RUNX1 (RUNX family transcription factor 1)

Gene

• Entrez ID: 861
• Gene name: RUNX family transcription factor 1
• Gene symbol: RUNX1
• Synonyms (NCBI Gene): AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
• Chromosome: 21
• Chromosome location: 21q22.12
• Summary: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of norm

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315450	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121912498	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121912499	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs121912500	G>T	Pathogenic, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs150042294	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs561166961	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs761390141	C>A,G,T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, genic downstream transcript variant
rs769628054	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1057519748	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1060502579	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1555884790	->CG	Pathogenic, likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555889984	C>A	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs1555899735	A>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555899813	->CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569001972	->AGCCGCCCACCATGGAGAACTGGTAGGAGCCGGCCGAGGCGCCGTAGTACAGGTGGTAGGAGGG	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1569002077	->CCGA	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1569002159	->GAGC	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1569002296	G>T	Likely-pathogenic	Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1569002881	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1569008655	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1569009004	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1569037127	G>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1569061762	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569061768	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569061786	T>A,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569061831	G>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569084032	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569084082	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569084106	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569084116	T>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569084170	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569084388	CC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569084451	CGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569084530	->GGCGTCCGGGGCGCCCAGCGGCAACGCC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569084646	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1601333051	C>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1601415426	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs1601470652	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1601528621	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1601528701	GAGCAGAGGAA>CAGCGGAAGGAG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003741	hsa-miR-17-5p	Luciferase reporter assay	17589498
MIRT003742	hsa-miR-20a-5p	Luciferase reporter assay, qRT-PCR, Western blot	17589498
MIRT003743	hsa-miR-106a-5p	Luciferase reporter assay, qRT-PCR, Western blot	17589498
MIRT003741	hsa-miR-17-5p	Luciferase reporter assay	17589498
MIRT003742	hsa-miR-20a-5p	Luciferase reporter assay, qRT-PCR, Western blot	17589498
MIRT003743	hsa-miR-106a-5p	Luciferase reporter assay, qRT-PCR, Western blot	17589498
MIRT003741	hsa-miR-17-5p	Reporter assay, qRT-PCR, Western blot	17589498
MIRT038069	hsa-miR-423-5p	CLASH	23622248
MIRT053591	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR, Western blot	24388988
MIRT053591	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR, Western blot	24388988
MIRT438218	hsa-miR-221-3p	qRT-PCR, Western blot	24329418
MIRT438218	hsa-miR-221-3p	qRT-PCR, Western blot	24329418
MIRT699903	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699902	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT000107	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT699901	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT699900	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT534556	hsa-miR-551b-5p	HITS-CLIP	23313552
MIRT699899	hsa-miR-1179	HITS-CLIP	23313552
MIRT699898	hsa-miR-2115-3p	HITS-CLIP	23313552
MIRT699897	hsa-miR-141-5p	HITS-CLIP	23313552
MIRT699896	hsa-miR-4310	HITS-CLIP	23313552
MIRT699895	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT699894	hsa-miR-1470	HITS-CLIP	23313552
MIRT699893	hsa-miR-4667-3p	HITS-CLIP	23313552
MIRT699892	hsa-miR-1266-3p	HITS-CLIP	23313552
MIRT699891	hsa-miR-3160-5p	HITS-CLIP	23313552
MIRT699890	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT699889	hsa-miR-642a-5p	HITS-CLIP	23313552
MIRT699888	hsa-miR-4497	HITS-CLIP	23313552
MIRT699887	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT699886	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT699885	hsa-miR-4755-5p	HITS-CLIP	23313552
MIRT699884	hsa-miR-5006-3p	HITS-CLIP	23313552
MIRT699883	hsa-miR-7152-5p	HITS-CLIP	23313552
MIRT699882	hsa-miR-4446-5p	HITS-CLIP	23313552
MIRT699881	hsa-miR-6885-3p	HITS-CLIP	23313552
MIRT203374	hsa-miR-8485	HITS-CLIP	23313552
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT622382	hsa-miR-5096	HITS-CLIP	23824327
MIRT622381	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT622382	hsa-miR-5096	HITS-CLIP	23824327
MIRT622381	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT569545	hsa-miR-922	PAR-CLIP	20371350
MIRT569543	hsa-miR-4530	PAR-CLIP	20371350
MIRT569544	hsa-miR-3960	PAR-CLIP	20371350
MIRT569542	hsa-miR-8072	PAR-CLIP	20371350
MIRT569541	hsa-miR-6853-5p	PAR-CLIP	20371350
MIRT569540	hsa-miR-4467	PAR-CLIP	20371350
MIRT569539	hsa-miR-4417	PAR-CLIP	20371350
MIRT534556	hsa-miR-551b-5p	PAR-CLIP	22012620
MIRT534555	hsa-miR-605-5p	PAR-CLIP	22012620
MIRT534554	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT534553	hsa-miR-4308	PAR-CLIP	22012620
MIRT534552	hsa-miR-4292	PAR-CLIP	22012620
MIRT534551	hsa-miR-6791-5p	PAR-CLIP	22012620
MIRT534550	hsa-miR-3183	PAR-CLIP	22012620
MIRT534549	hsa-miR-4723-3p	PAR-CLIP	22012620
MIRT534548	hsa-miR-6769b-3p	PAR-CLIP	22012620
MIRT534547	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT534546	hsa-miR-1285-3p	PAR-CLIP	22012620
MIRT534545	hsa-miR-3187-5p	PAR-CLIP	22012620
MIRT534544	hsa-miR-5189-5p	PAR-CLIP	22012620
MIRT534543	hsa-miR-612	PAR-CLIP	22012620
MIRT534542	hsa-miR-6860	PAR-CLIP	22012620
MIRT534541	hsa-miR-6721-5p	PAR-CLIP	22012620
MIRT534540	hsa-miR-4792	PAR-CLIP	22012620
MIRT534539	hsa-miR-7111-3p	PAR-CLIP	22012620
MIRT731126	hsa-miR-18a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25452107
MIRT731126	hsa-miR-18a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25452107
MIRT731126	hsa-miR-18a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25452107
MIRT699900	hsa-miR-27b-3p	Luciferase reporter assay	26870610
MIRT699900	hsa-miR-27b-3p	Luciferase reporter assay	26870610
MIRT732121	hsa-miR-215-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26716895
MIRT732121	hsa-miR-215-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26716895
MIRT053591	hsa-miR-675-5p	qRT-PCR, Western blot	26931432
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay	26580398
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay	26580398
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay	26580398
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay	26580398
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay	26580398
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay	26580398
MIRT622381	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT622381	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT622381	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT622381	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT622381	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT622383	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT622383	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT622383	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT622383	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT622383	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT622383	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT622382	hsa-miR-5096	HITS-CLIP	27418678
MIRT622382	hsa-miR-5096	HITS-CLIP	27418678
MIRT622382	hsa-miR-5096	HITS-CLIP	27418678
MIRT622382	hsa-miR-5096	HITS-CLIP	27418678
MIRT622382	hsa-miR-5096	HITS-CLIP	27418678
MIRT203374	hsa-miR-8485	HITS-CLIP	27418678
MIRT203374	hsa-miR-8485	HITS-CLIP	27418678
