104	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	18498722		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	18498722		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	30796269	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10430972, 11287760, 11532106, 11592445, 12187113, 16158041, 17005529, 17899317, 24363223, 25050994, 9264011		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16158041, 19272686, 19376104, 22897803, 23595572, 24711158		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15385937, 22441130, 31020666		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	15385937		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	16706930		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15033905		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	18661527, 18797703, 21781437, 28230599, 31663447, 36655641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	12672677, 15054400, 15221800, 19419265, 20572854, 21612398, 21781437, 24254627, 25808365, 27167580, 31303355, 9843036		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	18661527, 21781437, 27167580, 30578914, 31122291, 31663447, 36901988	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	10486408, 19013496, 21358708, 25625218, 25882604, 32325916, 32497019, 34045473, 35307828, 37462970	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25625218, 37462970	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18700049		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	18700049	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10446107, 31173496, 37816983	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10385141, 12107847, 12163703, 12496052, 12576444, 14633777, 14973104, 15161007, 15829374, 16103455, 16152599, 16886608, 18712959, 19123462, 19256756, 19326430, 20551579, 20920350, 23314736, 24533714, 25339013, 26081619		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11889073, 16177213, 21603981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	11889073, 12107847, 16177213, 21603981	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12496052, 12540022, 15894672, 17704422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	16284371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10064332, 10464674, 10738112, 11059519, 11122847, 11408344, 11889073, 12020105, 12042673, 12427779, 12618331, 14608111, 14676107, 14977639, 15161007, 15342443, 15546509, 15598777, 15608557, 15637738, 15894672, 16051637, 16128738, 16152599, 16187112, 16217917, 16512993, 16638790, 16819711, 16866026, 16927418, 16941173, 17000706, 17036383, 17089070, 17131337, 17350979, 17602711, 17855693, 17925917, 18034621, 18053312, 18245544, 18595133, 18712959, 18768511, 18804702, 18992148, 19156174, 19172696, 19203896, 19256756, 19326430, 19465420, 19487547, 19663673, 19669769, 19936946, 20012180, 20037199, 20056627, 20076818, 20078613, 20193847, 20409583, 20447924, 20473868, 20504332, 20516537, 20920350, 21109973, 21128871, 21211571, 21422408, 21732284, 22194208, 22218157, 22367721, 22719222, 22729883, 22799306, 22890827, 23392576, 23401104, 23422951, 23437053, 23893618, 24083702, 24100087, 24193867, 24611457, 25292054, 25823789, 26046315, 26081619, 26111049, 26156333, 26564107, 26745044, 26858257, 27823653, 27827401, 27837635, 28044213, 28691890, 29089462, 29134491, 29599316, 30131855, 31216671, 31330573, 31740010, 8895734		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	15608557, 16512993, 16985020, 17047490, 17087956, 17245555, 17350979, 18676755		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11781870, 11889073, 12427779, 15161007, 15447919, 15546509, 16103455, 16177213, 16638790, 16819711, 16866026, 16886608, 17036383, 17449906, 17465256, 17925917, 18053312, 18267032, 18595133, 18712959, 18992148, 18996879, 19123462, 19156174, 19256756, 19384296, 19487547, 19661077, 19672255, 19776626, 19936946, 20037199, 20056627, 20076818, 20078613, 20193847, 20504332, 20516537, 20551579, 20819423, 20920350, 20960050, 21603981, 21732284, 22218157, 22367721, 22390411, 22486600, 22719222, 23626689, 24083702, 24338217, 25292054, 26046315, 26108676, 26745044, 27827401, 29373881, 29799355, 29925788, 31395900, 31740010, 33035787, 34645434, 34956401, 36364857, 37754498, 37914736, 38248103	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12042673, 12738713, 15546509, 15608557, 15894672, 16927418, 17602711, 17855693, 18053312, 18245544, 18595133, 18712959, 18996879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	14676107, 24916333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	15608557, 16512993, 16985020, 17047490, 17087956, 17245555, 17350979, 18676755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18992148, 18996879, 20447924	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	19156174, 37914736	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	17962595, 23811028, 23915182		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19376104		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26990189, 28580572, 37933013	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16247718, 16997330, 21097530, 22377705, 27068821		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	16936070, 27475959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	CTD_human_DG	16936070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	21875294, 22189445		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	11303187, 11470464, 16373366, 16389035, 16524890, 17965089, 19725133, 22175539, 22660520, 23536781, 24338416, 24566197, 29202788, 30334422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	16524890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	LHGDN	18452180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	11470464, 16207540, 16305696, 17510921, 19894660, 21793799, 22197386, 23876493, 23933414, 24387084, 24720776, 25472587, 25494855, 26035828, 26990189, 28591039, 29554656, 29600076, 30333252		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	15937947, 22116453		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17182005		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	19493349, 20031554, 20111745, 22495907, 30165839	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	12705333, 16100725, 16524890, 22495907, 22868813, 25981563, 30165839		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	20551579, 23098510	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18098291, 20039875, 21489764, 26191297, 31242814		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10337543, 10559524, 10595952, 10765003, 11073851, 11096270, 11168435, 11257266, 11259808, 11292330, 11319193, 11947914, 11950428, 12049191, 12220440, 12387655, 12417280, 12522558, 12801615, 12833177, 14521457, 14560345, 14604831, 15135689, 15321841, 15353918, 15648053, 15950563, 16216822, 16268464, 16274479, 16487909, 16489563, 16845248, 16928730, 17264399, 17354258, 17505678, 17604826, 18068006, 18075008, 18204887, 18384842, 18403793, 18586656, 18751630, 19169973, 19219535, 19565133, 1998339, 20637366, 21311765, 21802936, 22146089, 22440940, 22664498, 23288205, 23391848, 24218123, 24310797, 25124382, 26095803, 31163415, 8403293, 8758047, 8994411, 9051203, 9350916, 9355896, 9502183, 9568733, 9622772, 9708460, 9715796, 9806473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	10212171, 10929044, 14521457, 15447919, 16612468, 16802358, 17264399, 17622358, 18403793, 18586656, 18751630, 1998339, 20530057, 20962453, 21769819, 22664498, 22780915, 23391848, 23631288, 25124382, 27805237, 28086795, 31571711, 32525847, 32572074, 32682401, 34975123, 35721657, 9247365, 9350916	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	10337543, 10559524, 10595952, 10765003, 10982535, 11058711, 11073851, 11096270, 11168435, 11257266, 11259808, 11292330, 11319193, 11343335, 11386855, 11397354, 11507973, 11940092, 11947914, 11950428, 12049191, 12387655, 12522558, 12801615, 12833177, 14521457, 14560345, 14604831, 14728017, 15135689, 15321841, 15353918, 15648053, 15777550, 15950563, 16077191, 16216822, 16268464, 16274479, 16472842, 16487909, 16489563, 16704755, 16845248, 16928730, 16953277, 17027242, 17264399, 17354258, 17384833, 17505678, 17604826, 18068006, 18074111, 18075008, 18176672, 18204887, 18384842, 18403793, 18586656, 18751630, 19043368, 19169973, 19219535, 19280995, 19565133, 19634497, 19733705, 1998339, 20530057, 20637366, 21769819, 21802936, 22146089, 22440940, 22653243, 22664498, 23288205, 24218123, 24310797, 24315498, 24903192, 25124382, 25648260, 26095803, 27773468, 27805237, 28086795, 28689750, 31163415, 31497444, 31571711, 8403293, 8673563, 8758047, 8994411, 9051203, 9102178, 9350916, 9355896, 9502183, 9568733, 9569181, 9622772, 9708460, 9715796, 9806473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	12522558, 12730410, 15935452, 16077191, 16704755, 16845248, 18074111, 18075008, 18384842, 18751630, 19169973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	11872884	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	15121769, 16274479, 17591934, 18622257, 23288205, 24218123, 27051002, 29245302, 32675800, 9708460	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	10337543, 10428303, 10595952, 10765003, 11073851, 11096270, 11168435, 11257266, 11259808, 11292330, 11319193, 11343335, 11470464, 11947914, 12049191, 12387655, 12522558, 12801615, 12833177, 14521457, 14560345, 14604831, 15135689, 15321841, 15353918, 15458711, 15607533, 15648053, 15951337, 16207540, 16216822, 16268464, 16274479, 16305696, 16373366, 16389035, 16487909, 16489563, 16524890, 16845248, 16928730, 17264399, 17354258, 17505678, 17510921, 17604826, 17965089, 18068006, 18075008, 18204887, 18384842, 18403793, 18586656, 18622257, 18751630, 19169973, 19219535, 19565133, 19725133, 1998339, 20637366, 20868449, 21254360, 21780915, 21793799, 21802936, 22146089, 22175539, 22440940, 22660520, 22664498, 23288205, 23536781, 23701284, 23876493, 23933414, 24218123, 24310797, 24338416, 24387084, 24720776, 25124382, 25472587, 25494855, 26035828, 26095803, 26990189, 27051002, 28591039, 28758112, 28876333, 29202788, 29554656, 29600076, 30333252, 30334422, 31163415, 8403293, 8758047, 8994411, 9051203, 9350916, 9355896, 9502183, 9568733, 9622772, 9697819, 9708460, 9715796, 9806473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	LHGDN	11947914, 12594357, 12666851, 15607533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	16792904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Restenosis	Coronary Restenosis	CTD_human_DG	16489563		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary stenosis	Pubtator	10929044	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	8403293		★☆☆☆☆ Found in Text Mining only
Coronary Vasospasm	Coronary vasospasm	Pubtator	17000887	Associate	★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	18387654, 39769114	Associate	★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10446107, 28002332	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	17156138, 21122545, 23542077, 28002332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	28002332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	28002332		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	28002332		★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	23274712, 24846872	Associate	★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	11916316, 19261978, 9490685		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	10065893, 10233437, 10505325, 10706928, 11014892, 11128675, 12413583, 16061406, 16082606, 16158041, 16432849, 18030499, 18293456, 18800176, 18800213, 20479641, 20707729, 20881312, 21080081, 23377169, 24715181, 26261166, 29855758, 30303041, 30466296, 31571711, 9327760, 9493571		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	19123085		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	19219640		★☆☆☆☆ Found in Text Mining only
