KMT2A (lysine methyltransferase 2A)

Gene

• Entrez ID: 4297
• Gene name: Lysine methyltransferase 2A
• Gene symbol: KMT2A
• Synonyms (NCBI Gene): ALL-1, ALL1, CXXC7, GAS7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs563239	G>A,C	Pathogenic	Splice acceptor variant
rs150328852	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs150800017	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs200497972	C>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs387907275	C>T	Pathogenic	Stop gained, coding sequence variant
rs398122878	GTCT>-	Pathogenic	Stop gained, coding sequence variant
rs398122879	T>-	Pathogenic	Stop gained, coding sequence variant
rs398122880	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122881	->T	Pathogenic	Stop gained, coding sequence variant
rs587783676	GA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs587783678	C>G	Pathogenic	Coding sequence variant, stop gained
rs587783679	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs587783680	C>T	Pathogenic	Coding sequence variant, stop gained
rs727503777	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs781978013	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs782297546	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs782451966	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs782690725	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs782727635	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs797044565	GTCA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs797044937	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs797045051	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs797045656	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224887	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863224888	->C	Pathogenic	Frameshift variant, coding sequence variant
rs863224889	G>A	Likely-pathogenic	Splice donor variant
rs863224895	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs864309569	C>G	Pathogenic	Stop gained, coding sequence variant
rs868985556	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039658	C>A	Pathogenic	Stop gained, coding sequence variant
rs886041571	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041834	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041856	C>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs886041875	T>C	Pathogenic	Missense variant, coding sequence variant
rs886041881	A>T	Pathogenic	Missense variant, coding sequence variant
rs886041896	A>T	Pathogenic	Stop gained, coding sequence variant
rs886041947	TCTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs940325244	G>T	Likely-benign, pathogenic	Missense variant, splice acceptor variant, coding sequence variant
rs1057518074	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1057519149	->T	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057519403	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519407	G>A	Pathogenic	Splice donor variant
rs1057519408	TTGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520177	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057520696	T>A	Pathogenic	Missense variant, coding sequence variant
rs1064793451	CT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1064795340	->AAACTCTCTG	Pathogenic	Stop gained, coding sequence variant
rs1064796644	A>C	Likely-pathogenic	Intron variant
rs1064796672	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796711	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796776	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796862	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064797024	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1064797056	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064797162	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1085307772	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307857	G>A	Pathogenic	Missense variant, coding sequence variant
rs1085307947	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691287	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691365	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691433	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691503	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1131691614	GC>TT	Pathogenic	Stop gained, coding sequence variant
rs1131691799	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1131692268	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1135401764	G>A	Pathogenic	Splice donor variant
rs1555034779	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs1555035511	C>A,G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant, intron variant
rs1555035550	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555035779	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036328	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036394	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036436	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036475	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036478	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036599	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555036663	G>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1555036801	A>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1555037629	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555038029	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555038083	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555038090	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1555038111	T>G	Pathogenic	Coding sequence variant, stop gained
rs1555038122	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555038125	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555038844	T>C	Pathogenic	Splice donor variant
rs1555039242	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555039343	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555039476	G>C	Pathogenic	Splice donor variant
rs1555039606	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555040480	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs1555041617	TGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555042987	A>G	Pathogenic	Splice acceptor variant
rs1555043796	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1555043939	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555044700	G>A	Pathogenic	Splice acceptor variant
rs1555045177	T>A,C	Likely-pathogenic	Intron variant
rs1555045506	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555045816	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555045834	G>A	Likely-pathogenic	Splice donor variant
rs1555046404	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555046428	->CAGAT	Pathogenic	Coding sequence variant, frameshift variant
rs1555046568	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555046615	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555046764	CCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555047266	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555047506	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555047532	C>A,G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1555047647	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555048203	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1555049702	G>A	Pathogenic	Splice donor variant
rs1555138529	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555138552	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1565278132	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1565280934	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565286640	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565294188	T>A	Pathogenic	Coding sequence variant, stop gained
rs1591266263	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1591269240	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1591274900	->GATGTGAATTCTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1591281225	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591281317	T>-	Pathogenic	Coding sequence variant, stop gained
rs1591281522	GAATGAGCAACA>TTATG	Pathogenic	Coding sequence variant, frameshift variant
rs1591281736	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591282224	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591282615	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591283017	AGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1591283372	GCTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591283456	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591285040	A>GAAGGC	Pathogenic	Coding sequence variant, frameshift variant
rs1591285326	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591285545	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591286581	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591286958	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1591292118	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1591371152	G>A	Pathogenic	Splice donor variant
rs1591373553	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1591373923	->C	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591374532	TC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591374984	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591376082	TA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591379711	TATTCAGGGTCA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1591379741	GAGACCT>CTAGGCTGCAGTGAGCTGTGACTGTGCCACTGTATTGCAGCCTAGGCAACAAAGCAATC	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1591381084	C>A	Pathogenic	Coding sequence variant, stop gained
rs1591383060	C>T	Pathogenic	Coding sequence variant, stop gained
rs1591384640	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591385068	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1591385183	T>A	Pathogenic	Splice donor variant
rs1591385663	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591388321	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1591393351	CGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006587	hsa-miR-221-3p	qRT-PCR, Luciferase reporter assay, Western blot	19749093
MIRT017178	hsa-miR-335-5p	Microarray	18185580
MIRT031581	hsa-miR-16-5p	Sequencing	20371350
MIRT032120	hsa-let-7d-5p	Sequencing	20371350
MIRT051043	hsa-miR-17-5p	CLASH	23622248
MIRT044880	hsa-miR-193a-3p	CLASH	23622248
MIRT044681	hsa-miR-320a	CLASH	23622248
MIRT042344	hsa-miR-484	CLASH	23622248
MIRT036400	hsa-miR-1227-3p	CLASH	23622248
MIRT036224	hsa-miR-320b	CLASH	23622248
MIRT702333	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT702332	hsa-miR-6730-3p	HITS-CLIP	23313552
MIRT702331	hsa-miR-3660	HITS-CLIP	23313552
MIRT702330	hsa-miR-4526	HITS-CLIP	23313552
MIRT702329	hsa-miR-6719-3p	HITS-CLIP	23313552
MIRT702327	hsa-miR-4670-3p	HITS-CLIP	23313552
MIRT702328	hsa-miR-6759-3p	HITS-CLIP	23313552
MIRT128885	hsa-miR-2052	HITS-CLIP	23313552
MIRT702326	hsa-miR-3143	HITS-CLIP	23313552
MIRT702325	hsa-miR-192-5p	HITS-CLIP	23313552
MIRT702324	hsa-miR-215-5p	HITS-CLIP	23313552
MIRT702323	hsa-miR-302c-5p	HITS-CLIP	23313552
MIRT702322	hsa-miR-3942-3p	HITS-CLIP	23313552
MIRT128944	hsa-miR-30a-3p	HITS-CLIP	23313552
MIRT128949	hsa-miR-30d-3p	HITS-CLIP	23313552
MIRT128962	hsa-miR-30e-3p	HITS-CLIP	23313552
MIRT179230	hsa-miR-129-2-3p	HITS-CLIP	23313552
MIRT179228	hsa-miR-129-1-3p	HITS-CLIP	23313552
MIRT179235	hsa-miR-3121-5p	HITS-CLIP	23313552
MIRT179227	hsa-miR-106a-3p	HITS-CLIP	23313552
MIRT179233	hsa-miR-450b-5p	HITS-CLIP	23313552
MIRT623421	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623420	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT623419	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT623418	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT623417	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT623416	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT623415	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT623421	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623420	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT623419	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT623418	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT623417	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT623416	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT623415	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT128862	hsa-miR-142-3p	PAR-CLIP	22291592
MIRT128859	hsa-miR-199b-3p	PAR-CLIP	22291592
MIRT128891	hsa-miR-3129-5p	PAR-CLIP	22291592
MIRT128855	hsa-miR-199a-3p	PAR-CLIP	22291592
MIRT128915	hsa-miR-4436b-3p	PAR-CLIP	22291592
MIRT128909	hsa-miR-4632-5p	PAR-CLIP	22291592
MIRT128926	hsa-miR-6735-5p	PAR-CLIP	22291592
MIRT128936	hsa-miR-6879-5p	PAR-CLIP	22291592
MIRT128940	hsa-miR-7843-5p	PAR-CLIP	22291592
MIRT128911	hsa-miR-4699-3p	PAR-CLIP	22291592
MIRT179220	hsa-miR-3918	PAR-CLIP	22291592
MIRT128878	hsa-miR-616-3p	PAR-CLIP	22291592
MIRT128890	hsa-miR-3127-5p	PAR-CLIP	22291592
MIRT128858	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT128905	hsa-miR-4452	PAR-CLIP	22291592
MIRT441435	hsa-miR-6895-5p	PAR-CLIP	22100165
MIRT264848	hsa-miR-302c-3p	PAR-CLIP	22100165
MIRT264856	hsa-miR-520f-3p	PAR-CLIP	22100165
MIRT179183	hsa-miR-5681a	PAR-CLIP	22100165
MIRT441434	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441433	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT128892	hsa-miR-3153	PAR-CLIP	22100165
MIRT128925	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT128927	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT441431	hsa-miR-636	PAR-CLIP	22100165
MIRT441432	hsa-miR-450a-1-3p	PAR-CLIP	22100165
MIRT441435	hsa-miR-6895-5p	PAR-CLIP	22100165
MIRT264848	hsa-miR-302c-3p	PAR-CLIP	22100165
MIRT264856	hsa-miR-520f-3p	PAR-CLIP	22100165
MIRT179183	hsa-miR-5681a	PAR-CLIP	22100165
MIRT441434	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441433	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT128892	hsa-miR-3153	PAR-CLIP	22100165
MIRT128925	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT128927	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT441431	hsa-miR-636	PAR-CLIP	22100165
MIRT441432	hsa-miR-450a-1-3p	PAR-CLIP	22100165
MIRT440230	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT128862	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440229	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440228	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT440230	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT128862	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440229	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT128943	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT128955	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT440228	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT702333	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT702332	hsa-miR-6730-3p	HITS-CLIP	23313552
MIRT702331	hsa-miR-3660	HITS-CLIP	23313552
MIRT702330	hsa-miR-4526	HITS-CLIP	23313552
MIRT702329	hsa-miR-6719-3p	HITS-CLIP	23313552
MIRT702327	hsa-miR-4670-3p	HITS-CLIP	23313552
MIRT702328	hsa-miR-6759-3p	HITS-CLIP	23313552
MIRT128885	hsa-miR-2052	HITS-CLIP	23313552
MIRT702326	hsa-miR-3143	HITS-CLIP	23313552
MIRT702325	hsa-miR-192-5p	HITS-CLIP	23313552
MIRT702324	hsa-miR-215-5p	HITS-CLIP	23313552
MIRT702323	hsa-miR-302c-5p	HITS-CLIP	23313552
MIRT702322	hsa-miR-3942-3p	HITS-CLIP	23313552
MIRT128944	hsa-miR-30a-3p	HITS-CLIP	23313552
MIRT128949	hsa-miR-30d-3p	HITS-CLIP	23313552
MIRT128962	hsa-miR-30e-3p	HITS-CLIP	23313552
MIRT179230	hsa-miR-129-2-3p	HITS-CLIP	23313552
MIRT179228	hsa-miR-129-1-3p	HITS-CLIP	23313552
MIRT179235	hsa-miR-3121-5p	HITS-CLIP	23313552
MIRT179227	hsa-miR-106a-3p	HITS-CLIP	23313552
MIRT179233	hsa-miR-450b-5p	HITS-CLIP	23313552
MIRT623421	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623420	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT623419	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT623418	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT623417	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT623416	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT623415	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT623421	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623420	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT623419	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT623418	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT623417	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT623416	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT623415	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT128862	hsa-miR-142-3p	PAR-CLIP	22291592
MIRT128859	hsa-miR-199b-3p	PAR-CLIP	22291592
MIRT128891	hsa-miR-3129-5p	PAR-CLIP	22291592
MIRT128855	hsa-miR-199a-3p	PAR-CLIP	22291592
MIRT128915	hsa-miR-4436b-3p	PAR-CLIP	22291592
MIRT128909	hsa-miR-4632-5p	PAR-CLIP	22291592
MIRT128926	hsa-miR-6735-5p	PAR-CLIP	22291592
MIRT128936	hsa-miR-6879-5p	PAR-CLIP	22291592
MIRT128940	hsa-miR-7843-5p	PAR-CLIP	22291592
MIRT128911	hsa-miR-4699-3p	PAR-CLIP	22291592
MIRT179220	hsa-miR-3918	PAR-CLIP	22291592
MIRT128878	hsa-miR-616-3p	PAR-CLIP	22291592
MIRT128890	hsa-miR-3127-5p	PAR-CLIP	22291592
MIRT128858	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT128905	hsa-miR-4452	PAR-CLIP	22291592
MIRT441435	hsa-miR-6895-5p	PAR-CLIP	22100165
MIRT264848	hsa-miR-302c-3p	PAR-CLIP	22100165
MIRT264856	hsa-miR-520f-3p	PAR-CLIP	22100165
MIRT179183	hsa-miR-5681a	PAR-CLIP	22100165
MIRT441434	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441433	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT128892	hsa-miR-3153	PAR-CLIP	22100165
MIRT128925	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT128927	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT441431	hsa-miR-636	PAR-CLIP	22100165
MIRT441432	hsa-miR-450a-1-3p	PAR-CLIP	22100165
MIRT441435	hsa-miR-6895-5p	PAR-CLIP	22100165
MIRT264848	hsa-miR-302c-3p	PAR-CLIP	22100165
MIRT264856	hsa-miR-520f-3p	PAR-CLIP	22100165
MIRT179183	hsa-miR-5681a	PAR-CLIP	22100165
MIRT441434	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441433	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT128892	hsa-miR-3153	PAR-CLIP	22100165
MIRT128925	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT128927	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT441431	hsa-miR-636	PAR-CLIP	22100165
MIRT441432	hsa-miR-450a-1-3p	PAR-CLIP	22100165

