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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1788
Gene name	DNA methyltransferase 3 alpha
Gene symbol	DNMT3A
Synonyms (NCBI Gene)	DNMT3A2HESJASM.HsaIIIATBRS
Chromosome	2
Chromosome location	2p23.3
Summary	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA met

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144689354	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs147001633	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs147828672	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs149095705	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs370376334	G>A,C	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs377577594	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs587777506	CAC>-	Pathogenic	Inframe deletion, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777507	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777508	A>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777509	A>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587777510	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs745380962	C>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs745714537	A>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748082838	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs750325978	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs757823678	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs759380437	G>A,C,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs762213449	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs763189481	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs766858016	T>A,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs767226511	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs771174392	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs779626155	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs781139634	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs796065342	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs797044904	C>A,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs886041641	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs920946076	T>A,C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057520788	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1131691760	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1164367418	C>-,CC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1200243711	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1395575712	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs1553412022	A>-,AA	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553412485	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553412880	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553413823	CTG>TT	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1553414070	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553414406	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553414444	AGACTCCCCG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553423604	->C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553427894	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1558650888	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1558653090	AT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558669964	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558671136	CTGGTGGAAC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558697970	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1573291900	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1573297136	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1573313314	AGGCCCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1573338559	GCTCAGCGGCA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1573340335	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1573340475	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT003021	hsa-miR-29a-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT000716	hsa-miR-143-3p	real time qRT-PCRLuciferase reporter assayWestern blot	19638978
MIRT000716	hsa-miR-143-3p	real time qRT-PCRLuciferase reporter assayWestern blot	19638978
MIRT000716	hsa-miR-143-3p	Luciferase reporter assay	19638978
MIRT003021	hsa-miR-29a-3p	Luciferase reporter assay	17890317