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	BEFREE	17621533		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23089924		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10486408, 11328206, 11589919, 12364720, 22668858, 26926955, 9129727		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	10860300, 11781870	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	10855603, 10860300, 10938012, 11328206, 11711225, 12364720, 20441995, 22015309, 23858518, 25024308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression in children	Mental Depression	BEFREE	31621343		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	17074966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Neurotic	Mental Depression	CTD_human_DG	17074966		★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	PSYGENET_DG	21772318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	11722155, 12450963, 12796225, 18165972, 18801628, 18981340, 19235787, 19251870, 19650814, 20163778, 21125200, 21635773, 21772318, 22668858, 22739363, 23116396, 23285094, 23900311, 24373005, 24532086, 26177556, 26620113, 26681493, 26926881, 27035272, 27626182, 28427558, 28968218, 30898617, 9342205, 9774778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	CTD_human_DG	17074966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	20096138, 21125200, 21635773, 22739363, 26926881, 27626182, 31185929, 33263678, 33315905, 35904038, 37628752, 39769114	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	23116396, 23586533, 24373005, 24532086, 26177556		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	17074966		★☆☆☆☆ Found in Text Mining only
Depressive Syndrome	Mental Depression	BEFREE	19251870		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22399526		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	17548696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	29364434		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	19746410		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20504979, 39769114	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15836661, 16274479, 19330466, 19437140, 19484352, 19857476, 21613384, 24828322, 25115547, 25449138, 25700330, 27990443, 29222982, 30675189, 31663297, 9806473		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	16274479	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35334827, 35631247, 37106323, 37818092	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35334827	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10090925, 11531629, 15836661, 20134102, 22880024, 23391848, 24218123, 27976555, 29534533	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11287760, 11531629, 15836661, 15931619, 16274479, 16862278, 19330466, 19437140, 19484352, 19857476, 21613384, 22209973, 23822721, 24828322, 25115547, 25449138, 25700330, 26072975, 26315791, 27990443, 28341195, 29222982, 29534533, 30675189, 31663297, 9806473		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	15469701, 18220649		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	11531629	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15836661, 16274479, 19934557, 20134102, 22554825, 24452036, 25165408, 25537992, 27983710, 28231061, 28409162, 29694640, 33455465, 34289004, 35057543	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35057543	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10562465, 12776270, 16401615, 18774994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10500310, 10877195, 11015479, 11386855, 11851723, 12667409, 12784186, 12897091, 14737040, 15871860, 15902512, 16274479, 16828193, 17005529, 17114913, 17618615, 19857476, 19934557, 19937354, 20524928, 20800057, 21186995, 21380725, 21942443, 22103601, 22554825, 23036708, 23249316, 23458876, 23846111, 24023947, 24320691, 24452036, 24838050, 25047451, 25074646, 25165408, 25537992, 26161693, 27983710, 28331553, 28341195, 29075332, 30397262, 31663297, 9806473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12673582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	12242465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic cardiomyopathy	CTD_human_DG	16681562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	16906320, 27990443	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Foot	Diabetic foot	Pubtator	26579581	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22554825, 30729677	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10562465, 10765003, 11015479, 12776270, 12784186, 12897091, 14737040, 15126006, 16828193, 17005529, 17354258, 17805475, 18280442, 20524928, 20800057, 21186995, 21380725, 21942443, 22056717, 22209973, 22554825, 23822721, 23846111, 24678913, 26072975, 26161693, 29227003, 30397262, 30675189, 30729677		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12784186, 12897091, 15126006, 17005529, 17805475		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	23901246, 24452036	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	26233336, 29222982		★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	BEFREE	31143237		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	12667409, 12951282, 15902512, 16862278, 18280442, 22056717, 23901246, 25324196, 27517946, 29075332, 29182429, 30628508, 30675189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	12673582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23901246, 24452036, 32860770	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	19672255, 22045187, 26970343	Associate	★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	21050834, 22536880		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	14535593, 17712558, 18042267, 23174714, 23812728, 23829278		★☆☆☆☆ Found in Text Mining only
Diffuse Mixed-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	34204335	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10500018, 10930360, 11443546, 11568918, 11807890, 12080391, 12400059, 12626825, 12923861, 14656028, 15103709, 15834031, 15889417, 16353284, 16575899, 16596679, 16602006, 16845273, 17702010, 17934692, 18057532, 18257130, 18273817, 18446861, 18983896, 19065440, 19096127, 19725133, 20075510, 20592453, 20868477, 21045269, 21198396, 22377700, 23184006, 24068460, 24668664, 24913031, 25265565, 25671679, 26040482, 26926955, 30474229, 31176774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	10930360, 11443546, 15585767, 15834031, 16845273, 18057532, 18257130, 18273817, 19096127, 20592453, 20868477, 21045269, 22377700, 24668664, 26017139, 33440639, 33608632, 35060496	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	LHGDN	12032275, 12400059, 12529699, 12923861, 15103709, 16489479, 17922421, 18057532, 18257130, 18273817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	CTD_human_DG	16353284, 16489479, 16845273, 17431899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	16845273	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome, Partial Trisomy 21	Down Syndrome	CTD_human_DG	16353284, 16489479, 16845273, 17431899		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	25824380		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	34521653	Associate	★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	34126931	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	23807201, 24458267, 25115547, 26233336, 26442927, 26934084, 30786773		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	26337056, 26442927, 30786773, 34289004, 34498771, 38287840	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	14633777, 18435414		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	21067440		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	10655155, 15387863, 15905108, 24898880, 25879409, 26214484, 31452430		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22399526, 23692062		★☆☆☆☆ Found in Text Mining only
Encephalomalacia	Encephalomalacia	LHGDN	18539994		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	18945219		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	17074966		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17301261, 26522108, 9450474		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	17301261		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	17301261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23299529	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	35788150, 37895084	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	15564733, 26564107		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10459572, 15970629, 17951123, 19646848, 21787169, 24183735, 24556013, 25915064, 28161091, 30267335, 31354331		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12027572, 17561949, 17904392, 21543238, 22425007, 25915064, 26142939, 27976555, 30442198, 35904038	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	15970629, 17904392		★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	17904392	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	15648556, 19694922		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12433726, 15790587, 16399440, 18840514, 19058336, 21347786, 21517266, 21672255, 21951971, 22292644, 22524840, 23534726, 23679298, 23803097, 24606463		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12433726, 15790587, 16399440, 18840514, 19058336, 21347786, 21517266, 21672255, 22292644, 22524840, 23534726, 23679298, 23803097, 24606463		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15231206, 18840514		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19058336, 21672255, 22292644, 22430803, 22524840, 23803097, 33322951, 36102491	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16333305, 21375764, 21672255, 22524840, 22853296, 23244153, 24393513, 27323028, 28046029, 33819921	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	25041994, 25337902	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	15750260, 16081343, 26442927, 29436860, 32555714, 35284002, 36845669	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	16280279, 18068006, 18200034, 20669348, 21699409, 25458833, 25550183, 26022245, 26442927, 27051013, 29436860		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	15390052		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	LHGDN	16636653		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	19142139, 22134713, 23687437, 28299500		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	19102718, 30796269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	21951971, 23679298		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30131855		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30131855		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	21854603, 23547829, 24488901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	23547829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	17356914, 17563923		★☆☆☆☆ Found in Text Mining only
Favism	Favism	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15834927, 17900242		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	12218328		★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	10583261, 12623486, 12958073, 15051606, 18612269, 22277790, 22424391, 22515117, 23936521, 26266420, 26561410, 27187171, 27725412, 28094233, 28963520, 29222906, 29564022, 35631247, 35691911, 37101129, 37201763, 9457954	Associate	★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	34502300	Inhibit	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	10583261, 11216876, 11408344, 11569694, 11588136, 12551843, 12644913, 12958073, 14603192, 14734201, 15002923, 15051606, 15688408, 16185908, 16941173, 17438654, 17951123, 18815869, 19121630, 21334854, 21951971, 22424391, 22901194, 23936521, 24970119, 25065700, 26154858, 26266420, 26745044, 27187171, 28045918, 28094233, 28400561, 30053573, 30240347, 30255822, 30867454		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic acid deficiency	Pubtator	11781870, 14704292, 22901194, 37933013	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic acid deficiency	Pubtator	28045918	Inhibit	★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	20696177, 23161188		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30131855		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	CTD_human_DG	19648163		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	17979520		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	17972183		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	19267198, 32758174, 37327296	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	CTD_human_DG	19648163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	19648163, 25104092	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	33322951	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	26375922		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	26375922	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	21823541		★☆☆☆☆ Found in Text Mining only
