DNMT3A (DNA methyltransferase 3 alpha)

Gene

• Entrez ID: 1788
• Gene name: DNA methyltransferase 3 alpha
• Gene symbol: DNMT3A
• Synonyms (NCBI Gene): DNMT3A2, HESJAS, M.HsaIIIA, TBRS
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA met

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144689354	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs147001633	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs147828672	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs149095705	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs370376334	G>A,C	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs377577594	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs587777506	CAC>-	Pathogenic	Inframe deletion, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777507	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777508	A>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777509	A>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777510	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs745380962	C>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs745714537	A>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748082838	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs750325978	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs757823678	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs759380437	G>A,C,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs762213449	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs763189481	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs766858016	T>A,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs767226511	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs771174392	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs779626155	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs781139634	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs796065342	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs797044904	C>A,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs886041641	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs920946076	T>A,C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057520788	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1131691760	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1164367418	C>-,CC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1200243711	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1395575712	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs1553412022	A>-,AA	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553412485	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553412880	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553413823	CTG>TT	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1553414070	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553414406	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553414444	AGACTCCCCG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553423604	->C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553427894	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1558650888	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1558653090	AT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558669964	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558671136	CTGGTGGAAC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558697970	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1573291900	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1573297136	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1573313314	AGGCCCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1573338559	GCTCAGCGGCA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1573340335	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1573340475	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT003021	hsa-miR-29a-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT000716	hsa-miR-143-3p	real time qRT-PCR, Luciferase reporter assay, Western blot	19638978
MIRT000716	hsa-miR-143-3p	real time qRT-PCR, Luciferase reporter assay, Western blot	19638978
MIRT000716	hsa-miR-143-3p	Luciferase reporter assay	19638978
MIRT003021	hsa-miR-29a-3p	Luciferase reporter assay	17890317
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay	17890317
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay	17890317
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay	19211935
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay	19211935
MIRT003021	hsa-miR-29a-3p	Review	20130964
MIRT000716	hsa-miR-143-3p	Review	20026422
MIRT003021	hsa-miR-29a-3p	Review	20029422
MIRT003021	hsa-miR-29a-3p	Immunohistochemistry, Microarray, Western blot	20643754
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Microarray, Western blot	20643754
MIRT003028	hsa-miR-29c-3p	Immunohistochemistry, Microarray, Western blot	20643754
MIRT005897	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	20979124
MIRT005960	hsa-miR-369-5p	Luciferase reporter assay	21660946
MIRT003029	hsa-miR-29b-3p	qRT-PCR, Western blot	21266537
MIRT003029	hsa-miR-29b-3p	qRT-PCR, Western blot	21266537
MIRT003029	hsa-miR-29b-3p	qRT-PCR, Western blot	21266537
MIRT007188	hsa-miR-101-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23124077
MIRT007188	hsa-miR-101-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23124077
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	23516428
MIRT016379	hsa-miR-193b-3p	Microarray	20304954
MIRT005960	hsa-miR-369-5p	Reporter assay	21660946
MIRT003028	hsa-miR-29c-3p	Reporter assay;Other	17890317
MIRT003029	hsa-miR-29b-3p	Reporter assay;Other	17890317