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay	17890317
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assay	17890317
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay	19211935
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assay	19211935
MIRT003021	hsa-miR-29a-3p	Review	20130964
MIRT000716	hsa-miR-143-3p	Review	20026422
MIRT003021	hsa-miR-29a-3p	Review	20029422
MIRT003021	hsa-miR-29a-3p	ImmunohistochemistryMicroarrayWestern blot	20643754
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryMicroarrayWestern blot	20643754
MIRT003028	hsa-miR-29c-3p	ImmunohistochemistryMicroarrayWestern blot	20643754
MIRT005897	hsa-miR-194-5p	Luciferase reporter assayqRT-PCRWestern blot	20979124
MIRT005960	hsa-miR-369-5p	Luciferase reporter assay	21660946
MIRT003029	hsa-miR-29b-3p	qRT-PCRWestern blot	21266537
MIRT003029	hsa-miR-29b-3p	qRT-PCRWestern blot	21266537
MIRT003029	hsa-miR-29b-3p	qRT-PCRWestern blot	21266537
MIRT007188	hsa-miR-101-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	23124077
MIRT007188	hsa-miR-101-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	23124077
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assayWestern blot	23516428
MIRT016379	hsa-miR-193b-3p	Microarray	20304954
MIRT005960	hsa-miR-369-5p	Reporter assay	21660946
MIRT003028	hsa-miR-29c-3p	Reporter assay;Other	17890317
MIRT003029	hsa-miR-29b-3p	Reporter assay;Other	17890317
MIRT003021	hsa-miR-29a-3p	Reporter assay;Other	17890317
MIRT040898	hsa-miR-18a-3p	CLASH	23622248
MIRT053568	hsa-miR-200b-3p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	23995857
MIRT053571	hsa-miR-200c-3p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	23995857
MIRT003029	hsa-miR-29b-3p	qRT-PCRWestern blot	23179556
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	23100393
MIRT000716	hsa-miR-143-3p	Luciferase reporter assayqRT-PCRWestern blot	24218337
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003029	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT003028	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	25874772
MIRT725553	hsa-miR-340-5p	HITS-CLIP	19536157
MIRT725552	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT725551	hsa-miR-4528	HITS-CLIP	19536157
MIRT725550	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725549	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT725548	hsa-miR-3689d	HITS-CLIP	19536157
MIRT725547	hsa-miR-6851-5p	HITS-CLIP	19536157
MIRT658955	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT658954	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT658953	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT658952	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT658951	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT440789	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT440789	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT003028	hsa-miR-29c-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	26453978
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003029	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT053571	hsa-miR-200c-3p	qRT-PCR	27198154
MIRT053571	hsa-miR-200c-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27498672
MIRT053571	hsa-miR-200c-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27498672
MIRT053568	hsa-miR-200b-3p	Luciferase reporter assayqRT-PCRWestern blot	28345813
MIRT053568	hsa-miR-200b-3p	Luciferase reporter assayqRT-PCRWestern blot	28345813
MIRT003021	hsa-miR-29a-3p	MicroarrayqRT-PCR	26251039
MIRT733117	hsa-miR-30a-3p	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	31695416
MIRT725553	hsa-miR-340-5p	Luciferase reporter assayqRT-PCRWestern blotting	33589600
MIRT000716	hsa-miR-143-3p	Luciferase reporter assayqRT-PCRWestern blotting	33589600
MIRT734024	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blotting	33589600
MIRT725553	hsa-miR-340-5p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33589600
MIRT000716	hsa-miR-143-3p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33589600
MIRT734024	hsa-miR-145-5p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33589600
MIRT735985	hsa-miR-30c-5p	Western blottingqRT-PCRELISA	32961441
MIRT003021	hsa-miR-29a-3p	Western blottingqRT-PCRELISA	32961441
MIRT736297	hsa-miR-181a-5p	MicroarrayImmunoprecipitaion (IP)qRT-PCRELISA	32098627