GAUCHER DISEASE, PERINATAL LETHAL	Gaucher Disease	BEFREE	21823541		★☆☆☆☆ Found in Text Mining only
Genital ulcers	Genital ulcers	BEFREE	16299146		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	27840191		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	12433726, 14652285, 17206530		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	23687437, 25054348, 27585654	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	25054348, 27585654, 29845210, 30851082		★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	27585654	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	18385801, 19936026, 27824919	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	16636653, 18385801, 19936026, 25054348, 27585654	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	12486490, 16862068, 20068371, 25317717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	LHGDN	16636653, 16862068, 18385801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	15808177, 16862068, 17558844, 18385801, 19936026, 22902176, 23123730, 25054348, 25317717, 27585654		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16951158, 17119065, 18497326		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16951158, 18497326		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18497326, 24301776, 32264844	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16951158, 17119065, 18497326		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16821630, 18483342, 24301776, 28820331	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23765760, 23846816, 28820331, 28915669, 29017962		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	15896655		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31929371	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	21500982	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	11279637	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	21613384	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	16920564, 21920473	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	16518429, 16920564, 18365141, 19005482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	CTD_human_DG	16518429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	LHGDN	18365141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	20941748, 27430300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17573062, 18789576, 21556759, 23098497, 25802478, 26035704		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22430803, 23276522	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	30170616	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	21385350, 22424391	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	22424391	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	15951337, 16305696, 20031554, 21254360, 22197386, 25494855, 25846410, 26035828, 26990189, 28230599, 28758112, 29793361, 33219830, 33440639, 34126931, 36421790, 36655641, 38287462	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	24616178		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26654251, 35499926, 36845669, 37898918, 40562371	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	32512924, 38287462	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	19764075, 34126931, 36421790	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	20031554, 28758112, 34126931, 35870951, 36421790, 36759823	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	26813460	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	11118403, 18568463		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	19159907, 19764075, 25041994, 36794870, 37633908	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	17301815		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	17476281, 26598833, 27270164, 30024839, 31188929		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	17476281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematological Disease	Hematological Disease	LHGDN	17476281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematological Disease	Hematological Disease	CTD_human_DG	19159907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	16906320	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19448163	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	11460012, 19448163		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	18603540, 22411997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia, NOS	Hemophilia	BEFREE	18603540, 22411997		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	19959486, 22098125, 30819996	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	22203923	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoid	Pubtator	30830849	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	16791607		★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	12221667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	24737678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C	Hepatitis c	Pubtator	34644732	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	21854603	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	22664498		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	21334398		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	17595805, 22669161, 27237471	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	18505952, 21347786		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	17855693, 24916333		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	30273369	Associate	★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	26314858	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16391331		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	16538645	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	10679944, 10938012, 16629766, 27130656, 30768359, 8808490, 8979304		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	23866722, 32347013, 33057012, 39322052, 7726158, 9490685	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	CLINVAR_DG	10551815, 12673793, 15048559, 17409006, 20490923, 22887477, 24797679, 24997712, 25736335, 25856670, 26872964, 26898294, 27743313, 8940272, 9781030		★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	UNIPROT_DG	10679944, 20236116, 25736335, 25818041, 7726158, 8940272, 9781030		★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	BEFREE	10923034, 18615588, 1998339, 1998340, 20236116, 23124942, 25079578, 27130656, 29360980, 30408316, 7726158, 9781030		★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	CLINGEN_DG	11181567, 12733064, 20356773, 25736335, 27130656, 27743313, 7920641		★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	GENOMICS_ENGLAND_DG	24556013, 27604308, 29391032		★☆☆☆☆ Found in Text Mining only
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Homocystinuria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Huntington Disease	Huntington Disease	BEFREE	15354395, 16391331		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	15354395		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	16372906, 36902304	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	31601265		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	16184507	Associate	★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	23975093	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	18214047		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia Neonatal	Hyperbilirubinemia	Pubtator	23936521	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	16894468, 17143557, 26442927		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	26442927	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	9506661		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18280442, 25429430, 29264982		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18280442		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	29264982	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	10065893, 10190322, 10318658, 10360632, 10424670, 10428303, 10448523, 10456448, 10459572, 10519989, 10524453, 10559524, 10583261, 10595952, 10695265, 10765003, 10780318, 10958762, 11011848, 11057853, 11073851, 11094304, 11124649, 11168435, 11169021, 11216876, 11228493, 11277368, 11279637, 11281343, 11307798, 11319193, 11343335, 11351038, 11395038, 11420199, 11460881, 11531629, 11569694, 11592438, 11605787, 11721146, 11744407, 11747974, 11767028, 11823591, 11863127, 11943942, 11950428, 11958800, 12015164, 12038037, 12095808, 12187094, 12221667, 12242465, 12356186, 12406076, 12417280, 12471611, 12482550, 12551843, 12553950, 12714837, 12747593, 12747601, 12796225, 12797595, 12801615, 12877902, 12915598, 12964808, 14603192, 14608052, 14613740, 14624217, 14644077, 14656017, 14663048, 14698652, 14717963, 15048559, 15051606, 15121372, 15214944, 15226090, 15226189, 15336613, 15353918, 15354385, 15387863, 15458711, 15513477, 15648053, 15681105, 15698398, 15748240, 15773669, 15834927, 15837084, 15867279, 15968383, 15970629, 15985285, 16011963, 16076517, 16109904, 16181277, 16185908, 16244782, 16259797, 16262529, 16282888, 16299146, 16310481, 16380767, 16401615, 16418978, 16452733, 16595601, 16599836, 16629766, 16679643, 16682831, 16704755, 16802358, 16828193, 16905956, 16917400, 16958597, 17065574, 17114913, 17183715, 17200768, 17327360, 17354258, 17355415, 17384833, 17396161, 17510921, 17618244, 17688607, 17719079, 17914182, 17917766, 17925002, 17927652, 17966140, 17976958, 18074111, 18075008, 18076365, 18234410, 18360788, 18403793, 18670064, 18855261, 18958479, 19000982, 19056652, 19083485, 19135738, 19204075, 19261978, 19283524, 19565133, 19617462, 19646848, 19650814, 19694922, 19717029, 19748043, 19825913, 19846322, 19934557, 19937354, 19940469, 20031640, 20191019, 20473868, 20524928, 20594233, 20798492, 20888556, 20939734, 21070369, 21607713, 21878957, 22354693, 22377704, 22425167, 22628232, 22664498, 22665972, 22782530, 22807619, 22850357, 22928918, 22992862, 23107763, 23146986, 23285280, 23288205, 23337710, 23337711, 23526309, 23534584, 23612630, 23642756, 23866722, 23915182, 24019484, 24023349, 24052451, 24363223, 24459043, 24488901, 24923843, 25031284, 25054348, 25098357, 25326427, 26083986, 26282718, 26858257, 26865327, 26872964, 27187171, 27237471, 27431289, 27755291, 28002332, 28185308, 28342207, 28481466, 28689805, 29115087, 29202788, 29390494, 29421402, 29501539, 29600437, 29644956, 29658346, 29926428, 30633186, 31389788, 7825569, 8554066, 8994411, 9102178, 9264011, 9327760, 9506661, 9587041, 9587043, 9609218, 9826223, 9843457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	10323785, 10958762, 11169021, 11279637, 11531629, 11781870, 12221667, 14603192, 14717963, 15051606, 15114606, 15226189, 15497528, 15612980, 15750260, 15867279, 16262529, 16679643, 17183715, 17589670, 17908667, 18612269, 18855261, 19056652, 19094231, 19267198, 19657388, 19825913, 19934557, 1998340, 20191019, 20433440, 20888556, 21854603, 22129510, 22176285, 22377704, 22470444, 22510820, 22594584, 22628232, 22653243, 22665972, 23146986, 23172871, 23285280, 23288205, 23534584, 23698160, 23915182, 24019484, 24170727, 24459043, 24488901, 24923843, 25054348, 25604085, 25909872, 25955572, 26137654, 26142939, 27187171, 27237471, 27321094, 28002332, 28342207, 28481466, 29062354, 29115087, 29330520, 29390494, 29421402, 30633186, 30786773, 30999684, 31401974, 31586136, 31651110, 32161077, 32278343, 32549258, 32572074, 33219830, 33254541, 33550905, 33923969, 34145098, 35721657, 36607854, 36655641, 36806868, 37076800, 37101129, 37111114, 37491869, 37930095, 38287840, 39322052, 40453635, 8903338, 8940272, 9264011, 9607212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	CTD_human_DG	10459572, 15226090, 16317120, 16397167, 16411416, 16575899, 17387702, 18234410, 18551038, 19204075, 19646848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	LHGDN	12015164, 12187094, 12221667, 12471611, 14717963, 15648053, 15834927, 15867279, 15952099, 15970629, 16244782, 16381636, 16774768, 17275478, 17287626, 17327360, 17558844, 17719079, 18360788, 18403793, 18792976, 18855261, 19000982, 