NOTCH1 (notch receptor 1)

Gene

• Entrez ID: 4851
• Gene name: Notch receptor 1
• Gene symbol: NOTCH1
• Synonyms (NCBI Gene): AOS5, AOVD1, TAN1, hN1
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41309764	G>A	Pathogenic	Stop gained, coding sequence variant
rs41309766	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs61755997	G>A	Pathogenic, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs182330532	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199793164	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200462746	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201215245	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201620358	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369070550	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377217445	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Synonymous variant, coding sequence variant
rs515726231	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs515726232	C>T	Likely-pathogenic	Splice donor variant
rs515726233	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs545088400	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs554142958	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs568700183	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs587777734	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777736	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587778569	C>A,T	Uncertain-significance, not-provided, pathogenic	Stop gained, missense variant, coding sequence variant
rs587781259	C>T	Pathogenic	Missense variant, coding sequence variant
rs746342893	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs754529382	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs756434709	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs761562076	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs762077987	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs771590616	C>T	Uncertain-significance, pathogenic	Intron variant
rs774966208	C>G,T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs780710009	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205599	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs786205600	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796065341	A>C	Pathogenic	Coding sequence variant, missense variant
rs863224901	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs864622056	C>T	Pathogenic	Coding sequence variant, missense variant
rs864622057	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs864622058	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs864622059	->T	Pathogenic	Coding sequence variant, stop gained
rs864622060	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs864622061	->A	Pathogenic	Coding sequence variant, frameshift variant
rs864622063	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025494	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1057515422	G>A,C	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs1057515423	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057518096	GTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1057518661	G>C	Pathogenic	Coding sequence variant, stop gained
rs1057521857	T>G	Likely-pathogenic	Splice acceptor variant
rs1057523819	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795070	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795976	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796867	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1290954710	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1348892740	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1448345366	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554727954	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554728034	ACGAGCGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554728424	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554728428	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554728529	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554728658	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554729113	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1554729118	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554729443	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554730670	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554730758	T>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554826736	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554826746	G>A	Pathogenic	Coding sequence variant, stop gained
rs1564191302	G>T	Pathogenic	Coding sequence variant, stop gained
rs1564199476	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589058964	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589064285	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1589066272	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1589072024	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002875	hsa-miR-34a-5p	Review, Microarray	19461653
MIRT002875	hsa-miR-34a-5p	Review, Microarray	19461653
MIRT004424	hsa-miR-326	Western blot, Luciferase reporter assay	19955368
MIRT004424	hsa-miR-326	Western blot, Luciferase reporter assay	19955368
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20351093
MIRT002876	hsa-miR-30a-5p	Luciferase reporter assay, Microarray	17150773
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, Microarray	17150773
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, Microarray	17150773
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	19773441
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	19773441
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay	14697198
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay	21285251
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT002875	hsa-miR-34a-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22363487
MIRT006446	hsa-miR-449a	ChIP-seq, Luciferase reporter assay	21569010
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT002875	hsa-miR-34a-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22363487
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT002875	hsa-miR-34a-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22363487
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	22684561
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	22684561
MIRT006924	hsa-miR-10b-5p	Luciferase reporter assay	23034333
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay	23085450
MIRT002875	hsa-miR-34a-5p	Western blot	23226240
MIRT002875	hsa-miR-34a-5p	Western blot	23226240
MIRT001768	hsa-miR-27b-3p	Reporter assay	17150773
MIRT001775	hsa-miR-23b-3p	Reporter assay	17150773
MIRT001773	hsa-miR-24-3p	Reporter assay	15131085
MIRT035538	hsa-miR-181a-5p	Luciferase reporter assay	22916024
MIRT035538	hsa-miR-181a-5p	Luciferase reporter assay	22916024
MIRT035538	hsa-miR-181a-5p	Western blot	22916024
MIRT035538	hsa-miR-181a-5p	Western blot	22916024
MIRT035538	hsa-miR-181a-5p	Western blot	22916024
MIRT001768	hsa-miR-27b-3p	CLASH	23622248
MIRT001768	hsa-miR-27b-3p	CLASH	23622248
0	hsa-miR-34a-5p	qRT-PCR, Western blot	23145211
MIRT006446	hsa-miR-449a	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23226395
MIRT002875	hsa-miR-34a-5p	Microarray, Western blot	22438124
MIRT002875	hsa-miR-34a-5p	qRT-PCR, Western blot	23035210
MIRT002876	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT002876	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT054706	hsa-miR-30b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT054706	hsa-miR-30b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437489	hsa-miR-30c-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437489	hsa-miR-30c-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437490	hsa-miR-30d-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437490	hsa-miR-30d-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437491	hsa-miR-30e-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437491	hsa-miR-30e-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT002875	hsa-miR-34a-5p	qRT-PCR, Western blot	23430952
MIRT437862	hsa-miR-200b-3p	qRT-PCR, Western blot	23430952
MIRT437489	hsa-miR-30c-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23974200
MIRT438061	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT437862	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT437489	hsa-miR-30c-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23974200
MIRT438061	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT437862	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT655833	hsa-miR-1277-3p	HITS-CLIP	23824327
MIRT655832	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT655831	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT655830	hsa-miR-6761-3p	HITS-CLIP	23824327
MIRT655829	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT655828	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT655827	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT655826	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT655825	hsa-miR-5695	HITS-CLIP	23824327
MIRT655824	hsa-miR-623	HITS-CLIP	23824327
MIRT655823	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655822	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655821	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT655820	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT655819	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655818	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	28145431
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	28145431
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT732119	hsa-miR-363-3p	Luciferase reporter assay, qRT-PCR, Western blot	26709677
MIRT732119	hsa-miR-363-3p	Luciferase reporter assay, qRT-PCR, Western blot	26709677
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	27738333
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	27738333
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	26299922
MIRT438061	hsa-miR-200c-3p	Immunofluorescence, Western blot	26400206