MIRT733117	hsa-miR-30a-3p	Luciferase reporter assayWestern blottingqRT-PCR	31897176
MIRT003021	hsa-miR-29a-3p	Luciferase reporter assayWestern blottingqRT-PCR	33717269
MIRT658955	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT658954	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT658953	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT658952	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT658951	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT755691	hsa-miR-603	Western blottingqRT-PCRin vitro cullelar assays	35770296
MIRT942518	hsa-miR-1207-5p	CLIP-seq
MIRT942519	hsa-miR-1248	CLIP-seq
MIRT942520	hsa-miR-1271	CLIP-seq
MIRT942521	hsa-miR-143	CLIP-seq
MIRT942522	hsa-miR-1470	CLIP-seq
MIRT942523	hsa-miR-149	CLIP-seq
MIRT942524	hsa-miR-182	CLIP-seq
MIRT942525	hsa-miR-2964a-5p	CLIP-seq
MIRT942526	hsa-miR-3120-3p	CLIP-seq
MIRT942527	hsa-miR-3143	CLIP-seq
MIRT942528	hsa-miR-3179	CLIP-seq
MIRT942529	hsa-miR-3185	CLIP-seq
MIRT942530	hsa-miR-3202	CLIP-seq
MIRT942531	hsa-miR-4256	CLIP-seq
MIRT942532	hsa-miR-4270	CLIP-seq
MIRT942533	hsa-miR-4290	CLIP-seq
MIRT942534	hsa-miR-4300	CLIP-seq
MIRT942535	hsa-miR-4433	CLIP-seq
MIRT942536	hsa-miR-4441	CLIP-seq
MIRT942537	hsa-miR-4453	CLIP-seq
MIRT942538	hsa-miR-4459	CLIP-seq
MIRT942539	hsa-miR-4476	CLIP-seq
MIRT942540	hsa-miR-451b	CLIP-seq
MIRT942541	hsa-miR-4538	CLIP-seq
MIRT942542	hsa-miR-4687-5p	CLIP-seq
MIRT942543	hsa-miR-4704-3p	CLIP-seq
MIRT942544	hsa-miR-4716-3p	CLIP-seq
MIRT942545	hsa-miR-4723-5p	CLIP-seq
MIRT942546	hsa-miR-4736	CLIP-seq
MIRT942547	hsa-miR-4747-5p	CLIP-seq
MIRT942548	hsa-miR-4763-3p	CLIP-seq
MIRT942549	hsa-miR-4768-3p	CLIP-seq
MIRT942550	hsa-miR-4770	CLIP-seq
MIRT942551	hsa-miR-490-3p	CLIP-seq
MIRT942552	hsa-miR-495	CLIP-seq
MIRT942553	hsa-miR-543	CLIP-seq
MIRT942554	hsa-miR-548c-3p	CLIP-seq
MIRT942555	hsa-miR-578	CLIP-seq
MIRT942556	hsa-miR-589	CLIP-seq
MIRT942557	hsa-miR-718	CLIP-seq
MIRT942558	hsa-miR-920	CLIP-seq
MIRT942559	hsa-miR-96	CLIP-seq
MIRT942560	hsa-miR-1183	CLIP-seq
MIRT942561	hsa-miR-200b	CLIP-seq
MIRT942562	hsa-miR-200c	CLIP-seq
MIRT942563	hsa-miR-3622a-3p	CLIP-seq
MIRT942564	hsa-miR-3622a-5p	CLIP-seq
MIRT942565	hsa-miR-3622b-3p	CLIP-seq
MIRT942566	hsa-miR-429	CLIP-seq
MIRT942567	hsa-miR-4423-3p	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT1979073	hsa-miR-1207-3p	CLIP-seq
MIRT1979074	hsa-miR-1224-3p	CLIP-seq
MIRT1979075	hsa-miR-1238	CLIP-seq
MIRT1979076	hsa-miR-1244	CLIP-seq
MIRT1979077	hsa-miR-1255a	CLIP-seq
MIRT1979078	hsa-miR-1255b	CLIP-seq
MIRT1979079	hsa-miR-1260	CLIP-seq
MIRT1979080	hsa-miR-1260b	CLIP-seq
MIRT1979081	hsa-miR-1280	CLIP-seq
MIRT1979082	hsa-miR-132	CLIP-seq
MIRT1979083	hsa-miR-136	CLIP-seq
MIRT1979084	hsa-miR-144	CLIP-seq
MIRT1979085	hsa-miR-150	CLIP-seq
MIRT1979086	hsa-miR-188-3p	CLIP-seq
MIRT1979087	hsa-miR-199a-3p	CLIP-seq
MIRT1979088	hsa-miR-199b-3p	CLIP-seq
MIRT1979089	hsa-miR-2052	CLIP-seq
MIRT1979090	hsa-miR-2116	CLIP-seq
MIRT1979091	hsa-miR-212	CLIP-seq
MIRT1979092	hsa-miR-2276	CLIP-seq
MIRT1979093	hsa-miR-3124-3p	CLIP-seq
MIRT1979094	hsa-miR-3129-5p	CLIP-seq
MIRT1979095	hsa-miR-3156-3p	CLIP-seq
MIRT1979096	hsa-miR-3183	CLIP-seq
MIRT1979097	hsa-miR-3192	CLIP-seq
MIRT1979098	hsa-miR-3613-5p	CLIP-seq
MIRT1979099	hsa-miR-3652	CLIP-seq
MIRT1979100	hsa-miR-3682-5p	CLIP-seq
MIRT1979101	hsa-miR-3689a-3p	CLIP-seq
MIRT1979102	hsa-miR-3689c	CLIP-seq
MIRT1979103	hsa-miR-4301	CLIP-seq
MIRT1979104	hsa-miR-4307	CLIP-seq
MIRT1979105	hsa-miR-4430	CLIP-seq
MIRT1979106	hsa-miR-4505	CLIP-seq
MIRT1979107	hsa-miR-4639-3p	CLIP-seq
MIRT1979108	hsa-miR-4677-5p	CLIP-seq
MIRT1979109	hsa-miR-4678	CLIP-seq
MIRT1979110	hsa-miR-4694-5p	CLIP-seq
MIRT1979111	hsa-miR-4713-5p	CLIP-seq
MIRT1979112	hsa-miR-4723-3p	CLIP-seq
MIRT1979113	hsa-miR-4728-5p	CLIP-seq
MIRT1979114	hsa-miR-4738-3p	CLIP-seq
MIRT1979115	hsa-miR-4768-5p	CLIP-seq
MIRT1979116	hsa-miR-4772-3p	CLIP-seq
MIRT1979117	hsa-miR-4782-5p	CLIP-seq
MIRT1979118	hsa-miR-4795-3p	CLIP-seq
MIRT1979119	hsa-miR-532-3p	CLIP-seq
MIRT1979120	hsa-miR-564	CLIP-seq
MIRT1979121	hsa-miR-627	CLIP-seq
MIRT1979122	hsa-miR-668	CLIP-seq
MIRT1979123	hsa-miR-924	CLIP-seq
MIRT1979124	hsa-miR-942	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT2518560	hsa-miR-106a	CLIP-seq
MIRT2518561	hsa-miR-106b	CLIP-seq