MIRT003021	hsa-miR-29a-3p	Reporter assay;Other	17890317
MIRT040898	hsa-miR-18a-3p	CLASH	23622248
MIRT053568	hsa-miR-200b-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23995857
MIRT053571	hsa-miR-200c-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23995857
MIRT003029	hsa-miR-29b-3p	qRT-PCR, Western blot	23179556
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23100393
MIRT000716	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blot	24218337
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25874772
MIRT725553	hsa-miR-340-5p	HITS-CLIP	19536157
MIRT725552	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT725551	hsa-miR-4528	HITS-CLIP	19536157
MIRT725550	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725549	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT725548	hsa-miR-3689d	HITS-CLIP	19536157
MIRT725547	hsa-miR-6851-5p	HITS-CLIP	19536157
MIRT658955	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT658954	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT658953	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT658952	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT658951	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT440789	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT440789	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT003028	hsa-miR-29c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	26453978
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003029	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT053571	hsa-miR-200c-3p	qRT-PCR	27198154
MIRT053571	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27498672
MIRT053571	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27498672
MIRT053568	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	28345813
MIRT053568	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	28345813
MIRT003021	hsa-miR-29a-3p	Microarray, qRT-PCR	26251039
MIRT733117	hsa-miR-30a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	31695416
MIRT725553	hsa-miR-340-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT000716	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT734024	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT725553	hsa-miR-340-5p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT000716	hsa-miR-143-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT734024	hsa-miR-145-5p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT735985	hsa-miR-30c-5p	Western blotting, qRT-PCR, ELISA	32961441
MIRT003021	hsa-miR-29a-3p	Western blotting, qRT-PCR, ELISA	32961441
MIRT736297	hsa-miR-181a-5p	Microarray, Immunoprecipitaion (IP), qRT-PCR, ELISA	32098627
MIRT733117	hsa-miR-30a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31897176
MIRT003021	hsa-miR-29a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33717269
MIRT658955	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT658954	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT658953	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT658952	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT658951	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT755691	hsa-miR-603	Western blotting, qRT-PCR, in vitro cullelar assays	35770296
MIRT942518	hsa-miR-1207-5p	CLIP-seq
MIRT942519	hsa-miR-1248	CLIP-seq
MIRT942520	hsa-miR-1271	CLIP-seq
MIRT942521	hsa-miR-143	CLIP-seq
MIRT942522	hsa-miR-1470	CLIP-seq
MIRT942523	hsa-miR-149	CLIP-seq
MIRT942524	hsa-miR-182	CLIP-seq
MIRT942525	hsa-miR-2964a-5p	CLIP-seq
MIRT942526	hsa-miR-3120-3p	CLIP-seq
MIRT942527	hsa-miR-3143	CLIP-seq
MIRT942528	hsa-miR-3179	CLIP-seq
MIRT942529	hsa-miR-3185	CLIP-seq
MIRT942530	hsa-miR-3202	CLIP-seq
MIRT942531	hsa-miR-4256	CLIP-seq
MIRT942532	hsa-miR-4270	CLIP-seq
MIRT942533	hsa-miR-4290	CLIP-seq
MIRT942534	hsa-miR-4300	CLIP-seq
MIRT942535	hsa-miR-4433	CLIP-seq
MIRT942536	hsa-miR-4441	CLIP-seq
MIRT942537	hsa-miR-4453	CLIP-seq
MIRT942538	hsa-miR-4459	CLIP-seq
MIRT942539	hsa-miR-4476	CLIP-seq
MIRT942540	hsa-miR-451b	CLIP-seq
MIRT942541	hsa-miR-4538	CLIP-seq
MIRT942542	hsa-miR-4687-5p	CLIP-seq
MIRT942543	hsa-miR-4704-3p	CLIP-seq
MIRT942544	hsa-miR-4716-3p	CLIP-seq
MIRT942545	hsa-miR-4723-5p	CLIP-seq
MIRT942546	hsa-miR-4736	CLIP-seq
MIRT942547	hsa-miR-4747-5p	CLIP-seq
MIRT942548	hsa-miR-4763-3p	CLIP-seq
MIRT942549	hsa-miR-4768-3p	CLIP-seq
MIRT942550	hsa-miR-4770	CLIP-seq
MIRT942551	hsa-miR-490-3p	CLIP-seq
MIRT942552	hsa-miR-495	CLIP-seq
MIRT942553	hsa-miR-543	CLIP-seq
MIRT942554	hsa-miR-548c-3p	CLIP-seq
MIRT942555	hsa-miR-578	CLIP-seq
MIRT942556	hsa-miR-589	CLIP-seq
MIRT942557	hsa-miR-718	CLIP-seq
MIRT942558	hsa-miR-920	CLIP-seq
MIRT942559	hsa-miR-96	CLIP-seq
MIRT942560	hsa-miR-1183	CLIP-seq
MIRT942561	hsa-miR-200b	CLIP-seq
MIRT942562	hsa-miR-200c	CLIP-seq
MIRT942563	hsa-miR-3622a-3p	CLIP-seq
MIRT942564	hsa-miR-3622a-5p	CLIP-seq
MIRT942565	hsa-miR-3622b-3p	CLIP-seq
MIRT942566	hsa-miR-429	CLIP-seq
MIRT942567	hsa-miR-4423-3p	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT1979073	hsa-miR-1207-3p	CLIP-seq
MIRT1979074	hsa-miR-1224-3p	CLIP-seq
MIRT1979075	hsa-miR-1238	CLIP-seq
MIRT1979076	hsa-miR-1244	CLIP-seq
MIRT1979077	hsa-miR-1255a	CLIP-seq
MIRT1979078	hsa-miR-1255b	CLIP-seq
MIRT1979079	hsa-miR-1260	CLIP-seq
MIRT1979080	hsa-miR-1260b	CLIP-seq
MIRT1979081	hsa-miR-1280	CLIP-seq
MIRT1979082	hsa-miR-132	CLIP-seq
MIRT1979083	hsa-miR-136	CLIP-seq
MIRT1979084	hsa-miR-144	CLIP-seq
MIRT1979085	hsa-miR-150	CLIP-seq
MIRT1979086	hsa-miR-188-3p	CLIP-seq
MIRT1979087	hsa-miR-199a-3p	CLIP-seq
MIRT1979088	hsa-miR-199b-3p	CLIP-seq
MIRT1979089	hsa-miR-2052	CLIP-seq
MIRT1979090	hsa-miR-2116	CLIP-seq