Transcription factors

Transcription factor	Regulation	Reference
SOX4	Unknown	20019190

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003680	Function	Minor groove of adenine-thymine-rich DNA binding	NAS	1423624
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	11313484, 14992727, 15199122, 15960975, 18840606, 19187761, 19556245, 20541251, 20541477, 20581860, 20818375, 20969867, 21113167, 21220120, 22327296, 22665483, 22722839, 22936661, 23870121, 24735925, 24981860, 25082813, 25305204, 25751424, 26886794, 27705803, 29997176, 30021884, 336
GO:0005634	Component	Nucleus	IDA	11313484, 15640349, 22046413, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	1423624
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	16990798, 19187761, 29276034
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0035097	Component	Histone methyltransferase complex	IBA
GO:0035097	Component	Histone methyltransferase complex	IDA	19556245
GO:0035097	Component	Histone methyltransferase complex	IEA
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035162	Process	Embryonic hemopoiesis	TAS	15618964
GO:0035640	Process	Exploration behavior	IEA
GO:0035864	Process	Response to potassium ion	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	EXP	22012064
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IDA	19187761, 19556245, 24235145
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IMP	15960975
GO:0042800	Function	Histone H3K4 methyltransferase activity	ISS
GO:0042802	Function	Identical protein binding	IPI	10656681, 11313484
GO:0042803	Function	Protein homodimerization activity	IDA	11313484
GO:0044665	Component	MLL1/2 complex	IEA
GO:0045064	Process	T-helper 2 cell differentiation	IDA	20484083
GO:0045322	Function	Unmethylated CpG binding	IDA	16990798, 20010842, 29276034
GO:0045322	Function	Unmethylated CpG binding	IEA
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	19556245
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	15960975
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	15960975
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20861184
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IEA
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050890	Process	Cognition	IEA
GO:0051899	Process	Membrane depolarization	IEA
GO:0060216	Process	Definitive hemopoiesis	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	15199122
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IPI	23508102
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090310	Process	Negative regulation of DNA methylation-dependent heterochromatin formation	IMP	20010842
GO:0106363	Function	Protein-cysteine methyltransferase activity	IDA	24235145
GO:0106363	Function	Protein-cysteine methyltransferase activity	IEA
GO:0140945	Function	Histone H3K4 monomethyltransferase activity	IEA
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IDA	20861184
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IEA

Other IDs

• MIM: 159555
• HGNC: 7132
• e!Ensembl: ENSG00000118058

Protein

• UniProt ID: Q03164
• Protein name: Histone-lysine N-methyltransferase 2A (Lysine N-methyltransferase 2A) (EC 2.1.1.364) (ALL-1) (CXXC-type zinc finger protein 7) (Cysteine methyltransferase KMT2A) (EC 2.1.1.-) (Myeloid/lymphoid or mixed-lineage leukemia) (Myeloid/lymphoid or mixed-lineage
• Protein function: Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/
• PDB: 2AGH, 2J2S, 2JYI, 2KKF, 2KU7, 2KYU, 2LXS, 2LXT, 2MSR, 2MTN, 2W5Y, 2W5Z, 3EG6, 3EMH, 3LQH, 3LQI, 3LQJ, 3P4F, 3U85, 3U88, 4ESG, 4GQ6, 4NW3, 5F5E, 5F6L, 5SVH, 6EMQ, 6KIU, 6KIV, 6KIX, 6KIZ, 6PWV, 6PWW, 6U9K, 6U9M, 6U9N, 6U9R, 6W5I, 6W5M, 6W5N, 7MBM, 7MBN, 7RZD, 7RZJ, 7S79, 7S7D, 7S8A, 7S8E, 7S8F, 7U5V, 7W67
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02008	zf-CXXC	1147 → 1194	CXXC zinc finger domain	Domain
  PF00628	PHD	1481 → 1533	PHD-finger	Domain
  PF00628	PHD	1568 → 1627	PHD-finger	Domain
  PF13771	zf-HC5HC2H	1900 → 1978		Domain
  PF05964	FYRN	2024 → 2071	F/Y-rich N-terminus	Family
  PF05965	FYRC	3666 → 3748	F/Y rich C-terminus	Family
  PF00856	SET	3840 → 3945	SET domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Heart, lung, brain and T- and B-lymphocytes.
• Sequence:

  MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAV
  AAAAAAAGSSGAGVPGGAAAASAASSSSASSSSSSSSSASSGPALLRVGPGFDAALQVSA
  AIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
  SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKD
  ISELPKGNKEDSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIV
  RRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
  IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSR
  IIKTPRRFIEDEDYDPPIKIARLESTPNSRFSAPSCGSSEKSSAASQHSSQMSSDSSRSS
  SPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
  RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPAS
  TAPMQGKRKSILREPTFRWTSLKHSRSEPQYFSSAKYAKEGLIRKPIFDNFRPPPLTPED
  VGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
  RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSL
  SISVSPLATSALNPTFTFPSHSLTQSGESAEKNQRPRKQTSAPAEPFSSSSPTPLFPWFT
  PGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
  SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKI
  LIKKGRGNLEKTNLDLGPTAPSLEKEKTLCLSTPSSSTVKHSTSSIGSMLAQADKLPMTD
  KRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
  RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKA
  PQEPPVKKGRRSRRCGQCPGCQVPEDCGVCTNCLDKPKFGGRNIKKQCCKMRKCQNLQWM
  PSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
  PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVP
  KTTPSEPKKKQPPPPESGPEQSKQKKVAPRPSIPVKQKPKEKEKPPPVNKQENAGTLNIL
  STLSNGNSSKQKIPADGVHRIRVDFKEDCEAENVWEMGGLGILTSVPITPRVVCFLCASS
  GHVEFVYCQVCCEPFHKFCLEENERPLEDQLENWCCRRCKFCHVCGRQHQATKQLLECNK
  CRNSYHPECLGPNYPTKPTKKKKVWICTKCVRCKSCGSTTPGKGWDAQWSHDFSLCHDCA
  KLFAKGNFCPLCDKCYDDDDYESKMMQCGKCDRWVHSKCENLSDEMYEILSNLPESVAYT
  CVNCTERHPAEWRLALEKELQISLKQVLTALLNSRTTSHLLRYRQAAKPPDLNPETEESI
  PSRSSPEGPDPPVLTEVSKQDDQQPLDLEGVKRKMDQGNYTSVLEFSDDIVKIIQAAINS
  DGGQPEIKKANSMVKSFFIRQMERVFPWFSVKKSRFWEPNKVSSNSGMLPNAVLPPSLDH
  NYAQWQEREENSHTEQPPLMKKIIPAPKPKGPGEPDSPTPLHPPTPPILSTDRSREDSPE
  LNPPPGIEDNRQCALCLTYGDDSANDAGRLLYIGQNEWTHVNCALWSAEVFEDDDGSLKN
  VHMAVIRGKQLRCEFCQKPGATVGCCLTSCTSNYHFMCSRAKNCVFLDDKKVYCQRHRDL
  IKGEVVPENGFEVFRRVFVDFEGISLRRKFLNGLEPENIHMMIGSMTIDCLGILNDLSDC
  EDKLFPIGYQCSRVYWSTTDARKRCVYTCKIVECRPPVVEPDINSTVEHDENRTIAHSPT
  SFTESSSKESQNTAEIISPPSPDRPPHSQTSGSCYYHVISKVPRIRTPSYSPTQRSPGCR
  PLPSAGSPTPTTHEIVTVGDPLLSSGLRSIGSRRHSTSSLSPQRSKLRIMSPMRTGNTYS
  RNNVSSVSTTGTATDLESSAKVVDHVLGPLNSSTSLGQNTSTSSNLQRTVVTVGNKNSHL
  DGSSSSEMKQSSASDLVSKSSSLKGEKTKVLSSKSSEGSAHNVAYPGIPKLAPQVHNTTS
  RELNVSKIGSFAEPSSVSFSSKEALSFPHLHLRGQRNDRDQHTDSTQSANSSPDEDTEVK
  TLKLSGMSNRSSIINEHMGSSSRDRRQKGKKSCKETFKEKHSSKSFLEPGQVTTGEEGNL
  KPEFMDEVLTPEYMGQRPCNNVSSDKIGDKGLSMPGVPKAPPMQVEGSAKELQAPRKRTV
  KVTLTPLKMENESQSKNALKESSPASPLQIESTSPTEPISASENPGDGPVAQPSPNNTSC
  QDSQSNNYQNLPVQDRNLMLPDGPKPQEDGSFKRRYPRRSARARSNMFFGLTPLYGVRSY
  GEEDIPFYSSSTGKKRGKRSAEGQVDGADDLSTSDEDDLYYYNFTRTVISSGGEERLASH
  NLFREEEQCDLPKISQLDGVDDGTESDTSVTATTRKSSQIPKRNGKENGTENLKIDRPED
  AGEKEHVTKSSVGHKNEPKMDNCHSVSRVKTQGQDSLEAQLSSLESSRRVHTSTPSDKNL
  LDTYNTELLKSDSDNNNSDDCGNILPSDIMDFVLKNTPSMQALGESPESSSSELLNLGEG
  LGLDSNREKDMGLFEVFSQQLPTTEPVDSSVSSSISAEEQFELPLELPSDLSVLTTRSPT
  VPSQNPSRLAVISDSGEKRVTITEKSVASSESDPALLSPGVDPTPEGHMTPDHFIQGHMD
  ADHISSPPCGSVEQGHGNNQDLTRNSSTPGLQVPVSPTVPIQNQKYVPNSTDSPGPSQIS
  NAAVQTTPPHLKPATEKLIVVNQNMQPLYVLQTLPNGVTQKIQLTSSVSSTPSVMETNTS
  VLGPMGGGLTLTTGLNPSLPTSQSLFPSASKGLLPMSHHQHLHSFPAATQSSFPPNISNP
  PSGLLIGVQPPPDPQLLVSESSQRTDLSTTVATPSSGLKKRPISRLQTRKNKKLAPSSTP
  SNIAPSDVVSNMTLINFTPSQLPNHPSLLDLGSLNTSSHRTVPNIIKRSKSSIMYFEPAP
  LLPQSVGGTAATAAGTSTISQDTSHLTSGSVSGLASSSSVLNVVSMQTTTTPTSSASVPG
  HVTLTNPRLLGTPDIGSISNLLIKASQQSLGIQDQPVALPPSSGMFPQLGTSQTPSTAAI
  TAASSICVLPSTQTTGITAASPSGEADEHYQLQHVNQLLASKTGIHSSQRDLDSASGPQV
  SNFTQTVDAPNSMGLEQNKALSSAVQASPTSPGGSPSSPSSGQRSASPSVPGPTKPKPKT
  KRFQLPLDKGNGKKHKVSHLRTSSSEAHIPDQETTSLTSGTGTPGAEAEQQDTASVEQSS
  QKECGQPAGQVAVLPEVQVTQNPANEQESAEPKTVEEEESNFSSPLMLWLQQEQKRKESI
  TEKKPKKGLVFEISSDDGFQICAESIEDAWKSLTDKVQEARSNARLKQLSFAGVNGLRML
  GILHDAVVFLIEQLSGAKHCRNYKFRFHKPEEANEPPLNPHGSARAEVHLRKSAFDMFNF
  LASKHRQPPEYNPNDEEEEEVQLKSARRATSMDLPMPMRFRHLKKTSKEAVGVYRSPIHG
  RGLFCKRNIDAGEMVIEYAGNVIRSIQTDKREKYYDSKGIGCYMFRIDDSEVVDATMHGN
  AARFINHSCEPNCYSRVINIDGQKHIVIFAMRKIYRGEELTYDYKFPIEDASNKLPCNCG
  AKKCRKFLN

• Sequence length: 3969

Pathways

KEGG:

Lysine degradation
Metabolic pathways
Cushing syndrome
Transcriptional misregulation in cancer

Reactome:

PKMTs methylate histone lysines
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
RUNX1 regulates transcription of genes involved in differentiation of HSCs

