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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Kabuki Syndrome	Kabuki syndrome 1	rs1555044700	N/A
Mental retardation	intellectual disability	rs1565278132, rs1591371152	N/A
Wiedemann-Steiner Syndrome	wiedemann-steiner syndrome	rs1555049702, rs797044565, rs1591312430, rs1555035779, rs886041834, rs398122878, rs1555138552, rs1131691433, rs1555045816, rs797045051, rs1591374984, rs1555050211, rs1057518074, rs398122879, rs1591371152, rs1555046568, rs797045656, rs1591379711, rs782297546, rs398122880, rs1131692268, rs1555038029, rs782477344, rs1565286640, rs1057519403, rs387907275, rs1591381084, rs1135401764, rs1555034779, rs863224887, rs1555035511, rs1057519407, rs398122881, rs1591383060, rs1555037629, rs868985556, rs863224889, rs1591373553, rs1565280934, rs1057519408, rs587783678, rs1591384640, rs1555038090, rs1555039343, rs863224895, rs1591373923, rs1591266263, rs1057520177, rs1131691503, rs587783676, rs1591393351, rs1555052879, rs863224888, rs1591283372, rs1591283017, rs1064793451, rs1555045177, rs587783679, rs1555043796, rs1555036801, rs886041875, rs1591385068, rs1591385183, rs1555043939, rs1555047266, rs587783680, rs1591282224, rs1555038111, rs886041896, rs1949984032, rs1591385663, rs1085307857, rs1555035550, rs1591282615, rs1555038125, rs886041856, rs1591286581, rs1131691799	N/A
Cornelia De Lange Syndrome	cornelia de lange syndrome 1	rs727503777	N/A
Microcephaly	microcephaly	rs1949984655, rs886039658	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Colorectal Cancer	Colorectal cancer	KMT2A overexpression is associated with malignant tumor growth in vivo and shortened survival in patients with CRC.	34138730	CBGDA
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	22685031
Aging Premature	Associate	24564228
Amblyopia	Associate	32311999
Anemia Hemolytic	Associate	35731275
Anemia Refractory with Excess of Blasts	Associate	12930385
Aneuploidy	Associate	37945831
Autism Spectrum Disorder	Associate	34948243
Bjornstad syndrome	Associate	12139726, 16434492, 16938118, 17341662, 17550846, 17965322, 18566324, 20805365, 20971820, 22417203, 22915647, 26285909, 27389053, 30431598, 31648321, 34979982, 35915143, 36107670, 36461002, 37558665
Bjornstad syndrome	Stimulate	24611505
Blepharophimosis Ptosis and Epicanthus Inversus	Associate	32311999
Blood Coagulation Disorders	Associate	36892949
Brain Diseases	Associate	26795593
Brain Ischemia	Associate	21239865
Breast Neoplasms	Associate	21239865, 24288367, 24391143, 30952871, 33653378, 36319643, 36970726
Carcinogenesis	Associate	24063517, 32436862, 33606679, 34039707
Carcinoid Tumor	Associate	31300474
Carcinoma Basal Cell	Associate	34972722
Carcinoma Hepatocellular	Associate	23728943, 31560893, 37945831
Carcinoma Non Small Cell Lung	Associate	33655698
Carcinoma Pancreatic Ductal	Associate	30970447
Carcinoma Renal Cell	Associate	27144525, 29506494
Carcinoma Squamous Cell	Associate	32436862
Carcinoma Transitional Cell	Associate	21822268
Cell Transformation Viral	Associate	12637319, 15674412
Central Nervous System Diseases	Associate	34500465
Chondromatosis Synovial	Associate	31589790
Chondrosarcoma	Associate	31589790
Chromosomal Instability	Associate	10381524, 36516779
Chromosome 11 partial trisomy 11q	Associate	9108076, 9136917
Chromosome 9 partial trisomy 9p	Associate	23941359
Chromosome Aberrations	Associate	11167824, 21048951, 34657128, 8630416, 9345057
Cirrhosis Familial	Associate	37558665
Colorectal Neoplasms	Associate	27259240, 30018131, 34138730
Colorectal Neoplasms	Stimulate	34039707
Communicable Diseases	Associate	3304389
Cushing Syndrome	Associate	36690805
Cytomegalovirus Infections	Associate	34469078
De Lange Syndrome	Associate	25574841
Death	Associate	12930385, 25692130, 32068246, 34979982
Death	Stimulate	32419244
Developmental Disabilities	Associate	27563068, 30841869, 37772538
Diabetic Foot	Associate	34469078
Digeorge Syndrome Velocardiofacial Syndrome Complex 2	Associate	9600980
digital ulcers	Associate	37813299
Disseminated Intravascular Coagulation	Associate	25081372, 36892949
Down Syndrome	Associate	33832921
Drug Related Side Effects and Adverse Reactions	Associate	20215641, 34500465, 37742392
Dupuytren Contracture	Associate	30305169
Dwarfism Pituitary	Associate	15637143
Dyslipidemias	Associate	30305169