MIRT1979091	hsa-miR-212	CLIP-seq
MIRT1979092	hsa-miR-2276	CLIP-seq
MIRT1979093	hsa-miR-3124-3p	CLIP-seq
MIRT1979094	hsa-miR-3129-5p	CLIP-seq
MIRT1979095	hsa-miR-3156-3p	CLIP-seq
MIRT1979096	hsa-miR-3183	CLIP-seq
MIRT1979097	hsa-miR-3192	CLIP-seq
MIRT1979098	hsa-miR-3613-5p	CLIP-seq
MIRT1979099	hsa-miR-3652	CLIP-seq
MIRT1979100	hsa-miR-3682-5p	CLIP-seq
MIRT1979101	hsa-miR-3689a-3p	CLIP-seq
MIRT1979102	hsa-miR-3689c	CLIP-seq
MIRT1979103	hsa-miR-4301	CLIP-seq
MIRT1979104	hsa-miR-4307	CLIP-seq
MIRT1979105	hsa-miR-4430	CLIP-seq
MIRT1979106	hsa-miR-4505	CLIP-seq
MIRT1979107	hsa-miR-4639-3p	CLIP-seq
MIRT1979108	hsa-miR-4677-5p	CLIP-seq
MIRT1979109	hsa-miR-4678	CLIP-seq
MIRT1979110	hsa-miR-4694-5p	CLIP-seq
MIRT1979111	hsa-miR-4713-5p	CLIP-seq
MIRT1979112	hsa-miR-4723-3p	CLIP-seq
MIRT1979113	hsa-miR-4728-5p	CLIP-seq
MIRT1979114	hsa-miR-4738-3p	CLIP-seq
MIRT1979115	hsa-miR-4768-5p	CLIP-seq
MIRT1979116	hsa-miR-4772-3p	CLIP-seq
MIRT1979117	hsa-miR-4782-5p	CLIP-seq
MIRT1979118	hsa-miR-4795-3p	CLIP-seq
MIRT1979119	hsa-miR-532-3p	CLIP-seq
MIRT1979120	hsa-miR-564	CLIP-seq
MIRT1979121	hsa-miR-627	CLIP-seq
MIRT1979122	hsa-miR-668	CLIP-seq
MIRT1979123	hsa-miR-924	CLIP-seq
MIRT1979124	hsa-miR-942	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT2518560	hsa-miR-106a	CLIP-seq
MIRT2518561	hsa-miR-106b	CLIP-seq
MIRT1979074	hsa-miR-1224-3p	CLIP-seq
MIRT2518562	hsa-miR-1233	CLIP-seq
MIRT1979076	hsa-miR-1244	CLIP-seq
MIRT1979079	hsa-miR-1260	CLIP-seq
MIRT1979080	hsa-miR-1260b	CLIP-seq
MIRT1979081	hsa-miR-1280	CLIP-seq
MIRT1979082	hsa-miR-132	CLIP-seq
MIRT1979084	hsa-miR-144	CLIP-seq
MIRT2518563	hsa-miR-17	CLIP-seq
MIRT1979086	hsa-miR-188-3p	CLIP-seq
MIRT1979087	hsa-miR-199a-3p	CLIP-seq
MIRT1979088	hsa-miR-199b-3p	CLIP-seq
MIRT2518564	hsa-miR-20a	CLIP-seq
MIRT2518565	hsa-miR-20b	CLIP-seq
MIRT1979091	hsa-miR-212	CLIP-seq
MIRT2518566	hsa-miR-2861	CLIP-seq
MIRT2518567	hsa-miR-298	CLIP-seq
MIRT2518568	hsa-miR-29a	CLIP-seq
MIRT2518569	hsa-miR-29b	CLIP-seq
MIRT2518570	hsa-miR-29c	CLIP-seq
MIRT2518571	hsa-miR-3121-5p	CLIP-seq
MIRT1979094	hsa-miR-3129-5p	CLIP-seq
MIRT1979095	hsa-miR-3156-3p	CLIP-seq
MIRT2518572	hsa-miR-3168	CLIP-seq
MIRT2518573	hsa-miR-3190	CLIP-seq
MIRT1979097	hsa-miR-3192	CLIP-seq
MIRT2518574	hsa-miR-3609	CLIP-seq
MIRT1979098	hsa-miR-3613-5p	CLIP-seq
MIRT1979099	hsa-miR-3652	CLIP-seq
MIRT2518575	hsa-miR-3678-5p	CLIP-seq
MIRT1979101	hsa-miR-3689a-3p	CLIP-seq
MIRT1979102	hsa-miR-3689c	CLIP-seq
MIRT2518576	hsa-miR-4294	CLIP-seq
MIRT1979104	hsa-miR-4307	CLIP-seq
MIRT2518577	hsa-miR-4419a	CLIP-seq
MIRT1979105	hsa-miR-4430	CLIP-seq
MIRT2518578	hsa-miR-4432	CLIP-seq
MIRT2518579	hsa-miR-4457	CLIP-seq
MIRT1979106	hsa-miR-4505	CLIP-seq
MIRT2518580	hsa-miR-4510	CLIP-seq
MIRT942542	hsa-miR-4687-5p	CLIP-seq
MIRT2518581	hsa-miR-4727-5p	CLIP-seq
MIRT1979113	hsa-miR-4728-5p	CLIP-seq
MIRT1979114	hsa-miR-4738-3p	CLIP-seq
MIRT2518582	hsa-miR-4762-3p	CLIP-seq
MIRT2518583	hsa-miR-4769-3p	CLIP-seq
MIRT1979117	hsa-miR-4782-5p	CLIP-seq
MIRT2518584	hsa-miR-4796-3p	CLIP-seq
MIRT2518585	hsa-miR-488	CLIP-seq
MIRT2518586	hsa-miR-519d	CLIP-seq
MIRT2518587	hsa-miR-539	CLIP-seq
MIRT2518588	hsa-miR-548ah	CLIP-seq
MIRT1979120	hsa-miR-564	CLIP-seq
MIRT1979122	hsa-miR-668	CLIP-seq
MIRT2518589	hsa-miR-671-5p	CLIP-seq
MIRT2518590	hsa-miR-720	CLIP-seq
MIRT2518591	hsa-miR-767-5p	CLIP-seq
MIRT2518592	hsa-miR-93	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT2518560	hsa-miR-106a	CLIP-seq
MIRT2518561	hsa-miR-106b	CLIP-seq
MIRT1979074	hsa-miR-1224-3p	CLIP-seq
MIRT2518562	hsa-miR-1233	CLIP-seq
MIRT1979076	hsa-miR-1244	CLIP-seq
MIRT1979079	hsa-miR-1260	CLIP-seq
MIRT1979080	hsa-miR-1260b	CLIP-seq
MIRT1979081	hsa-miR-1280	CLIP-seq
MIRT1979082	hsa-miR-132	CLIP-seq
MIRT1979084	hsa-miR-144	CLIP-seq
MIRT2518563	hsa-miR-17	CLIP-seq
MIRT1979086	hsa-miR-188-3p	CLIP-seq
MIRT1979087	hsa-miR-199a-3p	CLIP-seq
MIRT1979088	hsa-miR-199b-3p	CLIP-seq
MIRT2518564	hsa-miR-20a	CLIP-seq
MIRT2518565	hsa-miR-20b	CLIP-seq
MIRT1979091	hsa-miR-212	CLIP-seq
MIRT2518566	hsa-miR-2861	CLIP-seq
MIRT2518567	hsa-miR-298	CLIP-seq
MIRT2518568	hsa-miR-29a	CLIP-seq
MIRT2518569	hsa-miR-29b	CLIP-seq
MIRT2518570	hsa-miR-29c	CLIP-seq
MIRT2518571	hsa-miR-3121-5p	CLIP-seq
MIRT1979094	hsa-miR-3129-5p	CLIP-seq
MIRT1979095	hsa-miR-3156-3p	CLIP-seq
MIRT2518572	hsa-miR-3168	CLIP-seq
MIRT2518573	hsa-miR-3190	CLIP-seq
MIRT1979097	hsa-miR-3192	CLIP-seq
MIRT2518574	hsa-miR-3609	CLIP-seq
MIRT1979098	hsa-miR-3613-5p	CLIP-seq
MIRT1979099	hsa-miR-3652	CLIP-seq
MIRT2518575	hsa-miR-3678-5p	CLIP-seq
MIRT1979101	hsa-miR-3689a-3p	CLIP-seq
MIRT1979102	hsa-miR-3689c	CLIP-seq
MIRT1979104	hsa-miR-4307	CLIP-seq
MIRT1979105	hsa-miR-4430	CLIP-seq
MIRT2518578	hsa-miR-4432	CLIP-seq
MIRT2518579	hsa-miR-4457	CLIP-seq
MIRT1979106	hsa-miR-4505	CLIP-seq
MIRT942542	hsa-miR-4687-5p	CLIP-seq
MIRT2518581	hsa-miR-4727-5p	CLIP-seq
MIRT1979113	hsa-miR-4728-5p	CLIP-seq
MIRT1979114	hsa-miR-4738-3p	CLIP-seq
MIRT2518582	hsa-miR-4762-3p	CLIP-seq
MIRT2518583	hsa-miR-4769-3p	CLIP-seq
MIRT1979117	hsa-miR-4782-5p	CLIP-seq
MIRT2518584	hsa-miR-4796-3p	CLIP-seq
MIRT2518585	hsa-miR-488	CLIP-seq
MIRT2518586	hsa-miR-519d	CLIP-seq
MIRT2518587	hsa-miR-539	CLIP-seq
MIRT2518588	hsa-miR-548ah	CLIP-seq
MIRT1979120	hsa-miR-564	CLIP-seq
MIRT1979122	hsa-miR-668	CLIP-seq
MIRT2518589	hsa-miR-671-5p	CLIP-seq
MIRT2518590	hsa-miR-720	CLIP-seq
MIRT2518591	hsa-miR-767-5p	CLIP-seq
MIRT2518592	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MDM2	Activation	22733537
RB1	Repression	22733537
SALL3	Unknown	19139273
SP1	Activation	15362956
SP2	Activation	15362956
SP3	Unknown	15362956
WT1	Activation	23042785