MIRT002875	hsa-miR-34a-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	28129650
MIRT002875	hsa-miR-34a-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	28129650
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT733159	hsa-miR-608	Luciferase reporter assay, qRT-PCR, Western blotting	32494206
MIRT005869	hsa-miR-144-3p	Microarray, Western blotting	33917330
MIRT733728	hsa-miR-106a-3p	Microarray, Western blotting	33917330
MIRT733729	hsa-miR-30d-3p	Microarray, Western blotting	33917330
MIRT002875	hsa-miR-34a-5p	qRT-PCR, Western blotting	33740991
MIRT733873	hsa-miR-2682-3p	qRT-PCR	33740841
MIRT733901	hsa-miR-145-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32588730
MIRT734380	hsa-miR-155-5p	qRT-PCR	32507875
MIRT734503	hsa-miR-34a-3p	qRT-PCR	31775690
MIRT734742	hsa-miR-455-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, Flow cytometry, Immunocytochemistry (ICC)	33643896
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32913469
MIRT736291	hsa-miR-145-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	32104249
MIRT736830	hsa-miR-137	Western blotting, RNA-seq, qRT-PCR	33461167
MIRT006446	hsa-miR-449a	Luciferase reporter assay, qRT-PCR	32402942
MIRT006446	hsa-miR-449a	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	31853185
MIRT655833	hsa-miR-1277-3p	HITS-CLIP	23824327
MIRT655832	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT655831	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT655830	hsa-miR-6761-3p	HITS-CLIP	23824327
MIRT655829	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT655828	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT655827	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT655826	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT655825	hsa-miR-5695	HITS-CLIP	23824327
MIRT655824	hsa-miR-623	HITS-CLIP	23824327
MIRT655823	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655822	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655821	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT655820	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT655819	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655818	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT1189592	hsa-miR-1264	CLIP-seq
MIRT1189593	hsa-miR-1302	CLIP-seq
MIRT1189594	hsa-miR-183	CLIP-seq
MIRT1189595	hsa-miR-2355-5p	CLIP-seq
MIRT1189596	hsa-miR-25	CLIP-seq
MIRT1189597	hsa-miR-2682	CLIP-seq
MIRT1189598	hsa-miR-30a	CLIP-seq
MIRT1189599	hsa-miR-30b	CLIP-seq
MIRT1189600	hsa-miR-30c	CLIP-seq
MIRT1189601	hsa-miR-30d	CLIP-seq
MIRT1189602	hsa-miR-30e	CLIP-seq
MIRT1189603	hsa-miR-3122	CLIP-seq
MIRT1189604	hsa-miR-3124-3p	CLIP-seq
MIRT1189605	hsa-miR-3163	CLIP-seq
MIRT1189606	hsa-miR-32	CLIP-seq
MIRT1189607	hsa-miR-331-3p	CLIP-seq
MIRT1189608	hsa-miR-340	CLIP-seq
MIRT1189609	hsa-miR-34a	CLIP-seq
MIRT1189610	hsa-miR-3607-3p	CLIP-seq
MIRT1189611	hsa-miR-363	CLIP-seq
MIRT1189612	hsa-miR-3668	CLIP-seq
MIRT1189613	hsa-miR-367	CLIP-seq
MIRT1189614	hsa-miR-3679-3p	CLIP-seq
MIRT1189615	hsa-miR-3686	CLIP-seq
MIRT1189616	hsa-miR-3913-5p	CLIP-seq
MIRT1189617	hsa-miR-3929	CLIP-seq
MIRT1189618	hsa-miR-3935	CLIP-seq
MIRT1189619	hsa-miR-3944-5p	CLIP-seq
MIRT1189620	hsa-miR-4292	CLIP-seq
MIRT1189621	hsa-miR-4298	CLIP-seq
MIRT1189622	hsa-miR-4313	CLIP-seq
MIRT1189623	hsa-miR-4419b	CLIP-seq
MIRT1189624	hsa-miR-4450	CLIP-seq
MIRT1189625	hsa-miR-4478	CLIP-seq
MIRT1189626	hsa-miR-449b	CLIP-seq
MIRT1189627	hsa-miR-449c	CLIP-seq
MIRT1189628	hsa-miR-4514	CLIP-seq
MIRT1189629	hsa-miR-4645-5p	CLIP-seq
MIRT1189630	hsa-miR-4652-3p	CLIP-seq
MIRT1189631	hsa-miR-4667-5p	CLIP-seq
MIRT1189632	hsa-miR-4673	CLIP-seq
MIRT1189633	hsa-miR-4690-3p	CLIP-seq
MIRT1189634	hsa-miR-4692	CLIP-seq
MIRT1189635	hsa-miR-4700-3p	CLIP-seq
MIRT1189636	hsa-miR-4700-5p	CLIP-seq
MIRT1189637	hsa-miR-4711-3p	CLIP-seq
MIRT1189638	hsa-miR-4731-5p	CLIP-seq
MIRT1189639	hsa-miR-511	CLIP-seq
MIRT1189640	hsa-miR-518a-5p	CLIP-seq
MIRT1189641	hsa-miR-527	CLIP-seq
MIRT1189642	hsa-miR-548c-3p	CLIP-seq
MIRT1189643	hsa-miR-635	CLIP-seq
MIRT1189644	hsa-miR-92a	CLIP-seq
MIRT1189645	hsa-miR-92b	CLIP-seq
MIRT1189596	hsa-miR-25	CLIP-seq
MIRT1189606	hsa-miR-32	CLIP-seq
MIRT1189611	hsa-miR-363	CLIP-seq
MIRT1189613	hsa-miR-367	CLIP-seq
MIRT1189640	hsa-miR-518a-5p	CLIP-seq
MIRT1189641	hsa-miR-527	CLIP-seq
MIRT1189644	hsa-miR-92a	CLIP-seq
MIRT1189645	hsa-miR-92b	CLIP-seq
MIRT2054840	hsa-miR-1245b-3p	CLIP-seq
MIRT1189592	hsa-miR-1264	CLIP-seq
MIRT2054841	hsa-miR-1468	CLIP-seq
MIRT2054842	hsa-miR-150	CLIP-seq
MIRT1189595	hsa-miR-2355-5p	CLIP-seq
MIRT1189596	hsa-miR-25	CLIP-seq
MIRT1189598	hsa-miR-30a	CLIP-seq
MIRT1189599	hsa-miR-30b	CLIP-seq
MIRT1189600	hsa-miR-30c	CLIP-seq
MIRT1189601	hsa-miR-30d	CLIP-seq
MIRT1189602	hsa-miR-30e	CLIP-seq
MIRT2054843	hsa-miR-31	CLIP-seq
MIRT2054844	hsa-miR-3152-5p	CLIP-seq
MIRT1189605	hsa-miR-3163	CLIP-seq
MIRT1189606	hsa-miR-32	CLIP-seq
MIRT2054845	hsa-miR-337-3p	CLIP-seq
MIRT1189608	hsa-miR-340	CLIP-seq
MIRT1189610	hsa-miR-3607-3p	CLIP-seq
MIRT2054846	hsa-miR-3614-5p	CLIP-seq
MIRT1189611	hsa-miR-363	CLIP-seq
MIRT2054847	hsa-miR-3663-5p	CLIP-seq
MIRT1189613	hsa-miR-367	CLIP-seq
MIRT2054848	hsa-miR-3685	CLIP-seq
MIRT1189615	hsa-miR-3686	CLIP-seq
MIRT2054849	hsa-miR-384	CLIP-seq
MIRT2054850	hsa-miR-3942-3p	CLIP-seq
MIRT2054851	hsa-miR-4268	CLIP-seq
MIRT2054852	hsa-miR-4448	CLIP-seq
MIRT1189630	hsa-miR-4652-3p	CLIP-seq
MIRT2054853	hsa-miR-4686	CLIP-seq
MIRT1189638	hsa-miR-4731-5p	CLIP-seq
MIRT2054854	hsa-miR-4774-3p	CLIP-seq
MIRT2054855	hsa-miR-4792	CLIP-seq
MIRT1189640	hsa-miR-518a-5p	CLIP-seq
MIRT1189641	hsa-miR-527	CLIP-seq
MIRT2054856	hsa-miR-548ac	CLIP-seq
MIRT2054857	hsa-miR-548ae	CLIP-seq
MIRT2054858	hsa-miR-548aj	CLIP-seq
MIRT2054859	hsa-miR-548am	CLIP-seq
MIRT1189642	hsa-miR-548c-3p	CLIP-seq
MIRT2054860	hsa-miR-548d-3p	CLIP-seq
MIRT2054861	hsa-miR-548x	CLIP-seq
MIRT2054862	hsa-miR-548z	CLIP-seq
MIRT2054863	hsa-miR-568	CLIP-seq
MIRT2054864	hsa-miR-767-3p	CLIP-seq
MIRT1189644	hsa-miR-92a	CLIP-seq
MIRT1189645	hsa-miR-92b	CLIP-seq
MIRT2283926	hsa-miR-1263	CLIP-seq
MIRT1189592	hsa-miR-1264	CLIP-seq
MIRT1189597	hsa-miR-2682	CLIP-seq
MIRT1189605	hsa-miR-3163	CLIP-seq
MIRT1189608	hsa-miR-340	CLIP-seq
MIRT1189609	hsa-miR-34a	CLIP-seq
MIRT2283927	hsa-miR-3622b-5p	CLIP-seq
MIRT2283928	hsa-miR-3714	CLIP-seq
MIRT2283929	hsa-miR-425	CLIP-seq
MIRT2283930	hsa-miR-433	CLIP-seq
MIRT1189626	hsa-miR-449b	CLIP-seq
MIRT1189627	hsa-miR-449c	CLIP-seq
MIRT1189630	hsa-miR-4652-3p	CLIP-seq
MIRT2283931	hsa-miR-4720-5p	CLIP-seq
MIRT2283932	hsa-miR-4727-5p	CLIP-seq
MIRT2283933	hsa-miR-4769-3p	CLIP-seq
MIRT2283934	hsa-miR-4799-3p	CLIP-seq
MIRT2283935	hsa-miR-494	CLIP-seq
MIRT2283936	hsa-miR-509-3p	CLIP-seq
MIRT2283937	hsa-miR-544	CLIP-seq
MIRT2283938	hsa-miR-548an	CLIP-seq
MIRT1189642	hsa-miR-548c-3p	CLIP-seq
MIRT2283939	hsa-miR-577	CLIP-seq
MIRT2283940	hsa-miR-642b	CLIP-seq
MIRT2283941	hsa-miR-664	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF5	Activation	21868761
SIRT1	Repression	23028940

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17984306
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IEA
GO:0001554	Process	Luteolysis	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IMP	17984306
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001889	Process	Liver development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002085	Process	Inhibition of neuroepithelial cell differentiation	IEA
GO:0002193	Component	MAML1-RBP-Jkappa- ICN1 complex	IDA	16510869
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0003151	Process	Outflow tract morphogenesis	IMP	18593716
GO:0003157	Process	Endocardium development	IEA
GO:0003157	Process	Endocardium development	ISS
GO:0003160	Process	Endocardium morphogenesis	IEA
GO:0003160	Process	Endocardium morphogenesis	ISS
GO:0003162	Process	Atrioventricular node development	IEA
GO:0003169	Process	Coronary vein morphogenesis	IEA
GO:0003169	Process	Coronary vein morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	IMP	16025100, 17662764, 18593716
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	TAS	20951801
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003182	Process	Coronary sinus valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	16025100
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003192	Process	Mitral valve formation	IMP	16025100
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003207	Process	Cardiac chamber formation	IEA
GO:0003207	Process	Cardiac chamber formation	ISS
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	ISS
GO:0003213	Process	Cardiac right atrium morphogenesis	IEA
GO:0003213	Process	Cardiac right atrium morphogenesis	ISS
GO:0003214	Process	Cardiac left ventricle morphogenesis	IEA
GO:0003214	Process	Cardiac left ventricle morphogenesis	ISS
GO:0003219	Process	Cardiac right ventricle formation	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003241	Process	Growth involved in heart morphogenesis	IEA
GO:0003241	Process	Growth involved in heart morphogenesis	ISS
GO:0003252	Process	Negative regulation of cell proliferation involved in heart valve morphogenesis	IEA
GO:0003252	Process	Negative regulation of cell proliferation involved in heart valve morphogenesis	ISS
GO:0003264	Process	Regulation of cardioblast proliferation	IEA
GO:0003270	Process	Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA
GO:0003273	Process	Cell migration involved in endocardial cushion formation	IEA
GO:0003273	Process	Cell migration involved in endocardial cushion formation	ISS
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	IEA
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	ISS
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	18239137, 23839946
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0004857	Function	Enzyme inhibitor activity	IEA
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	23839946