19111530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	17976958, 29428336	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	19263808, 23865383		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	11870335, 23865383	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	20065615	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	9506661		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	24218123		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	23534584		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	23534584	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	36845669	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	12797595, 18654952, 18855261, 19013496, 19330901, 20592457, 21270364, 22237773, 22277556, 22676332, 22897803, 23188888, 24189452, 24459043, 24959828, 25489783, 25973747, 26337056, 26654251, 26717388, 26839351, 26915609, 27322299, 29658358, 30372582, 30786773, 31029863, 31586136, 31815282, 32278343, 32410296, 32675800, 33172445, 33639933, 34242313, 34348647, 35060542, 35194526, 35346052, 35449864, 35562805, 35821207, 36299829, 36845669, 37154151, 38238653, 38287840, 39549999, 40158176, 40738729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	12242465, 12797595, 16077191, 16274479, 16377929, 17182005, 17333388, 17604826, 17726486, 18855261, 19013496, 19954568, 20637366, 20852445, 21270364, 21346782, 21613384, 22277556, 22676332, 22959498, 23188888, 23591986, 23608654, 24189452, 24458267, 24459043, 24505291, 24959828, 25055800, 25115547, 25304246, 26022245, 26442927, 26915609, 27051013, 27126505, 27170501, 27322299, 27720779, 27755385, 27780089, 27973469, 29027816, 29398535, 29501539, 30372582, 30786773, 31029863, 31155015, 31815282, 8403293, 9715796, 9863710		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	12775885, 15311088, 15750260, 16280279, 17333388, 17726486, 18068006, 18754019, 18855261		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	31066758	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	26337056, 30786773	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	36845669	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	23534584	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	15082892, 17010581, 19917450, 22286863, 23956991		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	LHGDN	15082892, 17010581		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	15082892, 32278343, 38287840	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	16282888, 23827456, 29796841		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	23128422		★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	BEFREE	10629572		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	26879531		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	40674756	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension Orthostatic	Orthostatic hypotension	Pubtator	22504314	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	31066758	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	18030499		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	18030499		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	28002332		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10486408, 10938012, 15582752, 17339646, 17344026, 19013496, 19342053, 21358708, 21607713, 22739363, 22890010, 23353103, 27111719, 30245375, 30288696		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	28241805		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18930220, 19324355, 19657388, 24737513, 25283235, 31173496, 32399796, 33914208, 36008980	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	19324355	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	21085488, 21857689, 22457816, 22692281, 24737513, 27232852, 28270024, 28842818, 33786731, 36655641	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10446107, 11569694, 16141796, 16249980, 16262529, 16614955, 17111197, 21967576, 23542077, 28002332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	10446107, 16249980, 16262529, 28002332, 37816983	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iniencephaly	Anencephaly	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17976958, 24488901, 29658358, 31200713	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	17149733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	18510799, 18782485, 20962791, 9605586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	32758174, 37327296	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	18799873		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	23460600	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Sinus Thrombophlebitis	Intracranial Sinus Thrombophlebitis	CTD_human_DG	18941937		★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	17456624, 21500982, 29168367, 31025572, 37076800	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	13678724, 23285018, 24474455		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	16249980		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	11307798, 32347013, 34241942	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	10397694, 10408794, 10572079, 10739378, 11672761, 11697722, 11779888, 11872884, 12196644, 14631084, 14644077, 15114595, 15576298, 15595935, 15773669, 15946211, 15947278, 16053469, 16567932, 16679643, 16787209, 16936384, 17098841, 17113927, 17290027, 17461517, 17589670, 17726226, 17962595, 18387982, 18511872, 18545887, 19049547, 19193985, 19372095, 19624857, 19646848, 19805823, 19934557, 19934565, 20110213, 20203488, 20637011, 21406306, 22555977, 22940147, 23201630, 23642756, 23866722, 24128767, 24132798, 24140489, 24846872, 24853127, 25144711, 25375269, 25440348, 25591425, 25966188, 26187788, 26776436, 26951304, 27378745, 27629735, 28760411, 28963520, 29390494, 29396624, 29398535, 29669328, 30572478, 30884202, 31775641, 9615905, 9743236, 9974399		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	31725629, 37204128	Associate	★☆☆☆☆ Found in Text Mining only
Isolated anencephaly	Isolated Anencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Isolated exencephaly	Isolated Exencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	16142884, 20595278, 29589488		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10027946, 10765003, 11531629, 11532106, 15126006, 17354258, 18280442, 18774994, 19376104, 21613384, 24711158, 29075332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	11532106, 16274479, 16760910, 21613384, 22897803, 26717388, 38238653	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	18551038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	10770966, 12644913, 12784186, 17966140, 20433440, 23534584, 23846111, 9733454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	11532106, 16557227, 19520684, 24785111, 9264011	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	17387702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	10430972, 11287760, 11532106, 11592445, 12187113, 12644913, 16158041, 17005529, 17899317, 19376104, 24363223, 25050994, 9264011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	LHGDN	17966140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	21613384	Associate	★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	16706930		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	21956592		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	23838799	Associate	★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	26535623	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	39769114	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	11768721, 15469701		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	23534584		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	23983171		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10029588, 11274424, 12453860, 12958073, 18339682, 20101025, 21873357, 22377705, 25793509, 26438060, 33930029	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11274424, 12453860, 12672676, 12958073, 15068389, 15967214, 16182363, 17156840, 17395259, 19005482, 22377705, 22441130, 26438060, 27966457		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12827651, 15068389, 18339682		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10536004, 11274424, 20101025, 26438060, 28374953	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	9054653	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12827651, 15068389, 17071478, 20101025, 21340720, 22441130, 24586405, 25080853, 27966457, 31188929		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17071478		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CTD_human_DG	15753437		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	19648163, 21509569, 23314736, 23865834, 25110820, 28747156, 29134491, 29186089		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	CTD_human_DG	19648163		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	11925474, 16080493, 16365753, 20923444, 20940365, 21737671, 22536935, 24488626, 26749456, 28138253		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	23840581		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15033905, 17503006, 17659576, 18336674, 18945219, 19035314, 23457501, 23996892, 24132589, 24316043, 24385382, 26081619, 26662389, 28082187, 30917367, 31282757, 31694048		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17503006, 17659576, 19035314		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15033905, 15698398, 18945219, 25987440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	LHGDN	15834927, 16381636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	16570355	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	15033905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	17503006, 26137554	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure Acute	Liver failure	Pubtator	27783703	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	17503006		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	21128869	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26951114		★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	16862068, 17618244, 19142139, 26171850		★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida aperta	Lumbosacral Spina Bifida Aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida cystica	Lumbosacral Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22052259	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15922487, 17389614, 18340404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	16334126, 20065319, 21342495, 22024018, 22144047, 22938410, 23372658, 24175756, 25536611, 25921104, 28236470, 34325549	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17389614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	11292195, 15293102, 15792676, 16061602, 16109904, 16835215, 19004141, 19853891, 19940469, 21561729, 22592843, 25586317, 27459142		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	10792297, 29501539		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	12027572, 15934123, 16802358, 19625220, 31173496, 35507987	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	10792297, 29501539		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10792297, 12027572, 15934123, 17664238, 17670851, 28943344, 29501539, 31444033		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	10792297, 29501539		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23244112, 31523170	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	12672676		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11342450, 14535593, 15551285, 15921520, 16886608, 21504712, 23174714, 37527941	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	14535593, 15289015, 15551285, 16462575, 17712558, 18458567, 21504712, 21509569, 26156333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	15551285, 18458567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	15551285	Inhibit	★★☆☆☆ 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, 16410450	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	15198953, 16410450, 19963111, 23359274		★★☆☆☆ 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, Intermediate-Grade	Intermediate Grade Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	16463153		★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell	Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ 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, 16365025, 16463153, 17488658, 17891500, 18042267, 18432505, 19391036, 21055808, 23174714, 23488607, 24646728, 25146845, 28430351, 28779180		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	16463153, 18432505, 19391036, 23174714, 23488607, 24646728, 25146845		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Cleaved-Cell, Follicular	Lymphoma	CTD_human_DG	16410450		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Noncleaved-Cell	Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Undifferentiated	Lymphoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11342344, 16944145		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	16538645	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	17855693, 24916333		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30796269	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16223965, 18165972, 23255668, 23900311, 24123968, 24532086, 24751310, 25012419, 26021967, 27035272, 29209581, 29595559, 30581206, 30898617, 9342205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	23255668, 23900311, 24123968, 24532086, 24751310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	18205772		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	16821630		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	18789576, 23098497, 25802478, 26035704		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12430180, 12602921, 14572159, 14734703, 14973091, 15004488, 15110890, 15150439, 15510613, 15598763, 15735051, 15736423, 15784178, 15837541, 15868433, 16097444, 16134079, 16630166, 16777985, 17063264, 17069650, 17105984, 17180579, 17260091, 17311260, 17372271, 17453338, 17476281, 17581305, 17584018, 17896178, 18095031, 18174236, 18669903, 18708404, 18798070, 18842997, 19123462, 19240236, 19336565, 19557016, 19706843, 19707223, 19759169, 20030812, 20135343, 20143151, 20417243, 20670164, 21052845, 21105050, 21161404, 21461582, 21822552, 21875371, 22134752, 22373582, 22799374, 22901194, 23155246, 23217001, 23393023, 23631762, 24023349, 24078451, 24130171, 24175799, 24945727, 24973876, 25075036, 25078601, 25081713, 25217320, 25270516, 25318348, 25566964, 25801246, 25803740, 25966173, 26014925, 26081619, 26163632, 26323926, 26537580, 26662439, 27173331, 27237471, 27404801, 27568010, 27614738, 27706773, 27824246, 28114181, 28123304, 28747156, 29544444, 30877449, 31523170, 31549463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16777985, 17595805		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	17301261, 26522108, 9450474		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12433726, 15790587, 16399440, 18840514, 19058336, 20473868, 21347786, 21517266, 21672255, 22292644, 22524840, 23534726, 23679298, 23803097, 24606463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	17979520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	11299748		★☆☆☆☆ 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	24014085, 24155211, 25337902, 26081619		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14981981, 15922487, 15941959, 16334126, 17259654, 17389614, 17468511, 18221821, 18340404, 18789576, 19118009, 20065319, 20532637, 21342495, 21605004, 22024018, 22144047, 22215214, 22901166, 22938410, 23237779, 23372658, 24142642, 25124620, 25536611, 25544260, 25921104, 26323926, 27173216, 28236470, 30323671, 31192962		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17389614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	11925474, 16080493, 16365753, 20923444, 20940365, 21737671, 24488626, 26749456, 28138253		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17063264, 20817226, 22524826, 22605962, 22810649, 22901131, 23098496, 23329275, 24129496, 24146277, 24720627, 26345746, 28123304, 9099956		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15941958, 16234002, 16234003, 18843018, 21441790, 22901202, 23098468, 23167392, 31701291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15298954, 15492840, 16374229, 17573062, 19223177, 19814618, 20564317, 20944139, 22296369, 22370724, 22938427, 23459165, 23508410, 25841988, 26107198, 26782572, 27819322, 27916838, 28685147		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17967524		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	16950800, 17627246, 25306137		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11494235, 15244514, 15643524, 16094648, 16158971, 16359859, 16758123, 16886608, 17220339, 17438114, 17438654, 17972183, 18006931, 18231104, 18505952, 18714187, 19288150, 19577428, 20056620, 20447923, 20470942, 20473868, 20504332, 20957490, 23534741, 23803092, 23897558, 23934457, 24122207, 24615072, 24737431, 24744129, 25170232, 25316230, 25337902, 25998065, 26833750, 27196483, 27823653, 30884202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	18505952, 21347786		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22536880, 24805831, 25007377, 25070812, 29511243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16217917, 17311259, 17574963, 18505952, 18815869, 19588544, 19837268, 20146887, 21046286, 22126575, 22296361, 22747749, 23578207, 23649653, 23773402		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	22747749		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10884945, 10941256, 10952104, 11075868, 11122847, 11916749, 12060127, 12163703, 12175537, 12576444, 12649184, 12757770, 14608109, 14633777, 14735204, 15150439, 15161007, 15298954, 15492840, 15523694, 15635481, 15921520, 16045580, 16234002, 16234003, 16272757, 16374229, 16538645, 16777985, 16950805, 17000706, 17063264, 17089070, 17151928, 17208363, 17350979, 17365577, 17389614, 17438654, 17488658, 17573062, 17704422, 17712558, 17846906, 17970089, 18006931, 18199718, 18202788, 18205772, 18322814, 18340404, 18662591, 18714187, 19035314, 19336565, 19759169, 20193847, 20367562, 20417243, 20445408, 20473868, 20516537, 20551579, 21211571, 21489764, 21732284, 21848426, 21984221, 22194208, 22296369, 22605962, 22901194, 23444906, 23648444, 23803051, 23996892, 24023349, 24276031, 24385382, 24533714, 24615072, 24737431, 24744129, 25075036, 25510667, 25841988, 25966173, 26081619, 26156333, 26218632, 26598833, 26745044, 26951114, 26991917, 27062459, 28696419, 29390492, 29511243, 29740106, 29804062, 30356105, 31170928		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	28353639		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10928104, 15581963, 15635481, 15703836, 18351371, 19760026, 21052817, 21731042, 22711309, 22901193, 23029458, 23057736, 23070908, 23285018, 23431363, 23490201, 23864153, 24474455, 26156333, 26879954, 27771518, 29740106, 31170928, 31750632		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10385141, 12163703, 12496052, 12576444, 14633777, 14973104, 15161007, 15829374, 16103455, 16152599, 16886608, 17449906, 18712959, 19123462, 19256756, 19326430, 20551579, 20920350, 23314736, 24533714, 25339013, 26081619		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	16284371		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	12522558, 25149392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malnutrition	Malnutrition	CTD_human_DG	16709328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16777985, 17595805		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15004488, 15510613, 15868433, 16097444, 16134079, 16777985, 17119067, 17151928, 17260091, 17476281, 17584018, 18095031, 18174236, 18842997		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16777985, 17595805		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19240236, 27905104		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16777985, 17595805		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	17074966		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	17074966		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	14613740		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	16941173		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	15311088, 21346782, 24505291		★☆☆☆☆ Found in Text Mining only
Maxillofacial Abnormalities	Maxillofacial Abnormalities	CTD_human_DG	16832597		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	17074966		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	18030499, 21500982		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	23484733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	16821630, 23276705, 23846816, 28915669		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	16821630, 18483342, 30583664, 34169999	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18447718		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	30583664	Inhibit	★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	10517251, 10594879, 14735580, 18937358, 22241680, 23227261, 25565354		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	CTD_human_DG	16602021		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	11722155, 12450963, 12796225, 18165972, 18801628, 18981340, 19235787, 19251870, 19650814, 21125200, 21635773, 21772318, 22668858, 22739363, 23116396, 23285094, 23900311, 24373005, 24532086, 25012419, 26177556, 26620113, 26681493, 26926881, 27035272, 27626182, 28427558, 28968218, 30898617, 9342205, 9774778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	23586533, 24373005, 24532086, 25012419, 26177556		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	15582752, 16545905, 17074966, 18983889, 21185933, 22832733, 30397195, 9342205		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18510799, 18782485, 20962791, 9605586		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	11168435, 28924877, 28963520		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	18523009, 19225123, 25318605	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17491230, 17976958, 19267885, 20724652, 22370993, 22690662, 22832733, 25429430, 25432492, 27321094, 29658358, 34371949, 36806868	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16682831, 17976958, 19083485, 20163778, 20547447, 21473680, 22370993, 22832733, 23201630, 23341251, 24624915, 24827988, 25429430, 25432492, 25841618, 26621002, 26902996, 29658358, 30465841		★☆☆☆☆ Found in Text Mining only
Methylcobalamin Deficiency, CblG Type	Methylcobalamin Deficiency	BEFREE	8979304, 9453374		★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	BEFREE	10923034, 18615588, 1998339, 1998340, 20236116, 23124942, 25079578, 27130656, 29360980, 30408316, 7726158, 9781030		★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	CLINGEN_DG	11181567, 12733064, 20356773, 25736335, 27130656, 27743313, 7920641		★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	8903338	Associate	★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	BEFREE	12667409, 15126006		★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	CTD_human_DG	16681562		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	17491230, 28481466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvascular Angina	Microvascular Angina	CTD_human_DG	17491230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvascular Angina	Microvascular angina	Pubtator	17491230	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	11121176, 12654508, 15053827, 15893594, 15953655, 16365871, 16686913, 16866710, 17116097, 17300365, 17714520, 17927652, 17962595, 18957721, 19081115, 19298544, 19384265, 19673907, 19925624, 21270470, 21635773, 22193458, 22290307, 22375693, 22926161, 23161188, 23430981, 23811028, 23915182, 23975093, 24040787, 24183284, 24609082, 25039261, 27483173, 29379315, 29427165, 30170616, 30451038, 31739474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	Pubtator	15053827, 18672474, 19384265, 19673907, 21635773, 23430981, 23915182, 23975093, 27976555, 30170616	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	LHGDN	17711493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	15053827, 17116097, 17300365, 17714520, 17962595, 18672474, 18957721, 19673907, 19925624, 21635773, 22375693, 23230240, 23430981, 23915182, 25039261, 25598270, 29427165, 30451038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine	Pubtator	15053827, 18672474, 19673907, 21635773, 23230240, 23430981, 23915182, 30170616	