MIRT203374	hsa-miR-8485	HITS-CLIP	27418678
MIRT203374	hsa-miR-8485	HITS-CLIP	27418678
MIRT203374	hsa-miR-8485	HITS-CLIP	27418678
MIRT203374	hsa-miR-8485	HITS-CLIP	27418678
MIRT732904	hsa-miR-423-3p	Immunofluorescence, RNA-seq, qRT-PCR, Western blotting	33239422
MIRT734407	hsa-miR-188-3p	Luciferase reporter assay, qRT-PCR	32671065
MIRT734851	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Flow cytometry	32386260
MIRT732121	hsa-miR-215-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31498483
MIRT736382	hsa-miR-29b-1-5p	Western blotting, qRT-PCR	33325145
MIRT736382	hsa-miR-29b-1-5p	Western blotting, qRT-PCR	33325145
MIRT699901	hsa-miR-128-3p	qRT-PCR	33174052
MIRT699903	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699902	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT000107	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT699901	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT699900	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT534556	hsa-miR-551b-5p	HITS-CLIP	23313552
MIRT699899	hsa-miR-1179	HITS-CLIP	23313552
MIRT699898	hsa-miR-2115-3p	HITS-CLIP	23313552
MIRT699897	hsa-miR-141-5p	HITS-CLIP	23313552
MIRT699896	hsa-miR-4310	HITS-CLIP	23313552
MIRT699895	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT699894	hsa-miR-1470	HITS-CLIP	23313552
MIRT699893	hsa-miR-4667-3p	HITS-CLIP	23313552
MIRT699892	hsa-miR-1266-3p	HITS-CLIP	23313552
MIRT699891	hsa-miR-3160-5p	HITS-CLIP	23313552
MIRT699890	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT699889	hsa-miR-642a-5p	HITS-CLIP	23313552
MIRT699888	hsa-miR-4497	HITS-CLIP	23313552
MIRT699887	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT699886	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT699885	hsa-miR-4755-5p	HITS-CLIP	23313552
MIRT699884	hsa-miR-5006-3p	HITS-CLIP	23313552
MIRT699883	hsa-miR-7152-5p	HITS-CLIP	23313552
MIRT699882	hsa-miR-4446-5p	HITS-CLIP	23313552
MIRT699881	hsa-miR-6885-3p	HITS-CLIP	23313552
MIRT203374	hsa-miR-8485	HITS-CLIP	23313552
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT622382	hsa-miR-5096	HITS-CLIP	23824327
MIRT622381	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT622383	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT622382	hsa-miR-5096	HITS-CLIP	23824327
MIRT622381	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT203374	hsa-miR-8485	HITS-CLIP	23824327
MIRT612533	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT569545	hsa-miR-922	PAR-CLIP	20371350
MIRT569543	hsa-miR-4530	PAR-CLIP	20371350
MIRT569544	hsa-miR-3960	PAR-CLIP	20371350
MIRT569542	hsa-miR-8072	PAR-CLIP	20371350
MIRT569541	hsa-miR-6853-5p	PAR-CLIP	20371350
MIRT569540	hsa-miR-4467	PAR-CLIP	20371350
MIRT569539	hsa-miR-4417	PAR-CLIP	20371350
MIRT534556	hsa-miR-551b-5p	PAR-CLIP	22012620
MIRT534555	hsa-miR-605-5p	PAR-CLIP	22012620
MIRT534554	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT534553	hsa-miR-4308	PAR-CLIP	22012620
MIRT534552	hsa-miR-4292	PAR-CLIP	22012620
MIRT534551	hsa-miR-6791-5p	PAR-CLIP	22012620
MIRT534550	hsa-miR-3183	PAR-CLIP	22012620
MIRT534549	hsa-miR-4723-3p	PAR-CLIP	22012620
MIRT534548	hsa-miR-6769b-3p	PAR-CLIP	22012620
MIRT534547	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT534546	hsa-miR-1285-3p	PAR-CLIP	22012620
MIRT534545	hsa-miR-3187-5p	PAR-CLIP	22012620
MIRT534544	hsa-miR-5189-5p	PAR-CLIP	22012620
MIRT534543	hsa-miR-612	PAR-CLIP	22012620
MIRT534542	hsa-miR-6860	PAR-CLIP	22012620
MIRT534541	hsa-miR-6721-5p	PAR-CLIP	22012620
MIRT534540	hsa-miR-4792	PAR-CLIP	22012620
MIRT534539	hsa-miR-7111-3p	PAR-CLIP	22012620
MIRT755446	hsa-miR-181a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36604945
MIRT1322733	hsa-miR-101	CLIP-seq
MIRT1322734	hsa-miR-1208	CLIP-seq
MIRT1322735	hsa-miR-1248	CLIP-seq
MIRT1322736	hsa-miR-1251	CLIP-seq
MIRT1322737	hsa-miR-1263	CLIP-seq
MIRT1322738	hsa-miR-1279	CLIP-seq
MIRT1322739	hsa-miR-128	CLIP-seq
MIRT1322740	hsa-miR-1293	CLIP-seq
MIRT1322741	hsa-miR-135a	CLIP-seq
MIRT1322742	hsa-miR-135b	CLIP-seq
MIRT1322743	hsa-miR-139-5p	CLIP-seq
MIRT1322744	hsa-miR-141	CLIP-seq
MIRT1322745	hsa-miR-144	CLIP-seq
MIRT1322746	hsa-miR-15a	CLIP-seq
MIRT1322747	hsa-miR-15b	CLIP-seq
MIRT1322748	hsa-miR-16	CLIP-seq
MIRT1322749	hsa-miR-195	CLIP-seq
MIRT1322750	hsa-miR-200a	CLIP-seq
MIRT1322751	hsa-miR-203	CLIP-seq
MIRT1322752	hsa-miR-224	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT1322755	hsa-miR-3121-3p	CLIP-seq
MIRT1322756	hsa-miR-3124-3p	CLIP-seq
MIRT1322757	hsa-miR-3130-3p	CLIP-seq
MIRT1322758	hsa-miR-3140-3p	CLIP-seq
MIRT1322759	hsa-miR-3162-3p	CLIP-seq
MIRT1322760	hsa-miR-3163	CLIP-seq
MIRT1322761	hsa-miR-330-3p	CLIP-seq
MIRT1322762	hsa-miR-331-3p	CLIP-seq
MIRT1322763	hsa-miR-3609	CLIP-seq
MIRT1322764	hsa-miR-3613-3p	CLIP-seq
MIRT1322765	hsa-miR-3653	CLIP-seq
MIRT1322766	hsa-miR-3654	CLIP-seq
MIRT1322767	hsa-miR-3682-5p	CLIP-seq
MIRT1322768	hsa-miR-3714	CLIP-seq
MIRT1322769	hsa-miR-377	CLIP-seq
MIRT1322770	hsa-miR-3907	CLIP-seq
MIRT1322771	hsa-miR-3942-3p	CLIP-seq
MIRT1322772	hsa-miR-424	CLIP-seq
MIRT1322773	hsa-miR-4272	CLIP-seq
MIRT1322774	hsa-miR-4299	CLIP-seq
MIRT1322775	hsa-miR-4436a	CLIP-seq
MIRT1322776	hsa-miR-4447	CLIP-seq
MIRT1322777	hsa-miR-4468	CLIP-seq
MIRT1322778	hsa-miR-4472	CLIP-seq
MIRT1322779	hsa-miR-4483	CLIP-seq
MIRT1322780	hsa-miR-4511	CLIP-seq
MIRT1322781	hsa-miR-451b	CLIP-seq
MIRT1322782	hsa-miR-4535	CLIP-seq
MIRT1322783	hsa-miR-4539	CLIP-seq
MIRT1322784	hsa-miR-4658	CLIP-seq
MIRT1322785	hsa-miR-4668-3p	CLIP-seq
MIRT1322786	hsa-miR-4684-5p	CLIP-seq
MIRT1322787	hsa-miR-4686	CLIP-seq
MIRT1322788	hsa-miR-4699-3p	CLIP-seq
MIRT1322789	hsa-miR-4700-3p	CLIP-seq
MIRT1322790	hsa-miR-4716-5p	CLIP-seq
MIRT1322791	hsa-miR-4738-5p	CLIP-seq
MIRT1322792	hsa-miR-4758-5p	CLIP-seq
MIRT1322793	hsa-miR-4765	CLIP-seq
MIRT1322794	hsa-miR-4766-3p	CLIP-seq
MIRT1322795	hsa-miR-4766-5p	CLIP-seq
MIRT1322796	hsa-miR-4777-5p	CLIP-seq
MIRT1322797	hsa-miR-4786-5p	CLIP-seq
MIRT1322798	hsa-miR-4793-3p	CLIP-seq
MIRT1322799	hsa-miR-492	CLIP-seq
MIRT1322800	hsa-miR-497	CLIP-seq
MIRT1322801	hsa-miR-513a-3p	CLIP-seq
MIRT1322802	hsa-miR-520d-5p	CLIP-seq
MIRT1322803	hsa-miR-524-5p	CLIP-seq
MIRT1322804	hsa-miR-548ah	CLIP-seq
MIRT1322805	hsa-miR-548b-3p	CLIP-seq
MIRT1322806	hsa-miR-548c-3p	CLIP-seq
MIRT1322807	hsa-miR-548p	CLIP-seq
MIRT1322808	hsa-miR-548t	CLIP-seq
MIRT1322809	hsa-miR-562	CLIP-seq
MIRT1322810	hsa-miR-577	CLIP-seq
MIRT1322811	hsa-miR-578	CLIP-seq
MIRT1322812	hsa-miR-581	CLIP-seq
MIRT1322813	hsa-miR-587	CLIP-seq
MIRT1322814	hsa-miR-642a	CLIP-seq
MIRT1322815	hsa-miR-653	CLIP-seq
MIRT1322816	hsa-miR-654-3p	CLIP-seq
MIRT1322817	hsa-miR-769-5p	CLIP-seq
MIRT1322818	hsa-miR-936	CLIP-seq
MIRT1322819	hsa-miR-942	CLIP-seq
MIRT1322736	hsa-miR-1251	CLIP-seq
MIRT1322820	hsa-miR-1261	CLIP-seq
MIRT1322821	hsa-miR-1285	CLIP-seq
MIRT1322822	hsa-miR-1299	CLIP-seq
MIRT1322823	hsa-miR-199a-3p	CLIP-seq
MIRT1322824	hsa-miR-199b-3p	CLIP-seq
MIRT1322825	hsa-miR-219-1-3p	CLIP-seq
MIRT1322826	hsa-miR-219-2-3p	CLIP-seq
MIRT1322752	hsa-miR-224	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT1322827	hsa-miR-2964a-3p	CLIP-seq
MIRT1322828	hsa-miR-30a	CLIP-seq
MIRT1322829	hsa-miR-30b	CLIP-seq
MIRT1322830	hsa-miR-30c	CLIP-seq
MIRT1322831	hsa-miR-30d	CLIP-seq
MIRT1322832	hsa-miR-30e	CLIP-seq
MIRT1322833	hsa-miR-3129-5p	CLIP-seq
MIRT1322758	hsa-miR-3140-3p	CLIP-seq
MIRT1322760	hsa-miR-3163	CLIP-seq
MIRT1322834	hsa-miR-3173-3p	CLIP-seq
MIRT1322835	hsa-miR-324-5p	CLIP-seq
MIRT1322763	hsa-miR-3609	CLIP-seq
MIRT1322764	hsa-miR-3613-3p	CLIP-seq
MIRT1322836	hsa-miR-3616-3p	CLIP-seq
MIRT1322837	hsa-miR-3646	CLIP-seq
MIRT1322838	hsa-miR-3662	CLIP-seq
MIRT1322839	hsa-miR-3679-3p	CLIP-seq
MIRT1322767	hsa-miR-3682-5p	CLIP-seq
MIRT1322770	hsa-miR-3907	CLIP-seq
MIRT1322771	hsa-miR-3942-3p	CLIP-seq
MIRT1322840	hsa-miR-4421	CLIP-seq
MIRT1322841	hsa-miR-4428	CLIP-seq
MIRT1322842	hsa-miR-4452	CLIP-seq
MIRT1322843	hsa-miR-4477b	CLIP-seq
MIRT1322844	hsa-miR-4495	CLIP-seq
MIRT1322780	hsa-miR-4511	CLIP-seq
MIRT1322845	hsa-miR-4645-3p	CLIP-seq
MIRT1322846	hsa-miR-4649-5p	CLIP-seq
MIRT1322785	hsa-miR-4668-3p	CLIP-seq
MIRT1322847	hsa-miR-4670-3p	CLIP-seq
MIRT1322786	hsa-miR-4684-5p	CLIP-seq
MIRT1322848	hsa-miR-4712-3p	CLIP-seq
MIRT1322849	hsa-miR-4721	CLIP-seq
MIRT1322850	hsa-miR-4752	CLIP-seq
MIRT1322851	hsa-miR-4773	CLIP-seq
MIRT1322796	hsa-miR-4777-5p	CLIP-seq
MIRT1322852	hsa-miR-4782-5p	CLIP-seq
MIRT1322853	hsa-miR-488	CLIP-seq
MIRT1322801	hsa-miR-513a-3p	CLIP-seq
MIRT1322854	hsa-miR-516b	CLIP-seq
MIRT1322855	hsa-miR-544b	CLIP-seq
MIRT1322804	hsa-miR-548ah	CLIP-seq
MIRT1322805	hsa-miR-548b-3p	CLIP-seq
MIRT1322808	hsa-miR-548t	CLIP-seq
MIRT1322856	hsa-miR-571	CLIP-seq
MIRT1322810	hsa-miR-577	CLIP-seq
MIRT1322819	hsa-miR-942	CLIP-seq
MIRT1322821	hsa-miR-1285	CLIP-seq
MIRT1553210	hsa-miR-410	CLIP-seq