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
Adrenal cortex carcinoma	Pathogenic	rs782297546	RCV004813092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs141515578	RCV003128060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange syndrome 1	Pathogenic	rs727503777	RCV000157053	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirsutism	Pathogenic	rs1555039343	RCV001261359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
intellectual deficiency	Likely pathogenic; Pathogenic	rs886041856	RCV000415284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs2134409465, rs1555039343, rs1565278132, rs1591371152, rs1949946887, rs1949956477, rs1950141561, rs1950143446, rs1950540436, rs1950562472, rs1950567837	RCV001526616 RCV001261359 RCV000678480 RCV001526651 RCV001257645 RCV001257644 RCV001257643 RCV001257593 RCV001257641 RCV001257594 RCV001257640	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kabuki syndrome 1	Pathogenic	rs1555044700	RCV000578141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KMT2A-related disorder	Pathogenic; Likely pathogenic	rs2134153013, rs1591283017, rs2134151980, rs2497020327, rs150800017, rs1591292118	RCV003900790 RCV004744457 RCV003403087 RCV003894120 RCV004722755 RCV003918645	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic; Likely pathogenic	rs1949984655, rs886039658	RCV001252690 RCV001252689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs200497972	RCV006273945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2134335014, rs2134408087, rs2497019130	RCV001374926 RCV002277637 RCV003389222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Pathogenic; Likely pathogenic	rs1555039343, rs2496842029	RCV001256980 RCV001257003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein Taybi like syndrome	Likely pathogenic	rs1950378051	RCV001261777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic; Pathogenic	rs1591266263	RCV005902110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wiedemann-Steiner syndrome	Pathogenic; Likely pathogenic	rs1949960915, rs1949967549, rs2134335014, rs2134393031, rs782311054, rs2134367981, rs2134269273, rs2134366416, rs2134152803, rs2134271140, rs2134153013, rs2134266780, rs2134327570, rs781843315, rs2134357027, rs2134258206, rs2134293919, rs2134300616, rs2134404192, rs2134367400, rs2134282528, rs2134389341, rs2134260983, rs2134355176, rs2134152310, rs2134272841, rs2134402509, rs2134430935, rs2134264638, rs2134395799, rs2134311608, rs2134405469, rs2134381253, rs2134287568, rs2134286994, rs2134387390, rs1385902057, rs2134397119, rs2134257719, rs2135292977, rs2134351311, rs587783678, rs587783676, rs587783679, rs587783680, rs2134409720, rs2134406005, rs2496793671, rs2496997547, rs2496973394, rs1950502854, rs2497004554, rs2496918604, rs782263597, rs2496930073, rs2497002606, rs2497016781, rs1131691287, rs2496948166, rs2497062538, rs2496810418, rs797044565, rs2497062839, rs797045051, rs797045656, rs782477344, rs2496813149, rs863224887, rs863224889, rs863224895, rs863224888, rs2134328020, rs2497048472, rs2496842510, rs2496818327, rs2496969762, rs907814598, rs886041875, rs886041896, rs886041856, rs886041834, rs782373978, rs2496913133, rs2497025987, rs2497017763, rs2496973527, rs2497021821, rs2497102338, rs2496863262, rs2496840469, rs2496996911, rs2496999974, rs2134287017, rs2496961555, rs2496918758, rs1555047466, rs2496868859, rs2496842241, rs2496812260, rs2497004962, rs2496814214, rs2497006686, rs2496812832, rs2497033999, rs2496913119, rs2496989171, rs2497024345, rs2496961089, rs2496948031, rs2496947421, rs2497013377, rs1950640800, rs2134395213, rs2134259032, rs2496910348, rs1057518074, rs782297546, rs1057519403, rs1057519407, rs1057519408, rs1057520177, rs1064793451, rs1555043939, rs1085307857, rs1131691799, rs1131691433, rs1131692268, rs1135401764, rs1555037629, rs1555038090, rs1131691503, rs1555045177, rs1555047266, rs1555035550, rs1555049702, rs1555045816, rs1555046568, rs398122878, rs398122879, rs398122880, rs387907275, rs398122881, rs1555038029, rs1555034779, rs868985556, rs1555039343, rs1555052879, rs1555036801, rs1555038111, rs1555038125, rs1555035779, rs200497972, rs1555050211, rs1565304395, rs1565310297, rs1565286640, rs1555035511, rs1565280934, rs1591266263, rs1591283017, rs1591385183, rs1591385663, rs1591286581, rs1555138552, rs1591371152, rs1591381084, rs1591383060, rs1591384640, rs1591393351, rs1555043796, rs1591282224, rs1591282615, rs1591312430, rs1591374984, rs1591379711, rs1591373553, rs1591373923, rs1591283372, rs1591385068, rs1949970237, rs1949984032, rs1949980614, rs1555040446, rs1950569353, rs1950540436, rs1950922313, rs1950444447, rs1950445312, rs1950523317, rs1949951871, rs1950551811	RCV001333866 RCV001333867 RCV003148986 RCV001375967 RCV005867001 RCV005253846 RCV001788542 RCV001527632 RCV001542458 RCV001542476 RCV001548758 RCV003444063 RCV001591701 RCV001619760 RCV003152768 RCV001775354 RCV001775371 RCV001775398 RCV001782349 RCV001782350 RCV001795568 RCV001801265 RCV001807915 RCV001814655 RCV001814827 RCV001843868 RCV002052048 RCV002052169 RCV002071020 RCV002222324 RCV002226851 RCV002226874 RCV002226942 RCV002243595 RCV002249088 RCV002250076 RCV002250077 RCV002250078 RCV002250080 RCV002251038 RCV002251255 RCV002260580 RCV000146140 RCV000146137 RCV000146144 RCV000146145 RCV002272689 RCV002274365 RCV005930253 RCV002281892 RCV002283874 RCV002288363 RCV002289274 RCV002291121 RCV002465382 RCV002468730 RCV002471377 RCV002471654 RCV002471771 RCV002471772 RCV002471989 RCV002470577 RCV001029947 RCV002795939 RCV000191101 RCV000194967 RCV000194582 RCV003152806 RCV000199889 RCV000198164 RCV000199053 RCV000196622 RCV002810035 RCV002789994 RCV003128067 RCV003146832 RCV003146836 RCV003148134 RCV003223473 RCV001328711 RCV003456046 RCV001254088 RCV005252851 RCV004796789 RCV003307367 RCV003313758 RCV003314174 RCV003314479 RCV003315127 RCV003315197 RCV003315201 RCV003318322 RCV003333328 RCV003335945 RCV003336653 RCV003885335 RCV003444031 RCV003447727 RCV003456323 RCV003484455 RCV003484461 RCV003484522 RCV003487108 RCV004763700 RCV005254840 RCV003649156 RCV003883302 RCV003985180 RCV003990750 RCV004006240 RCV004555482 RCV004556943 RCV004579663 RCV004594986 RCV004594987 RCV004595196 RCV004595197 RCV000824854 RCV000415145 RCV000417110 RCV000417093 RCV000417101 RCV004760491 RCV003483632 RCV000856786 RCV001376037 RCV002248724 RCV000988751 RCV000495988 RCV000496312 RCV002250645 RCV001007914 RCV000501260 RCV000502079 RCV000501129 RCV000508661 RCV000515671 RCV003532154 RCV000626313 RCV000030721 RCV000030722 RCV000030723 RCV000030724 RCV000030725 RCV000578173 RCV001261357 RCV002250672 RCV001836647 RCV003987627 RCV002293245 RCV000625799 RCV000625973 RCV000626314 RCV000626315 RCV005410911 RCV001270411 RCV000681501 RCV000681512 RCV000760208 RCV002274098 RCV003985094 RCV000824819 RCV000824862 RCV000850567 RCV000851492 RCV000856728 RCV000988745 RCV000988746 RCV000988748 RCV000988749 RCV000988750 RCV000988752 RCV000988753 RCV000988754 RCV000988755 RCV000988757 RCV000995797 RCV000995569 RCV001007873 RCV001007907 RCV001007908 RCV001027685 RCV005633862 RCV003313175 RCV001251197 RCV001252544 RCV001252545 RCV002250739 RCV001261358 RCV001262256 RCV006249735 RCV004799568 RCV001290428 RCV001293707	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical behavior	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral ptosis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KABUKI MAKE-UP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIEDEMANN STEINER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	12620410		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9242213		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6a subtype	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6b subtype	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10025907, 10197596, 10374852, 10381524, 10457404, 10557043, 10583275, 10602503, 10700861, 10706136, 10738298, 10764144, 11069023, 11167824, 11187895, 11433529, 11439343, 11477655, 11480574, 11522623, 11527155, 11921290, 12095151, 12446457, 12472570, 12511424, 12619163, 12637319, 12665591, 12684622, 12686606, 12750700, 12860012, 12874781, 12886247, 12957285, 1423625, 14582077, 14671638, 14704031, 14970849, 14978794, 15075073, 15160920, 15269783, 15322560, 15323147, 15464450, 15618964, 15626757, 15663355, 15755504, 15815718, 16105754, 16158928, 16239140, 16377807, 16433901, 16511515, 16518848, 16688745, 16843108, 16857431, 17145626, 17284365, 17410185, 17452254, 17581865, 17588788, 17726105, 17854671, 17957188, 17968322, 18474298, 18617060, 18640063, 18642054, 18930318, 19074864, 19262598, 19277575, 19411627, 19729989, 19835597, 20113834, 20206559, 20454944, 20539022, 20920256, 21518888, 21518926, 21900057, 22094252, 22137486, 22160057, 22286128, 22665135, 22846743, 23349306, 23432364, 23562474, 23801631, 24125990, 24449215, 24564228, 24631740, 24787275, 25131304, 25510485, 25699572, 25740345, 25793396, 25892123, 26059450, 26627013, 26671109, 26766589, 26970896, 27290878, 27666791, 27705736, 27840424, 27859216, 28232907, 28241139, 28536863, 28626219, 28701730, 28943239, 29018079, 29384595, 29720585, 29730189, 29738674, 29978456, 30374167, 30387535, 30446944, 30548174, 30624859, 30707474, 30967619, 31132972, 31136005, 31381950, 7529550, 7658717, 7885037, 7920216, 7950907, 8016145, 8044771, 8058765, 8152254, 8219184, 8282816, 8298125, 8329709, 8339294, 8358709, 8378328, 8443374, 8506328, 8616778, 8639852, 8639880, 8703835, 8709635, 8824725, 9010221, 9029018, 9041173, 9230194, 9331569, 9418860, 9447829, 9477123, 9539705, 9539779, 9592986, 9594441, 9616163, 9639429, 9766500, 9787135, 9808577, 9844603		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10374870, 10394590, 10457404, 10458233, 10557043, 10602437, 10607691, 10679915, 10738298, 10773450, 10825008, 10861294, 10865968, 11071360, 11167741, 11187895, 11196198, 11314021, 11369654, 11397475, 11493704, 11526240, 11552977, 11566351, 11719380, 12200682, 12358913, 12743608, 12782787, 12800151, 12800152, 12941810, 14504097, 14527352, 14580777, 14604973, 14712291, 14990976, 15198352, 15269783, 15297313, 15318246, 15323147, 15334550, 15350305, 15381373, 15704140, 15751040, 15755504, 15767345, 15820957, 15877734, 15956279, 15996926, 16001262, 16019540, 16158826, 16158928, 16197448, 16213359, 16266898, 16333820, 16478880, 16709517, 16772125, 16912588, 17039234, 17146554, 17498558, 17611665, 17690691, 17854671, 17889710, 17905612, 17942916, 18000862, 18328947, 18448165, 18538728, 18617057, 18794461, 19028982, 19109226, 19144982, 19212338, 19262598, 19411627, 19579075, 19631984, 19665068, 19749093, 20032505, 20107154, 20130599, 20194896, 20237425, 20425430, 20494936, 20701601, 20930648, 21135279, 21233834, 21242186, 21330300, 22212479, 22282267, 22337994, 22665135, 22705992, 22845170, 22846743, 22927255, 23294096, 23349309, 23393050, 23432364, 23859904, 23893300, 23958920, 24382688, 24501218, 24564228, 24571676, 24736461, 24798483, 24817983, 24888273, 24897505, 24991719, 25205603, 25302748, 25399948, 25730765, 25793396, 26188848, 26259760, 26264145, 26410102, 26449660, 26857438, 26914337, 27122129, 27496968, 27588400, 27786413, 27798768, 27841777, 