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23042785
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19786833
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000791	Component	Euchromatin	IDA	12138111
GO:0000792	Component	Heterochromatin	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19786833, 23042785
GO:0001741	Component	XY body	IEA
GO:0003677	Function	DNA binding	EXP	29414941
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	19786833
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IBA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IDA	12138111, 19786833
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16357870, 16682412, 16983096, 17713477, 19234465, 19798101, 19834512, 21976679, 24074865, 25383530, 25416956, 31515488, 32051553, 32296183, 32814053, 32968275, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12138111, 25743254
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	25383530
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12138111
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IMP	30478443
GO:0007283	Process	Spermatogenesis	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016363	Component	Nuclear matrix	IDA	12138111
GO:0016740	Function	Transferase activity	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031048	Process	Regulatory ncRNA-mediated heterochromatin formation	IGI	23435381
GO:0031507	Process	Heterochromatin formation	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032259	Process	Methylation	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042802	Function	Identical protein binding	IPI	24656771
GO:0043045	Process	Epigenetic programming of gene expression	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IDA	12138111, 19786833, 23042785
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0045322	Function	Unmethylated CpG binding	EXP	29414941
GO:0045471	Process	Response to ethanol	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19786833
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071361	Process	Cellular response to ethanol	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071514	Process	Genomic imprinting	IEA
GO:0097284	Process	Hepatocyte apoptotic process	IEA
GO:0106222	Function	LncRNA binding	IDA	23435381
GO:0106222	Function	LncRNA binding	IEA
GO:0106363	Function	Protein-cysteine methyltransferase activity	IEA
GO:0106363	Function	Protein-cysteine methyltransferase activity	ISS
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	IEA
GO:1900039	Process	Positive regulation of cellular response to hypoxia	IEA
GO:1902494	Component	Catalytic complex	IPI	25383530
GO:1903926	Process	Cellular response to bisphenol A	IEA