MIRT1553211	hsa-miR-605	CLIP-seq
MIRT2095748	hsa-miR-106a	CLIP-seq
MIRT2095749	hsa-miR-106b	CLIP-seq
MIRT2095750	hsa-miR-1182	CLIP-seq
MIRT2095751	hsa-miR-1245b-3p	CLIP-seq
MIRT1322735	hsa-miR-1248	CLIP-seq
MIRT1322739	hsa-miR-128	CLIP-seq
MIRT1322821	hsa-miR-1285	CLIP-seq
MIRT2095752	hsa-miR-129-5p	CLIP-seq
MIRT1322822	hsa-miR-1299	CLIP-seq
MIRT1322741	hsa-miR-135a	CLIP-seq
MIRT1322742	hsa-miR-135b	CLIP-seq
MIRT2095753	hsa-miR-138	CLIP-seq
MIRT2095754	hsa-miR-149	CLIP-seq
MIRT2095755	hsa-miR-17	CLIP-seq
MIRT2095756	hsa-miR-192	CLIP-seq
MIRT1322823	hsa-miR-199a-3p	CLIP-seq
MIRT1322824	hsa-miR-199b-3p	CLIP-seq
MIRT2095757	hsa-miR-20a	CLIP-seq
MIRT2095758	hsa-miR-20b	CLIP-seq
MIRT2095759	hsa-miR-215	CLIP-seq
MIRT2095760	hsa-miR-217	CLIP-seq
MIRT1322752	hsa-miR-224	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT2095761	hsa-miR-296-5p	CLIP-seq
MIRT2095762	hsa-miR-302a	CLIP-seq
MIRT2095763	hsa-miR-302b	CLIP-seq
MIRT2095764	hsa-miR-302c	CLIP-seq
MIRT2095765	hsa-miR-302d	CLIP-seq
MIRT2095766	hsa-miR-302e	CLIP-seq
MIRT2095767	hsa-miR-3064-5p	CLIP-seq
MIRT2095768	hsa-miR-3120-3p	CLIP-seq
MIRT1322755	hsa-miR-3121-3p	CLIP-seq
MIRT1322756	hsa-miR-3124-3p	CLIP-seq
MIRT2095769	hsa-miR-3126-3p	CLIP-seq
MIRT1322833	hsa-miR-3129-5p	CLIP-seq
MIRT2095770	hsa-miR-3148	CLIP-seq
MIRT1322760	hsa-miR-3163	CLIP-seq
MIRT2095771	hsa-miR-3170	CLIP-seq
MIRT2095772	hsa-miR-3179	CLIP-seq
MIRT2095773	hsa-miR-3189-3p	CLIP-seq
MIRT2095774	hsa-miR-3192	CLIP-seq
MIRT2095775	hsa-miR-323b-3p	CLIP-seq
MIRT1322835	hsa-miR-324-5p	CLIP-seq
MIRT1322761	hsa-miR-330-3p	CLIP-seq
MIRT2095776	hsa-miR-338-5p	CLIP-seq
MIRT2095777	hsa-miR-342-5p	CLIP-seq
MIRT2095778	hsa-miR-3611	CLIP-seq
MIRT2095779	hsa-miR-361-5p	CLIP-seq
MIRT1322836	hsa-miR-3616-3p	CLIP-seq
MIRT2095780	hsa-miR-3647-3p	CLIP-seq
MIRT1322765	hsa-miR-3653	CLIP-seq
MIRT1322766	hsa-miR-3654	CLIP-seq
MIRT2095781	hsa-miR-3658	CLIP-seq
MIRT1322767	hsa-miR-3682-5p	CLIP-seq
MIRT2095782	hsa-miR-372	CLIP-seq
MIRT2095783	hsa-miR-373	CLIP-seq
MIRT1322769	hsa-miR-377	CLIP-seq
MIRT2095784	hsa-miR-4271	CLIP-seq
MIRT1322773	hsa-miR-4272	CLIP-seq
MIRT1322774	hsa-miR-4299	CLIP-seq
MIRT2095785	hsa-miR-4314	CLIP-seq
MIRT2095786	hsa-miR-4418	CLIP-seq
MIRT2095787	hsa-miR-4456	CLIP-seq
MIRT2095788	hsa-miR-4501	CLIP-seq
MIRT2095789	hsa-miR-450b-5p	CLIP-seq
MIRT1322780	hsa-miR-4511	CLIP-seq
MIRT1322781	hsa-miR-451b	CLIP-seq
MIRT2095790	hsa-miR-4520a-3p	CLIP-seq
MIRT2095791	hsa-miR-4520b-3p	CLIP-seq
MIRT2095792	hsa-miR-4529-3p	CLIP-seq
MIRT2095793	hsa-miR-4646-5p	CLIP-seq
MIRT1322846	hsa-miR-4649-5p	CLIP-seq
MIRT2095794	hsa-miR-4651	CLIP-seq
MIRT1322784	hsa-miR-4658	CLIP-seq
MIRT2095795	hsa-miR-4664-5p	CLIP-seq
MIRT1322785	hsa-miR-4668-3p	CLIP-seq
MIRT1322788	hsa-miR-4699-3p	CLIP-seq
MIRT2095796	hsa-miR-4716-3p	CLIP-seq
MIRT1322790	hsa-miR-4716-5p	CLIP-seq
MIRT2095797	hsa-miR-4719	CLIP-seq
MIRT1322849	hsa-miR-4721	CLIP-seq
MIRT2095798	hsa-miR-4725-3p	CLIP-seq
MIRT1322792	hsa-miR-4758-5p	CLIP-seq
MIRT1322793	hsa-miR-4765	CLIP-seq
MIRT2095799	hsa-miR-4768-5p	CLIP-seq
MIRT1322852	hsa-miR-4782-5p	CLIP-seq
MIRT2095800	hsa-miR-4794	CLIP-seq
MIRT2095801	hsa-miR-507	CLIP-seq
MIRT2095802	hsa-miR-509-3-5p	CLIP-seq
MIRT2095803	hsa-miR-509-5p	CLIP-seq
MIRT1322854	hsa-miR-516b	CLIP-seq
MIRT2095804	hsa-miR-519d	CLIP-seq
MIRT2095805	hsa-miR-520a-3p	CLIP-seq
MIRT2095806	hsa-miR-520b	CLIP-seq
MIRT2095807	hsa-miR-520c-3p	CLIP-seq
MIRT2095808	hsa-miR-520d-3p	CLIP-seq
MIRT2095809	hsa-miR-520e	CLIP-seq
MIRT2095810	hsa-miR-520g	CLIP-seq
MIRT2095811	hsa-miR-520h	CLIP-seq
MIRT2095812	hsa-miR-541	CLIP-seq
MIRT2095813	hsa-miR-548q	CLIP-seq
MIRT2095814	hsa-miR-557	CLIP-seq
MIRT2095815	hsa-miR-561	CLIP-seq
MIRT2095816	hsa-miR-579	CLIP-seq
MIRT2095817	hsa-miR-584	CLIP-seq
MIRT1322813	hsa-miR-587	CLIP-seq
MIRT1553211	hsa-miR-605	CLIP-seq
MIRT2095818	hsa-miR-608	CLIP-seq
MIRT2095819	hsa-miR-625	CLIP-seq
MIRT1322814	hsa-miR-642a	CLIP-seq
MIRT1322815	hsa-miR-653	CLIP-seq
MIRT2095820	hsa-miR-654-5p	CLIP-seq
MIRT2095821	hsa-miR-875-3p	CLIP-seq
MIRT2095822	hsa-miR-93	CLIP-seq
MIRT2095823	hsa-miR-938	CLIP-seq
MIRT2095750	hsa-miR-1182	CLIP-seq
MIRT1322820	hsa-miR-1261	CLIP-seq
MIRT1322739	hsa-miR-128	CLIP-seq
MIRT1322821	hsa-miR-1285	CLIP-seq
MIRT2095752	hsa-miR-129-5p	CLIP-seq
MIRT1322822	hsa-miR-1299	CLIP-seq
MIRT2320192	hsa-miR-1324	CLIP-seq
MIRT1322744	hsa-miR-141	CLIP-seq
MIRT2320193	hsa-miR-146b-3p	CLIP-seq
MIRT2320194	hsa-miR-181a	CLIP-seq
MIRT2320195	hsa-miR-181b	CLIP-seq
MIRT2320196	hsa-miR-181c	CLIP-seq
MIRT2320197	hsa-miR-181d	CLIP-seq
MIRT2095756	hsa-miR-192	CLIP-seq
MIRT1322823	hsa-miR-199a-3p	CLIP-seq
MIRT1322824	hsa-miR-199b-3p	CLIP-seq
MIRT1322750	hsa-miR-200a	CLIP-seq
MIRT2320198	hsa-miR-200b	CLIP-seq
MIRT2320199	hsa-miR-200c	CLIP-seq
MIRT2095759	hsa-miR-215	CLIP-seq
MIRT1322825	hsa-miR-219-1-3p	CLIP-seq
MIRT2320200	hsa-miR-22	CLIP-seq
MIRT1322752	hsa-miR-224	CLIP-seq
MIRT2320201	hsa-miR-2276	CLIP-seq
MIRT2320202	hsa-miR-23a	CLIP-seq
MIRT2320203	hsa-miR-23b	CLIP-seq
MIRT2320204	hsa-miR-23c	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT2320205	hsa-miR-3065-5p	CLIP-seq
MIRT1322828	hsa-miR-30a	CLIP-seq
MIRT1322829	hsa-miR-30b	CLIP-seq
MIRT1322830	hsa-miR-30c	CLIP-seq
MIRT1322831	hsa-miR-30d	CLIP-seq
MIRT1322832	hsa-miR-30e	CLIP-seq
MIRT1322755	hsa-miR-3121-3p	CLIP-seq
MIRT1322833	hsa-miR-3129-5p	CLIP-seq
MIRT2320206	hsa-miR-3155	CLIP-seq
MIRT2320207	hsa-miR-3155b	CLIP-seq
MIRT1322760	hsa-miR-3163	CLIP-seq
MIRT2320208	hsa-miR-3173-5p	CLIP-seq
MIRT2320209	hsa-miR-3182	CLIP-seq
MIRT2320210	hsa-miR-3202	CLIP-seq
MIRT2320211	hsa-miR-323-3p	CLIP-seq
MIRT2320212	hsa-miR-3661	CLIP-seq
MIRT1322838	hsa-miR-3662	CLIP-seq
MIRT2320213	hsa-miR-3665	CLIP-seq
MIRT1322767	hsa-miR-3682-5p	CLIP-seq
MIRT1322768	hsa-miR-3714	CLIP-seq
MIRT1322769	hsa-miR-377	CLIP-seq
MIRT2320214	hsa-miR-3922-5p	CLIP-seq
MIRT2320215	hsa-miR-4262	CLIP-seq
MIRT2320216	hsa-miR-4263	CLIP-seq
MIRT2320217	hsa-miR-4267	CLIP-seq
MIRT2320218	hsa-miR-429	CLIP-seq
MIRT2320219	hsa-miR-4419a	CLIP-seq
MIRT2320220	hsa-miR-4459	CLIP-seq
MIRT1322844	hsa-miR-4495	CLIP-seq
MIRT2320221	hsa-miR-4505	CLIP-seq
MIRT2095789	hsa-miR-450b-5p	CLIP-seq
MIRT2320222	hsa-miR-4510	CLIP-seq
MIRT2095790	hsa-miR-4520a-3p	CLIP-seq
MIRT2320223	hsa-miR-4533	CLIP-seq
MIRT1322783	hsa-miR-4539	CLIP-seq
MIRT2320224	hsa-miR-4643	CLIP-seq
MIRT2320225	hsa-miR-4652-3p	CLIP-seq
MIRT1322785	hsa-miR-4668-3p	CLIP-seq
MIRT2320226	hsa-miR-4695-5p	CLIP-seq
MIRT2095797	hsa-miR-4719	CLIP-seq
MIRT739033	hsa-miR-4720-3p	CLIP-seq
MIRT1322791	hsa-miR-4738-5p	CLIP-seq
MIRT2320227	hsa-miR-4763-5p	CLIP-seq
MIRT2320228	hsa-miR-4772-3p	CLIP-seq
MIRT1322852	hsa-miR-4782-5p	CLIP-seq
MIRT2095800	hsa-miR-4794	CLIP-seq
MIRT2320229	hsa-miR-4796-3p	CLIP-seq
MIRT2320230	hsa-miR-484	CLIP-seq
MIRT2320231	hsa-miR-498	CLIP-seq
MIRT2095801	hsa-miR-507	CLIP-seq
MIRT2320232	hsa-miR-509-3p	CLIP-seq
MIRT1322854	hsa-miR-516b	CLIP-seq
MIRT2320233	hsa-miR-548aa	CLIP-seq
MIRT2320234	hsa-miR-548ac	CLIP-seq
MIRT2320235	hsa-miR-548ae	CLIP-seq
MIRT2320236	hsa-miR-548aj	CLIP-seq
MIRT2320237	hsa-miR-548am	CLIP-seq
MIRT1322806	hsa-miR-548c-3p	CLIP-seq
MIRT2320238	hsa-miR-548d-3p	CLIP-seq
MIRT2095813	hsa-miR-548q	CLIP-seq
MIRT2320239	hsa-miR-548x	CLIP-seq
MIRT2320240	hsa-miR-548z	CLIP-seq
MIRT2095814	hsa-miR-557	CLIP-seq
MIRT2320241	hsa-miR-576-5p	CLIP-seq
MIRT2095816	hsa-miR-579	CLIP-seq
MIRT1322813	hsa-miR-587	CLIP-seq
MIRT2320242	hsa-miR-631	CLIP-seq
MIRT1322814	hsa-miR-642a	CLIP-seq
MIRT1322815	hsa-miR-653	CLIP-seq
MIRT2320243	hsa-miR-657	CLIP-seq
MIRT2320244	hsa-miR-664	CLIP-seq
MIRT2320245	hsa-miR-767-3p	CLIP-seq
MIRT2320246	hsa-miR-874	CLIP-seq
MIRT2095821	hsa-miR-875-3p	CLIP-seq
MIRT2320247	hsa-miR-891b	CLIP-seq
MIRT1322739	hsa-miR-128	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT1322835	hsa-miR-324-5p	CLIP-seq
MIRT1322769	hsa-miR-377	CLIP-seq
MIRT2320224	hsa-miR-4643	CLIP-seq
MIRT2320225	hsa-miR-4652-3p	CLIP-seq
MIRT2095816	hsa-miR-579	CLIP-seq
MIRT1322814	hsa-miR-642a	CLIP-seq
MIRT1322733	hsa-miR-101	CLIP-seq
MIRT2095748	hsa-miR-106a	CLIP-seq
MIRT2095749	hsa-miR-106b	CLIP-seq
MIRT2432851	hsa-miR-1244	CLIP-seq
MIRT2432852	hsa-miR-127-5p	CLIP-seq
MIRT1322739	hsa-miR-128	CLIP-seq
MIRT1322741	hsa-miR-135a	CLIP-seq
MIRT1322742	hsa-miR-135b	CLIP-seq
MIRT1322745	hsa-miR-144	CLIP-seq
MIRT2095755	hsa-miR-17	CLIP-seq
MIRT2432853	hsa-miR-1825	CLIP-seq
MIRT1322823	hsa-miR-199a-3p	CLIP-seq
MIRT2432854	hsa-miR-199a-5p	CLIP-seq
MIRT1322824	hsa-miR-199b-3p	CLIP-seq
MIRT2432855	hsa-miR-199b-5p	CLIP-seq
MIRT2095757	hsa-miR-20a	CLIP-seq
MIRT2095758	hsa-miR-20b	CLIP-seq
MIRT2095760	hsa-miR-217	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT2095762	hsa-miR-302a	CLIP-seq
MIRT2095763	hsa-miR-302b	CLIP-seq
MIRT2095764	hsa-miR-302c	CLIP-seq
MIRT2095765	hsa-miR-302d	CLIP-seq
MIRT2095766	hsa-miR-302e	CLIP-seq