28332262, 28408741, 28456746, 28569787, 28646023, 28675638, 28690313, 28819280, 28819864, 28853218, 28917156, 29018079, 29056538, 29155023, 29351999, 29641322, 30188223, 30280786, 30453100, 30578714, 30646906, 31192927, 31201644, 31221196, 31235377, 31325323, 31395602, 31405949, 31515871, 31705930, 31821784, 7549829, 7596184, 7655016, 7845017, 7885037, 7967737, 8025282, 8152249, 8164041, 8219184, 8286732, 8298125, 8319201, 8527389, 8558942, 8562939, 8611455, 8616032, 8620491, 8639852, 8639906, 8640718, 8667651, 8709635, 8824725, 9029018, 9168451, 9204978, 9250788, 9331569, 9365243, 9389682, 9391133, 9529125, 9808573, 9824651		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15226186, 16111539, 26215111, 27114462		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10648423, 10700861, 10719372, 10803509, 10905055, 11066077, 11289145, 11746988, 11809673, 11896537, 12127405, 12539741, 12547160, 12619163, 12791658, 12805060, 12860012, 12874781, 15262427, 15382263, 15621793, 15767345, 15897884, 16044313, 16330434, 16424866, 16682951, 16688745, 16956839, 17551948, 17597811, 17854671, 18000862, 19405140, 19528532, 20303016, 20357826, 20395514, 20861917, 21551233, 21566656, 21937695, 22160057, 22674806, 23365461, 23798388, 23974201, 24085765, 24367003, 26082270, 27123834, 27185517, 27619068, 28253492, 28595195, 28658145, 28871137, 28978671, 30595549, 30869817, 30974389, 30974445, 31707119, 31807181, 7949133, 8194047, 8414510, 8616778, 9209466, 9305600, 9594441		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	LHGDN	12547160		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	CTD_human_DG	8282816		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	10339604, 26237430		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	10803509, 11477664		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia FAB-M6	Myeloid Leukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with 11q23 abnormalities	Myeloid Leukemia With 11q23 Abnormalities	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(9;11)(p22;q23)	Myeloid Leukemia With T(9;11)(P22;Q23)	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, 11q23 abnormalities	Myeloid Leukemia, 11q23 Abnormalities	BEFREE	27123834		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, 11q23 abnormalities	Myeloid Leukemia, 11q23 Abnormalities	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	10339604, 26237430		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	12696071, 8630416, 8640834		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	28669059		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	10846829, 10905055, 11063808, 11157802, 11369654, 11477664, 12095151, 12096348, 12527918, 12805060, 14499692, 14506700, 19120366, 19480936, 28253492, 7529550, 7671224, 7833468, 7948964, 7949133, 8616037, 8988051, 9846019		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	LHGDN	12095151		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	CTD_human_DG	8282816		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	14704037, 15751046, 19142993, 23418555		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	ORPHANET_DG	11579461		★☆☆☆☆ Found in Text Mining only
Acute undifferentiated leukemia	Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17942707, 20541704, 24054986, 24166297, 25534202, 26190263, 27374225, 28411381, 29043883		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10374870, 10374873, 10394590, 10458233, 10557043, 10699895, 10738298, 10773450, 10865968, 11071360, 11526240, 11566351, 12743608, 12800151, 12800152, 12886247, 12941810, 14504097, 14527352, 14670924, 14712291, 14990976, 15198352, 15297313, 15334550, 15350305, 15704140, 15755504, 15767345, 15820957, 15956279, 15996926, 16019540, 16158826, 16158928, 16213359, 16333820, 16478880, 16772125, 16912588, 17039234, 17339183, 17498558, 17611665, 17690691, 17905612, 18000862, 18617057, 18728022, 19144982, 19212338, 19579075, 19665068, 20032505, 20194896, 20425430, 20930648, 21135279, 21233834, 22282267, 22705992, 23393050, 23859904, 23958920, 24564228, 24798483, 25399948, 25675863, 25793396, 26264145, 26410102, 26449660, 26857438, 26914337, 27588400, 27786413, 27798768, 27841777, 28408741, 28456746, 28569787, 28819280, 28853218, 29641322, 30188223, 30280786, 30453100, 31192927, 31221196, 31235377, 31325323, 31395602, 31821784, 7549829, 7596184, 7845017, 7908708, 7967737, 8025282, 8152249, 8219184, 8298125, 8527389, 8639852, 8639906, 8640718, 8667651, 8709635, 9204978, 9250788, 9331569, 9808573		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	10583275, 11921290, 12791658, 14506700, 15075073, 19874631, 22160057, 23251566, 23826213, 25081372, 29307605, 8616778, 9436917		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	22845170		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	9846017		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31606723		★☆☆☆☆ Found in Text Mining only
Amblyopia	Amblyopia	Pubtator	32311999	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	35731275	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	37945831	Associate	★☆☆☆☆ Found in Text Mining only
Angioendotheliomatosis	Angioendotheliomatosis	BEFREE	19722759		★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31606723		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24086714		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24086714		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	34948243	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12972812, 8108133		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	12139726, 16434492, 16938118, 17341662, 17550846, 17965322, 18566324, 20805365, 20971820, 22417203, 22915647, 26285909, 27389053, 30431598, 31648321, 34979982, 35915143, 36107670, 36461002, 37558665	Associate	★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	24611505	Stimulate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26625313, 29858066		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	30431598		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis Ptosis and Epicanthus Inversus	Blepharophimosis-ptosis-epicanthus inversus syndrome	Pubtator	32311999	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	25387813		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36892949	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26795593	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	19328186		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	21239865	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28968975		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	31111759		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12527918, 17854671, 19566940, 21963718, 23065515, 23754336, 24391143, 30396169, 9168451		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21239865, 24288367, 24391143, 30952871, 33653378, 36319643, 36970726	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25106706		★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	BEFREE	16019540, 28536863		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	16019540		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	9573674		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24063517, 32436862, 33606679, 34039707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	31300474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12208766, 25238203		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34972722	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23728943, 31560893, 37945831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26625313, 29858066		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	25633166		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28667779		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30970447	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27144525, 29506494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32436862	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22516068, 27010651		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	34500465	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28851669		★☆☆☆☆ Found in Text Mining only
Cervical spine instability	Cervical spine instability	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10374870, 10394590, 10458233, 10557043, 10738298, 10773450, 10865968, 11071360, 11397475, 11526240, 11566351, 12743608, 12800151, 12800152, 12941810, 14504097, 14527352, 14603332, 14712291, 14990976, 15198352, 15297313, 15334550, 15350305, 15374878, 15590400, 15704140, 15755504, 15767345, 15820957, 15956279, 15996926, 16019540, 16158826, 16158928, 16213359, 16333820, 16478880, 16772125, 16912588, 17039234, 17230064, 17498558, 17611665, 17690691, 17905612, 18000862, 18617057, 18665825, 18923441, 19142993, 19144982, 19212338, 19579075, 19665068, 20032505, 20101025, 20194896, 20211010, 20425430, 20494936, 20930648, 21135279, 21233834, 21566656, 22282267, 22705992, 23393050, 23859904, 23958920, 24564228, 24798483, 25399948, 25692130, 25793396, 25843568, 26264145, 26410102, 26449660, 26857438, 26914337, 27588400, 27786413, 27798768, 27841777, 28408741, 28456746, 28569787, 28598545, 28819280, 28853218, 29641322, 30188223, 30280786, 30453100, 31192927, 31221196, 31235377, 31325323, 31395602, 31707119, 31759364, 31821784, 7549829, 7596184, 7845017, 7967737, 8025282, 8152249, 8219184, 8298125, 8527389, 8639852, 8639906, 8640718, 8667651, 8709635, 9204978, 9250788, 9264370, 9331569, 9808573, 9844930		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	24736461, 25730765		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	14506700, 15010072, 15075073, 15217837, 15262436, 16341046, 17408461, 17597811, 18000862, 19262598, 19528532, 19874631, 20861917, 21566656, 21818844, 26637766, 28253492, 29307605, 30107050, 30869817, 31707119		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31846841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	31589790		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	31589790	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	10381524, 36516779	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	LHGDN	16138344		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28286501		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30431598, 7656208		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18256171		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	37558665	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23259788, 25004829, 28411237		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27259240, 30018131, 34138730	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34039707	Stimulate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10025890, 10400416, 10602411, 11196198, 11719380, 12200682, 12368154, 12537982, 12539741, 12619163, 12696071, 14527352, 14562113, 14603332, 15751040, 16341043, 16682951, 16912588, 17230064, 17452254, 17854671, 18728022, 18992643, 19480936, 19852741, 21048951, 21551233, 22372202, 26079538, 30922345, 31343482, 31371806, 31413090, 7536464, 7658717, 8275471, 8630416, 9041173, 9436917, 9482895, 9529125, 9648554		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31846841		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	25929198		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	12165445		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27993729, 28212715		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23065515		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	25574841		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	ORPHANET_DG	28120103		★☆☆☆☆ Found in Text Mining only