MIRT1979074	hsa-miR-1224-3p	CLIP-seq
MIRT2518562	hsa-miR-1233	CLIP-seq
MIRT1979076	hsa-miR-1244	CLIP-seq
MIRT1979079	hsa-miR-1260	CLIP-seq
MIRT1979080	hsa-miR-1260b	CLIP-seq
MIRT1979081	hsa-miR-1280	CLIP-seq
MIRT1979082	hsa-miR-132	CLIP-seq
MIRT1979084	hsa-miR-144	CLIP-seq
MIRT2518563	hsa-miR-17	CLIP-seq
MIRT1979086	hsa-miR-188-3p	CLIP-seq
MIRT1979087	hsa-miR-199a-3p	CLIP-seq
MIRT1979088	hsa-miR-199b-3p	CLIP-seq
MIRT2518564	hsa-miR-20a	CLIP-seq
MIRT2518565	hsa-miR-20b	CLIP-seq
MIRT1979091	hsa-miR-212	CLIP-seq
MIRT2518566	hsa-miR-2861	CLIP-seq
MIRT2518567	hsa-miR-298	CLIP-seq
MIRT2518568	hsa-miR-29a	CLIP-seq
MIRT2518569	hsa-miR-29b	CLIP-seq
MIRT2518570	hsa-miR-29c	CLIP-seq
MIRT2518571	hsa-miR-3121-5p	CLIP-seq
MIRT1979094	hsa-miR-3129-5p	CLIP-seq
MIRT1979095	hsa-miR-3156-3p	CLIP-seq
MIRT2518572	hsa-miR-3168	CLIP-seq
MIRT2518573	hsa-miR-3190	CLIP-seq
MIRT1979097	hsa-miR-3192	CLIP-seq
MIRT2518574	hsa-miR-3609	CLIP-seq
MIRT1979098	hsa-miR-3613-5p	CLIP-seq
MIRT1979099	hsa-miR-3652	CLIP-seq
MIRT2518575	hsa-miR-3678-5p	CLIP-seq
MIRT1979101	hsa-miR-3689a-3p	CLIP-seq
MIRT1979102	hsa-miR-3689c	CLIP-seq
MIRT2518576	hsa-miR-4294	CLIP-seq
MIRT1979104	hsa-miR-4307	CLIP-seq
MIRT2518577	hsa-miR-4419a	CLIP-seq
MIRT1979105	hsa-miR-4430	CLIP-seq
MIRT2518578	hsa-miR-4432	CLIP-seq
MIRT2518579	hsa-miR-4457	CLIP-seq
MIRT1979106	hsa-miR-4505	CLIP-seq
MIRT2518580	hsa-miR-4510	CLIP-seq
MIRT942542	hsa-miR-4687-5p	CLIP-seq
MIRT2518581	hsa-miR-4727-5p	CLIP-seq
MIRT1979113	hsa-miR-4728-5p	CLIP-seq
MIRT1979114	hsa-miR-4738-3p	CLIP-seq
MIRT2518582	hsa-miR-4762-3p	CLIP-seq
MIRT2518583	hsa-miR-4769-3p	CLIP-seq
MIRT1979117	hsa-miR-4782-5p	CLIP-seq
MIRT2518584	hsa-miR-4796-3p	CLIP-seq
MIRT2518585	hsa-miR-488	CLIP-seq
MIRT2518586	hsa-miR-519d	CLIP-seq
MIRT2518587	hsa-miR-539	CLIP-seq
MIRT2518588	hsa-miR-548ah	CLIP-seq
MIRT1979120	hsa-miR-564	CLIP-seq
MIRT1979122	hsa-miR-668	CLIP-seq
MIRT2518589	hsa-miR-671-5p	CLIP-seq
MIRT2518590	hsa-miR-720	CLIP-seq
MIRT2518591	hsa-miR-767-5p	CLIP-seq
MIRT2518592	hsa-miR-93	CLIP-seq
MIRT1548008	hsa-miR-101	CLIP-seq
MIRT2518560	hsa-miR-106a	CLIP-seq
MIRT2518561	hsa-miR-106b	CLIP-seq
MIRT1979074	hsa-miR-1224-3p	CLIP-seq
MIRT2518562	hsa-miR-1233	CLIP-seq
MIRT1979076	hsa-miR-1244	CLIP-seq
MIRT1979079	hsa-miR-1260	CLIP-seq
MIRT1979080	hsa-miR-1260b	CLIP-seq
MIRT1979081	hsa-miR-1280	CLIP-seq
MIRT1979082	hsa-miR-132	CLIP-seq
MIRT1979084	hsa-miR-144	CLIP-seq
MIRT2518563	hsa-miR-17	CLIP-seq
MIRT1979086	hsa-miR-188-3p	CLIP-seq
MIRT1979087	hsa-miR-199a-3p	CLIP-seq
MIRT1979088	hsa-miR-199b-3p	CLIP-seq
MIRT2518564	hsa-miR-20a	CLIP-seq
MIRT2518565	hsa-miR-20b	CLIP-seq
MIRT1979091	hsa-miR-212	CLIP-seq
MIRT2518566	hsa-miR-2861	CLIP-seq
MIRT2518567	hsa-miR-298	CLIP-seq
MIRT2518568	hsa-miR-29a	CLIP-seq
MIRT2518569	hsa-miR-29b	CLIP-seq
MIRT2518570	hsa-miR-29c	CLIP-seq
MIRT2518571	hsa-miR-3121-5p	CLIP-seq
MIRT1979094	hsa-miR-3129-5p	CLIP-seq
MIRT1979095	hsa-miR-3156-3p	CLIP-seq
MIRT2518572	hsa-miR-3168	CLIP-seq
MIRT2518573	hsa-miR-3190	CLIP-seq
MIRT1979097	hsa-miR-3192	CLIP-seq
MIRT2518574	hsa-miR-3609	CLIP-seq
MIRT1979098	hsa-miR-3613-5p	CLIP-seq
MIRT1979099	hsa-miR-3652	CLIP-seq
MIRT2518575	hsa-miR-3678-5p	CLIP-seq
MIRT1979101	hsa-miR-3689a-3p	CLIP-seq
MIRT1979102	hsa-miR-3689c	CLIP-seq
MIRT1979104	hsa-miR-4307	CLIP-seq
MIRT1979105	hsa-miR-4430	CLIP-seq
MIRT2518578	hsa-miR-4432	CLIP-seq
MIRT2518579	hsa-miR-4457	CLIP-seq
MIRT1979106	hsa-miR-4505	CLIP-seq
MIRT942542	hsa-miR-4687-5p	CLIP-seq
MIRT2518581	hsa-miR-4727-5p	CLIP-seq
MIRT1979113	hsa-miR-4728-5p	CLIP-seq
MIRT1979114	hsa-miR-4738-3p	CLIP-seq
MIRT2518582	hsa-miR-4762-3p	CLIP-seq
MIRT2518583	hsa-miR-4769-3p	CLIP-seq
MIRT1979117	hsa-miR-4782-5p	CLIP-seq
MIRT2518584	hsa-miR-4796-3p	CLIP-seq
MIRT2518585	hsa-miR-488	CLIP-seq
MIRT2518586	hsa-miR-519d	CLIP-seq
MIRT2518587	hsa-miR-539	CLIP-seq
MIRT2518588	hsa-miR-548ah	CLIP-seq
MIRT1979120	hsa-miR-564	CLIP-seq
MIRT1979122	hsa-miR-668	CLIP-seq
MIRT2518589	hsa-miR-671-5p	CLIP-seq
MIRT2518590	hsa-miR-720	CLIP-seq
MIRT2518591	hsa-miR-767-5p	CLIP-seq
MIRT2518592	hsa-miR-93	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
MDM2	Activation	22733537
RB1	Repression	22733537
SALL3	Unknown	19139273
SP1	Activation	15362956
SP2	Activation	15362956
SP3	Unknown	15362956
WT1	Activation	23042785

Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23042785
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19786833
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000791	Component	Euchromatin	IDA	12138111
GO:0000792	Component	Heterochromatin	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19786833, 23042785
GO:0001741	Component	XY body	IEA
GO:0003677	Function	DNA binding	EXP	29414941
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	19786833
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IBA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IDA	12138111, 19786833
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16357870, 16682412, 16983096, 17713477, 19234465, 19798101, 19834512, 21976679, 24074865, 25383530, 25416956, 31515488, 32051553, 32296183, 32814053, 32968275, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12138111, 25743254
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	25383530
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12138111
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IMP	30478443
GO:0007283	Process	Spermatogenesis	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016363	Component	Nuclear matrix	IDA	12138111
GO:0016740	Function	Transferase activity	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031048	Process	Regulatory ncRNA-mediated heterochromatin formation	IGI	23435381
GO:0031507	Process	Heterochromatin formation	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032259	Process	Methylation	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042802	Function	Identical protein binding	IPI	24656771
GO:0043045	Process	Epigenetic programming of gene expression	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IDA	12138111, 19786833, 23042785
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0045322	Function	Unmethylated CpG binding	EXP	29414941
GO:0045471	Process	Response to ethanol	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19786833
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071361	Process	Cellular response to ethanol	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071514	Process	Genomic imprinting	IEA
GO:0097284	Process	Hepatocyte apoptotic process	IEA
GO:0106222	Function	LncRNA binding	IDA	23435381
GO:0106222	Function	LncRNA binding	IEA
GO:0106363	Function	Protein-cysteine methyltransferase activity	IEA
GO:0106363	Function	Protein-cysteine methyltransferase activity	ISS
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	IEA
GO:1900039	Process	Positive regulation of cellular response to hypoxia	IEA
GO:1902494	Component	Catalytic complex	IPI	25383530
GO:1903926	Process	Cellular response to bisphenol A	IEA