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005112	Function	Notch binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10713164, 11006133, 11101851, 11390662, 12370315, 16319921, 16510869, 16530044, 17284587, 17318174, 17909182, 18427106, 18660822, 19151708, 19907488, 20823234, 20972443, 21475249, 22325781, 23022380, 23086448, 23839946, 25038227, 25344755, 25609649, 25714926, 25895060, 26496610, 272
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	10713164
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10713164
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006955	Process	Immune response	NAS	1831692
GO:0006959	Process	Humoral immune response	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IDA	11306509, 23839946
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IMP	16025100, 17662764, 19682396
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	TAS	10713164
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IEA
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IEA
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007386	Process	Compartment pattern specification	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007440	Process	Foregut morphogenesis	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007507	Process	Heart development	IMP	21457232
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17849174
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20613903
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	20616313
GO:0008544	Process	Epidermis development	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0009912	Process	Auditory receptor cell fate commitment	IEA
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	11306509
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IDA	16501043
GO:0010832	Process	Negative regulation of myotube differentiation	IEA
GO:0014031	Process	Mesenchymal cell development	IEA
GO:0014031	Process	Mesenchymal cell development	ISS
GO:0014807	Process	Regulation of somitogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017156	Process	Calcium-ion regulated exocytosis	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	ISS
GO:0021515	Process	Cell differentiation in spinal cord	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030279	Process	Negative regulation of ossification	IEA
GO:0030279	Process	Negative regulation of ossification	ISS
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035148	Process	Tube formation	IMP	20616313
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IDA	20616313
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042246	Process	Tissue regeneration	IEA
GO:0042670	Process	Retinal cone cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	16738328
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043086	Process	Negative regulation of catalytic activity	ISS
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045070	Process	Positive regulation of viral genome replication	IEA
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045607	Process	Regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045608	Process	Negative regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IMP	10713164
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0045687	Process	Positive regulation of glial cell differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18239137, 20616313, 23839946
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045955	Process	Negative regulation of calcium ion-dependent exocytosis	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	IEA
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	11306509
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	ISS
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IDA	18239137
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	ISS
GO:0060271	Process	Cilium assembly	ISS
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	ISS
GO:0060354	Process	Negative regulation of cell adhesion molecule production	IMP	17984306
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	ISS
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IMP	16025100
GO:0060528	Process	Secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	IEA
GO:0060740	Process	Prostate gland epithelium morphogenesis	IEA
GO:0060768	Process	Regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060842	Process	Arterial endothelial cell differentiation	IEA
GO:0060842	Process	Arterial endothelial cell differentiation	ISS
GO:0060843	Process	Venous endothelial cell differentiation	IEA
GO:0060843	Process	Venous endothelial cell differentiation	ISS
GO:0060948	Process	Cardiac vascular smooth muscle cell development	IEA
GO:0060948	Process	Cardiac vascular smooth muscle cell development	ISS
GO:0060956	Process	Endocardial cell differentiation	IEA
GO:0060956	Process	Endocardial cell differentiation	ISS
GO:0060979	Process	Vasculogenesis involved in coronary vascular morphogenesis	IEA
GO:0060979	Process	Vasculogenesis involved in coronary vascular morphogenesis	ISS
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061344	Process	Regulation of cell adhesion involved in heart morphogenesis	IEA
GO:0061384	Process	Heart trabecula morphogenesis	IEA
GO:0061384	Process	Heart trabecula morphogenesis	ISS
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0070168	Process	Negative regulation of biomineral tissue development	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11306509
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0071228	Process	Cellular response to tumor cell	IDA	11306509
GO:0071228	Process	Cellular response to tumor cell	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IDA	20613903
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0071944	Component	Cell periphery	IEA
GO:0072017	Process	Distal tubule development	IEA
GO:0072044	Process	Collecting duct development	IEA
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:0072144	Process	Glomerular mesangial cell development	IEA
GO:0072148	Process	Epithelial cell fate commitment	IEA
GO:0072538	Process	T-helper 17 type immune response	IEA
GO:0090051	Process	Negative regulation of cell migration involved in sprouting angiogenesis	IDA	20616313
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:0097400	Process	Interleukin-17-mediated signaling pathway	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099565	Process	Chemical synaptic transmission, postsynaptic	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	25038826
GO:0140537	Function	Transcription regulator activator activity	IEA
GO:1901201	Process	Regulation of extracellular matrix assembly	IEA
GO:1901201	Process	Regulation of extracellular matrix assembly	ISS
GO:1902263	Process	Apoptotic process involved in embryonic digit morphogenesis	IEA
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	IEA
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	ISS
GO:1903849	Process	Positive regulation of aorta morphogenesis	IEA
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IMP	17984306
GO:2000737	Process	Negative regulation of stem cell differentiation	IMP	19682396
GO:2000811	Process	Negative regulation of anoikis	IMP	17984306
GO:2000974	Process	Negative regulation of pro-B cell differentiation	IEA
GO:2000974	Process	Negative regulation of pro-B cell differentiation	ISS
GO:2001027	Process	Negative regulation of endothelial cell chemotaxis	IDA	20616313

Other IDs

• MIM: 190198
• HGNC: 7881
• e!Ensembl: ENSG00000148400

Protein

• UniProt ID: P46531
• Protein name: Neurogenic locus notch homolog protein 1 (Notch 1) (hN1) (Translocation-associated notch protein TAN-1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
• Protein function: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional
• PDB: 1PB5, 1TOZ, 1YYH, 2F8X, 2F8Y, 2HE0, 2VJ3, 3ETO, 3I08, 3L95, 3NBN, 3V79, 4CUD, 4CUE, 4CUF, 4D0E, 4D0F, 5FM9, 5FMA, 5KZO, 5L0R, 5UB5, 6IDF, 6PY8, 8OR5, 8ORY, 8ORZ, 9B3G, 9B3N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	63 → 97	EGF-like domain	Domain
  PF00008	EGF	106 → 137	EGF-like domain	Domain
  PF00008	EGF	144 → 174	EGF-like domain	Domain
  PF07645	EGF_CA	178 → 219	Calcium-binding EGF domain	Domain
  PF00008	EGF	222 → 253	EGF-like domain	Domain
  PF00008	EGF	261 → 291	EGF-like domain	Domain
  PF07645	EGF_CA	295 → 335	Calcium-binding EGF domain	Domain
  PF00008	EGF	339 → 369	EGF-like domain	Domain
  PF07645	EGF_CA	412 → 450	Calcium-binding EGF domain	Domain
  PF00008	EGF	456 → 486	EGF-like domain	Domain
  PF00008	EGF	494 → 524	EGF-like domain	Domain
  PF00008	EGF	532 → 562	EGF-like domain	Domain
  PF00008	EGF	570 → 599	EGF-like domain	Domain
  PF00008	EGF	607 → 637	EGF-like domain	Domain
  PF00008	EGF	645 → 673	EGF-like domain	Domain
  PF00008	EGF	682 → 712	EGF-like domain	Domain
  PF00008	EGF	720 → 749	EGF-like domain	Domain
  PF00008	EGF	757 → 787	EGF-like domain	Domain
  PF00008	EGF	795 → 825	EGF-like domain	Domain
  PF00008	EGF	833 → 865	EGF-like domain	Domain
  PF07645	EGF_CA	869 → 906	Calcium-binding EGF domain	Domain
  PF00008	EGF	911 → 941	EGF-like domain	Domain
  PF12661	hEGF	992 → 1013	Human growth factor-like EGF	Domain
  PF00008	EGF	1025 → 1055	EGF-like domain	Domain
  PF00008	EGF	1063 → 1093	EGF-like domain	Domain
  PF00008	EGF	1111 → 1141	EGF-like domain	Domain
  PF00008	EGF	1149 → 1179	EGF-like domain	Domain
  PF00008	EGF	1187 → 1217	EGF-like domain	Domain
  PF00008	EGF	1225 → 1263	EGF-like domain	Domain
  PF00008	EGF	1311 → 1344	EGF-like domain	Domain
  PF12661	hEGF	1357 → 1375	Human growth factor-like EGF	Domain
  PF00066	Notch	1446 → 1480	LNR domain	Domain
  PF00066	Notch	1487 → 1522	LNR domain	Domain
  PF00066	Notch	1525 → 1562	LNR domain	Domain
  PF06816	NOD	1566 → 1621	NOTCH protein	Family
  PF07684	NODP	1671 → 1729	NOTCH protein	Family
  PF00023	Ank	1880 → 1926	Ankyrin repeat	Repeat
  PF13637	Ank_4	1928 → 1981		Repeat
  PF12796	Ank_2	1970 → 2058	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	1999 → 2092	Ankyrin repeats (3 copies)	Repeat
  PF11936	DUF3454	2479 → 2540	Domain of unknown function (DUF3454)	Family

• Tissue specificity: TISSUE SPECIFICITY: In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.