Cornelia de Lange syndrome	Cornelia De Lange Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27993729		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	36690805	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	25574841	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	3304389		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27563068, 30841869, 37772538	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30014449		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29079703		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28663191		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	34469078	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17360766		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22447839, 22845170, 25131304		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	25081372, 36892949	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16912588, 30686774		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33832921	Associate	★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	30305169	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	15637143	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30305169	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12453418, 20541448, 20711175, 22077973, 22197486, 22795537, 23457195, 24886118, 25186178, 25574841, 25724810, 25810209, 25929198, 26795593, 2738900, 27759909, 27777327, 28359930, 7583381, 7802037, 8361504, 8634439		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Elbow hypertrichosis	Elbow Hypertrichosis	BEFREE	27759909		★☆☆☆☆ Found in Text Mining only
Elbow hypertrichosis	Elbow Hypertrichosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	30841869		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	30841869	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26795593	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27320412		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27888797, 29672864		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10679915		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10679915		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	22133876		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	25238203		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	35499757	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21836617, 37974198	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28968975		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21836617, 28968975		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21836617, 26902498, 28338004, 28968975, 31807002		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21836617, 35584667, 36961398	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25929198, 30841869		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	19749093, 19965632, 20237425, 22282267, 23334362, 23958920		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31045571		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	BEFREE	22795537, 24818805, 24886118, 25574841, 25929198, 26544196, 27320412, 27759909, 27777327, 28623346, 28815892, 29203834, 29633245, 30014449, 30305169, 30549396, 30841869, 31250358		★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	ORPHANET_DG	22795537		★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	GENOMICS_ENGLAND_DG	25294932		★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	CLINVAR_DG	25724810, 26633545, 27441994		★☆☆☆☆ Found in Text Mining only
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Growth Deficiency And Mental Retardation With Facial Dysmorphism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30305169, 31168168	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	11063808		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30625324		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32341405	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27993729, 28212715		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	29567781, 9226152	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11165319, 11480574, 12529663, 15492844, 16102580, 16105754, 17074587, 19380030, 20206559, 21740328, 21900057, 23735562, 24522270, 28375985, 28663579, 31251903, 7658717, 9209466, 9593288		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	21900057, 38003662, 9345057	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	12034519, 19711340, 25843568, 9156576, 9226152		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	10025907, 1394235, 9345057		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36892949	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	11167741, 23238285, 26883104, 28535805, 31881375, 37639801, 39940843	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10339604		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17157332		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29079703		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	17157332		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	20805992	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29483588		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	24818805, 30014449		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	31168168	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30721734		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30721734		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21836617	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18538732, 28572162		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31152896		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29203834, 29574747, 30014449, 30841869		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30841869, 31168168	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	10908648, 11068555, 18617060, 27318442, 30143999, 9290955		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	BEFREE	29056538		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	CLINVAR_DG	29255178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome	Kabuki syndrome	Pubtator	24680668, 29255178	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17360766		★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	24736461, 25730765		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32341405	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	37511399	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10092126, 10197596, 10339604, 10381524, 10393173, 10463613, 10516752, 10637508, 10679814, 10700188, 10700861, 10706136, 10706619, 10920186, 11135434, 11187895, 11439343, 11477655, 11579461, 11681416, 11697487, 11718452, 11972513, 12095151, 12124344, 12367585, 12393620, 12490758, 12515728, 12618766, 12620410, 12637319, 12665591, 12686606, 12773566, 12782787, 12800152, 12860012, 14627986, 14630694, 14648661, 14671638, 14701735, 14701873, 14704031, 14704037, 14970849, 14990976, 15087374, 15291802, 15464450, 15542854, 15561678, 15618964, 15721643, 15767345, 15774621, 15779005, 15813846, 15815718, 15826832, 15951289, 16026782, 16034464, 16105754, 16607274, 16720556, 16797254, 16826222, 16857431, 16875930, 17045202, 17045204, 17146554, 17157332, 1720549, 17220341, 17468513, 17543573, 17550846, 17581865, 17584886, 17588788, 17597811, 17611665, 17671196, 17673902, 17875318, 17881901, 17905612, 17908926, 17942707, 17960638, 18224407, 18455126, 18492691, 18510699, 18538732, 18598937, 18598942, 18676843, 18778367, 18806775, 18932267, 18945694, 18977321, 18977325, 18992643, 19074864, 19109563, 19155294, 19232721, 19262598, 19277575, 19277576, 19339691, 19411627, 19445675, 19711340, 19729989, 19748670, 19855078, 19874631, 20072157, 20159561, 20175452, 20223594, 20236311, 20425430, 20454944, 20494936, 20541448, 20553989, 20558618, 20818375, 20829716, 20869771, 20920256, 21048951, 21118195, 21398221, 21414819, 21439245, 21444110, 21518888, 21741597, 21765021, 21800415, 21940819, 21964340, 22427200, 22464800, 22678079, 22846743, 23014531, 23025505, 23035786, 23054645, 23079661, 23259788, 23264595, 23269277, 23284727, 23334362, 23349306, 23448241, 23515098, 23649466, 23801631, 23817177, 23818607, 23826213, 23893660, 24030729, 24054986, 24082086, 24086652, 24150221, 24166297, 24269847, 24301523, 24319157, 24501218, 24509477, 24517546, 24611505, 24735921, 24735925, 24736461, 24798483, 24995990, 25111821, 25131304, 25139354, 25179374, 25264566, 25282333, 25479752, 25510485, 25567132, 25635757, 25730765, 25740345, 25740828, 25773519, 25794446, 25843568, 25873168, 26059450, 26118503, 26164398, 26167872, 26174629, 26186938, 26237430, 26311362, 26329759, 26791235, 26837759, 26944543, 26990989, 27082972, 27123834, 27133822, 27224916, 27282883, 27294782, 27317766, 27325891, 27343252, 27344946, 27374225, 27394641, 27411579, 27593928, 27607576, 27619068, 27698462, 27780967, 27796741, 27819671, 27840424, 27865805, 27888797, 27889185, 28065413, 28123073, 28126968, 28179274, 28202522, 28210006, 28229434, 28232907, 28286501, 28411381, 28412727, 28462918, 28500307, 28572162, 28609652, 28609655, 28615219, 28626219, 28646023, 28741798, 28819280, 28871137, 28921816, 28945229, 29018079, 29056538, 29062045, 29133595, 29152105, 29240787, 29249820, 29254892, 29296788, 29306107, 29317678, 29342133, 29363207, 29384595, 29437725, 29534934, 29603337, 29650777, 29720585, 29724899, 29730189, 29741206, 29777171, 29878897, 29997117, 30062418, 30107050, 30146162, 30172749, 30258537, 30488017, 30489191, 30503706, 30573454, 30626558, 30651276, 30666113, 30679799, 30728174, 30861284, 30869817, 30967619, 30974024, 31076406, 31132972, 31157223, 31161857, 31253937, 31304633, 31325323, 31405949, 31413090, 31493143, 31527241, 31545325, 31623653, 31669202, 31701557, 31821784, 3304389, 7529550, 7549829, 7643616, 7656208, 7718874, 7756657, 7769837, 7808011, 7845017, 8080983, 8142618, 8180386, 8275471, 8309246, 8319201, 8320170, 8339294, 8361504, 8389614, 8414510, 8443374, 8497319, 8555498, 8609712, 8611455, 8616034, 8616778, 8639880, 8681380, 8769569, 8932918, 8948668, 9002963, 9041173, 9122235, 9129043, 9136917, 9160683, 9226152, 9230194, 9233580, 9238046, 9290955, 9326653, 9331569, 9349501, 9379688, 9523205, 9546437, 9573684, 9592986, 9713591, 9766500, 9789061, 9808573, 9808577, 9824651, 9827932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	10381524, 10490642, 10648423, 10706619, 10758153, 10920186, 11274424, 11313484, 11733351, 11986239, 12086872, 12393620, 12461747, 12482972, 12618766, 12637319, 12665591, 14504097, 1465401, 15199122, 15528316, 15556871, 15774615, 15941828, 16138343, 16141323, 16169901, 16216576, 16604156, 1720549, 17581865, 17671196, 17726105, 17908926, 19141473, 19232721, 19445675, 19855078, 20139053, 20362031, 20362230, 20471949, 20494936, 20539022, 20541251, 20558618, 20677832, 20854876, 20869771, 