MIM	HGNC	e!Ensembl
602769	2978	ENSG00000119772

Q9Y6K1

Protein name

DNA (cytosine-5)-methyltransferase 3A (Dnmt3a) (EC 2.1.1.37) (Cysteine methyltransferase DNMT3A) (EC 2.1.1.-) (DNA methyltransferase HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)

Protein function

Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (

PDB

2QRV , 3A1A , 3A1B , 3LLR , 3SVM , 4QBQ , 4QBR , 4QBS , 4U7P , 4U7T , 5YX2 , 6BRR , 6F57 , 6PA7 , 6W89 , 6W8B , 6W8D , 6W8J , 8BA5 , 8QZM , 8TDR , 8TE1 , 8TE3 , 8TE4 , 8U5H , 8UW1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00855	PWWP	290 → 377	PWWP domain	Domain
PF17980	ADD_DNMT3	475 → 530	Cysteine rich ADD domain in DNMT3	Domain
PF00145	DNA_methylase	634 → 776	C-5 cytosine-specific DNA methylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung. {ECO:0000269|PubMed:10325416}.

Sequence

MPAMPSSGPGDTSSSAAEREEDRKDGEEQEEPRGKEERQEPSTTARKVGRPGRKRKHPPV
ESGDTPKDPAVISKSPSMAQDSGASELLPNGDLEKRSEPQPEEGSPAGGQKGGAPAEGEG
AAETLPEASRAVENGCCTPKEGRGAPAEAGKEQKETNIESMKMEGSRGRLRGGLGWESSL
RQRPMPRLTFQAGDPYYISKRKRDEWLARWKREAEKKAKVIAGMNAVEENQGPGESQKVE
EASPPAVQQPTDPASPTVATTPEPVGSDAGDKNATKAGDDEPEYEDGRGFGIGELVWGKL
RGFSWWPGRIVSWWMTGRSRAAEGTRWVMWFGDGKFSVVCVEKLMPLSSFCSAFHQATYN
KQPMYRKAIYEVLQVASSRAGKLFPVCHDSDESDTAKAVEVQNKPMIEWALGGFQPSGPK
GLEPPEEEKNPYKEVYTDMWVEPEAAAYAPPPPAKKPRKSTAEKPKVKEIIDERTRERLV
YEVRQKCRNIEDICISCGSLNVTLEHPLFVGGMCQNCKNCFLECAYQYDDDGYQSYCTIC
CGGREVLMCGNNNCCRCFCVECVDLLVGPGAAQAAIKEDPWNCYMCGHKGTYGLLRRRED
WPSRLQMFFANNHDQEFDPPKVYPPVPAEKRKPIRVLSLFDGIATGLLVLKDLGIQVDRY
IASEVCEDSITVGMVRHQGKIMYVGDVRSVTQKHIQEWGPFDLVIGGSPCNDLSIVNPAR
KGLYEGTGRLFFEFYRLLHDARPKEGDDRPFFWLFENVVAMGVSDKRDISRFLESNPVMI
DAKEVSAAHRARYFWGNLPGMNRPLASTVNDKLELQECLEHGRIAKFSKVRTITTRSNSI
KQGKDQHFPVFMNEKEDILWCTEMERVFGFPVHYTDVSNMSRLARQRLLGRSWSVPVIRH
LFAPLKEYFACV

Sequence length

912

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism Metabolic pathways Efferocytosis MicroRNAs in cancer		PRC2 methylates histones and DNA RMTs methylate histone arginines