• Sequence:

  MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDP
  NPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLL
  TLTEYKCRCPPGWSGKSCQQADPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQDVN
  ECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPSPCQNGGTCRPTGDVT
  HECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQ
  LMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCE
  CPHGRTGLLCHLNDACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGA
  NPCEHAGKCINTLGSFECQCLQGYTGPRCEIDVNECVSNPCQNDATCLDQIGEFQCICMP
  GYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLCQYDVDECASTPCKNG
  AKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHC
  ETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKID
  GYECACEPGYTGSMCNINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNEC
  NSNPCVHGACRDSLNGYKCDCDPGWSGTNCDINNNECESNPCVNGGTCKDMTSGYVCTCR
  EGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGATCEVVLAPCAPSPCRN
  GGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYS
  GRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANC
  TDCVDSYTCTCPAGFSGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQH
  DVNECDSQPCLHGGTCQDGCGSYRCTCPQGYTGPNCQNLVHWCDSSPCKNGGKCWQTHTQ
  YRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDAGNTHHCRCQAGYTGS
  YCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLD
  LPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFV
  GERCEGDVNECLSNPCDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGG
  TCAVASNTARGFICKCPAGFEGATCENDARTCGSLRCLNGGTCISGPRSPTCLCLGPFTG
  PECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHILDYSFGGGAGRDI
  PPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYF
  SDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLD
  CAEHVPERLAAGTLVVVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYY
  GREEELRKHPIKRAAEGWAAPDALLGQVKASLLPGGSEGGRRRRELDPMDVRGSIVYLEI
  DNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSETVEPPPPAQLHFMYVA
  AAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNA
  SDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAP
  TPPQGEVDADCMDVNVRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASL
  HNQTDRTGETALHLAARYSRSDAAKRLLEASADANIQDNMGRTPLHAAVSADAQGVFQIL
  IRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVDDLGKSALHWAAAVNN
  VDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDI
  AQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRK
  PSSKGLACGSKEAKDLKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLP
  SPFQQSPSVPLNHLPGMPDTHLGIGHLNVAAKPEMAALGGGGRLAFETGPPRLSHLPVAS
  GTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNPLRGSVAPGPLSTQAP
  SLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPA
  NIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQE
  SPALPTSLPSSLVPPVTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQW
  SSSSPHSNVSDWSEGVSSPPTSMQSQIARIPEAFK

• Sequence length: 2555

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Thyroid hormone signaling pathway
Prion disease
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Breast cancer

Reactome:

Pre-NOTCH Transcription and Translation
Pre-NOTCH Processing in Golgi
NOTCH1 Intracellular Domain Regulates Transcription
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
Defective LFNG causes SCDO3
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription

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
Abnormal cardiovascular system morphology	Pathogenic	rs2540421985	RCV002306280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome	Pathogenic	rs2133337500	RCV001693505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 5	Pathogenic; Likely pathogenic	rs2133339381, rs2133339552, rs2133363840, rs1036363986, rs2133361331, rs2133358321, rs2133372831, rs2133377982, rs1843252720, rs587781259, rs587777735, rs587777736, rs2133345379, rs779058908, rs2133369937, rs376236888, rs2540446470, rs2133370541, rs749786734, rs2540431340, rs864622063, rs864622061, rs746342893, rs864622060, rs864622059, rs864622058, rs864622057, rs864622056, rs869025494, rs1843150542, rs748813647, rs41309764, rs2540459597, rs2133344193, rs1843175014, rs2133350738, rs1293276034, rs2540457665, rs2133337914, rs372767143, rs2540440269, rs2540427371, rs2540437045, rs2133364454, rs2540452961, rs1348892740, rs1554727954, rs587778569, rs1554728424, rs1554729113, rs1554729443, rs1554730184, rs1554730670, rs1554729118, rs1554728428, rs1564199476, rs1564191302, rs1589058964, rs1589072024, rs1589064285, rs1843317673, rs1843055667	RCV001387441 RCV001385022 RCV001388533 RCV001999794 RCV001975775 RCV002020259 RCV001960502 RCV001964937 RCV001913506 RCV000144236 RCV000144234 RCV000144235 RCV005095768 RCV002246189 RCV002269812 RCV002302554 RCV002720845 RCV003043366 RCV003055117 RCV003062025 RCV000206353 RCV000204161 RCV000206255 RCV000205222 RCV000203698 RCV000205841 RCV000205123 RCV000203986 RCV003748207 RCV003326716 RCV003985881 RCV001851821 RCV003586417 RCV003458329 RCV003586552 RCV003586488 RCV003587680 RCV003749474 RCV003749341 RCV003749621 RCV003750146 RCV003750157 RCV003748831 RCV003992084 RCV004555190 RCV005091806 RCV000662252 RCV000662251 RCV000662250 RCV000662248 RCV000662237 RCV000662236 RCV000662235 RCV000655251 RCV000655252 RCV000693336 RCV000685921 RCV000796002 RCV000799106 RCV001224858 RCV001048164 RCV001249662	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic valve disease 1	Likely pathogenic; Pathogenic	rs779058908, rs863224901, rs1057515423, rs1057515422, rs1271941628, rs2540421105, rs748813647, rs41309764, rs41309766, rs757495549, rs2133325416, rs2540421448, rs2540452961, rs1057518661, rs1554826746, rs1843055667, rs1843413593	RCV004782908 RCV000198418 RCV000408649 RCV000408651 RCV003313018 RCV003319954 RCV003326287 RCV000013294 RCV000013295 RCV003387570 RCV003486372 RCV004017200 RCV004555190 RCV000414999 RCV003444001 RCV001249662 RCV001255179	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early T cell progenitor acute lymphoblastic leukemia	Pathogenic	rs796065341	RCV000190416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs587781259, rs2540455872, rs2133370541, rs869025494	RCV005372236 RCV002417368 RCV004068716 RCV000208487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Likely pathogenic	rs515726232, rs515726233, rs515726231, rs1589066272	RCV000128629 RCV000128630 RCV000128631 RCV000853314	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplastic left heart syndrome	Likely pathogenic	rs1843006535, rs1843152606, rs1843262329, rs202235419	RCV001199408 RCV001291514 RCV001291513 RCV001291512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KA-like vemurafenib-induced squamous lesions	Pathogenic	rs2133360646, rs1554826746	RCV001849872 RCV001849412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoacanthoma	Pathogenic	rs1843215220, rs2133346299	RCV001849733 RCV001849784	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1554730670	RCV004669060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOTCH1-related disorder	Pathogenic; Likely pathogenic	rs2540459597, rs764006572, rs2133343317, rs35768530, rs1589063073, rs2540437588, rs2133344193, rs2133333494, rs1554727954, rs2540444114, rs1554826746	RCV004534379 RCV004528606 RCV004531647 RCV004529267 RCV004527984 RCV004528724 RCV005256918 RCV004545911 RCV004544007 RCV004545575 RCV005256652	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Pathogenic	rs774966208	RCV000408653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal vena cava morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormality of connective tissue	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adams-Oliver syndrome 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid cystic carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic tortuosity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic valve disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE, CALCIFICATION OF	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arterial dissection	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign hereditary chorea	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BICUSPID AORTIC VALVE DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesteatoma of middle ear	Conflicting classifications of pathogenicity; other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic adenoiditis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart anomalies	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27M-mutant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, type 3	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BICUSPID AORTIC VALVE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloproliferative neoplasm, unclassifiable	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narrow palate	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis, type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pyloric stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shone complex	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic aortic aneurysm	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	27235670		★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	10227380, 22581828, 30940846		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	12539049, 18184405, 18193087, 18281529, 20730882		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15694671, 16688224, 17329966, 17585052, 19091404, 19631984, 19792972, 19794083, 21479985, 22393458, 23908464, 24122995, 24277457, 25194570, 25942645, 27229929, 27888718, 28245838, 31519704		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	21642962		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15694671, 31849496		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	19846937		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15058751		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	15058751		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	BEFREE	25132448, 25963545, 29392406, 29767458		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	ORPHANET_DG	25132448		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome	Adams-Oliver Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	25132448, 25963545, 26299364, 29392406, 29767458, 31111652		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	25132448		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ADAMS-OLIVER SYNDROME 5	Adams-Oliver Syndrome	CLINVAR_DG	25132448, 25963545, 29924900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 5	Adams-Oliver Syndrome	UNIPROT_DG	25132448		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 5	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	25132448		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenocarcinoma	Adenocarcinoma	BEFREE	11585768, 16136053, 16360140, 16751266, 19405120, 21803744, 24888228, 27334835, 28061457		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16136053		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21145176		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	30323897		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21803744, 22615765, 23632994, 23943799, 24423157, 25004243, 28302721, 28607605, 28618922, 30408569		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	19479935, 27694579		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	25104330, 27084744, 28914715, 29141398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoma	Adenoma	LHGDN	16136053		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21803744, 22863622		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25487926, 30065304		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	28677782		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22496620	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	25979380		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19792972, 21479985, 23908464, 25942645, 28245838		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	21642962		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23295735		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	20660789, 27473087		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19773441, 23852537, 30297829, 30389946, 31063715		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	17483057, 20823234, 27247421, 30206308, 30231940, 30304769, 8642313, 9111040		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	LHGDN	17874453		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23778141, 25104330, 27084744, 27442865, 27870570, 28914715, 29141398, 29858025, 30113656		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	31468527		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	28914715	Associate	★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	10075489, 22156581, 23806616		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30391960, 30951821, 31030096		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22461631, 31770379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ameloblastoma	Ameloblastoma	BEFREE	19008176, 20337864		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	19008176		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20062056		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	30065304		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26067594, 29689424		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26160878, 31440379		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	24178439		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	22991264, 24419754, 27586674, 28004113		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	28699658, 37980558	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	23102684	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	24768363	Inhibit	★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	26434588		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	30480741		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	35551459	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	26045779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23235341, 24899509, 26279302, 27458977, 27639164, 29896227, 30226612		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27959334		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27959334		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	LHGDN	17662764		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	17662764	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	23102684, 26820064, 29093270, 30218064		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	17662764, 26820064, 32720365, 37239988	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23300792	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	23087364, 24358274, 28562688, 30218064, 31142802		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	17662764		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	24418111		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	