Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4297
Gene name Gene Name - the full gene name approved by the HGNC.	Lysine methyltransferase 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KMT2A
Synonyms (NCBI Gene) Gene synonyms aliases	ALL-1, ALL1, CXXC7, GAS7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	WDSTS
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

Show/Hide all(1)

Transcription factor	Regulation	Reference
SOX4	Unknown	20019190

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003680	Function	Minor groove of adenine-thymine-rich DNA binding	NAS	1423624
GO:0005515	Function	Protein binding	IPI	11313484, 15199122, 15960975, 18840606, 19187761, 19556245, 20541251, 20541477, 20581860, 20818375, 20969867, 21113167, 21220120, 22327296, 22665483, 22722839, 22936661, 23870121, 24981860, 25082813, 25305204, 25751424, 26886794, 27705803, 29997176
GO:0005634	Component	Nucleus	IDA	11313484, 15640349, 22046413
GO:0005634	Component	Nucleus	NAS	1423624
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0008270	Function	Zinc ion binding	IDA	16990798, 19187761, 29276034
GO:0032411	Process	Positive regulation of transporter activity	IMP	20861184
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0035097	Component	Histone methyltransferase complex	IBA	21873635
GO:0035097	Component	Histone methyltransferase complex	IDA	19556245
GO:0035162	Process	Embryonic hemopoiesis	TAS	15618964
GO:0042800	Function	Histone methyltransferase activity (H3-K4 specific)	EXP	22012064
GO:0042800	Function	Histone methyltransferase activity (H3-K4 specific)	IBA	21873635
GO:0042800	Function	Histone methyltransferase activity (H3-K4 specific)	IDA	19187761, 19556245
GO:0042800	Function	Histone methyltransferase activity (H3-K4 specific)	IMP	15960975
GO:0042802	Function	Identical protein binding	IPI	10656681, 11313484
GO:0042803	Function	Protein homodimerization activity	IDA	11313484
GO:0043984	Process	Histone H4-K16 acetylation	IMP	15960975
GO:0044648	Process	Histone H3-K4 dimethylation	IDA	25561738
GO:0045322	Function	Unmethylated CpG binding	IDA	16990798, 20010842, 29276034
GO:0045652	Process	Regulation of megakaryocyte differentiation	TAS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	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	IMP	20010842
GO:0051568	Process	Histone H3-K4 methylation	IBA	21873635
GO:0051568	Process	Histone H3-K4 methylation	IDA	19556245
GO:0051568	Process	Histone H3-K4 methylation	IMP	15960975
GO:0051571	Process	Positive regulation of histone H3-K4 methylation	ISS
GO:0065003	Process	Protein-containing complex assembly	IDA	15199122
GO:0070577	Function	Lysine-acetylated histone binding	IDA	19187761
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071440	Process	Regulation of histone H3-K14 acetylation	ISS
GO:0080182	Process	Histone H3-K4 trimethylation	IDA	20861184
GO:0097692	Process	Histone H3-K4 monomethylation	IDA	25561738, 26324722
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS
GO:1905642	Process	Negative regulation of DNA methylation	IMP	20010842
GO:2000615	Process	Regulation of histone H3-K9 acetylation	ISS

MIM	HGNC	e!Ensembl
159555	7132	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

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Cushing syndrome Transcriptional misregulation in cancer		PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs

Show/Hide Causal Diseases (37)

Disease term	Disease name	dbSNP ID	References
Causal
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	22484628
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	22484628
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Cornelia de lange syndrome	Cornelia De Lange Syndrome, Cornelia de Lange Syndrome 1, Cornelia de Lange syndrome	rs121918264, rs121918265, rs1554011042, rs1561222491, rs1554016981, rs121918266, rs121918267, rs121918268, rs1561231553, rs121918269, rs724159980, rs863223279, rs387907212, rs398122888, rs397515415 View all (340 more)	28120103
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)	22484628
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Kabuki syndrome	Kabuki make-up syndrome	rs267607237, rs267607240, rs267607239, rs398122929, rs397514628, rs398122829, rs398122969, rs398123704, rs398123708, rs398123715, rs398123721, rs398123729, rs398123744, rs398123751, rs398123753 View all (339 more)	29255178
Klippel feil syndrome	Klippel-Feil Syndrome	rs1567750527, rs772798486, rs713993044, rs864309489, rs1569172839
Leukemia	leukemia, Leukemia, Myelocytic, Acute, Acute Undifferentiated Leukemia, Undifferentiated type acute leukemia, Acute Myeloid Leukemia (AML-M2), Acute undifferentiated leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	11731795, 12937054, 26237430, 10339604, 11579461
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-cell lymphoblastic leukemia, Precursor B-cell acute lymphoblastic leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699 View all (13 more)	24736461, 25730765
Lung carcinoma	Small cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	22941188
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Bilateral microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	20541448, 25810209, 26795593, 22077973, 24886118, 28359930, 7802037, 12453418, 20711175, 22795537, 23457195, 27759909, 22197486, 2738900, 27777327 View all (7 more)
Myelomonocytic leukemia	Acute myelomonocytic leukemia	rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641 View all (68 more)	8282816
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 View all (2 more)	28191889
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Renal insufficiency	Renal Insufficiency	rs1596536873
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	17942719
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211
Weaver syndrome	Weaver syndrome	rs193921146, rs193921147, rs193921148, rs397515548, rs587783627, rs587783626, rs587783625, rs797045568, rs1060503430, rs1131692184, rs1563181659, rs1584862620, rs1584862929, rs1584875099, rs1584844589
Wiedemann-steiner syndrome	Wiedemann-Steiner syndrome	rs398122878, rs398122879, rs398122880, rs387907275, rs398122881, rs587783678, rs587783676, rs587783679, rs587783680, rs727503776, rs797044565, rs797045051, rs797045656, rs782477344, rs863224887 View all (64 more)
Wrinkly skin syndrome	Wrinkly skin syndrome	rs80356751

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Mental depression	Unipolar Depression, Mental impairment, Major Depressive Disorder	27089181	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Trigonocephaly	Trigonocephaly		ClinVar
Metabolic Syndrome	Metabolic Syndrome		GWAS
Neuroticism	Neuroticism		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (168)

Disease Name	Relationship Type	References
Associations from Text Mining
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 View all (5 more)
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 View all (141 more)
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 View all (15 more)
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 View all (227 more)
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 View all (2 more)
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 View all (25 more)
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 View all (88 more)
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10583275, 10886213, 11167824, 12199778, 12358913, 12472570, 12637319, 15147374, 15774621, 16433901, 19120366, 19631984, 20065082, 22845170, 23025505 View all (23 more)
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

KMT2A (lysine methyltransferase 2A)