Other IDs

• MIM: 602769
• HGNC: 2978
• e!Ensembl: ENSG00000119772

Protein

• UniProt ID: Q9Y6K1
• Protein name: DNA (cytosine-5)-methyltransferase 3A (Dnmt3a) (EC 2.1.1.37) (Cysteine methyltransferase DNMT3A) (EC 2.1.1.-) (DNA methyltransferase HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)
• Protein function: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (
• PDB: 2QRV, 3A1A, 3A1B, 3LLR, 3SVM, 4QBQ, 4QBR, 4QBS, 4U7P, 4U7T, 5YX2, 6BRR, 6F57, 6PA7, 6W89, 6W8B, 6W8D, 6W8J, 8BA5, 8QZM, 8TDR, 8TE1, 8TE3, 8TE4, 8U5H, 8UW1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00855	PWWP	290 → 377	PWWP domain	Domain
  PF17980	ADD_DNMT3	475 → 530	Cysteine rich ADD domain in DNMT3	Domain
  PF00145	DNA_methylase	634 → 776	C-5 cytosine-specific DNA methylase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung. {ECO:0000269|PubMed:10325416}.
• Sequence:

  MPAMPSSGPGDTSSSAAEREEDRKDGEEQEEPRGKEERQEPSTTARKVGRPGRKRKHPPV
  ESGDTPKDPAVISKSPSMAQDSGASELLPNGDLEKRSEPQPEEGSPAGGQKGGAPAEGEG
  AAETLPEASRAVENGCCTPKEGRGAPAEAGKEQKETNIESMKMEGSRGRLRGGLGWESSL
  RQRPMPRLTFQAGDPYYISKRKRDEWLARWKREAEKKAKVIAGMNAVEENQGPGESQKVE
  EASPPAVQQPTDPASPTVATTPEPVGSDAGDKNATKAGDDEPEYEDGRGFGIGELVWGKL
  RGFSWWPGRIVSWWMTGRSRAAEGTRWVMWFGDGKFSVVCVEKLMPLSSFCSAFHQATYN
  KQPMYRKAIYEVLQVASSRAGKLFPVCHDSDESDTAKAVEVQNKPMIEWALGGFQPSGPK
  GLEPPEEEKNPYKEVYTDMWVEPEAAAYAPPPPAKKPRKSTAEKPKVKEIIDERTRERLV
  YEVRQKCRNIEDICISCGSLNVTLEHPLFVGGMCQNCKNCFLECAYQYDDDGYQSYCTIC
  CGGREVLMCGNNNCCRCFCVECVDLLVGPGAAQAAIKEDPWNCYMCGHKGTYGLLRRRED
  WPSRLQMFFANNHDQEFDPPKVYPPVPAEKRKPIRVLSLFDGIATGLLVLKDLGIQVDRY
  IASEVCEDSITVGMVRHQGKIMYVGDVRSVTQKHIQEWGPFDLVIGGSPCNDLSIVNPAR
  KGLYEGTGRLFFEFYRLLHDARPKEGDDRPFFWLFENVVAMGVSDKRDISRFLESNPVMI
  DAKEVSAAHRARYFWGNLPGMNRPLASTVNDKLELQECLEHGRIAKFSKVRTITTRSNSI
  KQGKDQHFPVFMNEKEDILWCTEMERVFGFPVHYTDVSNMSRLARQRLLGRSWSVPVIRH
  LFAPLKEYFACV