CTD_human_DG	16025100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic valve calcification	Aortic valve calcification	ORPHANET_DG	16025100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic valve calcification	Aortic valve calcification	BEFREE	16601454, 23102684, 25768904, 28246602, 31393559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic valve calcification	Aortic valve calcification	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Calcification of	Aortic valve disease	Pubtator	23798201, 25768904, 25957898, 28246602	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	25871831, 32375772	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease 1	Aortic valve calcification	CLINVAR_DG	16025100, 27760138		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Valve Disease 1	Aortic valve calcification	GENOMICS_ENGLAND_DG	16025100, 16729972, 25132448, 26820064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Valve Disease 1	Aortic valve calcification	ORPHANET_DG	16025100		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Valve Disease 1	Aortic valve calcification	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic valve disorder	Aortic Valve Disease	BEFREE	16025100, 16601454, 18410944, 23583836, 25871831, 27789555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic valve disorder	Aortic Valve Disease	ORPHANET_DG	16025100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	31393559		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	23102684, 23798201, 28246602, 32375772, 32720365	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28246602		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23778141, 25104330, 27084744, 27442865, 27870570, 28914715, 29141398, 29858025, 30113656		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	34328347	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25871831, 26552708, 27697639, 29158473, 31002155		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30279738		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	23161900	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11465706, 22275240, 23161900, 37796367, 38272919	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29342458, 30021811		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30021811, 38346176, 39643224	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19424825, 37667984	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	19771395, 23349727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	21625236, 27602765	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25871831, 26552708, 27697639, 29158473, 31002155		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25871831, 35388333	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	39354406	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32375772	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	26971121		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36320054	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26999814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	26999814		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23359069, 25412322, 28487945, 29845231, 30808828		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	22006338		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25558829		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25558829	Inhibit	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29785394	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	ORPHANET_DG	16025100		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	16729972, 17662764, 17716607, 21633169, 22641149, 23102684, 23578328, 24418111, 25260786, 26708639, 27583373, 28157139, 29093270, 29162281, 29653750, 30059548, 30218064, 30621852, 31330235, 31363123		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bicuspid aortic valve	Bicuspid aortic valve	CTD_human_DG	30455415		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	17662764, 23578328, 23798201, 25260786, 26876948, 30059548, 30218064, 31363123, 32720365, 32748548, 34461831, 36908813, 37239988	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct carcinoma	Bile duct carcinoma	BEFREE	30384995		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	26937142	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21931375, 29344648		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	29344648, 36257294	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25109409, 25955824, 26769750, 29242529, 29643502, 30426533		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	24394305	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37968650	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	25203324		★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	18192969	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15520184, 15781650, 17652007, 22249262, 23852537, 28157712		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19424825, 28157712, 31480400, 31483290, 33004830	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15192074, 15492845, 16166334, 16751266, 17534448, 17984306, 18184405, 18469855, 19025652, 19219656, 19784073, 19838210, 20204271, 20459529, 20950370, 21573501, 21665937, 21679465, 21785827, 22002679, 22151989, 23012411, 23085450, 23500524, 24140425, 24516139, 24970818, 25120811, 25263445, 25287362, 25368020, 25400232, 25538079, 25544568, 25645291, 25963903, 26033683, 26121683, 26235741, 26299922, 26323259, 26945854, 26971121, 27345400, 27651315, 27753148, 27916718, 28108315, 28709865, 28823832, 29207146, 29431182, 29662198, 29743588, 29895705, 29956731, 30764900, 31132353, 31357442, 31527799		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17534448, 17984306, 19025652, 19151708, 19784073, 20030805, 21679465, 22302350, 22424054, 24760075, 25120811, 25287362, 25400232, 25420528, 25645291, 25645984, 25783790, 26033683, 26235741, 26323259, 26362310, 27651315, 27806347, 28423483, 28823832, 29328395, 29431182, 29662198, 29743588, 30710426, 30809937, 31527799, 31704974, 33750924, 34068438, 34257585, 35508987, 35599381, 35655918, 35971249, 36011273, 36194598, 36795754	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25167871	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10627560		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	10627560	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	21504125, 23028706	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	10075489, 22306179		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	25871831, 34954251	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	11964309, 12208848, 18633435, 19151708, 20053782, 22938409, 23235341, 24801890, 25420528, 26469969, 26847059, 31760940, 34551776, 35435367, 36147467, 38281745, 9111040	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21398698	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	16160079, 21367373, 29327707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12539049, 17948123, 18192969, 19795205, 22922832, 24516139, 28238683, 31265994		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22006338	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	23778141, 24238845, 28820917, 28914715, 29141398, 30926674, 32025208, 32386517, 33469672, 33675181, 34798653, 36879115, 37660928, 39230995	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	18192969, 19025652	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25120811, 25645984	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	25120811, 27050973	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	15361705	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19376776, 22511905, 23179396, 23468978, 24024180, 25337219, 26011160, 26361419, 27821177, 27831648, 28423575, 28507277, 28974890, 29048612, 30297396, 31477177, 32393195, 36147467, 36951273, 37004088, 39954561	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	18192969	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	25120811	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	35641209	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36736454, 37311987	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23594289, 25109409, 25955824, 26769750, 29242529, 29643502, 30426533		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	BEFREE	19190121		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19724860, 25368251, 26398771, 31378897		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20068176, 23916913, 25869878, 26491213, 28414324, 28415716, 28416482, 28666642, 28678318, 29383147, 30408569, 31002970, 31369215, 31686849		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32547317	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23235341	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33960694	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22506064, 25969368, 26045747, 26464664, 37416763, 39334021	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28951314, 33980813	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18192969, 19784073, 22006338, 23409141, 24662767, 25303977, 25589618, 26030731, 27488595, 28061457, 28410392, 32500594, 32649944, 39222919, 39694330	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	17526737, 18192969, 24129237		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20012562, 26662955, 27259477, 27468873, 27626163, 27799771, 30839226		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	19208345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac defects	Cardiac Defects	BEFREE	25963545		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34461831	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22151989, 25120811, 27742792		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	26820064	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22370592, 28346225		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Precocious Puberty	Central Precocious Puberty	BEFREE	27235670		★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29410010		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	26999738		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23531336, 28084632, 30131677		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	29504377		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17098279, 20442293, 21646470, 25842263, 30690027, 31192472, 31205475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	CTD_human_DG	25061499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	29721172		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17098279, 19953094, 20351093, 20442293, 21646470, 25842263, 30690027, 31192472, 31205475		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19792972, 20861909, 21479985, 23908464, 25942645, 28245838		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG	21642962		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19773441, 23852537, 30297829, 30389946, 31063715		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	15887117, 29152142, 30264361, 30302867, 31546767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23423517, 23688168, 25031748, 30302867, 31211856, 31775892, 33498866, 35457006	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	34172659, 37968650	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	34172659, 37968650	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30557359, 31718671		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19190243, 21642962, 21670202, 22006338, 22077063, 22086416, 22150006, 22207691, 22484420, 22591386, 22619094, 22673746, 23086750, 23243274, 23295735, 23343182, 23435461, 23558524, 23620403, 23637131, 23690290, 23734977, 23821658, 23873701, 24103588, 24127483, 24170027, 24421328, 24550227, 24579978, 24652989, 24729385, 24781018, 24923451, 24943832, 24943833, 25605254, 25633905, 25696844, 25786252, 26041884, 26165233, 26890126, 26910488, 27040699, 27040710, 27109509, 27301861, 27469216, 27503198, 27611921, 27835908, 27959900, 28017968, 28074183, 28075457, 28314854, 28321119, 28771672, 28837890, 28935990, 29484684, 29508386, 29573199, 29687880, 29732315, 29998084, 30478302, 30510140, 30520556, 30718223, 30877410, 30924136, 30930998, 31467127, 31467429, 31578228, 31616059, 31836851		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28431315, 29874112, 31747319, 31775690		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30259982		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29037878		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21723221		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24312514	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18320325, 18777195, 19147571, 20068187, 20665495, 22863622, 28947978		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	19147571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11314036, 18184405, 18777195, 19020755, 22521243, 22863622, 24141420, 24885920, 25149074, 25802929, 26152787, 26394830, 26650241, 26744411, 26864323, 27173050, 28177944, 28407575, 28498402, 28827371, 28984154, 29126793, 29180678, 29286145, 29434883, 29471890, 30038258, 30043645, 30065304, 30850667		★☆☆☆☆ Found in Text Mining only
Colorectal Mucinous Adenocarcinoma	Colorectal Cancer	BEFREE	30323897		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18219106, 19074836		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19020755, 19147571, 21378202, 22219033, 24312514, 26394830, 26650241, 26744411, 26797410, 27983919, 29202800, 29286145, 30275242, 30850667, 30987352, 32774060, 33087513, 34257585	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21368208, 25487926, 29096354	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	GENOMICS_ENGLAND_DG	16729972		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	26563570		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	22207691, 27742074, 31230372		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26935808, 30264361		★☆☆☆☆ Found in Text Mining only
Congenital defect of skull and scalp	Aplasia cutis congenita	BEFREE	25132448		★☆☆☆☆ Found in Text Mining only