MIRT2432856	hsa-miR-3119	CLIP-seq
MIRT2095769	hsa-miR-3126-3p	CLIP-seq
MIRT1322833	hsa-miR-3129-5p	CLIP-seq
MIRT1322760	hsa-miR-3163	CLIP-seq
MIRT2432857	hsa-miR-320e	CLIP-seq
MIRT2095776	hsa-miR-338-5p	CLIP-seq
MIRT1322837	hsa-miR-3646	CLIP-seq
MIRT2432858	hsa-miR-371-3p	CLIP-seq
MIRT2432859	hsa-miR-371b-3p	CLIP-seq
MIRT2095782	hsa-miR-372	CLIP-seq
MIRT2095783	hsa-miR-373	CLIP-seq
MIRT2432860	hsa-miR-374a	CLIP-seq
MIRT2432861	hsa-miR-374b	CLIP-seq
MIRT2432862	hsa-miR-3943	CLIP-seq
MIRT2432863	hsa-miR-4265	CLIP-seq
MIRT2432864	hsa-miR-4282	CLIP-seq
MIRT2432865	hsa-miR-4296	CLIP-seq
MIRT2432866	hsa-miR-4302	CLIP-seq
MIRT2432867	hsa-miR-4313	CLIP-seq
MIRT2432868	hsa-miR-4322	CLIP-seq
MIRT2432869	hsa-miR-4450	CLIP-seq
MIRT2432870	hsa-miR-4504	CLIP-seq
MIRT1322783	hsa-miR-4539	CLIP-seq
MIRT2320224	hsa-miR-4643	CLIP-seq
MIRT2432871	hsa-miR-4648	CLIP-seq
MIRT2432872	hsa-miR-4654	CLIP-seq
MIRT2432873	hsa-miR-4667-5p	CLIP-seq
MIRT1322785	hsa-miR-4668-3p	CLIP-seq
MIRT1322788	hsa-miR-4699-3p	CLIP-seq
MIRT2432874	hsa-miR-4700-5p	CLIP-seq
MIRT2432875	hsa-miR-4717-3p	CLIP-seq
MIRT2432876	hsa-miR-4725-5p	CLIP-seq
MIRT2432877	hsa-miR-4764-3p	CLIP-seq
MIRT2432878	hsa-miR-4769-5p	CLIP-seq
MIRT2432879	hsa-miR-4803	CLIP-seq
MIRT2432880	hsa-miR-502-5p	CLIP-seq
MIRT2432881	hsa-miR-504	CLIP-seq
MIRT2432882	hsa-miR-515-3p	CLIP-seq
MIRT2095804	hsa-miR-519d	CLIP-seq
MIRT2432883	hsa-miR-519e	CLIP-seq
MIRT2095805	hsa-miR-520a-3p	CLIP-seq
MIRT2095806	hsa-miR-520b	CLIP-seq
MIRT2095807	hsa-miR-520c-3p	CLIP-seq
MIRT2095808	hsa-miR-520d-3p	CLIP-seq
MIRT2095809	hsa-miR-520e	CLIP-seq
MIRT2095810	hsa-miR-520g	CLIP-seq
MIRT2095811	hsa-miR-520h	CLIP-seq
MIRT1322806	hsa-miR-548c-3p	CLIP-seq
MIRT2432884	hsa-miR-549	CLIP-seq
MIRT2432885	hsa-miR-618	CLIP-seq
MIRT2432886	hsa-miR-637	CLIP-seq
MIRT1322814	hsa-miR-642a	CLIP-seq
MIRT2095822	hsa-miR-93	CLIP-seq
MIRT1322739	hsa-miR-128	CLIP-seq
MIRT2095752	hsa-miR-129-5p	CLIP-seq
MIRT2320194	hsa-miR-181a	CLIP-seq
MIRT2320195	hsa-miR-181b	CLIP-seq
MIRT2320196	hsa-miR-181c	CLIP-seq
MIRT2320197	hsa-miR-181d	CLIP-seq
MIRT1322753	hsa-miR-27a	CLIP-seq
MIRT1322754	hsa-miR-27b	CLIP-seq
MIRT1322760	hsa-miR-3163	CLIP-seq
MIRT1322762	hsa-miR-331-3p	CLIP-seq
MIRT1322839	hsa-miR-3679-3p	CLIP-seq
MIRT2320215	hsa-miR-4262	CLIP-seq
MIRT2440001	hsa-miR-4277	CLIP-seq
MIRT2095789	hsa-miR-450b-5p	CLIP-seq
MIRT1322785	hsa-miR-4668-3p	CLIP-seq
MIRT2440002	hsa-miR-4709-5p	CLIP-seq
MIRT2095797	hsa-miR-4719	CLIP-seq
MIRT2440003	hsa-miR-4731-5p	CLIP-seq
MIRT1322791	hsa-miR-4738-5p	CLIP-seq
MIRT1322851	hsa-miR-4773	CLIP-seq
MIRT2095801	hsa-miR-507	CLIP-seq
MIRT2095814	hsa-miR-557	CLIP-seq
MIRT2095816	hsa-miR-579	CLIP-seq
MIRT1322814	hsa-miR-642a	CLIP-seq
MIRT2320244	hsa-miR-664	CLIP-seq
MIRT2095750	hsa-miR-1182	CLIP-seq
MIRT1322746	hsa-miR-15a	CLIP-seq
MIRT1322747	hsa-miR-15b	CLIP-seq
MIRT1322748	hsa-miR-16	CLIP-seq
MIRT1322749	hsa-miR-195	CLIP-seq
MIRT1322823	hsa-miR-199a-3p	CLIP-seq
MIRT1322824	hsa-miR-199b-3p	CLIP-seq
MIRT2320200	hsa-miR-22	CLIP-seq
MIRT2616055	hsa-miR-3064-3p	CLIP-seq
MIRT1322755	hsa-miR-3121-3p	CLIP-seq
MIRT1322833	hsa-miR-3129-5p	CLIP-seq
MIRT1322758	hsa-miR-3140-3p	CLIP-seq
MIRT2616056	hsa-miR-3144-3p	CLIP-seq
MIRT2616057	hsa-miR-3152-3p	CLIP-seq
MIRT1322772	hsa-miR-424	CLIP-seq
MIRT1322774	hsa-miR-4299	CLIP-seq
MIRT1322776	hsa-miR-4447	CLIP-seq
MIRT1322777	hsa-miR-4468	CLIP-seq
MIRT1322778	hsa-miR-4472	CLIP-seq
MIRT2616058	hsa-miR-4488	CLIP-seq
MIRT2616059	hsa-miR-4492	CLIP-seq
MIRT2616060	hsa-miR-4498	CLIP-seq
MIRT1322784	hsa-miR-4658	CLIP-seq
MIRT2616061	hsa-miR-4697-5p	CLIP-seq
MIRT2095797	hsa-miR-4719	CLIP-seq
MIRT1322792	hsa-miR-4758-5p	CLIP-seq
MIRT1322793	hsa-miR-4765	CLIP-seq
MIRT1322800	hsa-miR-497	CLIP-seq
MIRT2095813	hsa-miR-548q	CLIP-seq
MIRT2616062	hsa-miR-576-3p	CLIP-seq
MIRT2095817	hsa-miR-584	CLIP-seq
MIRT1322815	hsa-miR-653	CLIP-seq
MIRT2616063	hsa-miR-762	CLIP-seq
MIRT1322818	hsa-miR-936	CLIP-seq
MIRT1322738	hsa-miR-1279	CLIP-seq
MIRT2616055	hsa-miR-3064-3p	CLIP-seq
MIRT1322755	hsa-miR-3121-3p	CLIP-seq
MIRT1322756	hsa-miR-3124-3p	CLIP-seq
MIRT1322761	hsa-miR-330-3p	CLIP-seq
MIRT1322776	hsa-miR-4447	CLIP-seq
MIRT1322778	hsa-miR-4472	CLIP-seq
MIRT2616058	hsa-miR-4488	CLIP-seq
MIRT2616059	hsa-miR-4492	CLIP-seq
MIRT2616060	hsa-miR-4498	CLIP-seq
MIRT2616061	hsa-miR-4697-5p	CLIP-seq
MIRT2095797	hsa-miR-4719	CLIP-seq
MIRT2095815	hsa-miR-561	CLIP-seq
MIRT1322813	hsa-miR-587	CLIP-seq
MIRT2616063	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CBFB	Unknown	24648201
GATA1	Unknown	16628190
HLF	Repression	11486032
L3MBTL1	Repression	18474616
PITX1	Repression	21425961
RUNX3	Repression	19403666
RUNX3	Unknown	15688019
TLE3	Repression	19403666
TOP2B	Activation	24327541

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	21873977
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	9199349
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	9199349
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	17377532
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001222	Function	Transcription corepressor binding	IPI	9751710
GO:0001223	Function	Transcription coactivator binding	IPI	11742995
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	9199349
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	9199349
GO:0001503	Process	Ossification	IBA
GO:0002062	Process	Chondrocyte differentiation	IBA
GO:0002573	Process	Myeloid leukocyte differentiation	IMP	28111278
GO:0003677	Function	DNA binding	IDA	8413232, 9199349, 12217689
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9199349, 14970218
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	12217689
GO:0005515	Function	Protein binding	IPI	2845103, 9751710, 10207087, 10856244, 11965546, 12217689, 14970218, 16917507, 17377532, 17431401, 18280240, 19497860, 21179004, 21873977, 22253733, 25241761, 25283809, 25678665, 28533407, 29391048, 32296183, 33961781, 34591612, 35914814
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	7862156
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9199349
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0010755	Process	Regulation of plasminogen activation	ISS
GO:0016513	Component	Core-binding factor complex	IEA
GO:0016513	Component	Core-binding factor complex	TAS	18258917
GO:0030097	Process	Hemopoiesis	IBA
GO:0030097	Process	Hemopoiesis	IDA	21873977
GO:0030097	Process	Hemopoiesis	TAS	12217689
GO:0030099	Process	Myeloid cell differentiation	IDA	11742995
GO:0030182	Process	Neuron differentiation	IBA
GO:0030853	Process	Negative regulation of granulocyte differentiation	IMP	9199349
GO:0030854	Process	Positive regulation of granulocyte differentiation	IMP	9199349
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	17377532
GO:0032967	Process	Positive regulation of collagen biosynthetic process	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	10856244
GO:0043371	Process	Negative regulation of CD4-positive, alpha-beta T cell differentiation	ISS
GO:0043378	Process	Positive regulation of CD8-positive, alpha-beta T cell differentiation	ISS
GO:0045595	Process	Regulation of cell differentiation	IBA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9199349, 10207087, 11742995, 14970218
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9199349, 10207087, 14970218, 21873977
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	9199349, 20972335
GO:0046982	Function	Protein heterodimerization activity	IDA	8413232
GO:0048935	Process	Peripheral nervous system neuron development	TAS	20096094
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0060043	Process	Regulation of cardiac muscle cell proliferation	ISS
GO:0061026	Process	Cardiac muscle tissue regeneration	ISS
GO:0071425	Process	Hematopoietic stem cell proliferation	TAS	21873977
GO:0140297	Function	DNA-binding transcription factor binding	IPI	9199349
GO:1903055	Process	Positive regulation of extracellular matrix organization	ISS
GO:1905203	Process	Regulation of connective tissue replacement	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000026	Process	Regulation of multicellular organismal development	IEA

Other IDs

• MIM: 151385
• HGNC: 10471
• e!Ensembl: ENSG00000159216

Protein

• UniProt ID: Q01196
• Protein name: Runt-related transcription factor 1 (Acute myeloid leukemia 1 protein) (Core-binding factor subunit alpha-2) (CBF-alpha-2) (Oncogene AML-1) (Polyomavirus enhancer-binding protein 2 alpha B subunit) (PEA2-alpha B) (PEBP2-alpha B) (SL3-3 enhancer factor 1 a
• Protein function: Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their r
• PDB: 1CMO, 1CO1, 1E50, 1H9D, 1LJM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00853	Runt	51 → 180	Runt domain	Domain
  PF08504	RunxI	362 → 453	Runx inhibition domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.