• Sequence length: 912

Pathways

KEGG:

Cysteine and methionine metabolism
Metabolic pathways
Efferocytosis
MicroRNAs in cancer

Reactome:

PRC2 methylates histones and DNA
RMTs methylate histone arginines

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 the nervous system	Likely pathogenic; Pathogenic	rs147001633	RCV001814155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1674056899, rs1313738991, rs147001633, rs377577594, rs779626155, rs757823678, rs771174392, rs759380437, rs1573338559	RCV005025733 RCV002249029 RCV000430182 RCV000429128 RCV003338604 RCV004796213 RCV000760250 RCV000760251 RCV001003799	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs2149307214, rs1674056899, rs759747476, rs149095705	RCV001871979 RCV002226414 RCV003127441 RCV003233631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clonal Cytopenia of Undetermined Significance	Likely pathogenic; Pathogenic	rs147001633	RCV003153242	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DNMT3A-related disorder	Likely pathogenic; Pathogenic	rs2465481804, rs767692203, rs147001633, rs377577594, rs755744291, rs1673065619	RCV004548607 RCV003410447 RCV004545768 RCV004745372 RCV004746302 RCV004746305	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early T cell progenitor acute lymphoblastic leukemia	Pathogenic	rs796065342	RCV000190418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EBV-positive nodal T- and NK-cell lymphoma	Pathogenic; Likely pathogenic	rs2465573611, rs1195416744, rs773260349, rs149095705, rs147001633, rs377577594, rs778270132	RCV004560236 RCV004560237 RCV004560239 RCV004559047 RCV004559051 RCV004559052 RCV004557460	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioblastoma	Likely pathogenic	rs1558650888	RCV000785978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heyn-Sproul-Jackson syndrome	Likely pathogenic; Pathogenic	rs1674056899, rs1674986110, rs2465557288, rs2149307985, rs377577594, rs757823678, rs1573340475, rs1573340335	RCV005025733 RCV003228061 RCV003330113 RCV003991135 RCV005869413 RCV004796213 RCV000986095 RCV000986096	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoparathyroidism	Likely pathogenic	rs962805778	RCV005626631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs1352259738, rs376830288, rs147001633, rs1675087282, rs1558650788	RCV001328488 RCV004017987 RCV004017608 RCV001255352 RCV001260611	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Pathogenic	rs754613602	RCV003222461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Likely pathogenic; Pathogenic	rs1553414070	RCV006254076	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs745380962	RCV000984105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal hypotonia	Likely pathogenic; Pathogenic	rs2149307214	RCV001376132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs147001633, rs377577594	RCV004668919 RCV005230283	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs960019580, rs1465829182, rs377577594	RCV001780007 RCV002277693 RCV001374980	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs1674465974	RCV001256990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tatton-Brown-Rahman overgrowth syndrome	Pathogenic; Likely pathogenic	rs1352259738, rs2149307214, rs568207978, rs1558665485, rs754506713, rs2149288538, rs762213449, rs944608317, rs772041639, rs759936287, rs766110518, rs903011938, rs574130689, rs2149289125, rs866917013, rs587777506, rs587777507, rs587777508, rs587777509, rs587777510, rs750515748, rs1674056899, rs754223052, rs779626155, rs757211277, rs754613602, rs2149365370, rs2465557541, rs2465522454, rs201882909, rs752222356, rs775933506, rs764855628, rs1240736156, rs766858016, rs1674811011, rs1558669897, rs1432383727, rs2465469627, rs776844136, rs2465786402, rs2465537504, rs2465563641, rs770785915, rs2466005252, rs2465500248, rs2465314655, rs1056677010, rs771906613, rs766506181, rs1400330086, rs2465399013, rs1178623915, rs760791871, rs149095705, rs147001633, rs377577594, rs757823678, rs139293773, rs1553414406, rs1553412880, rs1164367418, rs750325978, rs1553412485, rs1558671136, rs1558653090, rs1558669964, rs771174392, rs759380437, rs1553412022, rs1573297136, rs1395575712, rs758845779, rs778270132, rs1674744924, rs770305758, rs755744291	RCV003584898 RCV001871979 RCV001382894 RCV001384839 RCV001527373 RCV001563649 RCV005094823 RCV001706757 RCV001706950 RCV001775240 RCV003832391 RCV001801261 RCV003772257 RCV001839358 RCV002046908 RCV000128558 RCV000128559 RCV000128560 RCV000128561 RCV000128562 RCV002030720 RCV002226414 RCV002273282 RCV002289228 RCV002463468 RCV002651442 RCV002898735 RCV002876950 RCV002971830 RCV003031398 RCV003140539 RCV003153226 RCV003227565 RCV003227566 RCV000256441 RCV003320002 RCV003320345 RCV003330172 RCV003585556 RCV003584060 RCV003584278 RCV003584227 RCV003584327 RCV003746731 RCV003746821 RCV003747155 RCV003746055 RCV003747530 RCV003747559 RCV003985952 RCV003990738 RCV004515751 RCV004555214 RCV004595164 RCV004595165 RCV003233631 RCV000524775 RCV000590987 RCV001237885 RCV000505187 RCV005865015 RCV000549667 RCV000652288 RCV000677140 RCV000677427 RCV000677682 RCV000690485 RCV000700133 RCV000696106 RCV000760250 RCV000760251 RCV000778096 RCV000803514 RCV000812887 RCV000798433 RCV001227614 RCV001245491 RCV001258351 RCV003222290	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR-CELL METASTATIC RENAL CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNMT3A-RELATED MICROCEPHALIC DWARFISM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DWARFISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pheochromocytoma and paraganglioma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloproliferative disorder	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA VERA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LEARNING DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	22289988, 23031157		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23031157		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21399634, 22081665, 23632886, 23962568, 24514424, 24656771, 25371149, 25650308, 27149454, 27288520, 27528035, 28061354, 28215704, 28616699, 28767575, 29843647, 30185810, 30692594, 31145495, 31291961, 31620784		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	CTD_human_DG	21399634		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	26707798		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	29491461		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22081665, 26707798, 27528035, 29254789		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	26285909		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27237029		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24837369		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16870044		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331, 37528470	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	23251566, 27470916, 27881874, 28767575, 31291961		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27543768, 31066180		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	31124216		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26371346, 36646969	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26079324, 26371346		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31453788		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22090490		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	32243522, 37160316	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	25139356, 26132940, 29720492, 34587721, 37087521	Associate	★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	24345752, 24413734, 24413737, 27177312, 27353473, 28634614, 28889481, 29662631, 30952970		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	CTD_human_DG	24413737		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29115606, 31372043		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	31001930		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31001930	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	36291095	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31001930		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	31504400, 32639511, 36680616	Associate	★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	28349196	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25042153, 30366082, 34125889, 40305610	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30366082	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26892683		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23687089, 27203213, 30252567, 36796016	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33779075, 36835370	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35724849	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31685998	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30786140, 36758877	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	25290267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30786140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25290267		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25290267	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29074164		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	24350829		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31522815		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36864496	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31624251		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	28669403	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	21857377, 30906331		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	29748604, 30906331	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	26375248, 37558665	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25284287		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	22520950	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	34529785	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	33961341	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	38170948	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31527824, 31685998	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	22520950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	24218337, 24464625, 25358520, 25684141, 28252641, 28393842, 30324719, 31266372, 31327173, 31660998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19358274, 20625516, 22419067, 22520950, 24218337, 26070560, 28252641, 28393842, 31660998, 36361596, 36774339, 39597087, 39913285	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	17548962, 20128888, 20467490, 21352603, 22722925, 24289567, 24423239, 24622842, 24667323, 26191165, 26254611, 26350239, 28423585, 31640986, 31843451, 35063646	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26862732	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23031157		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	31101826	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	30614867	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20467490, 26254611, 31843451, 33247696, 34148029, 34319031, 35077478, 36291095, 38565301	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24292451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25284287, 26677113		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17890317, 22733537, 23031157, 23284304, 25210796, 28123563, 28425913, 31695416		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24423239, 29115606	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25550796, 28160561, 36536414	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24394434	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	30614867		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23666104, 27748882, 29993160, 30365936		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34644003	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34644003, 35979940	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34713710	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33582159	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29728415		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32639511, 35339897, 35931086	Associate	★☆☆☆☆ Found in Text Mining only