Congenital defect of skull and scalp	Aplasia cutis congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	25963545, 30511478, 31813956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	22641149, 29175286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	30557359		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG	16729972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	26820064, 36789878	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18079963, 22506064, 26464664, 26986634, 27491826, 27909050, 28279221, 28927098		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	32871987	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27753144, 30783425		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30783425		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32871987, 34954251	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	32487031	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26164125, 27989580, 28142228, 29046480, 29175286, 30783425		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	17922128	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 26974007		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG	25132448		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata telangiectatica congenita	Cutis Marmorata Telangiectatica Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11465706, 11678296, 23319657, 29728632, 29940267, 30542413, 31640732		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18354251		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31588714		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	28561022		★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	27644105	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	17927689, 36634823	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27959334, 29410010		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29523162		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20174635, 24853951		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10075489		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	40420130	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27428080, 30886104		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27407072, 27428080, 28177944, 30886104		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37522815	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28177944, 31440379		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	27858840, 37622120	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28695984, 29464183, 29496446		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29097792		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22343534, 23295735		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	19011014	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	25712052	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10221902, 10946361, 16025100, 16729972, 17662764, 18593716, 19597493, 19610107, 21457232, 22245843, 22318994, 23578328, 23613382, 24273032, 24862819, 25132448, 25914885, 25963545, 28160419		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	36788060	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31115130		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	31483290	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20174635, 24853951		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	26636678, 28614716		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37796700	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	27039384		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11078798, 21165952, 29340051, 31215145		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27039384, 32572910	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25207642, 25546156, 27389878, 29398419, 31023528		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25207642, 31023528	Associate	★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	15756589		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	29088303	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	24178439, 25486598, 31308481		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	25575134	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31948324	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Familial Adult Myoclonic 3	Familial adult myoclonic epilepsy	Pubtator	33172502	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	19008176, 20012562		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24022665		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30266659		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	30337457, 30848555, 34663841	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21939555, 23409141, 26528858, 26759717, 27734031, 29866946, 30350313, 31851786, 33725708, 34269310, 34663841, 36119057	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	29312733		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27037775, 30106161		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	31778662		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	11193154, 22461631		★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	19903178, 27528123		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	26336083	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	16025100, 16729972, 26820064, 26876948		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	BEFREE	18550849		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18550849		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29115530		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27428080		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31189722		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23447065		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	31087489		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	19190121		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	26820064	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26634853, 38092180	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	19491270, 22581828		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	21466361	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	31311407, 33526873	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34431214	Associate	★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	15361705, 26925973		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	21280156, 21691733, 21743299, 21743969, 22004682, 22249262, 23349727, 25043298, 25665548, 26165719, 27315154, 29410396, 31008529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	21280156, 23787764, 25380967, 26138445, 26469969, 26662803, 28157712, 28255276, 29857516, 32069381, 32998285, 35848447, 36214714, 37322413	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	17367064, 20028870, 21280156, 21667253, 21691733, 21743299, 21743969, 22004682, 22249262, 23349727, 24305720, 25043298, 25665548, 25704190, 26165719, 27315154, 29152141, 29410396, 31008529, 31382985		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15781650, 18359760, 19773441, 19921751, 20372862, 21667253, 22093097, 24305720, 25920606, 26669487, 26916895, 27090014, 28255276, 28297578, 28627598, 28968975, 29198941, 29410396, 29908894, 30112068, 30140373, 30170559, 30337536, 30559479, 30903095, 31277684, 31382985		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15781650, 18359760		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16729017, 18359760, 19773441, 20957337, 22093097, 23688168, 25192910, 26061751, 26676446, 26916895, 29198941, 29269413, 35419917, 36180477, 40530904	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	20531454	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28695984		★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	34431214	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20517681, 22907887, 26925973		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23955600, 25406187, 26925973, 28820917, 29697365, 36124629	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	36349665	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26820064, 31867804, 32341405, 32720365, 36478645, 40420130	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25963545, 27760138, 32720365	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	26820064, 30557359, 34328347	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30557359		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	32720365	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	22110751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Valve Diseases	Heart valve disease	Pubtator	23102684, 36908813	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	37565874	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	22245843, 28796347		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	14670925	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19190243, 27593934		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	29321718		★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	26634853	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	27229929		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	29458175		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	21892607		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	17874453, 25930743		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	18449208		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	20660789, 27473087		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	22955914, 24326827, 26160878, 36288644	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	19109228	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32711424	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29158473		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	27174585, 29088303	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28627674, 30787185		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	20174635		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31976596	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	32723315	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	34296965	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30582451, 31343412		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	34769441	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	24418111, 25050861, 26164125, 28142228, 28608148		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	28608148, 30511478, 36599283	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	25050861, 26164125, 28142228, 28608148		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21368208, 22275240, 23409141, 25166211, 27489349, 28764685, 37012358	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22172337	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22363487, 23289374, 25734817, 26160878, 29307746, 35765115, 35982489	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	26045779		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25847058, 30551382		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30902967		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29230705		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23037857		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37096442	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	19603167, 28946811		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24001612, 24726647, 31530562		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28611114, 29037878, 29248560, 29410010		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	28270211		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29523162		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30678306	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36320054	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28526405		★☆☆☆☆ Found in Text Mining only
Intestinal Atresia	Intestinal Atresia	BEFREE	31111652		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	21466361	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	22330335		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	20149523, 24700253, 29545603, 29721172, 31845224		★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	BEFREE	30950188		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	22151989, 25120811, 26971121, 27050973, 28709865		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26563570, 31102753		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	29321650		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	29321650	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	31319505		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	18192969		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	18192969	Inhibit	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	11964309		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	26753883		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20531454, 24798563	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22806125, 26206887		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	19759355, 28971991		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32123166	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31378897, 35911687, 35982489	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26398771, 30979652		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32341405	Associate	★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	23314057		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12651099, 16166587, 16738328, 16954387, 17008890, 17252014, 17557895, 18056171, 18414037, 18677410, 19652197, 19704010, 21569010, 21622646, 21670468, 21984373, 22225590, 22237151, 22491738, 22695916, 22768113, 23161489, 23307033, 23673656, 23695450, 23873701, 23898065, 23908464, 24041576, 24170027, 25194570, 25655195, 25784680, 26931577, 27872496, 27888718, 28716817, 29030004, 29138297, 29158376, 29666622, 30224337, 31530562, 31586130, 7698746, 8642337		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15472075, 16298817, 17008890, 17671232, 18184405, 18663146		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16738328, 17114293, 17557895, 18411416, 18414037, 19190243, 20618946, 24993241, 28334865, 31586130, 35020836, 35350997, 36595475, 37072664, 37833915, 38255842	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	24308033, 32711424	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15694671, 22581002, 24695418, 32711424, 37833915	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11699411, 15694671, 17008890, 18497996, 22858860, 23359069, 23974200, 24122995, 30733302, 31849496		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17107915, 18497996		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	LHGDN	16887975, 17252014, 17873882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, T-Cell	T-cell leukemia	BEFREE	16954387, 17173050, 17252014, 17404512, 17483057, 17873882, 19349467, 20823234, 21389783, 23086478, 27247421, 27593934, 30076146, 30224337, 30231940		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, T-Cell	T-cell leukemia	CTD_human_DG	25585350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	24423157		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	25406187		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	29620248, 31172614		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17305639, 28181739, 29037125, 31172614		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	36464833	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14678992, 16871543, 17920003, 19304334, 19376776, 19800882, 21480340, 21876634, 21892768, 22052196, 22705236, 22922832, 22986536, 23124652, 23179396, 24336972, 25110169, 25176314, 25337219, 26252838, 26361419, 26398566, 26530164, 26766040, 27167202, 27705934, 27840976, 28423575, 28507277, 28974890, 29048612, 29093570, 29249451, 29511600, 30384995, 30389219, 30895661, 31477177		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	14678992, 17920003		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	31189722	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31747319		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32921999	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17804701		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23651443, 24621612, 25869878, 26472724, 27049834, 27901069, 28414324, 28415716, 28678318, 28718726, 31369215, 31939436	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18625637		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18625637		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18625637, 23124208		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18625637		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18625637		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21378202, 21939555, 24277457, 24423157, 25645984, 25686823, 26394830, 32774060, 34152098, 35435367, 37416763	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23918305, 26634853, 31874951	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32733958	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	30582441	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	16688224, 17329966, 19091404, 19631984, 19794083, 22393458, 24122995, 31519704		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10075489, 16166587, 16449526, 17483057, 17621273, 18765521, 20956329, 23033986, 24525741, 27566587, 30718223, 30940846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	16298817, 16449526, 17874453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CTD_human_DG	18798262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	33191568	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	BEFREE	25141821		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	20538790, 22235305, 26302069, 27181628		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	31655559, 38255842, 38281745	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26807671		★☆☆☆☆ Found in Text Mining only