• Sequence:

  MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPG
  ELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNA
  TAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHR
  QKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQM
  QDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDL
  TAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPG
  SSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLP
  NQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY

• Sequence length: 453

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 bleeding	Pathogenic; Likely pathogenic	rs1569061762, rs1569061786, rs2057541324, rs1601515718, rs1060502579, rs2057998110	RCV001270615 RCV001270576 RCV001270495 RCV001270488 RCV001270534 RCV001270532	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal platelet function	Pathogenic	rs1057519751	RCV000851801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Pathogenic; Likely pathogenic	rs2057541271, rs2145875208, rs759068561, rs1601516118, rs2517440416, rs2517038098, rs1057519750, rs1569084170, rs1601515707, rs1569084106, rs1601333612, rs2058002908	RCV001312236 RCV001376148 RCV005032022 RCV003465901 RCV003228178 RCV004574808 RCV000426735 RCV002499199 RCV002495048 RCV002279704 RCV003234570 RCV005038017	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical chronic myeloid leukemia, BCR-ABL1 negative	Likely pathogenic	rs2516817630	RCV003232902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs2145910195	RCV005926771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clonal Cytopenia of Undetermined Significance	Likely pathogenic	rs1569078784	RCV003153243	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs1601515718	RCV005920594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic	rs2146410280	RCV002257292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	Likely pathogenic; Pathogenic	rs2056458051, rs2057541271, rs2058004321, rs2056453893, rs1555899735, rs2145875208, rs2145910106, rs2146074811, rs2146075609, rs2146076572, rs2146234527, rs2146236515, rs2146410489, rs2146410761, rs2146413580, rs2146413726, rs2056452818, rs914897271, rs1601515718, rs2145907149, rs2145909826, rs2057998063, rs2145878129, rs2145876252, rs2146360319, rs1555884790, rs759068561, rs2145906988, rs2146235121, rs2146074371, rs2146362916, rs1569084082, rs2145906974, rs2146074437, rs2146235138, rs2146075448, rs374341207, rs2146410280, rs2146409966, rs2516814024, rs2517437126, rs2517272238, rs2516822206, rs1569061768, rs2517483215, rs2517037994, rs2516825380, rs2517436589, rs2516818506, rs2517488790, rs2517039436, rs2517037669, rs2517440229, rs2517439168, rs2516812694, rs2145910195, rs2517487922, rs2517440116, rs1601516118, rs2056451263, rs2145910066, rs2516819138, rs2517481120, rs2517440416, rs2516817630, rs2516814422, rs2517486812, rs1601333612, rs2517482498, rs2516820446, rs2146234838, rs2516825700, rs2517040449, rs2517488147, rs2517274485, rs2516819257, rs2516819502, rs2517441155, rs2517481800, rs1569079076, rs1476276192, rs2517485238, rs121912498, rs587776810, rs121912499, rs74315451, rs587776811, rs267607026, rs2517040421, rs2516812393, rs2517273773, rs2517439655, rs2516861944, rs2517040954, rs2516824139, rs2517436265, rs2146408539, rs2517438095, rs2516861844, rs2516815693, rs2516816762, rs2057997150, rs2056578041, rs2517037655, rs2517038098, rs2517040310, rs2146407735, rs2517041902, rs2517040371, rs2517439221, rs2517439152, rs1057519748, rs1057519749, rs1057519750, rs1057519751, rs1060502579, rs1555884845, rs1060499616, rs587776809, rs1555899813, rs1555889984, rs1569001972, rs1569002077, rs1569002159, rs1569002296, rs1569002881, rs1569009004, rs1569037127, rs1569061762, rs1569061786, rs1569061799, rs1569061831, rs1569078774, rs1569078784, rs1569078799, rs1569084032, rs1569084170, rs1569084388, rs1569084451, rs1569084646, rs1569084530, rs1569008655, rs1601415426, rs1601416036, rs1601528701, rs1601515707, rs1601528621, rs1569084106, rs2057541040, rs2057997486, rs2056453972, rs2056577059, rs2057999400, rs2057541324, rs2057998110	RCV002264780 RCV002264779 RCV003448392 RCV004699322 RCV004699326 RCV003448403 RCV002264783 RCV003448404 RCV003405628 RCV003448407 RCV003448405 RCV003448408 RCV002264785 RCV003448406 RCV002264786 RCV002264784 RCV002264820 RCV004699430 RCV005001235 RCV004692726 RCV004692761 RCV003448420 RCV004692766 RCV004699486 RCV004595634 RCV003448422 RCV002264833 RCV004699592 RCV004694016 RCV004693785 RCV004595642 RCV003448447 RCV004700697 RCV003448449 RCV003448450 RCV003448451 RCV003448452 RCV003448453 RCV004595657 RCV003448456 RCV003408207 RCV003448458 RCV004595660 RCV003448480 RCV004595667 RCV003448469 RCV003448467 RCV004595670 RCV004700841 RCV003448470 RCV004595673 RCV003448471 RCV004595674 RCV004700851 RCV004700850 RCV004695285 RCV004700889 RCV004700884 RCV005001341 RCV004700893 RCV003448474 RCV003448475 RCV004719311 RCV005001365 RCV003448491 RCV004701038 RCV005001375 RCV005001377 RCV004701056 RCV005001374 RCV003448648 RCV003448649 RCV004701088 RCV004701089 RCV005001389 RCV005252067 RCV004701729 RCV004701752 RCV005001401 RCV004701758 RCV005001404 RCV004701757 RCV004595486 RCV004700241 RCV004595487 RCV004595488 RCV004595489 RCV004595490 RCV005001413 RCV004701770 RCV004701771 RCV004701773 RCV004595712 RCV005001423 RCV004701778 RCV004701781 RCV005409951 RCV005001424 RCV005001427 RCV004701787 RCV005001426 RCV004701789 RCV004701790 RCV004701821 RCV005001451 RCV005001455 RCV005001468 RCV004595740 RCV004595741 RCV004595742 RCV004595743 RCV004595744 RCV004595745 RCV004595746 RCV004701462 RCV001290697 RCV001290696 RCV001290705 RCV001290699 RCV004701508 RCV004696233 RCV004701526 RCV004595509 RCV004701570 RCV004595515 RCV004595522 RCV004595523 RCV001290701 RCV001290700 RCV001290708 RCV004702312 RCV001197295 RCV001374726 RCV001195666 RCV004595528 RCV001374725 RCV003448335 RCV003448334 RCV001376067 RCV001290692 RCV004997137 RCV001195661 RCV001195652 RCV001374724 RCV002264724 RCV003448333 RCV003448332 RCV001195650 RCV001290702 RCV001197292 RCV001376068 RCV004595532 RCV003448344 RCV002264741 RCV002264733 RCV004702402 RCV002264732 RCV004692253 RCV003448349 RCV001195662 RCV000824708 RCV002264759 RCV002264758 RCV004595572 RCV004595571 RCV003448368 RCV004699188 RCV004695151 RCV002264769 RCV003448386 RCV002264771 RCV003448387 RCV003448388 RCV002264772	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	Likely pathogenic; Pathogenic	rs2056453893, rs1555899735, rs2145910106, rs2146074811, rs2146075609, rs2146076572, rs2146234527, rs2146236515, rs2146410489, rs2146410761, rs2146413580, rs2146413726, rs2056452818, rs2057998063, rs2146360319, rs1555884790, rs759068561, rs2145906988, rs2146235121, rs2146074371, rs2146362916, rs2146076947, rs1569084082, rs2145906974, rs2146074437, rs2146235138, rs2146075448, rs374341207, rs2146409966, rs2516814024, rs2517272238, rs2516822206, rs1569061768, rs2517483215, rs2517037994, rs2516825380, rs2517436589, rs2516818506, rs2517488790, rs2517039436, rs2517037669, rs2517440229, rs2517439168, rs2516812694, rs2145910195, rs2517487922, rs2517440116, rs1601516118, rs2056451263, rs2145910066, rs2516819138, rs2517440416, rs2146234838, rs2517040449, rs2517488147, rs2517274485, rs2516819257, rs2516819502, rs2517441155, rs2517481800, rs1569079076, rs1476276192, rs2517485238, rs587776809, rs74315450, rs121912498, rs587776810, rs121912499, rs74315451, rs587776811, rs267607026, rs2517040421, rs2516812393, rs2517273773, rs2517439655, rs914897271, rs2516861944, rs2517040954, rs2516824139, rs2517436265, rs2146408539, rs2517438095, rs2516861844, rs2516815693, rs2516816762, rs2057997150, rs2056578041, rs1057519748, rs1057519750, rs1057519751, rs1057523598, rs1060502579, rs1555884845, rs1060499616, rs1555899813, rs1555889984, rs1569002881, rs1569061762, rs1569084116, rs1569084170, rs1569084646, rs1569084530, rs1569008655, rs1569061786, rs1601333612, rs1601528701, rs1601515707, rs1569084106, rs1601515718, rs1476636108, rs2057541040, rs2057883934, rs2057997486, rs2056577059, rs2056574456, rs2058002908, rs2057541324	RCV001345771 RCV001349685 RCV001376889 RCV001384326 RCV001380693 RCV001387619 RCV001387019 RCV001387849 RCV001386548 RCV001387047 RCV001390537 RCV001381113 RCV003629190 RCV001869792 RCV001904996 RCV002039239 RCV001949655 RCV001963364 RCV001965204 RCV002033351 RCV002008165 RCV001982958 RCV002024005 RCV002245404 RCV002245413 RCV002245437 RCV002254233 RCV002254234 RCV002264885 RCV002280952 RCV002285101 RCV002291525 RCV002595241 RCV002573638 RCV002828118 RCV002801894 RCV002823682 RCV002828887 RCV002851376 RCV002862143 RCV002861546 RCV002863135 RCV002863808 RCV002893851 RCV003021374 RCV003016883 RCV002996576 RCV003034342 RCV003026488 RCV003047176 RCV003050216 RCV003228178 RCV005100107 RCV003515411 RCV003515504 RCV003513914 RCV003516182 RCV003516290 RCV003514840 RCV003514978 RCV003515226 RCV003515157 RCV003515158 RCV000015549 RCV000015550 RCV000015551 RCV000015552 RCV000015553 RCV000015554 RCV000015557 RCV000015558 RCV003630122 RCV003630265 RCV003630269 RCV003630421 RCV003630414 RCV003630711 RCV003630705 RCV003630725 RCV003630730 RCV003630792 RCV003630915 RCV003630952 RCV003630889 RCV003630986 RCV003630987 RCV003629869 RCV003854252 RCV000824700 RCV001039570 RCV001204199 RCV003448309 RCV000473754 RCV000466387 RCV000477937 RCV000500217 RCV000549717 RCV000639524 RCV000656502 RCV002472312 RCV001078214 RCV000799444 RCV002531413 RCV000824707 RCV002499199 RCV005091981 RCV000692523 RCV001078218 RCV005092221 RCV000793877 RCV000801548 RCV000796520 RCV002549217 RCV003769399 RCV001037580 RCV001078213 RCV001078217 RCV001078212 RCV001078216 RCV001198837 RCV001202518 RCV001213758 RCV001215896 RCV001257572 RCV002280903	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited bleeding disorder, platelet-type	Pathogenic	rs1060499616	RCV001270105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Likely pathogenic	rs2056458051	RCV001312237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1569061768	RCV005231259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancytopenia	Likely pathogenic	rs1569078784	RCV000851806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RUNX1-related disorder	Pathogenic; Likely pathogenic	rs1601516118, rs2517486812, rs1601333612, rs2517482498, rs2516820446, rs1057519748, rs1060499616, rs1569084116, rs1569084170, rs1569061786, rs1476636108	RCV004725467 RCV003416650 RCV003400454 RCV003393038 RCV003414449 RCV003932542 RCV004742442 RCV003389725 RCV003892030 RCV004723162 RCV003396736	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Storage pool disease of platelets	Pathogenic	rs1601415426, rs1601416036	RCV000852220 RCV000851832	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic; Likely pathogenic	rs2058004321, rs1569061762, rs1569061768, rs1060502579, rs1569008655, rs121912499, rs1569061786, rs1569084106, rs1601515718, rs2057541324, rs2057998110	RCV001312234 RCV001003538 RCV001003539 RCV001312235 RCV000851916 RCV000851904 RCV000852167 RCV001003541 RCV001003540 RCV001270495 RCV001270488 RCV001270534 RCV001270532	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2057997150	RCV005934839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs1601515718	RCV005912363	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aggressive systemic mastocytosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic ependymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD PLATELET DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITTS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Castleman-Kojima disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC MYELOID LEUKEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, ANASARCA, FEVER, RENAL INSUFFICIENCY, ORGANOMEGALY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	28676520, 29632235		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10534771, 10594034, 10629103, 10684580, 10717473, 10825008, 10856244, 11566347, 12124316, 12555067, 12604126, 12643014, 12732184, 12771199, 14978794, 15142876, 15156173, 15156187, 15198727, 15988004, 16025155, 17011991, 17532767, 17920312, 17968322, 18192504, 18224409, 19151769, 19357396, 19638627, 20181616, 20682397, 21319259, 21339820, 21725049, 22012064, 22875638, 24123676, 24732596, 25840971, 27620872, 27632978, 28513614, 28662545, 28724437, 30278283, 30396184, 8932329, 9584201		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10049054, 10049055, 10463610, 10551495, 10557042, 10583273, 10756360, 10774753, 10825008, 10914546, 11091202, 11106815, 11129441, 11167742, 11241794, 11378579, 11426627, 11432885, 11455977, 11468150, 11516105, 11529845, 11550288, 11579464, 11587363, 11675129, 11699220, 11726315, 11841400, 11841426, 11960347, 11960348, 12060124, 12091359, 12124316, 12374679, 12433682, 12491511, 12506024, 12550760, 12646943, 12661004, 12800152, 12823350, 12850377, 12874780, 14527352, 14574333, 14695996, 14724653, 15104290, 15120912, 15142881, 15155899, 15156184, 15158091, 15162063, 15181301, 15193447, 15257702, 15356655, 15630450, 15704129, 15718422, 15770827, 15820957, 15837750, 15877731, 15877734, 15878620, 15991223, 16020107, 16026693, 16157196, 16213362, 16278392, 16330447, 16344676, 16493009, 16497975, 16552772, 16584381, 16709928, 16763978, 16914570, 16965388, 16984387, 17015828, 17114960, 17243167, 17284366, 17285576, 17374122, 17380207, 17611665, 17622527, 17690704, 17889709, 18202228, 18206538, 18241254, 18445843, 18557744, 18565891, 18617057, 18635414, 18728978, 18767146, 19010836, 19100516, 19129484, 19158828, 19167608, 19264230, 19579075, 19594616, 19665068, 19672974, 19679565, 19896186, 19998443, 20453109, 20513752, 20701601, 20930648, 21160474, 21482711, 21628403, 21822204, 22076464, 22094584, 22238115, 22382891, 22404039, 22613552, 22897724, 23077088, 23741012, 23996088, 24045615, 24076604, 24241490, 24339741, 24413735, 24473322, 24655352, 24909160, 25273558, 25312094, 25388957, 25612675, 25893288, 26185316, 26264145, 26327566, 26520622, 26580398, 26852652, 27215399, 27239736, 27265895, 27393278, 27536776, 27650541, 28004528, 28063378, 28299658, 28299660, 28395118, 28853218, 29784935, 29883054, 30005852, 30125757, 30381299, 30396184, 30689137, 30986496, 31034759, 31385395, 31429529, 31602594, 31767839, 7492786, 7761424, 7780150, 8667657, 8704188, 8704231, 8751462, 8757516, 8913730, 8982044, 9050885, 9067587, 9078285, 9177434, 9207408, 9226156, 9233588, 9233592, 9234595, 9277052, 9305598, 9665191, 9824651, 9839313, 9845546, 9864173		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15226186, 15561678, 15856017, 16364766, 16628190, 19016745, 19638627, 30278283		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10905055, 12750701, 12760263, 12874780, 15156180, 16254134, 16390317, 1720541, 17394134, 17854666, 18192504, 18206543, 18258796, 19666867, 20460523, 21245488, 21343560, 22012064, 22875638, 24480914, 25798834, 25928846, 27288520, 27851970, 28538183, 28724437, 28751771, 29472719, 29479958, 30251205, 30289875, 30709863, 31023702, 31247675, 31533028, 8427996, 8603012, 8616078, 9234595		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	11721969, 12881486, 16390317, 18068539, 30921216, 7523801, 7794758, 9619731, 9973964		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	18206229, 27798625, 30420649		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with multilineage dysplasia	Myeloid Leukemia With Multilineage Dysplasia	BEFREE	21965128		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	18206229, 27798625, 30420649		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	12393381, 16627249, 19666867, 19773259		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	11566347, 12119214, 17889714, 28513614, 7514241		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11120332, 12200691, 19027486, 20010624, 21268063, 21387358, 28411256, 9009083		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17920312		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27634876		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28926105		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	24756106		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10049054, 10557042, 10756360, 10774753, 11468150, 11516105, 11550288, 11960347, 11960348, 12374679, 12433682, 12646943, 12800152, 12850377, 14527352, 15142881, 15155899, 15162063, 15181301, 15193447, 15356655, 15630450, 15718422, 15770827, 15820957, 15837750, 15878620, 15991223, 16020107, 16213368, 16330447, 16493009, 16497975, 16709928, 17015828, 17114960, 17243167, 17380207, 17611665, 17889709, 18445843, 18565891, 18617057, 18635414, 18728978, 18767146, 19129484, 19167608, 19579075, 19594616, 19665068, 19672974, 19679565, 19896186, 19998443, 20930648, 22058208, 22076464, 22094584, 22238115, 22382891, 22613552, 22897724, 23996088, 24045615, 24076604, 24473322, 24909160, 25388957, 26264145, 26852652, 27215399, 27239736, 28395118, 28853218, 30005852, 30125757, 30396184, 31034759, 31385395, 31429529, 7492786, 8704188, 8704231, 9067587, 9078285, 9277052, 9305598, 9332479, 9665191, 9839313		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	12760263, 16390315, 20051780, 20376082, 22912405, 25903924, 28735486		★☆☆☆☆ Found in Text Mining only