20961854, 21048951, 21444110, 21953510, 21998658, 22422485, 22846743, 22924785, 23035786, 23129768, 23163762, 23210835, 23352661, 23744037, 23818607, 24150221, 24301523, 24509477, 24517546, 24564228, 24631740, 24736461, 24995990, 25137060, 25706398, 25730765, 25873168, 25921540, 26163765, 26267306, 26351841, 26541578, 27391351, 27411579, 27411580, 28076791, 28089908, 28114278, 28572162, 29062045, 29133595, 29563185, 29665865, 29777171, 29997176, 30459160, 30482069, 30489191, 30679799, 31251903, 31253180, 31527241, 31727944, 31855575, 31881375, 32216001, 32437908, 32634241, 32675439, 33035331, 33375773, 33419897, 34196551, 34263728, 34304246, 34320268, 34521919, 34550633, 34551297, 34597364, 34639154, 34864916, 35245435, 35301220, 35332778, 35525905, 35839448, 35933338, 35945623, 36042201, 36455613, 36479909, 36595475, 36705973, 36766705, 37036970, 37148657, 37190104, 37335206, 37686014, 38048400, 7718874, 7756657, 7833468, 8180386, 8260707, 8286732, 8298125, 8320170, 8329709, 8361504, 8389614, 8634439, 8639880, 9002963, 9108076, 9136917, 9226152, 9238046, 9326653, 9353299, 9616138, 9789061, 9808573	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	CTD_human_DG	11731795, 12937054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	LHGDN	12138900, 12203795, 12665591, 14990976, 15199122, 15815718, 17581865, 17612494, 17698583, 17854671, 17889710, 17905612, 18566324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	22665483	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	17671196, 23238285, 24125990, 28572162, 35584376, 36219502, 7718874	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10381524, 10490642, 10648423, 10681437, 10706619, 11069025, 11094164, 11110714, 11238904, 11369654, 11438682, 11526240, 11733351, 11842107, 12453419, 12461747, 12637319, 12665591, 12773566, 12782787, 12791658, 12805060, 12946992, 15528316, 15626757, 15774615, 15851483, 16138343, 16404744, 16415515, 16493618, 16630339, 17033956, 17044034, 17250889, 17341662, 17550846, 17581865, 17726105, 18172006, 18492691, 18566324, 18819096, 18931459, 19005567, 19264358, 19445675, 19463768, 19528532, 19530238, 19556245, 19835597, 20139053, 20362230, 20539022, 20558618, 20805992, 20808941, 20920256, 20961854, 20966504, 20971820, 21474990, 21551233, 21738341, 21791472, 21881046, 21900057, 21937695, 22012064, 22417203, 22422485, 22685031, 22846743, 22924785, 23091311, 23210835, 23418555, 23690411, 23702683, 23798388, 23818607, 23941359, 23974201, 23994619, 24125990, 24150221, 24517546, 24564228, 24631740, 24634210, 24659740, 24769646, 25022553, 25031740, 25081372, 25381129, 25793396, 25805812, 26080064, 26375248, 26387756, 26419938, 26762252, 27119507, 27373985, 27389053, 27411579, 27411580, 27535106, 27563068, 27698101, 27732946, 28089908, 28114278, 28582914, 28701730, 29567781, 29665865, 29688850, 29898879, 30374167, 30381403, 30387535, 30431598, 30548174, 30568163, 30679799, 30926971, 31253180, 31348835, 31648321, 31649131, 31727944, 31834935, 31855575, 32127641, 32209310, 32216042, 32323795, 32437908, 32511893, 32591645, 32634241, 32675439, 32764680, 32991719, 33020282, 33048949, 33054128, 33059120, 33094319, 33289299, 33375773, 33419897, 33469688, 34048275, 34120595, 34196551, 34200630, 34354240, 34384895, 34405474, 34446939, 34489550, 34502319, 34576219, 34588432, 34597364, 34619758, 34639154, 34964255, 34979982, 35017466, 35301220, 35534777, 35584376, 35688861, 35832114, 35833755, 35924580, 36053276, 36077220, 36107670, 36171097, 36171271, 36333382, 36436494, 36442087, 36479909, 36485136, 36705973, 36781850, 36793248, 36892949, 37019990, 37055414, 37063434, 37190104, 37335206, 37380943, 37478796, 37480164, 37595549, 37813299, 37833915, 37839675, 37891368, 37904054, 38003662, 38084551, 38096371, 39361146, 39535162, 39768795, 39823827, 40133836, 40149468, 40243655, 40459635, 7662954, 7949133, 7991593, 8016145, 8058765, 8219184, 8260707, 8298125, 8329709, 8378328, 8389614, 8506328, 8630416, 8634439, 8639852, 8639880, 9108076, 9136917, 9238046, 9268387, 9353299, 9389684, 9391133, 9482895, 9600980, 9616138, 9616163, 9679199, 9787135, 9808573, 9827932	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	10908648	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	24769646	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	17463288, 8282816		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10197596, 10374852, 10393173, 10394590, 10400416, 10422627, 10484978, 10485469, 10516752, 10526538, 10583275, 10602437, 10612801, 10666245, 10681437, 10706619, 10719368, 10738298, 10803509, 10825008, 10846829, 10865968, 10886213, 10905055, 10942806, 10980622, 11063808, 11068555, 11170279, 11187895, 11266362, 11284033, 11314021, 11319806, 11355922, 11477655, 11480574, 11552977, 11739161, 11746988, 11753604, 11809673, 11840285, 11896540, 11911106, 11939265, 11981001, 11999359, 12063392, 12095151, 12124344, 12149299, 12242306, 12393282, 12461747, 12481904, 12537982, 12539741, 12619163, 12660026, 12696071, 12759922, 12782787, 12791658, 12800151, 12802909, 12805060, 12810254, 12860012, 12885463, 12946992, 14506700, 14506704, 14580777, 14654972, 14671638, 14701873, 14978793, 14999297, 15075073, 15124693, 15188459, 15323147, 15350305, 15377469, 15382263, 15528316, 15621793, 15710585, 15721641, 15721643, 15767345, 15774615, 15786493, 15815718, 15820957, 15994285, 15996925, 16001262, 16044313, 16085566, 16102580, 16104873, 16111539, 16114057, 16138343, 16158826, 16158928, 16213359, 16266898, 16281072, 16328057, 16330435, 16333820, 16341046, 16424866, 16425025, 16450356, 16493618, 16503549, 16682951, 16688745, 16720556, 16772125, 16843108, 16849538, 16888613, 16956839, 16965385, 16990610, 17044034, 17045204, 17284365, 17341662, 17408461, 17453918, 17550846, 17551948, 17575318, 17597811, 17854671, 17881901, 17905612, 17942707, 18000862, 18172006, 18264136, 18367831, 18452069, 18474298, 18492691, 18538728, 18566324, 18617060, 18819096, 18832181, 18992643, 19120366, 19194466, 19445675, 19480936, 19528532, 19748670, 19835597, 19874631, 19900863, 19930410, 19963115, 20101025, 20113838, 20357826, 20362230, 20395514, 20558618, 20565746, 20682395, 20686504, 20691474, 20804918, 20861917, 20943269, 20971820, 21258047, 21496004, 21551233, 21562049, 21566656, 21665178, 21750091, 21765021, 21813447, 21881046, 21940819, 21959947, 22133876, 22160057, 22417203, 22427200, 22613471, 22665135, 22674806, 22677129, 22682626, 22845170, 22846743, 22902925, 23008312, 23025505, 23054645, 23178754, 23340173, 23365461, 23418555, 23432364, 23564351, 23580398, 23624644, 23645565, 23725386, 23770013, 23772754, 23798388, 23818607, 23826732, 23941359, 23974201, 24030729, 24056683, 24085765, 24089521, 24150221, 24162813, 24166297, 24189654, 24344198, 24367003, 24517546, 24571676, 24611505, 24828867, 24991719, 25081372, 25234168, 25322685, 25387813, 25510485, 25517911, 25534202, 25650089, 25758097, 25805812, 25892123, 26079538, 26082270, 26159683, 26174629, 26222068, 26237430, 26375248, 26387756, 26556690, 26588911, 26728554, 26762252, 26791235, 26847026, 26914337, 26927674, 26944543, 27013212, 27071307, 27123834, 27133822, 27280396, 27340869, 27344946, 27374225, 27389053, 27397025, 27411579, 27496968, 27561414, 27607576, 27619068, 27780967, 27819671, 28017614, 28053194, 28089908, 28179274, 28202522, 28253492, 28411381, 28412727, 28500307, 28595195, 28609655, 28646565, 28658145, 28669059, 28745571, 28778865, 28871137, 28886273, 28911906, 28945229, 28978671, 29043883, 29127121, 29154208, 29235481, 29296851, 29307605, 29320732, 29363207, 29384595, 29437725, 29459712, 29482582, 29584620, 29590629, 29605894, 29660158, 29688850, 29692408, 29774127, 29857126, 29878897, 29945938, 30143999, 30146162, 30203571, 30315824, 30422351, 30431598, 30528456, 30568163, 30581117, 30595549, 30624859, 30635626, 30679799, 30819903, 30869817, 30974445, 31031188, 31050834, 31111759, 31160638, 31161857, 31270081, 31405949, 31413090, 31425921, 31434704, 31558671, 31590682, 31653912, 31669202, 31697815, 31697837, 31698332, 31707119, 31727944, 31789407, 31807181, 31822659, 31834935, 7549829, 7656208, 7712464, 7769837, 7885037, 7991593, 8016145, 8044771, 8242616, 8260707, 8275471, 8282816, 8319201, 8361504, 8389614, 8527389, 8558942, 8596958, 8616778, 8616868, 8620491, 8630416, 8640834, 8667651, 8681380, 8703846, 8709635, 8814454, 8839887, 8892693, 8932918, 9010221, 9041173, 9108076, 9122235, 9136917, 9160687, 9242213, 9264397, 9305618, 9331569, 9352791, 9372085, 9389684, 9426057, 9482895, 9485036, 9523205, 9529125, 9600980, 9616163, 9679199, 9694699, 9716602, 9790509, 9808573, 9827932, 9885982, 9933140		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	10339604, 26237430		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	11809673, 11921290, 12461747, 12646957, 12696071, 14580777, 15621793, 16086288, 16138343, 17205059, 17341662, 18566324, 18642054		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	11068555, 18617060, 27318442, 9290955		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	LHGDN	17280715		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	23624644, 8616868, 9846017		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18320596, 23728943, 24379610, 25004829, 25475418, 29142068		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22634756		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	19951583		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27904655, 36213329	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27904655		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	12665971, 19631984, 20175452, 20236313, 22665483, 22927255, 23178754, 24817983, 26259760, 29155023, 30573454, 30578714		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	LHGDN	16357944		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	CTD_human_DG	17463288		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23269277, 24635731, 25131304, 29741206, 3304389, 7529550		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23457195, 37460547, 8361504	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	11433529		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12539741		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	12539741		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27089181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	10463613		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30625324		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	24817983		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12527918, 19566940, 21963718, 23065515, 23754336, 24391143, 30396169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25633166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28667779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28131992		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20955789, 22722839, 24200674, 24269899, 27219490, 27268279, 29089489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22484628, 23259788, 24744582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26625313, 29858066		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10222653, 10393173, 10700188, 10980622, 11355922, 12034519, 12223315, 12665971, 