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	16160079		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20517681, 22907887, 26925973, 27108536		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	22210878, 27449094, 31676012		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28157712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15192074, 15492845, 16166334, 17534448, 17984306, 18339869, 18469855, 19025652, 19219656, 19784073, 19838210, 20204271, 20459529, 20950370, 21573501, 21665937, 21679465, 21785827, 22002679, 22151989, 22424054, 23012411, 23085450, 23500524, 24970818, 25120811, 25263445, 25287362, 25368020, 25400232, 25538079, 25544568, 25591616, 25645291, 25895060, 25963903, 26033683, 26121683, 26235741, 26299922, 26323259, 26945854, 26971121, 27345400, 27651315, 27753148, 27916718, 28108315, 28709865, 28823832, 29207146, 29431182, 29662198, 29743588, 29895705, 29956731, 30620624, 31132353, 31357442, 31527799		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11078798, 29340051		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30266659, 30848555		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	24469571		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25368251, 31378897		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21876634, 22986536, 30297396		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20068176, 23916913, 25869878, 26491213, 28415716, 28416482, 28666642, 28678318, 29383147, 30408569, 31002970, 31369215, 31686849		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28181739, 29037125, 31172614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	28195818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20012562, 26662955, 27259477, 27468873, 27626163, 27799771, 30839226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16546962, 16885366, 21463919, 22074495, 23568245, 24899509, 25638153, 25887885, 27639164, 28145431, 29896227, 30043645, 30484491, 30486896		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11585768, 19147749, 20052673, 20658545, 22938409, 23752065, 25686823, 26925973, 27384993, 27694579, 27749937, 28042317, 28457880, 29085444, 31028097, 31099068, 31122254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	18192969, 22038626, 29959199		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	27923803		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16647036, 21466361, 21976141, 22249198, 22581828, 23085543, 24113181, 25763542, 26612211, 26716415, 27489358, 28347224, 29616098, 29849934, 30024600, 30043645, 30127866, 31802831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	18664540, 19190121, 23594881, 27847111, 30158530, 31265994		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	16608439, 27391340, 29117785, 31571917		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25109409, 25574842, 25955824, 26769750, 29242529, 29643502, 30426533		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10227380, 11314036, 15867348, 16136053, 16510599, 16870249, 17344417, 17534448, 18184405, 18289013, 18418214, 18604200, 18777195, 19151708, 19516274, 20459529, 20658545, 21463919, 21723221, 21898766, 22022427, 22038626, 22116551, 22196886, 22330335, 22334400, 22484420, 22673746, 22974708, 22986536, 23179396, 23289374, 23434461, 23500524, 24113181, 24391839, 24743148, 25110169, 25175815, 25311243, 25368020, 25449776, 25544568, 25823029, 25869878, 25918160, 25990317, 26120834, 26528858, 26588464, 26625202, 26637806, 26662955, 26753883, 26759717, 26833333, 26925973, 27084744, 27135981, 27345400, 27468873, 27476721, 27489349, 27566587, 27586674, 27753148, 28042317, 28294046, 28416482, 28522590, 28745885, 28791383, 28823832, 28892521, 29088303, 29194580, 29721172, 29757189, 30425527, 30620624, 30691317, 30696875, 30941836, 30964118, 31085700, 31275431, 31605148		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	28991373		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	21868761, 28866747		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17098279, 20442293, 21646470, 25842263, 30690027, 31192472, 31205475		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18777195, 19147571, 20068187, 20665495, 22863622, 28947978		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	19147571		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15492845, 19717984, 24970818, 29662198		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15492845, 17822320, 18084619, 18559519, 18593928		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Mandibular Neoplasms	Mandibular Neoplasms	BEFREE	19008176		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28089369		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	22210878, 23407552, 27449094, 29246179, 31676012		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29093270		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	17090547, 25512616		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19424825	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19773441, 20515335, 20827750, 23852537, 30297829, 30389946, 31063715		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16239965, 18924608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	16341148	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	16618740, 18924608, 22249266, 24492617, 26967479, 27476721, 27813493, 28238683, 28828681, 29460532, 29620159, 30036609, 30941836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	22249266, 26283728, 26967479, 29620159, 30614626, 33177155, 34958806, 35138218, 35871080, 37415153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	18192969	Inhibit	★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	10227380		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30242881		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15958550, 18516297		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	18516297	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27959334, 29410010		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29410010		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30591475		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	12527910, 19047145		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30342560	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28388267, 30548287		★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	25963545	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	19104146, 19104151		★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	24579978, 27469216		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	25406187	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25631445, 29037125	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10221902, 10946361, 16025100, 16729972, 17662764, 18593716, 19597493, 19610107, 21457232, 22245843, 22318994, 23578328, 23613382, 24273032, 24862819, 25132448, 25914885, 25963545, 28160419		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14670925, 21631271, 28270494, 36752202	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21631271, 24301524, 27593934, 28270494, 28903429, 31582544		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	12357247		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19104146, 19104151, 30010211		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20814569		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	20538790, 26302069, 31930426	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31506740, 31756785		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31506740	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31756785	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18193087, 24308033, 25849484		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	27753144, 28924218		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	32871987	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	32375772, 35586671	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	30297114		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20211102, 30950204, 32458967	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24281414, 28042945, 28977931, 31270884, 31777263		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	28914715		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10075489, 15192074, 15277242, 15492845, 15520184, 15542425, 15548998, 15817159, 16081688, 16166334, 16166587, 16618740, 16688224, 16751266, 17008890, 17090547, 17342326, 17344417, 17621273, 17874453, 17948123, 18079963, 18192969, 1831692, 18469855, 18677410, 18688285, 18777195, 18981238, 19020755, 19190121, 19190337, 19289631, 19325125, 19479935, 19491270, 19536265, 19724860, 19885562, 20012562, 20015880, 20056578, 20058236, 20337864, 20393564, 20442780, 20665495, 20676038, 20736329, 21145176, 21266774, 21464222, 21613407, 21667253, 21798897, 21803744, 21939555, 21984373, 22052196, 22158038, 22196886, 22219033, 22237151, 22330335, 22393458, 22479394, 22506064, 22521243, 22773520, 22877736, 22922832, 22991264, 23071601, 23179396, 23289374, 23409141, 23435724, 23500524, 23673656, 23760448, 23826634, 23943799, 24145436, 24260356, 24277457, 24305720, 24336972, 24351288, 24458840, 24492617, 24509876, 24525741, 24587182, 24700253, 24801890, 24888228, 24899509, 25104330, 25141821, 25176314, 25278704, 25406187, 25512616, 25538079, 25580884, 25633867, 25712049, 25823029, 26294213, 26398566, 26545287, 26637806, 26775686, 27028310, 27108536, 27176495, 27229929, 27402613, 27458977, 27488595, 27521796, 27568980, 27615693, 27705934, 27738333, 27870570, 27909050, 28004113, 28017968, 28053547, 28139070, 28195818, 28241766, 28423575, 28457880, 28554745, 28664939, 28790107, 28791383, 28794048, 28796347, 28823832, 28914715, 28915655, 28974890, 28984154, 29093570, 29117785, 29170450, 29246179, 29286145, 29301578, 29340051, 29416753, 29440145, 29467336, 29471890, 29489439, 29600313, 29643502, 29757189, 29857516, 29858025, 29895705, 29909892, 30036609, 30127866, 30158530, 30170559, 30226612, 30266659, 30323897, 30384995, 30389219, 30405889, 30425527, 30567843, 30620624, 30914196, 31034097, 31045928, 31277684, 31281471, 31357721, 31382985, 31417656, 31467126, 31471323, 31759078, 31827722, 7698746, 8642337		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	22004682		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29845267, 30530967		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29356585		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10075489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	23203475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	17076661, 20736329, 21744479, 22249030, 23955600, 30511344		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	18559519		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26342562, 36121500	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30867224		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	19030935		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30543902		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27428080		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20007775, 20962575, 21598300, 21803744, 22002304, 22583356, 22940701, 23807483, 23916913, 23943799, 24509876, 24888228, 25283437, 25869878, 25996086, 28061457, 28402268, 28416482, 28607605, 28666642, 28849037, 29812958, 30237723, 30408569, 30671927, 31085700, 31170211, 31275431, 31511014, 31599420		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	25120811, 26121683		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	20186050		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	31976596	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	32723315	Stimulate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	25694352		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	25694352, 29016839	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	28195818		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29728632, 33953899, 34769441, 39754211	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	25768904	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	29387001		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	37741572	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	27192486		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22002679, 22521131, 23430952, 24802328, 25203324, 27468877, 31615908		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22521131, 24894297, 33411691, 34495871, 35909477	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	20012562, 27259477		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	27489349	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30542434		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20012562, 