723

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs147001633	RCV001814155
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1674056899, rs1313738991, rs147001633, rs377577594, rs779626155, rs757823678, rs771174392, rs759380437, rs1573338559	RCV005025733 RCV002249029 RCV000430182 RCV000429128 RCV003338604 RCV004796213 RCV000760250 RCV000760251 RCV001003799
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs2149307214, rs1674056899, rs759747476, rs149095705	RCV001871979 RCV002226414 RCV003127441 RCV003233631
Clonal Cytopenia of Undetermined Significance	Likely pathogenic; Pathogenic	rs147001633	RCV003153242
DNMT3A-related disorder	Likely pathogenic; Pathogenic	rs2465481804, rs767692203, rs147001633, rs377577594, rs755744291, rs1673065619	RCV004548607 RCV003410447 RCV004545768 RCV004745372 RCV004746302 RCV004746305
Early T cell progenitor acute lymphoblastic leukemia	Pathogenic	rs796065342	RCV000190418
EBV-positive nodal T- and NK-cell lymphoma	Pathogenic; Likely pathogenic	rs2465573611, rs1195416744, rs773260349, rs149095705, rs147001633, rs377577594, rs778270132	RCV004560236 RCV004560237 RCV004560239 RCV004559047 RCV004559051 RCV004559052 RCV004557460
Glioblastoma	Likely pathogenic	rs1558650888	RCV000785978
Heyn-Sproul-Jackson syndrome	Likely pathogenic; Pathogenic	rs1674056899, rs1674986110, rs2465557288, rs2149307985, rs377577594, rs757823678, rs1573340475, rs1573340335	RCV005025733 RCV003228061 RCV003330113 RCV003991135 RCV005869413 RCV004796213 RCV000986095 RCV000986096
Hypoparathyroidism	Likely pathogenic	rs962805778	RCV005626631
Intellectual disability	Pathogenic; Likely pathogenic	rs1352259738, rs376830288, rs147001633, rs1675087282, rs1558650788	RCV001328488 RCV004017987 RCV004017608 RCV001255352 RCV001260611
Melanoma	Pathogenic	rs754613602	RCV003222461
Meningioma	Likely pathogenic; Pathogenic	rs1553414070	RCV006254076
Multiple myeloma	Likely pathogenic	rs745380962	RCV000984105
Neonatal hypotonia	Likely pathogenic; Pathogenic	rs2149307214	RCV001376132
Neoplasm	Likely pathogenic; Pathogenic	rs147001633, rs377577594	RCV004668919 RCV005230283
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs960019580, rs1465829182, rs377577594	RCV001780007 RCV002277693 RCV001374980
Rare genetic intellectual disability	Likely pathogenic	rs1674465974	RCV001256990
See cases	Likely pathogenic; Pathogenic	rs568207978, rs779323387, rs2149300813, rs962805778	RCV002252677 RCV001420199 RCV001420316 RCV002287647
Tatton-Brown-Rahman overgrowth syndrome	Pathogenic; Likely pathogenic	rs1352259738, rs2149307214, rs568207978, rs1558665485, rs754506713, rs2149288538, rs762213449, rs944608317, rs772041639, rs759936287, rs766110518, rs903011938, rs574130689, rs2149289125, rs866917013 View all (62 more)	RCV003584898 RCV001871979 RCV001382894 RCV001384839 RCV001527373 RCV001563649 RCV005094823 RCV001706757 RCV001706950 RCV001775240 RCV003832391 RCV001801261 RCV003772257 RCV001839358 RCV002046908 RCV000128558 RCV000128559 RCV000128560 RCV000128561 RCV000128562 RCV002030720 RCV002226414 RCV002273282 RCV002289228 RCV002463468 RCV002651442 RCV002898735 RCV002876950 RCV002971830 RCV003031398 RCV003140539 RCV003153226 RCV003227565 RCV003227566 RCV000256441 RCV003320002 RCV003320345 RCV003330172 RCV003585556 RCV003584060 RCV003584278 RCV003584227 RCV003584327 RCV003746731 RCV003746821 RCV003747155 RCV003746055 RCV003747530 RCV003747559 RCV003985952 RCV003990738 RCV004515751 RCV004555214 RCV004595164 RCV004595165 RCV003233631 RCV000524775 RCV000590987 RCV001237885 RCV000505187 RCV005865015 RCV000549667 RCV000652288 RCV000677140 RCV000677427 RCV000677682 RCV000690485 RCV000700133 RCV000696106 RCV000760250 RCV000760251 RCV000778096 RCV000803514 RCV000812887 RCV000798433 RCV001227614 RCV001245491 RCV001258351 RCV003222290

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	rs781254365	RCV005626291
Hepatocellular carcinoma	-	rs1166765403	RCV005931994
Hereditary pheochromocytoma and paraganglioma	Conflicting classifications of pathogenicity	rs760854242	RCV005909262
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	rs10084238, rs147828672	RCV005925250 RCV003448984
Myeloproliferative disorder	Conflicting classifications of pathogenicity	rs147828672	RCV001003798
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	rs144689354	RCV006253939