12946992, 12957280, 15561678, 15674412, 15710585, 15826832, 16026782, 16197448, 16275934, 16607274, 17045202, 17341662, 17513515, 18806775, 19028982, 20143449, 20541704, 21118195, 22137486, 22665483, 22926525, 23015417, 23148371, 23238285, 23754336, 24635731, 24813172, 25123655, 25179374, 25264566, 25794446, 26410102, 26833731, 26974154, 27588400, 28182322, 28411237, 28726783, 28785923, 29474905, 29730189, 29738674, 29925347, 30221689, 30548174, 30679323, 30788039, 31090199, 31381950, 31560893, 7756657, 7761425, 7967737, 8025282, 8640718, 8640834, 9713591		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19566940		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269, 23754336		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	24817983		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	23457195		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24189654, 28726783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	24189654	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	28726783	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	20072157, 26927674		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20435060		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30932940		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30305169	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	10825008, 15064866, 17250889, 22137486, 23949951		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	20299091, 20844566, 22372202, 30019150, 7689231		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	ORPHANET_DG	26276768, 27069254, 29072953		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	30143999		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12453418, 20541448, 20711175, 22077973, 22197486, 22795537, 23457195, 24886118, 25186178, 25574841, 25724810, 25810209, 25929198, 26795593, 2738900, 27759909, 27777327, 28359930, 7583381, 7802037, 8361504, 8634439		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	30841869	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12453418, 20541448, 20711175, 22077973, 22197486, 22795537, 23457195, 24886118, 25186178, 25574841, 25724810, 25810209, 25929198, 26795593, 2738900, 27759909, 27777327, 28359930, 7583381, 7802037, 8361504, 8634439		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11313693, 25945832		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35078859	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28844667, 3304389		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	3304389	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	11063808, 11284033, 31371806, 31558671		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10825008, 11063808, 11068555, 11284033, 12393282, 15064866, 15325092, 16425025, 17250889, 17550846, 17551948, 18195096, 19277575, 20072149, 20691474, 22137486, 23645565, 23949951, 25387813, 28210006, 31160638, 31334569, 31371806, 31425921, 31558671, 8640834, 9136917, 9166831, 9594441		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18656699		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	17250889, 19445675, 19569249, 22012064, 23690411, 25031740, 31334569, 34979982, 35078859, 35584376, 35915143, 37419244, 37558665, 39711284, 9136917, 9166831, 9226152	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	10860745, 10918392, 11701946, 12368154, 12527918, 14701735, 15322560, 15899392, 17671196, 20236310, 22427200, 22902925, 23175388, 27797721, 28476187, 7967737, 9277049, 9418860		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	17463288, 8282816		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15820957, 16213359, 24162813, 8389614		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	14990976		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	23564351, 7656208		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	14654070, 20194885		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	27993729, 28807201		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20858288	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	30625324		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10519360, 10612801, 11135430, 12223315, 12782787, 15786493, 16357833, 16424866, 16607274, 17513515, 17671196, 18224407, 19445675, 19566940, 19748670, 22199269, 22814291, 22926525, 23065515, 23728943, 23868976, 24635731, 25004829, 25031740, 25131304, 25387813, 25633166, 26188848, 26192324, 26791235, 26833731, 27133822, 27320920, 27888797, 28500307, 28626219, 28968975, 29272887, 29435122, 29482581, 29925347, 30089852, 30396169, 30625324, 30788039, 31028363, 31050834, 31564898, 7512368, 7712464, 8616034, 8824725, 9573674, 9573684		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	12613515, 23979985, 24631740, 7687455		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10706619, 18195096		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10706619, 34550633	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30769159		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatoses	Neurofibromatosis	Pubtator	20620601	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	18172006	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	19398129	Associate	★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	24619942		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19900863		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19951583		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	37525498	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37525498	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28131992		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28131992		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22046413, 36690805	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	11920839		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29960099		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	12660026, 17044870		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	28807201		★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	38404150	Associate	★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	15751040, 19131787, 19995953, 20829716, 23893660, 26974154, 30209120, 30553463		★☆☆☆☆ 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	10588740, 11196198, 11719380, 12743608, 12764373, 12791662, 14603332, 15098014, 15674412, 15751040, 15755504, 16085566, 16123216, 16956839, 17039234, 19131787, 19995953, 20018760, 20194896, 20494936, 20829716, 23238285, 23893660, 26266519, 26463423, 26837759, 26857438, 26907630, 26974154, 27084248, 27119507, 27786413, 30553463, 30635633, 30679323, 30973486, 31395741, 7949140		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	12743608, 16123216, 7949140		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10457404, 10602437, 10607691, 10679915, 10825008, 11187895, 11196198, 11369654, 11493704, 11719380, 12200682, 14580777, 14604973, 15269783, 15381373, 15751040, 16001262, 16019540, 16478880, 16709517, 17146554, 17854671, 17889710, 17942916, 18328947, 18448165, 18538728, 18794461, 19262598, 19411627, 19631984, 20032505, 20107154, 20130599, 20194896, 20237425, 20494936, 21135279, 21242186, 22052166, 22212479, 22665135, 22705992, 22710816, 22846743, 22927255, 23349309, 23893300, 24382688, 24501218, 24635731, 24736461, 24817983, 24888273, 24991719, 25205603, 25493458, 25793396, 26259760, 26410102, 27122129, 28332262, 28646023, 28675638, 28917156, 29018079, 29155023, 30453100, 30578714, 31201644, 31395602, 31405949, 7549829, 7885037, 8058765, 8164041, 8286732, 8298125, 8824725, 9168451, 9250788, 9365243, 9389682, 9391133, 9426057, 9482895, 9485036, 9529125		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	11943339, 12732503, 12743608, 14562113, 14580777, 15618957, 16138344, 16215946, 16386788, 17268512		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	24736461, 25730765		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10706136, 15387886, 16261608, 16358311, 16493618, 17369128, 17968322, 18172006, 19631984, 20494936, 21172890, 22710816, 24740809, 26059450, 27797721, 30733302, 8527389, 8616868, 8703846		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29852184		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20955789, 24200674, 24269899, 27219490, 27268279, 29089489		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27268279, 35014621, 38050021	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	28815892		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	12930385, 17550846		★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	29781627		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23065515		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	17360766		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	24024160		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	24024160		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22325059		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Roifman syndrome	Roifman syndrome	Pubtator	28623346	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28535805, 31136005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	32461620	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17942719, 18814864, 27419650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17942719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17942719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	12539741, 16688745, 17550846, 17551948, 18640063, 21156246, 23054645, 27119507, 7549829, 7827204, 8319201, 9436917, 9616163		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	3304389	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941188		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	3304389		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25275298, 29879932	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24744582		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	22484628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	28039579	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	BEFREE	30721734		★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28132855		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12095151		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	27373985, 35731275	Associate	★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36319643	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated type acute leukemia	Leukemia	ORPHANET_DG	11579461		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	27089181		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31233191	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	22926525		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32436862	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver Syndrome	BEFREE	24886118, 25810209, 29574747, 30014449, 31250358, 31710778		★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Wiedemann-Steiner syndrome	Wiedemann-Steiner Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wrinkly skin syndrome	Wrinkly Skin Syndrome	BEFREE	24886118, 25810209, 29574747, 30014449, 31250358, 31710778		★☆☆☆☆ Found in Text Mining only
Wrinkly skin syndrome	Wrinkly Skin Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only