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	LHGDN	18672474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine	Pubtator	19673907	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine without Aura	Migraine	Pubtator	23915182	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	12784029, 25625218		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	10233370, 10634828, 10655323, 11506076, 12039122, 12042290, 15214944, 16431900, 17217367, 23685927, 26630680, 27525841, 28689805, 28703660, 29785531, 30001659, 30986448, 31172624, 31317253		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	15582752		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	24276031		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15564899, 23586533, 9774778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	15564899, 16691128, 23586533, 9774778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor neuron atrophy	Motor neuron atrophy	BEFREE	31812845		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	21920473	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	16080493, 26749456	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	25098357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	BEFREE	25098357		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Mthfr Deficiency, Thermolabile Type	MTHFR Deficiency	CLINGEN_DG	11181567, 12733064, 20356773, 25736335, 27130656, 27743313, 7920641		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	28779180		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	17488658, 22045187, 34614057	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	11342344, 12060127, 12648076, 17655928, 18350248, 21067440, 26022785		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	18350248		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16564429, 17113603, 17304657, 19854238, 21190091, 23523621, 25203152, 26150166, 31038186, 31145465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	19854238, 24412677, 25625218, 31038186, 32355262	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	24412677		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	27999265	Associate	★☆☆☆☆ Found in Text Mining only
Myelocele	Myelocele	CTD_human_DG	16602021		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27449989		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27449989	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	15068389, 24894669		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	15068389		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15068389, 15569990, 16920564, 17156840, 22132838, 22441130, 22576927, 24338216, 24379141, 24966971, 25080853, 25510667, 26854451, 27966457, 31188929, 31396477		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	15569990, 17156840		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10090925, 10337543, 10381497, 10454299, 10456448, 10488956, 11096270, 11303694, 11457468, 11672761, 12615788, 12891167, 14660985, 14717963, 15820491, 16216822, 16420563, 16894468, 17360059, 17920139, 18255072, 19330466, 21749215, 21780915, 22154679, 22222489, 22339112, 23274712, 27179899, 29331485, 29916259, 31497444, 8758047, 8873653, 9051203, 9350916, 9649939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	10090925, 11303694, 12615788, 14717963, 22750768, 23171482, 23274712, 36279151, 36876682	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12891167, 14717963, 15351230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	11950428, 12220440, 12417280, 15950563, 16194201, 21311765, 24458267, 26843177, 29996520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	24452036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	29534533	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20721969		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	29186089	Associate	★☆☆☆☆ Found in Text Mining only
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	BEFREE	23936521		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	34169999	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10203598, 11282420, 12107847, 12163691, 12618332, 12730865, 12738713, 14506892, 14572159, 15161007, 15523694, 16234003, 16307843, 16463153, 16512993, 16866026, 16941173, 17047490, 17208363, 17301267, 17476281, 18034621, 18039426, 18202788, 18205772, 18595133, 19465420, 19669769, 20039875, 20368715, 20385995, 20870238, 20920350, 20957490, 21504712, 21603981, 21822058, 22051736, 22296361, 22392251, 23296054, 23444906, 23504555, 23996892, 24108782, 24533714, 24592886, 24615072, 24744129, 26046315, 26456456, 26537580, 26564107, 26749456, 27840191, 31216671, 9625844		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19346876, 25536437		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	Pubtator	21613384	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	14564498, 18030499		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	18030499		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	21064136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	9453374		★★☆☆☆ 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	10024094, 10090889, 10190266, 10234517, 10323741, 10440833, 10444342, 10517251, 10607475, 10695265, 10732818, 10833329, 10923034, 10958762, 10998450, 11102926, 11170082, 11274424, 11337744, 11470464, 11568918, 11592447, 11813127, 11880124, 11913566, 12111380, 12384833, 12431255, 12649066, 12673279, 12694231, 12730722, 12812837, 14616766, 14656028, 14969589, 15060097, 15259035, 15306729, 15921520, 15937947, 16374895, 16602006, 16672082, 17085942, 17111379, 17439956, 17510921, 17621650, 17951123, 18022874, 18074687, 19129707, 19178434, 19609317, 19894660, 20589617, 20672355, 20887110, 21367581, 21770021, 21792640, 22265089, 22856873, 22903727, 23056169, 23116396, 23489792, 23593147, 24131523, 24223810, 24323870, 24588777, 24737468, 24990354, 25005003, 25788000, 25808073, 25855017, 27173682, 27323133, 29222906, 29392422, 29566195, 30120883, 30474229, 30633186, 30867013, 31238314, 8542260, 8826441, 8935478, 9068801, 9327028, 9341863, 9510851, 9545395, 9663401, 9774778, 9843036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	10090889, 10551815, 10958762, 11274424, 11781870, 12384833, 12594357, 15060097, 15921520, 17035141, 19178434, 19803295, 20031554, 20589617, 22903727, 24223810, 24323870, 27323133, 27649570, 29222906, 30415495, 30633186, 30867013, 32347013, 32410296, 33923969, 34090432, 36538104, 36655641, 8935478, 8940272, 9327028, 9545395	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	LHGDN	11880124, 12180076, 12594357, 12730722, 12810988, 17085942, 17618486, 18068170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	23056169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25536437		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32295184	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19421414, 25054348, 27380243, 27585654	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15390052, 19421414, 27585654		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	Pubtator	27976555	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	27976555	Associate	★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	22193458		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	CTD_human_DG	19391036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	BEFREE	23314736, 25110820, 28747156, 29134491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	Pubtator	28747156, 29186089	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Non rare thrombophilia	Non Rare Thrombophilia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17356914, 23547829, 24051448, 24488901, 26031974, 27128842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	16247718, 19477879, 26196053		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12883704, 15217535, 16334126, 21605004, 22889494, 22901166, 23463763, 24063603, 24142642, 25104092, 26277606, 29186089, 29299150		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	17563923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	11423453, 15007309, 23401650		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28192769, 9451725		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17993766, 18180959, 18426813, 19437140, 20400894, 24189452, 24218123, 25432492, 26016497, 26315791, 26902996, 27322299, 27793164, 27983710, 29027816, 30217759, 31496910, 31671528		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20664391, 25432492, 25612568, 25846410, 27322299, 27793164, 27983710, 29694640, 31671528, 32019154, 33455465, 37106323	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	29658358	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	30992611		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	19477879		★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi disease	Pubtator	22665972	Associate	★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	24301776	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	16861746, 16888682, 21138341, 22457816, 22928696, 25428700, 26380869, 28440964, 31127676		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	21067440		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	19421414		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	18796459, 23401650	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuropathy, Ischemic	Optic Neuropathy	LHGDN	15007309		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	19894660, 31663440		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	15051775, 22528943		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	BEFREE	23665953		★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	20572854		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	21254359, 27167580, 38219184	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23089924	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	18350352, 20229089, 9840906	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	16169307, 19037576		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	12674333, 15018490, 15777680, 17174622, 17712717, 22377704, 24014470, 25981594, 29534533		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	12674333, 15952099		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	17174622, 22377704, 24014470, 29534533, 39310265	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	19037576		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18498722, 27837635		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18498722		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19159907, 27837635	Associate	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	20696177, 23161188		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	30922641	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	22713864, 26874989		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	16009185, 31115963		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	16009185, 30922641	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12471611, 17063264		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17063264, 20817226, 22524826, 22605962, 22810649, 22901131, 23098496, 23329275, 24129496, 24146277, 24720627, 26345746, 28123304		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16011963, 20817226, 22524826, 22605962, 37628752, 9099956	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15941958, 16234002, 16234003, 18843018, 21441790, 22901202, 23098468, 23167392, 31701291		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18843018		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24895587, 27473058, 29474406	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	23468971	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	LHGDN	18636416		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	23273201		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24535271		★☆☆☆☆ Found in Text Mining only