CATSHL syndrome	Catshl syndrome	Pubtator	31685998	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25426837, 38170948	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	38170948	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	38170948	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26191165, 28459195, 31661141		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26191165, 28459195, 31661141		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	25242092		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	21504050, 28767575		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27543768, 31066180		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37486965, 37932819	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27134162		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22898539, 24914952, 26697989, 27016502, 30366920, 30692594		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11230735, 17549390		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	37558665	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	CTD_human_DG	27292127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	34382870	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26862732, 31812712, 38238335	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24837369		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19638978, 24282031, 24837369, 24887488, 25966133, 29278853, 29719581, 31058532, 31614132		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19638978, 24324066, 29278853, 29719581, 32711442, 34024817, 34623601, 35212022	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35063646	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26725685		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	21857377, 30906331		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	31851787	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27292127		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	36097025, 39460851	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	34125889	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	CTD_human_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	34561436, 38238335	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	27881874, 29866652, 30861111, 31707836, 32442302, 32639511, 33242405, 34050697, 34793200, 34963005, 36097025, 36281508, 36727396, 37381752, 38170948, 39456832, 40305610	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18954998, 28262826, 28345813, 28614801, 30808485, 31239244, 31522815		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31582562		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29091029		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29091029		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31811564	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23879380	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35940555	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	27364355, 30496316	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30496316		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20398054, 29721185		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27245352		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27245352	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	CTD_human_DG	30478443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10325416, 10433969, 10555141, 10647011, 11399089, 12138111, 12359337, 12575993, 1423634, 15063176, 15672446, 15739230, 16357870, 16501171, 16725135, 17445268, 17878930, 19344873, 19854944, 20228804, 20651149, 20729844, 21067377, 21507354, 21844811, 22495306, 23849776, 24614070, 26866722, 2717398, 27701732, 27991732, 28386848, 28475857, 28667884, 28941052		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37887281	Stimulate	★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	30614867		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Encephalomalacia	Encephalomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28386848		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30614867		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37175518, 37847338	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17081533		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17081533, 22233680	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22233680		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28386848		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	31426844	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	21826395, 31426844		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	27447873	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	31426844		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	12821352, 19218588		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	24252647		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	31151028	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	34529785	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	23632886	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17653095, 25625222		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma	Glioblastoma	Pubtator	30002361, 31371348	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma	Glioblastoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma Multiforme	Glioblastoma	BEFREE	17653095, 25625222		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28454437, 30323870		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	30366082	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	33961341	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	34793200	Stimulate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	34596815	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24614070, 28560437, 29802153, 31160375	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto disease	Pubtator	27237591	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	30111769	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30566180, 32639511, 33779075, 33832602, 35339897, 38242884	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	27717004, 34053991, 34125889	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23031157, 23507483, 24413737, 24614070, 24914952, 27133822, 27134162, 27300438, 28003281, 28286768, 28905428, 28941052, 29324392, 29617651, 30419846		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24614070, 24914952, 29324392, 30475948, 34050697, 34239136, 34570179, 37160317	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	21993668, 22744846, 28167789		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	27636998		★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	30861111	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	26850594	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	39377506	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21752916, 34164626	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	21937623	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20543577	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27012941, 29746587, 30385847	Associate	★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	18683034, 22321265		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22081665		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26111027, 27092400		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	28894282	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34561436, 38238335	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31766080	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24614070, 28386848		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	24614070		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	24614070, 34721301, 39734048	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	21828135, 22773603, 24497509, 26071459, 27733013, 28102729, 29227812, 29464054		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457647		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	26453978	Associate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	31624251	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11222358, 21504050, 21880636, 22395470, 24403256, 25326804, 25732814, 25994761, 26676635, 27733013, 27881874, 28215704, 29324392, 29619119, 31018948, 31707836, 32597790, 32763180, 34880109, 35973983, 36163326, 36934225, 37591941, 37853686	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	21399634, 23284304, 23507483, 27133822, 27134162, 27300438, 27335278, 27344947, 28003281, 28364352, 28425913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	36450978	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	22162831, 30245403	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11222358, 19211935, 21067377, 21415852, 21504050, 21880636, 21881046, 21979949, 21993668, 22066015, 22077061, 22291079, 22308499, 22490330, 22507776, 22535592, 22642896, 22722925, 22912701, 22976956, 23251566, 23365461, 23632886, 24142997, 24280869, 24606448, 24614070, 24656771, 24659740, 24866170, 24895580, 24914952, 24986689, 25022553, 25281355, 25381129, 25554589, 25592687, 25609058, 25650308, 25932436, 25964253, 25994761, 26223865, 26234722, 26375248, 26434589, 26438511, 26486081, 26676635, 26755712, 27050425, 27062340, 27288520, 27359055, 27419369, 27478011, 27528035, 27546487, 27748863, 27881874, 27983727, 28070990, 28215704, 28220884, 28418922, 28767575, 28830460, 28877686, 28960408, 28992762, 29079128, 29321554, 29324392, 29518238, 29556023, 29619119, 29702001, 29786546, 29988143, 30049810, 30245403, 30282643, 30745814, 30988238, 31004019, 31018948, 31145495, 31151028, 31160375, 31291961, 31348835, 31373163, 31620784, 31638252, 31640986, 31685998, 31742675, 31808755, 31861499, 32091281, 32231256, 32385248, 32461631, 32476595, 32699322, 32728112, 32833294, 32970934, 33152396, 33161783, 33299888, 33433047, 33491606, 33592069, 33711909, 33784904, 33876209, 34001134, 34100902, 34164626, 34258102, 34410352, 34516636, 34873300, 34880109, 35130342, 35269477, 35385357, 35390143, 35485701, 35549661, 35558161, 35901322, 35967966, 35973983, 36163326, 36291567, 36303144, 36329185, 36370049, 36508705, 36580013, 36591215, 36610002, 36645547, 36861732, 36912186, 36951163, 36964937, 36991512, 37079859, 37180104, 37459200, 37591941, 37670476, 37839675, 37853686, 38019014, 38253683, 39334207, 39519198, 40133836, 40226311, 40557158	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32597790	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	21828135, 27733013, 28102729, 35236051, 35443559	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	28767575	Associate	★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	Lymphoblastic Leukemia	BEFREE	29288910		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19211935, 21067377, 21415852, 21445072, 21612874, 21670448, 21880636, 21881046, 21967546, 21979949, 21993668, 22066015, 22077061, 22081665, 22289988, 22490330, 22642896, 22722925, 22744846, 22749068, 23031157, 23178755, 23632886, 23640996, 23645565, 23962568, 24280869, 24283755, 24497509, 24514424, 24522528, 24606448, 24614070, 24656771, 24887327, 24914952, 24936645, 24986689, 25172541, 25281355, 25303747, 25371149, 25554589, 25592687, 25609058, 25650308, 25693834, 25721756, 25795706, 25891904, 25964253, 25994761, 26071459, 26242829, 26375248, 26434589, 26482067, 26755712, 26992835, 27050425, 27149454, 27288520, 27335278, 27359055, 27458708, 27476855, 27528035, 27636548, 27636998, 27724883, 27841873, 27881874, 27991732, 28003281, 28061354, 28215704, 28286768, 28288143, 28345823, 28418922, 28461508, 28616699, 28643785, 28767575, 28872462, 28905428, 28941052, 28992762, 29024628, 29324392, 29518238, 30185810, 30245403, 30692594, 30705090, 30926392, 30988238, 31077215, 31145495, 31149783, 31291961, 31572552, 31620784, 31682240, 31703632, 31709191		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	21067377, 21518476, 22160010, 22744846, 22898539, 22898540, 22898541, 24606448, 24656771, 26619011		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	21828135, 24497509, 26071459, 27733013, 28102729, 29227812, 29731877		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	22431509		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	20951977		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11230735, 12605361, 15885882, 17549390, 19139273, 19732323, 23124077, 26986232, 29724530, 31303764, 31479523		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11230735, 17549390		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37268177	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17140695, 23284304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	17890317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17890317, 37121213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	26192916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus	Lupus Erythematosus	BEFREE	23054340		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18194272, 21976679, 27904655, 29074164, 29177435, 35176141, 36536372	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23054340	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28349196	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	23054340		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21595664, 23054340, 24716599, 27904655, 28190128, 28349196, 29074164, 29177435		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	23054340		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25550796	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	29843647, 33961341	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24413737, 27134162, 28901428		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25326804, 28901428, 31436356, 34751409, 35533245, 35593442, 38429084	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	BEFREE	16322236		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	30554804		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	31685998		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29056068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	22520950		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24218337, 24375250, 24464625, 25358520, 25684141, 28252641, 28393842, 30324719, 31266372, 31327173, 31660998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30614867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31303764, 31843451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17890317, 22733537, 23031157, 23284304, 25210796, 28123563, 28425913, 31695416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23666104, 27748882, 29993160, 30365936		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22110720, 