Aggressive systemic mastocytosis	Systemic Mastocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	15613106		★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	BEFREE	15613106		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	15613106		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37774680, 40037709	Associate	★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	18815194		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	37160316	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29434723		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	36321611	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25993293	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	37175670	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	11328281		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25540605	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22449398, 32831971, 35304503	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16519819	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	17079875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	12466963		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	20861459	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35304503	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	25289940	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	14608357, 15184985, 16249223, 16821265, 17079875, 26919255		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16249223, 35220890	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10950938, 24394348		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23674219		★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	27997762	Associate	★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	19808697, 22915647, 24611505, 37558665	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25656571		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	18202228, 32366154, 33990592	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	11566347, 15326310, 18202228, 20855863, 21504717, 24098673, 31640815, 8171026, 8395054, 8490181, 9183665, 9234595, 9432037		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	11675361, 11830488, 12495904, 12604126, 14594802, 15741216, 18166807, 18173751, 18478040, 18723428, 19357396, 20578134, 20876458, 21268063, 21671372, 21725049, 22677128, 22898599, 23848403, 24853048, 26021490, 26164464, 27112265, 28181366, 28299663, 28513614, 28637620, 28659335, 29666006, 29883054, 30083851, 31124578, 31648317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet disorder	Pubtator	20181616, 20876458, 21129147, 22898599, 24606315, 24853048, 27112265, 27997762, 29632235, 30545930, 33560381, 36736831, 37738626	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Marrow Diseases	Bone marrow diseases	Pubtator	28659335, 35427424	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	25239263, 29463756	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	23199169		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28443460		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	34440820	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12183414, 22024923, 24935473, 26735887, 26749280, 26916619, 26920143, 27514584, 28055379, 28238063, 28299668, 28407681, 29581836, 30082484, 30086788, 30515788, 30592274, 31061501, 31497347		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20169162, 28407681, 31919859	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22024923, 24036662, 24337772, 24967588, 26920143, 27428424, 27514584, 28055379, 28590426, 28747748, 31757997, 32506995, 33191115, 38235137	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	ORPHANET_DG	23491079		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	27056890		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22024923, 22158627, 23569218	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30662000		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	24756106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17094378	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31646558	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	28338653	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	30793508	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	35477749	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25656571		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29914443, 31650885		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23442798, 32142859, 37817210	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35197278, 36302831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24783204, 34294773	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31739630, 33070555, 33932757	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	15604243		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23442798, 25562167, 8932329		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	GWASDB_DG	20975947		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27566955		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27566955	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26546613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Diseases	Central nervous system disease	Pubtator	21822204	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10023677, 10049054, 10049061, 10451708, 10463610, 10557042, 10641030, 10756360, 10774753, 10910927, 10992297, 11106814, 11129441, 11157492, 11241794, 11289124, 11297764, 11378579, 11468150, 11516105, 11550288, 11559948, 11699220, 11801462, 11960347, 11960348, 12040444, 12042710, 12091359, 12374679, 12393286, 12433682, 12491511, 12526921, 12621238, 12646943, 12800152, 12850377, 14525776, 14527352, 15104290, 15142881, 15155899, 15162063, 15181301, 15193447, 15328172, 15356655, 15356660, 15630450, 15642392, 15718422, 15770827, 15820957, 15837750, 15878620, 15991223, 16020107, 16191436, 16330447, 16344676, 16424874, 16493009, 16497975, 16630339, 16709928, 16875937, 17011991, 17015828, 17049456, 17114960, 17243167, 17284366, 17380207, 17611665, 17889709, 17889714, 18068536, 18181181, 18445843, 18565891, 18617057, 18635414, 18665825, 18728978, 18767146, 19047175, 19081626, 19129484, 19167608, 19287094, 19570513, 19579075, 19594616, 19665068, 19672974, 19679565, 19875970, 19890372, 19896186, 19927343, 19998443, 20061556, 20211010, 20513752, 20658612, 20713965, 20930648, 21152005, 21173572, 21482711, 21869842, 21900195, 22028862, 22076464, 22094584, 22238115, 22382891, 22404039, 22528566, 22531296, 22613552, 22748822, 22897724, 22912405, 23704093, 23996088, 24045615, 24076604, 24413735, 24473322, 24870754, 24909160, 25150625, 25244981, 25355294, 25388957, 25764068, 25893288, 26264145, 26580398, 26625756, 26711002, 26852652, 27215399, 27239736, 27341996, 27560110, 28202519, 28395118, 28418909, 28500740, 28853218, 29148893, 29778230, 30005852, 30115129, 30125757, 30341373, 30396184, 30944321, 31034759, 31385395, 31429529, 7492786, 8609706, 8667657, 8704188, 8704231, 8751462, 8943861, 9031076, 9067587, 9078285, 9177434, 9226156, 9260050, 9264373, 9277052, 9305598, 9332479, 9372085, 9389711, 9473238, 9498702, 9652733, 9664088, 9665191, 9738986, 9839313, 9844930, 9845546		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	17255265		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	11033733, 11986239, 12764380, 16390315, 20051780, 24523240, 24920269, 25066867, 25903924, 28085746, 28735486, 9652733		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	21803869		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31015363	Associate	★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	25575569		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27393278, 29672642		★☆☆☆☆ Found in Text Mining only
Chronic myeloid leukemia	Myeloid Leukemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	11376807, 15477599, 17901249, 19850737, 20339092, 23751892, 24240679, 24297870, 25066130, 25504228, 26697989		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	10962029		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	26628061	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22161860, 27566955		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21088106		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21088106	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21088106, 22161860, 27798886, 30249397, 31370857		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21088106, 21365634, 27566955, 28376129, 28675510, 32866710, 33462242, 34376784, 35534796	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	29345621	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	BEFREE	23443295		★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	29146883, 37391485	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10602411, 11167742, 12491511, 12732184, 14527352, 14726384, 15104277, 16364766, 1698479, 17230064, 18633615, 20409752, 21937700, 22404039, 22461472, 23877199, 24870754, 26333776, 27215399, 27252013, 28349830, 28637620, 29872884, 8453103, 8668214, 9233592, 9389711, 9596646		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	12477275		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	27549381		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24783204, 31592165		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30397350		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	37406166	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	31773180		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31113964		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	29107070		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31626638, 32573975	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23028138, 23626757, 33902539	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14617032, 16821265		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23626757		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	32573975	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34735495	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10756360, 11023523, 11516105, 12874780, 15068251, 15193435, 15770827, 15856017, 16020107, 16364766, 16492768, 16628190, 16965388, 17485549, 17901249, 18068539, 18202228, 18487507, 18557744, 19357396, 19638627, 19890372, 20442364, 20697343, 20946940, 22221250, 22693452, 23751892, 26947932, 27618722, 31385395, 9177434		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	11023523, 16965388, 18202228, 19357396, 21527530, 25701644, 27134169, 27618722, 28590426, 30989628, 31385395, 32861879, 33001180, 33633844, 34795060, 36625318, 38513239	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17043020, 18202228		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	18487507, 19638627	Inhibit	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	18478040		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	27210295		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	20578134, 26947932		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	15604243, 16175655, 16867868, 24756106		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16175655, 16867868, 18061438, 19384951, 2115646, 8932329		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37612452	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26134036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	26134036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	BEFREE	22403058		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35839075	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	21493867		★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Pubtator	18925961	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	31773180		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23442798		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	20308320		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25486427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	21642993		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22751462, 25486427		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22751462	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22865593, 32662828	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	20651033, 22081516		★☆☆☆☆ Found in Text Mining only
Familial platelet disorder with associated myeloid malignancy	Platelet Disorder with Associated Myeloid Malignancy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12750298, 21325596, 21626672, 29759484, 30110632		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	LHGDN	18622412		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	21325596, 37391485	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	12750298, 21325596, 21626672, 29759484, 30110632		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34063472	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30787418, 31635436		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	29759484		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	27566955	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	36681091	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26693794	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	23582323		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22000015, 25903924, 28012022, 34440820, 34895074, 36949071, 37357610, 38286983	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	22440258, 28443460, 31754093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	23582323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	22440258, 25903924, 28443460, 31754093		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	23582323		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21493867, 27434586, 28012022		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34088969	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34440820, 35534796, 36321611, 36776876	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20578134, 21626672		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	26919255, 31404120		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	27869314		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	34262023	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	35220890	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21723253	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22318994, 33001180	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	10648391, 32544910	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12002768, 12529654, 12874780, 14556655, 15061191, 15193435, 15334552, 16357831, 17145882, 19167608, 19385966, 19773259, 22021368, 22677128, 23102734, 23971860, 24732596, 26674644, 26910834, 27365488, 27819178, 28179279, 28299658, 28299663, 28534116, 29055018, 30439701, 31497347, 31648317, 9652733, 9839313		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	12002768, 12874780, 19167608		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	19773259, 22102704, 25879624, 26910834, 27365488, 28536267, 28659335, 29365323, 31648317, 32299907, 32315381, 33950983, 34019812, 34082071, 34424323, 34570179, 35644277, 36519321, 37406166, 37581927, 37738626, 38019014, 7780150	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	22024923	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	11675129, 21671372, 22201794		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	10049061, 22024923, 22102704, 24752773, 25263451, 25879624, 28299649, 28299651, 28536267		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	36321611	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	24100448, 34424323	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33890726	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	23242576		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	29089446, 29457550		★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	24912843		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	29089446, 29457550		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34987319	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23492767	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29016733		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27450272		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36754216	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	27288310		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31729468		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	18478040		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20578134		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32659941	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	32659941	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31015363		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	40635108	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	12937148		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	30796134		★☆☆☆☆ Found in Text Mining only