Emanuel syndrome	Associate	11493704, 11886378, 16709517, 30679323, 8286732, 8353274, 9389684
Endocardial Fibroelastosis	Associate	34469078
Eosinophilia	Associate	30841869
Epilepsy	Associate	26795593
Fetal Death	Associate	9827932
Fever	Associate	32675439
Fibrosarcoma	Associate	31592798, 32461620
Fibular hypoplasia and complex brachydactyly	Associate	32461620
Fused Kidney	Associate	37813299
Gastrointestinal Stromal Tumors	Associate	35499757
Genetic Diseases Inborn	Associate	31168168, 33419897, 39711284
Genomic Instability	Associate	33419897
Glioblastoma	Associate	21836617, 37974198
Glioma	Associate	21836617, 35584667, 36961398
Glossoptosis	Associate	30305169
Growth Disorders	Associate	30305169, 31168168
Heart Defects Congenital	Associate	32341405
Hematologic Diseases	Associate	29567781, 9226152
Hematologic Neoplasms	Associate	21900057, 38003662, 9345057
Hemorrhage	Associate	36892949
Hepatitis B	Associate	23238285, 26883104, 28535805, 31881375, 37639801, 39940843
Hyperplasia	Stimulate	20805992
Hypertrichosis	Associate	31168168
Hypoxia	Stimulate	21836617
Hypoxia Brain	Stimulate	21836617
Infections	Associate	17578910, 31727944, 34979982
Inflammation	Associate	23107779, 37511399
Intellectual Disability	Associate	30841869, 31168168
Isodicentric Chromosome 15 Syndrome	Associate	18299449, 25031740
Jacobsen Distal 11q Deletion Syndrome	Associate	12805060, 28114278, 7718874, 8180386, 8353274, 8378328, 9166831
Job Syndrome	Associate	21239865
Kabuki syndrome	Associate	24680668, 29255178
Learning Disabilities	Associate	32341405
Leiomyoma	Associate	37511399
Leukemia	Associate	10381524, 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, 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, 7833468, 8180386, 8260707, 8286732, 8298125, 8320170, 8361504, 8634439, 8639880, 9002963, 9136917, 9226152, 9238046, 9326653, 9616138, 9789061, 9808573
Leukemia B Cell	Associate	10666188, 37742392
Leukemia Biphenotypic Acute	Associate	11406628, 11842107, 12461747, 15098014, 15199122, 15674412, 15877734, 20505276, 20558618, 21980945, 22924785, 27119507, 28535805, 29997176, 30679323, 30772833, 31253180, 32419244, 33727310, 34933343, 34979982, 35484682, 35933338, 36219502, 37558665, 39384181, 40459635, 7689231, 8298125, 9808573
Leukemia Lymphoid	Associate	22665483
Leukemia Megakaryoblastic Acute	Associate	20620601, 26215111, 27114462, 30455225, 37478796
Leukemia Monocytic Acute	Associate	10648423, 11066077, 24727659, 26762252, 32216042, 40149468
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	25888368
Leukemia Myeloid	Associate	17671196, 23238285, 24125990, 28572162, 35584376, 36219502, 7718874
Leukemia Myeloid Acute	Associate	10381524, 10490642, 10648423, 10681437, 10706619, 11069025, 11094164, 11110714, 11238904, 11369654, 11438682, 11526240, 11733351, 11842107, 12461747, 12637319, 12665591, 12773566, 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, 7949133, 7991593, 8058765, 8260707, 8298125, 8378328, 8506328, 8630416, 8634439, 8639852, 8639880, 9108076, 9136917, 9238046, 9268387, 9389684, 9391133, 9482895, 9600980, 9616138, 9616163, 9787135, 9808573, 9827932
Leukemia Myelomonocytic Acute	Associate	12805060, 19120366
Leukemia Myelomonocytic Juvenile	Associate	10908648
Leukemia Plasma Cell	Associate	35770320
Leukemia Prolymphocytic T Cell	Associate	3304389
Leukemia Promyelocytic Acute	Associate	24769646
Leukemia T Cell	Associate	11972513, 19631984, 19895613, 20701602, 21980945, 21998658, 23432364, 24571676, 32721124, 35730653, 36922593, 37996430, 9713591, 9827932
Leukemia T Cell	Stimulate	17539775
Leukocytosis	Associate	25081372
Lupus Erythematosus Systemic	Associate	27904655, 36213329
Lymphoma	Associate	23457195, 37460547, 8361504
Lymphoma B Cell	Associate	19722759, 22213612, 23457195, 37490879
Lymphoma B Cell Marginal Zone	Associate	15272275
Lymphoma Large B Cell Diffuse	Associate	22845170, 36171097
Lymphoma T Cell	Associate	8499638
Maxillary Sinus Neoplasms	Associate	30772833
Melanoma	Associate	24189654
Melanoma	Stimulate	28726783
Mental Disorders	Associate	39336746
Microcephaly	Associate	30305169
Movement Disorders	Associate	30841869
Multiple Endocrine Neoplasia Type 1	Associate	15640349
Multiple Myeloma	Associate	35078859
Multiple Sclerosis	Associate	3304389
Muscular dystrophy congenital with central nervous system involvement	Associate	35933338