Paraparesis	Paraparesis	Pubtator	30544400	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15354385, 15929053, 16787708, 17691219, 17914182, 19786283, 21070756, 22354693, 22890010, 23916622, 24052451, 24064257, 24628244, 25564416, 25648260, 26806866, 27613114, 29097250, 30726997, 31428686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	15929053, 17966954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	17691219, 25909872, 27613114	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	30726997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	17914182		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	16373366, 24566197		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	26879531		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	21951971		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	16274479, 32633259, 7647779	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	14675090, 15886665, 16274479, 19157768, 21104445, 22983814, 26865327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	23468971		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	23468971, 23901246, 28231061, 37522679	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	23468971		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	14660985, 19157768, 21104445, 26865327		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	LHGDN	16274479, 19157768		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	21394321	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21069446, 30552741		★☆☆☆☆ Found in Text Mining only
Petrous Sinus Thrombophlebitis	Petrous Sinus Thrombophlebitis	CTD_human_DG	18941937		★☆☆☆☆ Found in Text Mining only
Petrous Sinus Thrombosis	Petrous Sinus Thrombosis	CTD_human_DG	18941937		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11821270, 12574198, 17454207, 20960113, 22882325, 28081274, 28938654, 30743312, 31454542, 31470081		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	12574198, 17454207		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	17454207, 27321094, 28081274, 31482954, 33407572	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	23828072		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	11454529, 11734671		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	31146742		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	10655256, 11122096, 15947552, 25987440, 27603544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	20374270		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10029588, 11408344, 15003888, 16182363, 16462575, 16463153, 16897583, 17035405, 17512587, 18458567, 18804702, 18989887, 19391036, 20121554, 20445408, 21117954, 21495160, 21702646, 22094326, 22528943, 22943282, 23986219, 24237708, 24276031, 24377532, 24637499, 24908438, 24919644, 25065700, 25115513, 25342508, 25629981, 27996344, 28990296, 29390492, 29911750, 30545275, 31499477		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12958073, 16870553, 16923565, 17962051, 18154909, 18458567, 19034339		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	16706930		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	22713864, 26874989		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10486408, 11328206, 11589919, 12364720, 22668858, 26926955, 9129727		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	25054348, 27585654		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	20237949		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	10765003		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15298954, 15492840, 16374229, 17573062, 19223177, 19814618, 20564317, 20944139, 22296369, 22370724, 22938427, 23459165, 23508410, 25841988, 26107198, 26782572, 27819322, 27916838, 28685147		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15298954, 16374229, 17573062, 17846906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17967524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22296369, 23275280, 26107198, 27819322, 27916838	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protein C Deficiency	Protein C Deficiency	BEFREE	10029588, 10572079, 12638077, 14631084, 15781933, 17360059, 25326427		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	11292195, 14723717, 15781933, 16109904, 24517966		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	15834927, 21854603, 22676358		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19016697, 19484352, 25449138, 25966157, 26212228, 27828634, 28028860, 28776552, 30084051		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	30999684	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	22217364		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28192769, 9451725, 9774778		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	31401974, 39769114	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	12797595, 29027816	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	12165282		★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	CTD_human_DG	19123085		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	21482894, 25350484, 31015243		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	31015243	Associate	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	BEFREE	16202738		★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	CTD_human_DG	27713094		★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	31651110	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	15829374, 16152599, 17047490, 17245555, 18540691, 18712959, 22045187, 23098510, 26456456, 28044213		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	LHGDN	17047490, 17245555		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	21462086, 21603981		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	23665953		★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	25012419		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	28002332		★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	11918280, 19043368		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18098291, 22106923, 26191297, 31242814		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	11918280, 12242465, 12784186, 19937354, 23534584, 23846111, 24241962		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33035787	Associate	★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	CTD_human_DG	17488658		★☆☆☆☆ Found in Text Mining only
Retinal Artery Occlusion	Retinal Artery Occlusion	BEFREE	12095808		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	12667409, 15902512, 16274479, 18280442, 18774994, 23901246		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	16015408	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	10485556, 12877902, 15513477, 19729099, 19825913, 23289804, 24440586, 24519513, 25428529, 28085519, 31418317, 9863710		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20310006, 22648968, 26914443		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	27018927		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	37511576	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	26813460		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	26813460	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11710708, 11927833, 12684695, 15361376, 16272757, 16438485, 16439441, 16758511, 17213520, 17965559, 17985847, 18034620, 18195462, 18274813, 19283524, 19333678, 19578646, 20067328, 20423475, 20514079, 21773884, 21931346, 22044028, 22377704, 22927710, 23095111, 23547211, 23685257, 24624914, 24794492, 24967362, 25163740, 26077125, 26147289, 26314492, 26599798, 26843177, 27338350, 27423206, 27692391, 27846189, 27992285, 28215593, 28266606, 28299396, 28544525, 28994615, 29501539, 29796841, 30546311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12684695, 18034620, 18274813, 18328173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	22104130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Riboflavin Deficiency	Riboflavin Deficiency	BEFREE	14704292		★☆☆☆☆ Found in Text Mining only
Riboflavin Deficiency	Riboflavin deficiency	Pubtator	14704292, 36264281	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	18498722		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	18498722		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10424670, 10889537, 14499487, 14572619, 15564899, 15729744, 15806605, 16076517, 16084002, 16172608, 16545905, 16641680, 16969279, 17074966, 17188847, 17344026, 17503473, 17543893, 17716874, 18165967, 18186041, 18988738, 19564051, 19746410, 19939410, 20044984, 20418067, 20547447, 20692813, 20694488, 21093223, 21185933, 21190096, 21302350, 21334854, 21980405, 22022190, 22128864, 22690662, 22813657, 23076983, 23318463, 23341251, 23353103, 23586533, 24229535, 24535549, 24938371, 25101272, 27025471, 27810229, 28427558, 28556887, 28862175, 29202425, 30397195, 31302825, 31476590, 9342205, 9451725, 9774778		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	LHGDN	15289817, 15564899, 16084002, 16172608, 16545905, 17074966, 17344026, 17543893, 17716874, 18165967, 18988738		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	CTD_human_DG	16641680, 17074966, 18583979		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	Pubtator	17976958, 22370993, 25101272, 27932499, 31401974, 32347013, 32497019, 39769114	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	GWASDB_DG	22037552		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia, Childhood	Schizophrenia	BEFREE	31302825		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	37239884	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	12738713, 21044746, 23407049, 24338217, 27001121, 30213564		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	12027572, 30442198, 35904038, 37491869	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	22424391		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	30273369		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27603544		★☆☆☆☆ Found in Text Mining only
Severe depression	Mental Depression	BEFREE	18801628		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	17149733		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	10583261		★☆☆☆☆ Found in Text Mining only
Sinus Thrombosis, Intracranial	Sinus Thrombosis, Intracranial	BEFREE	18666857, 19703820, 23172871		★☆☆☆☆ Found in Text Mining only
Sinus Thrombosis, Intracranial	Sinus Thrombosis, Intracranial	CTD_human_DG	18941937		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28779180, 31173496	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	25616102		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29421402	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin lesion	Skin Lesion	BEFREE	17548696, 29421402		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	20146869		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12883704, 17468511		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	17533396	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	10494095, 10594879, 10833329, 11074490, 12546192, 12707953, 12812837, 17479212, 18937353, 19493349, 19683694, 21204206, 24323870, 24588777, 24737468, 27713094, 7564788, 8826441, 9068801, 9349452, 9611072, 9663401, 9667406, 9863598		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	12590188, 12797455		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CTD_human_DG	27713094		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina bifida aperta of cervical spine	Spina Bifida	ORPHANET_DG	22241680		★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	10594879, 14735580		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	BEFREE	14616766		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	16361298		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	CTD_human_DG	16361298		★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	31812845		★☆☆☆☆ Found in Text Mining only
Splenic Hypoplasia	Splenic Hypoplasia	BEFREE	29330520		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	15004488, 21113649, 28330681		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16950800, 18266839, 20346029, 21342495, 26218632, 28353639, 30142181		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17206530, 17627246, 17684410, 18266839		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	11309278, 14652285, 15449187, 17206530, 18199718, 21375764, 21672255, 22126580, 22524840, 22853296, 23244153, 23534726, 24393513, 24687778, 27323028, 28046029, 31754346		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17596206, 21180947, 21460376, 26535623, 26749456, 32079256	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	17627246, 20346029		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15688408, 17596206, 21180947, 21460376, 21556759, 22051736		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	20637366, 22440940, 28689750		★☆☆☆☆ Found in Text Mining only