Isolated delta-storage pool disease	Isolated Delta-Storage Pool Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	LHGDN	17935781		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	18925961, 19282830, 22677128, 25840971, 29883054, 9432037, 9447818		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457647		★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	12732181		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	25994056, 35534796	Associate	★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	17255265		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10049055, 10068652, 10084082, 10086725, 10508512, 10533284, 10634640, 10867128, 11023523, 11049997, 11105899, 11167742, 11179664, 11261327, 11264187, 11274424, 11283671, 11378579, 11468150, 11526243, 11587363, 11721958, 11721960, 11792409, 11830488, 11867721, 11908737, 11934867, 12002768, 12040444, 12042710, 12048236, 12072207, 12082639, 12086889, 12091359, 12124316, 12183414, 12217689, 12374679, 12381450, 12473597, 12495904, 12555067, 12604126, 12643014, 12732182, 12771199, 12800152, 1434816, 14556655, 14574333, 14633779, 14695990, 14695996, 14726384, 15061191, 15138996, 15156182, 15156185, 15156186, 15184985, 15197237, 15203284, 15298716, 15334552, 15339695, 15356660, 15477599, 1552747, 15561678, 15621809, 15621811, 15650049, 15723339, 15770827, 15826831, 15856017, 15863202, 1593910, 15991223, 16015645, 16020107, 16025155, 16080796, 16191436, 16250015, 16254134, 16278392, 16281942, 16294039, 16390318, 16627249, 16628190, 16791271, 16892037, 16926135, 16965388, 17011991, 17015828, 17043020, 17197433, 17244685, 17332359, 17355962, 17503961, 17533375, 17611665, 17622527, 17657222, 17823240, 17889714, 17956600, 17961830, 17989718, 17996649, 18156164, 18224409, 18271940, 18288568, 18328947, 18511808, 18671852, 18724045, 18790797, 18952841, 19010836, 19016745, 19047175, 19183565, 19287094, 19385966, 19440970, 19570513, 19773259, 19826043, 19890372, 19891700, 20008790, 20453109, 20487545, 20583973, 20658612, 20708017, 20807887, 20875871, 20876458, 21168207, 21339820, 21414819, 21628403, 21822204, 21836608, 22021368, 22028862, 22094587, 22201794, 22261333, 22289984, 22308476, 22318203, 22366949, 22443175, 22461642, 22661044, 22912405, 23344057, 23352661, 23426948, 23613270, 23645839, 23727242, 23741012, 23772668, 23813439, 23817177, 24055056, 24123676, 24130502, 24342949, 24413735, 24523240, 24695740, 24792891, 25066130, 25490895, 25760953, 26060100, 26111797, 26137961, 26165235, 26214469, 26333776, 26361793, 26449661, 26580584, 26666262, 26674644, 26745853, 26919255, 27215399, 27341996, 27346355, 27428424, 27460334, 27650541, 27819671, 27869314, 28043811, 28129329, 28213513, 28299657, 28299659, 28299660, 28299663, 28299675, 28349830, 28360416, 28395118, 28407681, 28475434, 28490659, 28530640, 28536267, 28542718, 28611288, 28650479, 28724437, 28741798, 28854978, 29018080, 29052866, 29156756, 29249175, 29264741, 29408281, 29438697, 29493383, 29518627, 29721072, 29784935, 29883054, 30157851, 30300583, 30381299, 30719500, 30986496, 31119862, 31139783, 31602594, 31640815, 31664040, 31699991, 31845480, 7478604, 7533526, 7573123, 7739522, 7794758, 8313895, 8565077, 8570222, 8609706, 8622955, 8656673, 8668214, 8704231, 8781439, 8822938, 8834231, 8943060, 8982044, 9009083, 9116279, 9183665, 9188573, 9207408, 9233771, 9234595, 9432037, 9447828, 9539781, 9596646, 9619838, 9738986, 9753074, 9823952, 9834202		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10068652, 10419898, 10861016, 10882117, 11001911, 11023523, 11049997, 11090081, 11742995, 11830488, 11867721, 12048236, 12086872, 12427969, 12480707, 12576332, 12791658, 15650049, 15729358, 15731354, 15908787, 16080796, 16141323, 16630339, 17095626, 1720541, 17325341, 17374122, 17488665, 17956600, 17996649, 18202228, 18271940, 18316480, 18487507, 18511808, 18635414, 18687517, 18790797, 19001502, 19047175, 19665068, 19773259, 19826043, 19890372, 20060365, 20807887, 20876458, 21339820, 21670465, 21738341, 21953510, 22028862, 22308476, 22343733, 23321683, 23352661, 23865046, 23970379, 24055056, 24240203, 24241490, 24413735, 24523240, 24646888, 25137060, 25242324, 25490895, 25928846, 26137961, 26214469, 26333776, 26429121, 26546158, 27118388, 27144550, 27428424, 27486062, 27709797, 27851970, 28129329, 28272704, 28349830, 28387584, 28407681, 28536267, 28611288, 28854978, 29192243, 29290585, 29672642, 29674693, 30157851, 30381299, 30593567, 30792202, 30825516, 31476588, 31792411, 31869378, 31952221, 32118299, 32216001, 32371361, 32870501, 32871587, 33218352, 33483506, 33542097, 33560381, 33911178, 34262023, 34551306, 34597466, 35644277, 35945623, 35981137, 36291567, 36411286, 36581344, 36820913, 36930401, 37500075, 37581927, 37922452, 37989463, 38513239, 8171026, 8353289, 8453103, 8490181, 8639850, 8700862, 8822938, 8943060, 9199349, 9539781, 9596646, 9738986	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11792409, 11830488, 11979742, 12082641, 14523475, 15704129, 15723339, 16628190, 16914570, 17015828, 17043020, 17690704, 17956600, 18202228, 18790797		★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	23971860	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	28255023, 36094848	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	10188872, 16532439, 18687517, 18809762, 26671595, 28536267, 28926105, 32544910, 8639909, 8643684, 9763573	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10068652, 10520027, 10611307, 10845943, 10861016, 11023523, 11090081, 11113190, 11122105, 11150306, 11463839, 11675361, 11830488, 11867721, 11986239, 12393381, 12393679, 12406909, 12427969, 12760263, 12842988, 15142876, 15326310, 15650049, 15705784, 15729358, 15731354, 15741216, 15988144, 16254134, 16354839, 16532439, 16630339, 16803898, 16803958, 1698479, 1720541, 17244680, 17431130, 17485549, 17488665, 17550866, 17560011, 17650443, 17976525, 17996649, 18202228, 18316480, 18469864, 18487507, 18519037, 18687517, 18723428, 18724045, 18790797, 18809762, 19001502, 19144660, 19357396, 19463768, 19638627, 19666867, 19734423, 19773259, 19808697, 19826043, 19901261, 20181616, 20430957, 20589720, 20678218, 20682397, 20805992, 21148331, 21198299, 21275954, 21325596, 21339820, 21738341, 22012064, 22024923, 22138511, 22308476, 22343733, 22371884, 22535592, 22581002, 22689681, 22753902, 22898599, 22912701, 22915647, 22923494, 22936064, 22950073, 22983443, 23091311, 23102703, 23321683, 23492767, 23616623, 23744730, 23806810, 23865046, 23877199, 23878140, 23971860, 23996483, 24055056, 24300456, 24314118, 24327541, 24449212, 24523240, 24606315, 24616160, 24853048, 24897507, 24973361, 25022553, 25082877, 25101977, 25252869, 25652455, 25715404, 25734857, 25879624, 25928846, 26021490, 26110659, 26375248, 26546158, 26635039, 26706848, 26721895, 26802049, 26899600, 26910834, 26990877, 27112265, 27210295, 27231175, 27276256, 27288520, 27486062, 27620872, 27632978, 27667292, 27725192, 27843138, 27851970, 27992414, 27997762, 28030795, 28070990, 28114278, 28166825, 28191887, 28349830, 28513614, 28536267, 28538183, 28611288, 28659335, 28933735, 29192243, 29688850, 29764005, 29932212, 30050054, 30157851, 30289875, 30383631, 30545930, 30593567, 30637949, 30709863, 30728457, 30792202, 30959925, 31048839, 31207577, 31533028, 31554635, 31638252, 31648317, 31648321, 31826021, 31869378, 31896782, 31899799, 32091281, 32092139, 32208489, 32232485, 32238878, 32299907, 32315381, 32419364, 32460028, 32476595, 32699322, 32732356, 32757686, 32871587, 33019444, 33054115, 33152396, 33161783, 33166403, 33208771, 33255417, 33433047, 33483506, 33491606, 33545056, 33560381, 33649342, 33784904, 33836581, 33894142, 33911178, 33950983, 33961561, 33971010, 33973643, 34010414, 34051812, 34059800, 34075404, 34312685, 34448812, 34551306, 34601571, 34921223, 34975010, 35303493, 35490198, 35549661, 35644277, 35708137, 35765876, 35832114, 35933982, 36077220, 36087091, 36164709, 36215477, 36232714, 36261576, 36291567, 36333583, 36442087, 36645547, 36736831, 36796022, 36809862, 36820913, 36833323, 36861732, 37120689, 37216686, 37289016, 37458189, 37833543, 37925056, 38019014, 38071734, 38084551, 38146893, 38299584, 39201354, 39271940, 39361146, 39535162, 40225162, 7972130, 8171026, 8353289, 8427996, 8453103, 8490181, 8499624, 8639850, 8822938, 8916934, 9192636, 9584201, 9724795, 9753074, 9819405	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11264187, 32071087	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27903959	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	18925961, 22138511, 23065512, 24595958, 26648538, 27385790, 29728305, 35236051, 39337700	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	20955399	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11090081, 33019444	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10068652, 10338004, 10371506, 10383127, 10508512, 10611307, 10677531, 10684580, 10825008, 10845943, 10861016, 10905055, 10906759, 11001911, 11023523, 11090081, 11106827, 11107447, 11150306, 11165321, 11167739, 11283671, 11334611, 11355922, 11463839, 11526243, 11587363, 11697505, 11721451, 11830488, 11850074, 11867721, 11890995, 11896540, 11921279, 11986246, 11986950, 12060124, 12086889, 12091906, 12101243, 12139729, 12374679, 12393465, 12393523, 12393679, 12496475, 12529654, 12560229, 12604126, 12732184, 12750701, 12760263, 12823350, 12874780, 12881486, 12895392, 12930314, 12944913, 1423235, 1427868, 14562119, 14594802, 14615365, 14686496, 15024077, 15061191, 15142876, 15152269, 15156180, 15156181, 15188461, 15197237, 15198355, 15203284, 15291357, 15295650, 15298716, 15326310, 15477599, 15489901, 1552747, 15551097, 15611635, 15613106, 15621811, 15667533, 15705784, 15731354, 15735013, 15741216, 15815715, 15820957, 15988004, 15988144, 16015645, 16254134, 16266896, 16281072, 16294039, 16357831, 16380455, 16390315, 16390317, 16393685, 16424869, 16627249, 16645213, 16843110, 16858696, 16892037, 16938118, 16990778, 17017876, 1720541, 17234761, 17244685, 17284535, 17361223, 17389244, 17394134, 17485549, 17533375, 17550866, 17575132, 17657222, 17854666, 17875504, 17889714, 17898786, 17934489, 18037406, 18068539, 18156164, 18173751, 18183572, 18192504, 18200041, 18202228, 18206543, 18258796, 18469864, 18478040, 18487507, 18665825, 18723428, 18724045, 18790797, 18832181, 18853425, 19001502, 19016745, 19167608, 19167612, 19282830, 19334039, 19357396, 19377049, 19414191, 19458628, 19666867, 19731081, 19734423, 19737652, 19760607, 19808697, 19826043, 19830829, 19891700, 20023702, 20051780, 20064152, 20444543, 20460523, 20578134, 20688956, 20694842, 20708017, 20804918, 20878158, 20931398, 20958258, 20967878, 21198299, 21245488, 21252984, 21262832, 21268063, 21294243, 21316759, 21325596, 21325813, 21339757, 21343560, 21380778, 21387358, 21447743, 21626672, 21725049, 21836608, 21881046, 21937700, 22012064, 22024923, 22162288, 22196957, 22201794, 22261333, 22289984, 22343733, 22371884, 22451420, 22493267, 22571758, 22613795, 22641217, 22661044, 22674490, 22677128, 22689058, 22689681, 22740448, 22867997, 22871474, 22875638, 22898599, 22919028, 22923494, 22936064, 23102734, 23223432, 23262180, 23321683, 23380602, 23535063, 23582033, 23613269, 23616623, 23673926, 23713453, 23812420, 23812588, 23877199, 23878140, 23958918, 24002588, 24055056, 24064250, 24130502, 24191913, 24314118, 24342949, 24402164, 24415537, 24449215, 24480914, 24487413, 24616160, 24655352, 24732596, 24853048, 24897507, 24912843, 24973361, 25066867, 25287662, 25596267, 25612675, 25798834, 25860287, 25879624, 25886910, 25903924, 25928846, 26060100, 26110659, 26126967, 26212328, 26333776, 26361793, 26374622, 26384344, 26449661, 26496831, 26546158, 26563884, 26590920, 26666262, 26802049, 26837761, 26947932, 27076172, 27137476, 27210295, 27231175, 27252013, 27288520, 27346355, 27512117, 27667292, 27725192, 27770540, 27819671, 27851970, 27888632, 27899806, 27903959, 28114278, 28166825, 28213513, 28297624, 28299658, 28299661, 28299663, 28322996, 28349830, 28360416, 28373471, 28381396, 28411256, 28490659, 28530640, 28538183, 28539478, 28596089, 28611288, 28693140, 28724437, 28735486, 28751771, 28895127, 28903318, 28915648, 28927163, 28933735, 28993357, 29025598, 29156756, 29181548, 29192243, 29224995, 29249175, 29264741, 29296785, 29399155, 29441563, 29472719, 29479958, 29493383, 29666006, 29721072, 29725413, 29764005, 29872884, 29883054, 29904089, 30050054, 30073149, 30076280, 30093396, 30150206, 30157851, 30194712, 30233681, 30251205, 30289875, 30300583, 30396184, 30439701, 30545930, 30623623, 30637949, 30654457, 30706625, 30709863, 30792202, 30921216, 30959925, 30989185, 31023702, 31048839, 31207577, 31247675, 31425924, 31524877, 31533028, 31638252, 31648317, 31688618, 31691804, 31756777, 31808891, 31826021, 7478604, 7507193, 7514242, 7522291, 7523801, 7533526, 7568078, 7577620, 7647375, 7651838, 7769841, 7794758, 7812194, 7828132, 7862157, 7869765, 7972130, 8086341, 8142622, 8164679, 8171026, 8313895, 8402610, 8427996, 8453103, 8455949, 8499624, 8570222, 8585955, 8609706, 8616078, 8780746, 8876234, 8901586, 8943060, 9009083, 9054947, 9234595, 9250799, 9432037, 9432044, 9458083, 9491326, 9579874, 9589800, 9737700, 9819404, 9861236, 9973964		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	10508512, 19357396, 24374719, 24616160, 24659740		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	11921279, 11986950, 12496475, 12699896, 12760263, 14562119, 14615365, 15061191, 15203865, 17485549, 17533375, 17550866, 17625612, 17854666, 17889714, 18192504, 18206548, 18656694		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	18206229, 27798625, 30420649		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	27069254		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	15339695, 20421268		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	18925961, 19282830, 22138511, 22677128, 25840971, 29728305, 29883054, 31640815		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	18815194, 29733873		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21822204		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	27210295, 31203998		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17094378, 26096009, 31289995		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33560381	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	22551552, 28990531		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28926105, 29914443, 33407425	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12402038, 15184985, 16249223		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	30383631	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	30383631		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	18671852, 21606161, 21822204, 26185316, 28004528, 9209363, 9234595		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23298878, 24574234, 27056890, 9188573		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24574234, 38172714	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	7761424	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	10463610, 15155899, 16044150, 17015828, 21628403, 8943861, 9539781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12183414, 21873240, 22024923, 24935473, 26735887, 26749280, 26916619, 26920143, 27514584, 28055379, 28238063, 28299668, 28407681, 29581836, 30082484, 30086788, 30515788, 30592274, 31061501, 31497347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19384951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	GWASDB_DG	21642993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25486427		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	25994056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29914443, 31650885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23813439, 8932329		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29245924		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17909013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20735389, 25537508, 29328406, 29465000		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30515788		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15386419, 16964375, 24388988, 26716895, 28835317, 29686309, 29922087		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25656571		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10950938, 