31372043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23254386, 28394356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20128888, 22942708, 23053986, 24289567, 25874772, 26350239, 26823816, 27498672, 28718369, 29717263, 29956566, 30376837		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	23959088		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30252567		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25284287		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11531283, 19139273, 21887463, 22066015, 22733537, 22956508, 23015417, 23031157, 23053986, 23284304, 23517596, 24514424, 25693834, 25966133, 26203494, 26548627, 27016502, 27278882, 27300438, 28003281, 28386358, 28393842, 28555413, 28872462, 29324392, 29518238, 29717263, 29740169, 31160375, 31519707, 31582562, 31620784, 31754130, 31802101		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	23959088		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26191165, 28459195, 31661141		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	22520950		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	22520950		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29574992		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	22520950		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	34644003	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	22905207	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	22905207, 31151985	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27543768, 31066180		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	27543768	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21081840, 29750576, 31217906		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	21081840, 28186096, 37160317, 39456832	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningomyelocele	Meningomyelocele	BEFREE	26250961		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	24614070		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19233506, 34008015	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33582159	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	30478443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	CTD_human_DG	30478443		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	26111027, 27092400		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	34644003	Associate	★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	27208809		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10325416, 10433969, 10555141, 10647011, 11399089, 12138111, 12359337, 12575993, 1423634, 15063176, 15672446, 15739230, 16357870, 16501171, 16725135, 17445268, 17878930, 19344873, 19854944, 20228804, 20651149, 20729844, 21067377, 21507354, 21844811, 22495306, 23849776, 24614070, 26866722, 2717398, 27701732, 27991732, 28386848, 28475857, 28667884, 28941052		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	31171909	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10325416, 10433969, 10555141, 10647011, 11399089, 12138111, 12359337, 12575993, 1423634, 15063176, 15672446, 15739230, 16357870, 16501171, 16725135, 17445268, 17878930, 19344873, 19854944, 20228804, 20651149, 20729844, 21067377, 21507354, 21844811, 22495306, 23849776, 24614070, 26866722, 2717398, 27701732, 27991732, 28386848, 28475857, 28667884, 28941052		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23408834, 35173353	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	27559096		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	27559096	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple sclerosis	Pubtator	34561436	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33004909	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	27999265	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	29718870		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24903747, 29285580		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18829110, 21415852, 21880636, 22066015, 23394086, 23645565, 23660859, 24512939, 24723457, 24903747, 24914952, 25092778, 25645650, 27121470, 29031013, 29172276, 29285580, 31482762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	21415852, 21880636, 21979949, 22066015, 22308499, 23831921, 24115220, 24220272, 24723457, 24914952, 25092778, 27419369, 27527853, 28255022, 28875545, 29618722, 29619119, 30861111, 31964915, 32431489, 32476595, 33086776, 33609081, 33730109, 34125889, 34529785, 34587721, 34880109, 35013795, 35901322, 36109871, 36436542, 36588411, 37558665	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelofibrosis	Myelofibrosis	BEFREE	29285580, 30366920		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	27300438		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24350829, 28667884		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	24895580, 24914952, 27016502		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30861111		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30861111	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	31811564	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10773079, 12594811, 16131836, 17408664, 19211935, 21081840, 22419067, 22733537, 22749068, 22956508, 23284304, 24350829, 24732595, 24837369, 25210796, 25550796, 25625222, 26133168, 26471361, 27134162, 27623253, 28872462, 28972040, 29956566, 30002361, 30222780, 30365936, 31435645, 31614132, 31624251, 31754130, 31843451		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23042785		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	28255022	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36361596	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	29555977		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17890317, 23939044, 28423585, 28972040		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33004909, 34139469, 39743445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	36399874	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31030726		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	28262826, 28345813, 35288246	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30385847	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30385847	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31430471, 33004909	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35909477	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23666104, 27748882, 29993160, 30365936		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18381459, 22768205, 23666104, 28179359, 28743276, 28978469, 29558748, 33273524, 35770296	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22110720, 31372043		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29115606, 31372043		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22110720, 34471186	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25378232, 31280122		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	29740169		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	29740169	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	39476105	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	36680616	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35504600	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	24413734, 24413737		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30829413		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	36835370	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	29740169	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	30002361		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	30002361	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	38244120	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	27447873, 32066200	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	BEFREE	30366920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	23031157		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23031157		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23341344, 28321121, 28905428, 30635552		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29285580, 30366920		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	24614070		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23254386, 28394356		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16173030		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21521786, 21990314, 34728570, 36095024, 37900138	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	31685998	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35581740	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35805204	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	27771989		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12594811		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29728415		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	25476906		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20959668		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34128847, 34831178	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	34831178	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	36731460	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31685998		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	31685998	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG	29900417		★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Seckel syndrome	Pubtator	31685998	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	21415852, 21993668		★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	31426844	Associate	★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	30478443		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26551667, 27121473	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	34671345	Associate	★☆☆☆☆ Found in Text Mining only
Sotos Syndrome	Sotos syndrome	Pubtator	31160375	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12738984		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20951977, 24394434, 27623253, 28303350		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28343076		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20951977	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11496321, 20128888, 22942708, 23053986, 24289567, 25874772, 26350239, 26823816, 27498672, 28718369, 29717263, 29956566, 30376837, 31220652		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18253830		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20128888, 22942708, 24667323, 25009393, 25874772, 26350239, 26823816, 28718369, 28829505, 30376837, 37477089	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34507355	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	29629950		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	12594811		★☆☆☆☆ Found in Text Mining only
Tatton Brown Rahman syndrome	Tatton Brown Rahman Syndrome	CLINVAR_DG	24614070		★☆☆☆☆ Found in Text Mining only
Tatton Brown Rahman syndrome	Tatton Brown Rahman Syndrome	ORPHANET_DG	24614070, 27701732		★☆☆☆☆ Found in Text Mining only
Tatton Brown Rahman syndrome	Tatton Brown Rahman Syndrome	UNIPROT_DG	24614070, 27317772, 27701732		★☆☆☆☆ Found in Text Mining only
Tatton Brown Rahman syndrome	Tatton Brown Rahman Syndrome	BEFREE	26866722, 27701732, 27991732, 28449304, 28941052, 31066180, 31485078, 31685998		★☆☆☆☆ Found in Text Mining only
Tatton Brown Rahman syndrome	Tatton Brown Rahman Syndrome	GENOMICS_ENGLAND_DG	29900417		★☆☆☆☆ Found in Text Mining only
Tatton Brown Rahman syndrome	Tatton Brown Rahman Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Tatton-Brown-Rahman syndrome	Tatton Brown Rahman Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	17548962		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	17548962, 23959088	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	23959088	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	37160316	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	35733370	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	30861111	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	25482724		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25482724		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36098040	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30252567		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30252567		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	30252567	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	27237591	Associate	★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	28323001		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30324719		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30324719, 37885030, 40427627	Associate	★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	31018948	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	37847338	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	31812712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25126948		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21674242, 26191165, 31661141	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28459195	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12821352, 19218588		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	31345433		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	11713352	Associate	★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver syndrome	Pubtator	31685998	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	28386848		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	23042785, 34053991	Associate	★☆☆☆☆ Found in Text Mining only