Myelodysplastic Syndromes	Associate	17250889, 19445675, 19569249, 22012064, 23690411, 25031740, 31334569, 34979982, 35078859, 35584376, 35915143, 37419244, 37558665, 39711284, 9136917, 9166831, 9226152
Nasopharyngeal Carcinoma	Associate	20858288
Neoplasm Metastasis	Inhibit	37335206
Neoplasm Residual	Associate	36461002, 37019990
Neoplasms	Associate	11972513, 12946992, 16433901, 17250889, 17671196, 19141473, 19445675, 21998658, 22665483, 23045699, 23728943, 24063517, 24147083, 25031740, 27563068, 28182322, 29133595, 29284071, 29654067, 29925347, 30431598, 30548174, 30970447, 31253180, 31846841, 32721124, 34039950, 34194582, 34196551, 34663924, 34972722, 35211628, 36319643, 36479909, 36766705, 36970726, 37019972, 37419244, 37945831, 9713591
Neoplasms Post Traumatic	Associate	30431598
Neoplasms Second Primary	Associate	21239865, 28076841, 33579957
Neuroblastoma	Associate	10706619, 34550633
Neuroendocrine Tumors	Associate	23127113
Neurofibromatoses	Associate	20620601
Neurofibromatosis 1	Associate	18172006
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	19398129
Oncogene Addiction	Associate	30374167, 37813299
Oral Submucous Fibrosis	Associate	38050610
Otitis Externa	Associate	30305169
Ovarian Diseases	Associate	37525498
Ovarian Neoplasms	Associate	37525498
Pancreatic Intraductal Neoplasms	Associate	28776573
Pancreatic Neoplasms	Associate	22046413, 36690805
Penile Induration	Associate	12946992
Personality Disorders	Associate	27411579, 30489191
Philadelphia Chromosome	Associate	36124444
Plasmablastic Lymphoma	Associate	33297669
Polycystic Kidney Autosomal Dominant	Associate	38404150
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	12637319, 19144982, 23107779, 25699572, 30487223, 34148065, 36124444, 36214866, 36233173, 36674872, 37742392, 38003662, 40010436
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	10648423, 11274424, 11493704, 11719380, 12637319, 12730115, 12829790, 14596906, 14604973, 15098014, 15226186, 15297313, 15956279, 16123216, 16169901, 16478880, 16709517, 18024407, 19144982, 19657114, 19665068, 19835597, 19855078, 19965632, 20032505, 20215641, 20362230, 20494936, 20553989, 21239865, 21242186, 21738341, 21900057, 21953510, 22528566, 22846743, 22911440, 23107779, 23148371, 23238285, 23349309, 23393050, 24125990, 24740809, 24816234, 25031740, 25699572, 25730765, 25793396, 25843568, 26883104, 27119507, 27391351, 27856324, 28076841, 28535805, 28572162, 28701730, 29794792, 29903756, 30679323, 31243293, 31370801, 31869410, 31894899, 32242051, 32347296, 32845001, 33150840, 33405950, 33419897, 33741715, 33895809, 34304246, 34500465, 34525185, 34575904, 34646384, 34663924, 34864916, 34933343, 35839448, 35950535, 36042201, 36214866, 36380143, 36461002, 36674872, 36781850, 36833191, 37100882, 37639801, 37686014, 37917159, 38385617, 7579356, 8286732, 8298125, 8361504, 8639906, 9389682, 9391133, 9808573
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10583275, 10886213, 11167824, 12199778, 12358913, 12472570, 12637319, 15147374, 15774621, 16433901, 19120366, 19631984, 20065082, 22845170, 23025505, 23432364, 24571676, 24611505, 25302748, 25312094, 26188848, 26205622, 26403224, 27022003, 29978456, 30772833, 31612466, 32068246, 32114880, 34354240, 34785111, 35730653, 36321792, 36833191, 36843114, 36922593, 37996430, 39793727
Prostatic Neoplasms	Associate	27268279, 35014621, 38050021
Prostatitis	Associate	30548174
Renal Insufficiency	Associate	25081372
Ring Chromosome 20 Syndrome	Associate	25399948
Roifman syndrome	Associate	28623346
Rubinstein Taybi Syndrome	Associate	30806792, 32641752
Sarcoma	Associate	32461620
Sarcoma Myeloid	Associate	11733351, 25081372, 30922345, 33150840
Shwachman Diamond Syndrome	Associate	17539775, 35893049
Skin Diseases	Associate	3304389
Squamous Cell Carcinoma of Head and Neck	Associate	25275298, 29879932
Stomach Neoplasms	Associate	28039579
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	14670924
Thakker Donnai syndrome	Associate	37772538
Thrombocytopenia	Associate	27373985, 35731275
Thymoma	Associate	33847622, 34219124
Thymus Neoplasms	Associate	33847622
Translocation Genetic	Associate	7718874
Triple Negative Breast Neoplasms	Associate	36319643
Tumor Lysis Syndrome	Associate	25081372
Uniparental Disomy	Associate	25031740
Urinary Bladder Neoplasms	Associate	31233191
Uterine Cervical Neoplasms	Associate	32436862
Virus Diseases	Associate	34850113