11023523, 11355922, 11675361, 11916518, 12242670, 12529654, 12551823, 12781447, 14630078, 15156182, 15162063, 15561678, 15741216, 16026782, 16493009, 16799637, 16867868, 16964375, 17485549, 18166807, 18202291, 18478040, 18724045, 19414342, 19570513, 19731081, 20169162, 20308320, 20580290, 21057539, 21294243, 21828118, 22366949, 22753902, 23034403, 23582033, 23813439, 25263451, 25884336, 26021490, 26496831, 27112265, 27210295, 27450272, 27566955, 27798886, 28499703, 28926105, 28990531, 29055018, 29686309, 29883054, 29938858, 30083851, 30515788, 30592274, 30719500, 31015363, 31124578, 31157932, 31203998, 31370857, 31497347, 31592165, 31634421, 31640815, 7780150, 8834231, 9596646, 9652733		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22161860, 27566955		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20169162, 26735887, 28407681		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	31004601		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	35765876	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	23958953, 27214377, 28424161, 30152525, 30373888, 31151985, 31509472, 33391475, 35765876, 37309222	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	17976525, 22145956, 27416984, 29341334		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12466963, 29422114, 30046005		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29422114, 34673281	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20578134		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	10825008, 11261327, 11721451, 18192504, 21294243, 25612675, 9009083		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36625318	Stimulate	★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	20682397		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	26514544		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	34376784	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12560229		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12560229	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31498483		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36754216	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	14615365, 15142876, 15705784, 21325596, 21606161, 24853048, 24903747, 26671595, 28693140, 31203998, 7828132, 8171026, 8395054, 8622955, 8695798, 8932329, 9009083		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10534769, 10641791, 10825008, 11049997, 11165321, 11261327, 11721451, 11867721, 11986246, 12002768, 12393679, 12874780, 14615365, 15138996, 15142876, 15156182, 15180860, 15325092, 15613106, 15705784, 15988144, 16390315, 16467864, 17017876, 17485549, 17533375, 17910630, 18192504, 18200041, 18202228, 18723428, 18724045, 19016745, 19167608, 19334039, 19808697, 20064152, 20592488, 21268063, 21294243, 21325596, 21606161, 21671372, 21836608, 22201794, 22533337, 22689681, 22919028, 23471304, 24414704, 24523240, 24732596, 24853048, 24903747, 24953053, 25504228, 25611784, 25612675, 25645650, 25840971, 26384344, 26671595, 27076172, 27137476, 27210295, 27418648, 28299658, 28299663, 28693140, 29672642, 30157851, 30328139, 30706625, 31203998, 31738830, 31808891, 31840280, 7828132, 7845018, 8171026, 8395054, 8695798, 8932329, 9009083, 9234595, 9401077, 9432037, 9783804		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	14615365, 15613106, 15705784, 17017876, 17533375, 17910630, 17935781, 18192504		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	27992414		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11023523, 11049997, 11867721, 12393679, 15988144, 16532439, 17485549, 17910630, 17976519, 18202228, 18724045, 19144660, 19569249, 19808697, 20678218, 21714648, 22012064, 22102704, 22533337, 22571758, 22689681, 23971860, 24220272, 24523240, 25092778, 25239263, 27418648, 27527853, 27881874, 27884971, 27992414, 28659335, 28933735, 29417633, 29672642, 30157851, 30222780, 30328139, 30787430, 31804030, 31808891, 31964915, 32299907, 32315381, 32397113, 32476595, 33166403, 33200495, 33679746, 33730109, 35396491, 35505182, 36054881, 36261576, 36380727, 36629404, 36736831, 37391485, 37558665, 37584291, 38146893, 38299584, 39201354, 40188457, 40269371, 40593493, 40635108, 8171026, 9763573	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	20421268, 21268063		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	15613106, 17901249		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	10641791, 11283671, 11526243, 11587364, 11869944, 12393465, 14615365, 1570317, 15856017, 16007221, 17043020, 18332109, 22714999, 23613270, 24912843, 28637620, 28926105, 29438697, 31004601, 7530657, 7598688, 7605990, 8632911, 8667656, 9209371, 9209372, 9473235, 9498702, 9652733, 9763573		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	17975013		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11965542, 15156182, 15820957, 17575132, 18068536, 18202228, 18767145, 19016745, 21504717, 22318203, 24098673, 31640815, 8171026, 8313895, 8395054, 8490181, 8656673, 8867720, 8982044, 9067587, 9209439, 9234595, 9277052, 9432037, 9458083, 9834202		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	15339695		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	ORPHANET_DG	22318203		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	23673926		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	11376807, 15477599, 19850737, 20339092, 21268063, 22201794, 23751892, 24297870, 25066130, 9447818		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	24595958, 29728305	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27566955, 29030345, 31766975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	LHGDN	16892559		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10641791, 10906759, 11587364, 12466963, 12555067, 12643014, 12732181, 15162063, 15604243, 15878620, 15988004, 16325352, 16867868, 17094378, 19167608, 20169162, 20308320, 20497575, 20580290, 20651033, 20735389, 21088106, 21268063, 21294243, 21339757, 21346257, 21640801, 21723253, 21836608, 21873240, 22024923, 22366949, 22461642, 22677128, 23034403, 23045283, 23223432, 23442798, 23751892, 24388988, 25263451, 26590920, 26716895, 26910834, 26916619, 27056890, 27076172, 27231175, 27389055, 27486062, 27514584, 27566955, 28055379, 28213513, 28238063, 28299658, 28304148, 28443460, 28490659, 28530640, 28611288, 28790107, 28807942, 28926105, 29408281, 29666006, 29733873, 29872884, 30082484, 30110632, 30278283, 30419346, 30515788, 30792202, 31289995, 31309983, 31423253, 31593471, 8632911, 9188573, 9372085, 9664088		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	27210295		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15147374, 16380455, 27197573, 28567073		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	15142876, 15705784, 18723428, 21325596, 22950073, 24853048, 26671595, 32091281, 39201354, 8171026	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21640801		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	26073082		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	26073082		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	12781447, 15988004, 26073082		★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	24523240, 33166403, 33894142	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30349386		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31635436		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28338653		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29523306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	32188105, 33902539	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26916619, 28055379		★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	31769548		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37335694	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31711673		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	8932329		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	23442798	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17072347		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	8932329		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23200915, 29445078, 35867729	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29245924		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29245924		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35197278	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	18192504, 19016724, 25066130		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancytopenia	Pancytopenia	LHGDN	18192504		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancytopenia	Pancytopenia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	BEFREE	28965931		★☆☆☆☆ Found in Text Mining only
Parkinson Disease 12	Parkinson disease	Pubtator	10774753, 11841400, 18241254, 26580398, 7492786, 9207408, 9226156, 9233592	Associate	★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	22869879	Associate	★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28400392		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	19020999	Associate	★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	UNIPROT_DG	10508512		★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	CLINVAR_DG	10508512, 11830488, 12060124, 17290219, 19357396, 19387465, 20549580, 20846103, 22318203, 23817177, 23848403, 24353905, 25840971, 26175287, 27112265, 28513614, 28748566, 28960434, 30990344		★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	CLINGEN_DG	10508512, 10856244, 11830488, 14630789, 14966519, 25114263, 25139854		★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	GENOMICS_ENGLAND_DG	10508512, 18478040, 27069254, 9746808		★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	ORPHANET_DG	11830488, 18723428		★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	BEFREE	18671852, 24732596, 31698193		★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	15061191, 28075530		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	26073082		★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	31773180		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31773180		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	24297870		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	20339092, 23538339		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	20339092	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	23538339	Associate	★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	12127395, 18928518, 22531296, 30986496		★☆☆☆☆ Found in Text Mining only
Precursor B-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	11167743, 11426627, 11841400, 12124316, 12526921, 12571459, 12850377, 14726384, 15235109, 16627258, 17015828, 17889709, 18005092, 18815194, 18928518, 21869842, 23491079, 26111797, 26907657, 27540136, 28349830, 28692033, 8982044, 9226156, 9823952		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	ORPHANET_DG	23491079		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	12526921, 12571459, 16344676, 17015828, 21135260, 9824651		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	15217836, 24413735		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10049054, 10557042, 10825008, 10914546, 11106815, 11129441, 11378579, 11432885, 11455977, 11550288, 11579464, 11699220, 11726315, 12091359, 12124316, 12491511, 12550760, 12646943, 12661004, 12874780, 14695996, 15104290, 15120912, 15142881, 15193447, 15356655, 15704129, 15770827, 16020107, 16157196, 16213362, 16278392, 16344676, 16552772, 16584381, 16763978, 17284366, 17285576, 17374122, 17889709, 18206538, 18767146, 19010836, 19100516, 19129484, 19264230, 19594616, 19896186, 19998443, 20453109, 21482711, 21628403, 21822204, 23077088, 23741012, 24241490, 24339741, 24413735, 24655352, 25273558, 25388957, 25893288, 26185316, 26327566, 26520622, 26580398, 26852652, 27393278, 27536776, 27650541, 28004528, 28063378, 28299658, 28395118, 29883054, 30381299, 30689137, 30986496, 31034759, 31429529, 7761424, 7780150, 8667657, 8704188, 8751462, 8913730, 9050885, 9226156, 9234595, 9845546, 9861236, 9864173		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12393286, 12526921, 15991223, 16278392, 16386788, 16673018, 17285576, 17673463, 17889709, 17889714, 18206538, 18445843, 18635414, 18767146, 19100516		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	17255265		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	11106814, 11960347, 12072207, 14695990, 17968322, 21172890, 21828118, 21914494, 22366949, 23341344, 24792891, 28790107, 29441563, 29733873, 30842058, 8704188		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	LHGDN	12072207		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	17901249, 20339092, 25252869		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20735389, 25537508, 29328406, 29465000		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17909013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25537508, 36766786	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	14608357, 15184985, 15654961, 15923274, 21166663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	16519819	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	25903422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	14615365, 16390315, 17017876, 7845018		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	16467864, 23877199		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	25994056		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29759484		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28400392		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40084286	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	36572559	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14608356, 15184985, 15838240, 16652416, 16821265, 18087673, 18328148, 22449398, 28693140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15184985, 18087673, 18328148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	23143596, 24390342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	23143596, 24390342, 24532676, 26546613, 30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18281018		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	24812288	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	18759297		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	29143464		★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	10825008, 11264187, 19027486, 19357396, 22677128, 25006131, 25252869, 25840971, 27137476		★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	19016724		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24574234	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	23034403		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	34987319	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	40188457	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20308320, 22143938		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18500170, 22865593, 25486427, 30666517		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	GWASCAT_DG	25129146		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25760063, 34606420	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28807942		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28499703		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15386419, 24388988, 26716895, 28835317, 29686309, 29922087		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15386419		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26931432, 28835317, 29686309, 33090400	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	11023523	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	20339092	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	12060124, 15741216, 18487507, 20181616, 20876458, 21129147, 21339820, 21714648, 22102704, 23971860, 24100448, 24606315, 25490895, 26021490, 26514544, 26884589, 27112265, 28676520, 29632235, 30373888, 30545930, 31648317, 33560381, 34424323, 35839075, 36736831, 37160316, 37738626, 38019014	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	BEFREE	15061191, 24430186, 27365488		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17914110	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19536094	Stimulate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	27112265	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24967588, 28590426, 36766786	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31423253		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	30046048		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35534796	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	30347896		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	30347896	Associate	★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	33200495	Associate	★☆☆☆☆ Found in Text Mining only
Von Willebrand disease platelet type	Von willebrand disorder	Pubtator	34019812	Associate	★☆☆☆☆ Found in Text Mining only