Status Dysraphicus	Status Dysraphicus	CTD_human_DG	27713094		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15834927, 17356914, 17900242, 18662278, 21854603, 23547829		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11494235, 15244514, 15643524, 16094648, 16158971, 16359859, 16758123, 16886608, 17220339, 17438114, 17438654, 17972183, 18006931, 18019157, 18231104, 18505952, 18714187, 19288150, 19577428, 20056620, 20447923, 20470942, 20473868, 20504332, 20957490, 23534741, 23803092, 23897558, 23934457, 24122207, 24615072, 24737431, 24744129, 25170232, 25316230, 25337902, 25998065, 26833750, 27196483, 27823653, 30884202		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12133463, 12411076, 15643524, 16094648, 17171786, 17438114, 17438654, 17972183, 18162478, 18704422, 18714187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	15244514, 16158971, 16886608, 17201138, 18231104, 20237899, 20504332, 23183616, 23534741, 23803092, 23934457, 24490800, 24615072, 24737431, 25337902, 25840420, 25998065, 27456431, 30884202, 32758174, 33322951	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	18505952, 21347786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	26345936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	BEFREE	15051775, 22528943, 27452984		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	25041994, 27452984	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	11307798, 14693836, 15497528, 16624841, 16782775, 16906320, 16936384, 17098841, 18560453, 21394321, 21678004, 22275392, 22594584, 23285280, 23547211, 24090469, 24132798, 24189452, 25452597, 25700330, 27234992, 32278343, 32512924, 34979665, 37898918, 38167461, 38287840, 39796592, 40691374, 9840906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29926428		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	27068821		★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	16679164		★☆☆☆☆ Found in Text Mining only
Superficial Thrombophlebitis	Superficial Thrombophlebitis	BEFREE	20881312		★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	21070369		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	10583261		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	10583261		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19093229		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	18042267		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	16133896		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	LHGDN	16133896		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	21046286		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	26244436		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	23056169		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	19894660, 29762087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracolumbosacral spina bifida aperta	Thoracolumbosacral spina bifida aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida cystica	Thoracolumbosacral spina bifida cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	19245802, 30819996		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	30819996	Associate	★☆☆☆☆ Found in Text Mining only
Thromboangiitis Obliterans	Thromboangiitis obliterans	Pubtator	17000887	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	23828072		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	17488658, 25104092	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thromboembolism	Thromboembolism	Pubtator	10446107, 12469051, 16188774, 16379339, 17911197, 19715531, 23866722, 32347013, 9490685	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	10411807, 10680639, 10706928, 10739378, 10759281, 11738073, 11821094, 12172465, 12637218, 12712097, 14691342, 15821810, 15834246, 16015408, 16093732, 16109904, 16305681, 16450127, 16791607, 16962918, 17043779, 17295258, 17627684, 17688607, 18160589, 18803625, 19131586, 19461414, 19710606, 19839754, 19939360, 19940469, 20637588, 20881312, 21482894, 22173239, 22512572, 22521752, 23288205, 23665953, 23866722, 25074331, 25149392, 25977387, 26135458, 26315791, 27459142, 27855570, 29407626, 30313110, 30819996, 31187948, 31389788, 31725629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	11426488, 11821094, 12555209, 15497023, 15678268, 15748240, 15821810, 15834246, 16015408, 16184507, 17456620, 18160589, 18160591, 18191809, 19520681, 19715531, 19909951, 19939360, 19959486, 20514310, 20592457, 23109751, 23288205, 23321260, 23364160, 23866722, 23975911, 24569626, 25153695, 25912774, 26978887, 27223647, 27511516, 27525841, 27855570, 29264982, 30313110, 30819996, 31725629, 32021228, 32347013, 32525847, 37241083, 40005435, 40453635, 9792287	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	LHGDN	16015408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	CTD_human_DG	17493413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia hereditary	Thrombophilia	Pubtator	18840629, 19520681, 22750768, 24235948, 31173496, 36980916	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia, hereditary	Thrombophilia	BEFREE	11426488, 22103678, 23795816		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10029588, 10440914, 10929044, 11122096, 11426488, 12361206, 15114606, 15834246, 16080493, 16173969, 16679643, 17000887, 17456626, 17911197, 18796459, 19353312, 19448163, 19520684, 19825918, 20017223, 21500982, 21869933, 22707612, 22773907, 23146986, 23162020, 23975911, 24170727, 24627725, 26102090, 28390428, 29916259, 31571711, 33370962, 33462011, 36845669, 36980916, 39322052, 40453635, 40691374, 9054653, 9840906, 9878639	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	12522678, 15192249, 15528884, 17456624, 18941937, 20121554, 22721898, 23314385, 25074331, 26083986		★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis of retinal vein	Thrombosis of retinal vein	BEFREE	19825913		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	19448163		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	27430300		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22536880, 24805831, 25007377, 25070812, 29511243		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	15447919, 31066758	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	25007377		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22536880, 24805831, 25007377, 25070812, 29511243		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29511243	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	18941937		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	CTD_human_DG	18941937		★☆☆☆☆ Found in Text Mining only
Total spina bifida aperta	Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Total spina bifida cystica	Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	10408794, 20833086, 9562260, 9950259		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	10408794, 11307798, 20833086, 9562260, 9950259		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	21046286		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	28842818	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25801246		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25801246, 32497019, 34242313	Associate	★☆☆☆☆ Found in Text Mining only
Trisomy 21, Meiotic Nondisjunction	Trisomy 21	CTD_human_DG	16353284, 16489479, 16845273, 17431899		★☆☆☆☆ Found in Text Mining only
Trisomy 21, Mitotic Nondisjunction	Trisomy 21	CTD_human_DG	16353284, 16489479, 16845273, 17431899		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	19169497, 22283972, 25858821, 26217949		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	22283972, 26217949	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	14560147, 17156138, 18700049, 20594233, 23542077, 28002332		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	18700049		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	16223965, 17074966, 18165972, 23255668, 24123968, 24751310, 26021967, 29209581, 29595559, 30581206, 9342205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	CTD_human_DG	17074966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	23255668, 23900311, 24123968, 24532086, 24751310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Upper thoracic spina bifida aperta	Upper Thoracic Spina Bifida Aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida cystica	Upper Thoracic Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	21612398, 23670871		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	9264011		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	9264011	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22126575, 22747749, 28348449, 32340630, 40570095	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	Pubtator	32228104	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	29472622		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	17303386, 20130515, 21897271, 24474455, 25302494	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	17303386		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24474455, 29740106, 31750632	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicocele	Varicocele	BEFREE	24456105		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	26137554	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	20881312, 26137554, 27097558		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	21394321	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	10318658, 10477457, 10494095, 10706059, 10720211, 10819868, 10847236, 10923034, 11169021, 11274015, 11395038, 11520404, 12049616, 12052604, 12242465, 12356186, 14698652, 15053827, 15126006, 15921520, 16259797, 16564429, 17966140, 18855261, 19646848, 21482894, 22375042, 22507617, 22592843, 23285280, 23665953, 23901246, 24310797, 25304246, 26757363, 7647779, 8935478, 8989110, 9569181, 9712345, 9737770, 9826223, 9870206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	10323785, 10551815, 11169021, 11274424, 11279637, 11531629, 15053827, 15921520, 17449548, 18855261, 22594584, 23285280, 26137654, 26915609, 30557982, 32347013, 32512924, 37204128, 7647779, 8935478	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	CTD_human_DG	19646848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Malformations	Vascular malformation	Pubtator	31725629	Associate	★☆☆☆☆ Found in Text Mining only
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	17000887	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	26137554	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	10029588, 15009459, 15886665, 19520679, 20229089, 21078611, 22628232, 23288205, 23866722, 26915609, 27686649, 29916259, 34325549, 40453635, 9217179, 9792287	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	10360908, 10929044, 11122096, 11781870, 15096570, 15114595, 16188774, 16379339, 16634748, 17442092, 17591934, 18293456, 18800213, 19353312, 22707612, 23364160, 24170727, 24627725, 24715181, 25357225, 25604085, 25973747, 26261166, 27221722, 27805237, 28252168, 29439641, 29855758, 30303041, 31571711, 32021228, 37101129, 9490685	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	26261166	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28758112		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	12522678, 15192249, 18941937, 22721898, 23314385		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin a deficiency	Pubtator	31401974	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	12747601, 15952099, 17449548, 21878957, 22084937, 22664498, 26137654, 28094233, 28936998, 30581350, 9453374		★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	16445837, 16988141, 17449548, 17908667, 19094231, 22470444, 26137654, 28094233, 37101129	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	22846211, 24472005, 29395581, 31778995		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	30720153	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	22846211, 24472005, 29395581, 31778995		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	19959486		★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15612980	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	17549067		★☆☆☆☆ Found in Text Mining only