26662955, 27468873, 27626163, 27799771, 30839226		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16136053, 22188785, 22348144, 25545608, 25611897, 27489349, 27799771, 30068873, 31395064, 32547317, 34363722, 37105506, 37796700	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16546962, 16885366, 21463919, 22074495, 23568245, 24899509, 25638153, 25887885, 27639164, 28145431, 29896227, 30043645, 30484491, 30486896		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31718694		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	17297654		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16327489, 16628653, 21463919, 24392017, 25638153, 25887885, 26147011, 29393429, 30484491, 33498866, 33960694, 34341330	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23094054	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	16160079, 23235341	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22118425, 27542980, 27586674, 29471887		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	18192969, 26629698		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	25056374	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	23955600	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36634823	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	29515164		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30118739		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	30118739		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	17483057		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	BEFREE	23359050		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	28677782		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	24029422		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	24029422		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28764685, 31158382		★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	22245843, 23870033		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30328613		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15694671, 16688224, 17329966, 18663146, 19091404, 19631984, 19794083, 22393458, 22547598, 23033986, 24122995, 24277457, 25194570, 26644537, 27229929, 27888718, 31519704		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	16079893, 16880534, 17901244, 18663146		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10075489, 15472075, 15542425, 15548998, 15694671, 16166587, 16270038, 16398656, 16612405, 16614245, 16673019, 16707600, 16738328, 16780947, 16847353, 16954387, 17039236, 17173050, 17252014, 17329972, 17369128, 17404512, 17483057, 17560996, 17575125, 17646408, 17646409, 17874453, 17996644, 18039126, 18056171, 18184405, 18289013, 18322257, 18414037, 18560356, 18677410, 18765521, 19001083, 19055661, 19075186, 19245433, 19246562, 19318552, 19357700, 19445024, 19536265, 19631984, 19635999, 19759355, 19792972, 19907488, 20007543, 20008221, 20008222, 20015880, 20016278, 20161710, 20618946, 20622884, 20832754, 20852131, 20861909, 20861920, 20965628, 21193420, 21263446, 21302811, 21389783, 21463127, 21464222, 21527520, 21670468, 21730014, 21775206, 21803744, 21807868, 21880637, 21898766, 21948802, 21984373, 22022427, 22311010, 22349824, 22510873, 22538478, 22673746, 22695916, 22713244, 22768113, 22814294, 22916024, 23022380, 23033986, 23040356, 23086478, 23161489, 23289374, 23349303, 23354995, 23695450, 23774673, 23788636, 24090996, 24166518, 24301524, 24394663, 24424791, 24505083, 24584072, 24690100, 24726647, 24740809, 24828041, 24895337, 24952875, 25194570, 25241901, 25344525, 25355291, 25493453, 25655195, 25903014, 25930743, 26004809, 26046801, 26108691, 26220040, 26330272, 26450156, 26821066, 26931577, 27125305, 27135981, 27157619, 27582570, 27602765, 27870570, 27872496, 27888718, 28115368, 28143869, 28151717, 28174276, 28321121, 28716817, 28790107, 29023469, 29029518, 29030004, 29138297, 29158376, 29200162, 29330145, 29781813, 30038221, 30116272, 30208327, 30224337, 30256907, 30370059, 30387229, 30422351, 30567843, 30574752, 30578688, 30643281, 30718223, 30733302, 30967635, 31001470, 31142678, 31399482, 31467126, 31471323, 31530562, 31802831, 31822496		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	LHGDN	16298817, 16707600		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	19246562, 19318552, 21498710, 24394663, 28671688		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	30542434		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29248458		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	11732008, 15887117, 29248458		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	28915655		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11585768, 19147749, 20052673, 20658545, 22938409, 23752065, 25686823, 26925973, 27384993, 27694579, 27749937, 28042317, 28457880, 29085444, 31028097, 31099068, 31104008, 31122254		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	34606081	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26341090	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14602722		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	14602722, 19147749, 22938409, 25686823, 27127882, 27384993, 36439868, 38050021	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19479935, 27384993, 27941799		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	20531454	Associate	★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASDB_DG	22482804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	23037857, 24330353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	29686529		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25847058, 30551382		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28246602, 34199176, 34296965	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29874112, 31775690, 33116460, 34354706	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30350313	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30902967		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	31997628	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26464664, 26986634, 28279221		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	27470361		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27661116	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	30652694		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21948088		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	37882064	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	24797362	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11465706, 11678296, 14586405, 24525913, 29679159, 30279738		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	30951821	Associate	★☆☆☆☆ Found in Text Mining only
Right atrial enlargement	Atrial Enlargement	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right hypoplastic heart syndrome	Hypoplastic Heart Syndrome	BEFREE	28608148		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	31976596	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	34232601	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	29099504, 34202213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	30106161	Associate	★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	27816064		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	32281771	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CTD_human_DG	17849441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26394830		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29951922, 30103197		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	23733784		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10739703		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	20538790, 22718117	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	24801890, 37537257	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	30266659		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	18192969	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	22772468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	27923803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24888228, 25456735, 26482608, 27785690, 28060745, 28414324, 28415716, 29511449		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	18570928, 28060745, 28414324, 28415716, 31199602, 31939436, 33104707, 33880365, 35641209	Associate	★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	24729385, 30718223		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	28562688		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	26045779	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17305639, 18192969, 18604200, 19398252, 19934324, 20442293, 23409141, 24277457, 24292195, 24525741, 24743148, 24888228, 25234595, 25723392, 25759215, 27228302, 27488595, 27615693, 28061457, 28607605, 28791383, 28814946, 28866747, 28910158, 28914715, 29170450, 29321718, 29620248, 29757189, 30387817		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18192969, 18604200		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27923803		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21939555, 23409141, 24724606, 26528858, 26759717, 29137934, 29170450, 30043645, 31031809		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19550121, 21798893, 21798897, 23619168, 23645351, 24277457, 24292195, 24351288, 24667986, 25056374, 25275298, 25406187, 25633867, 27035284, 27391340, 27681865, 28435450, 28984303, 29053175, 29146722, 29377909, 29467336, 29533972, 30041611, 30548484, 31093971, 31427592, 31545250, 32561788, 32733958, 32932170, 33098199, 33146897, 34391381, 34563788, 34693597, 35982489, 36124629, 36169922, 36245368, 36522371, 37004423, 37088660, 37340028	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30408569		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	28195818		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	18192969, 28410392, 28984303, 31747091		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21798897, 23750501, 24001612, 24277457, 24667986, 25234595, 25440877, 25633867, 26927514, 27028310, 27035284, 27595504, 29047105, 29232766, 29489439, 29533972, 29909892, 30770351, 31422211, 31545250		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	30425527, 31778670		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	19398252, 26764364, 27391340, 30131545		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	25958931		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27428080, 29115530		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16647036, 21976141, 22249198, 22581828, 23085543, 24113181, 25763542, 26612211, 26716415, 28347224, 29616098, 29849934, 30024600, 30043645, 30127866, 31802831		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21466361, 24642622, 26612211, 27363496, 27489358, 29336669, 29781036, 29917191, 30024600, 31123165, 31874951, 31964857, 32277646, 32423385, 32704077, 33714199, 34925644, 35435367, 36232418, 37265030, 37474578, 39293524	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30988066, 32028262	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30646897		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31354856		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	15756589		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	16449526, 16688224, 17483057, 17585052, 19245433, 21527531, 29599840		★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	17483057		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	28487981		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	15361705		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	15361705	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	19597493, 30582441		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG	19597493, 27760138		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	19597493, 24400131, 30582441, 34328347	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymus Neoplasms	Thymus Neoplasms	BEFREE	16103065		★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	17090547, 18305053, 18520232	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19190121, 23918305, 25803323, 25887589, 27586674	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	19190121		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	18664540, 19190121, 23594881, 27847111, 30158530, 31265994		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	24419754, 27586674	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17090547		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18664540, 23594881, 27847111, 30158530, 31265994		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19190121, 26847059, 30158530, 40415364	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	LHGDN	16608439		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	27391340, 31023264, 34952204	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	31775690	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid atresia	Pubtator	23798201	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23824643, 25104330, 25963903, 27651315, 27941886, 28923385, 29031923, 29307746, 29662198, 30333478, 30336197, 30564555, 31357442		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25068292, 26676751, 27491809, 27651315, 29307746, 30336197, 31105691, 31742868, 32032581, 35022313, 35186194, 37796506, 38291201	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26418877	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	28638431		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	26434588		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	22110751		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19023031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	BEFREE	31432509		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	31760940	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26729194, 28745938, 29242529, 34562599, 36430344	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25167871		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	25061499		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12208848	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17425682, 24905589, 27581326, 31205475, 31898650, 31976596, 32951893, 33300051, 36972141	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Diseases	Uterine polyp	Pubtator	18691378	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	22937170	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	32479651	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	34954251	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22306179, 23965337, 25132448		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	24662767	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	37951941	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	37951845	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30629480		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25694352		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	29845267, 30530967	Associate	★☆☆☆☆ Found in Text Mining only