Show/Hide Text Mining Associations (266)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute erythroleukemia	Associate	35967966
Adenomatous Polyposis Coli	Associate	21347319
Adrenal Insufficiency	Associate	25126948
Adrenocortical Carcinoma	Associate	25078331, 37528470
Aging Premature	Associate	34210413
Alzheimer Disease	Associate	26371346, 36646969
Anemia	Associate	32243522, 37160316
Anemia Aplastic	Associate	25139356, 26132940, 29720492, 34587721, 37087521
Aortic Aneurysm Abdominal	Associate	31001930
Aortic Aneurysm Thoracic	Associate	36291095
Aortic Root Aneurysm	Associate	34644003
Aortic Valve Stenosis	Associate	31504400, 32639511, 36680616
Arthritis	Associate	28349196
Arthritis Rheumatoid	Associate	25042153, 30366082, 34125889, 40305610
Asthma	Associate	30366082
Ataxia Telangiectasia	Associate	23687089, 27203213, 30252567, 36796016
Atherosclerosis	Associate	33779075, 36835370
Atrial Fibrillation	Associate	35724849
Atrophy	Associate	31685998
Atypical Squamous Cells of the Cervix	Associate	34255818, 35352484, 37160316
Autism Spectrum Disorder	Associate	30786140, 36758877
Autistic Disorder	Associate	25290267
Behcet Syndrome	Associate	36864496
beta Thalassemia	Associate	28669403
Biliary Atresia	Associate	29748604, 30906331
Bjornstad syndrome	Associate	26375248, 37558665
Bloom Syndrome	Stimulate	22520950
Bone Marrow Diseases	Associate	34529785
Bone Marrow Failure Disorders	Associate	33961341
Brain Ischemia	Associate	38170948
Brain Neoplasms	Associate	31527824, 31685998
Breast Neoplasms	Associate	19358274, 20625516, 22419067, 22520950, 24218337, 26070560, 28252641, 28393842, 31660998, 36361596, 36774339, 39597087, 39913285
Carcinogenesis	Associate	17548962, 20128888, 20467490, 21352603, 22722925, 24289567, 24423239, 24622842, 24667323, 26191165, 26254611, 26350239, 28423585, 31640986, 31843451, 35063646 View all (1 more)
Carcinogenesis	Stimulate	26862732
Carcinoma Adenoid Cystic	Associate	31101826
Carcinoma Endometrioid	Associate	30614867
Carcinoma Hepatocellular	Associate	20467490, 26254611, 31843451, 33247696, 34148029, 34319031, 35077478, 36291095, 38565301
Carcinoma in Situ	Associate	24292451
Carcinoma Non Small Cell Lung	Associate	25222473, 28423585, 32744692, 33629637, 34957997, 35132181
Carcinoma Pancreatic Ductal	Associate	24423239, 29115606
Carcinoma Renal Cell	Associate	25550796, 28160561, 36536414
Carcinoma Squamous Cell	Associate	24394434
Cardiomyopathies	Associate	34644003
Cardiomyopathy Dilated	Associate	34644003, 35979940
Cardiomyopathy Dilated	Inhibit	34713710
Cardiomyopathy Hypertrophic	Associate	33582159
Cardiovascular Diseases	Associate	32639511, 35339897, 35931086
CATSHL syndrome	Associate	31685998
Cerebral Infarction	Associate	25426837, 38170948
Cerebral Small Vessel Diseases	Associate	38170948
Cerebrovascular Disorders	Associate	38170948
Cholangiocarcinoma	Associate	37486965, 37932819
Chromosome 8 trisomy	Associate	35549661
Cirrhosis Familial	Associate	37558665
Cleft Palate	Associate	34382870
Colitis Ulcerative	Associate	26862732, 31812712, 38238335
Colorectal Neoplasms	Associate	19638978, 24324066, 29278853, 29719581, 32711442, 34024817, 34623601, 35212022
Colorectal Neoplasms	Stimulate	35063646
Conotruncal cardiac defects	Associate	31851787
Conversion Disorder	Associate	33582159
Coronary Artery Disease	Associate	36097025, 39460851
Coronary Disease	Associate	34125889
COVID 19	Associate	32639511, 36840831
Crohn Disease	Associate	34561436, 38238335
Cyclic neutropenia	Associate	27881874, 29866652, 30861111, 31707836, 32442302, 32639511, 33242405, 34050697, 34793200, 34963005, 36097025, 36281508, 36727396, 37381752, 38170948, 39456832, 40305610 View all (2 more)
Cytokine Release Syndrome	Associate	32639511
Death	Associate	30566180, 31018948, 33832602, 33877299, 34239136, 35339897, 35485701
Diabetes Mellitus	Associate	31811564
Diabetes Mellitus Type 2	Inhibit	23879380
Diabetes Mellitus Type 2	Associate	35940555
Diabetic Nephropathies	Associate	27364355, 30496316
Down Syndrome	Associate	27245352
Drug Related Side Effects and Adverse Reactions	Associate	35533245
Ectodermal Dysplasia	Stimulate	37887281
Embolic Stroke	Associate	38170948
Encephalitis Tick Borne	Associate	32231256
Endometrial Neoplasms	Associate	37175518, 37847338
Endometrial Stromal Tumors	Associate	36731460
Endometriosis	Associate	17081533, 22233680
Epilepsy Temporal Lobe	Associate	31426844
Epstein Barr Virus Infections	Stimulate	21752916
Essential Tremor	Associate	27447873
Fetal Growth Retardation	Associate	33389447
Fibrosis	Associate	30906331, 37952204, 38242884
Focal Epithelial Hyperplasia of the Oral Mucosa	Associate	21352603
Gastrointestinal Neoplasms	Associate	31151028
GATA2 Deficiency	Associate	34529785
Genetic Predisposition to Disease	Associate	23632886
Glioblastoma	Associate	30002361, 31371348
Glucose Metabolism Disorders	Associate	33582159
Glucosephosphate Dehydrogenase Deficiency	Associate	20128888
Glycogen Storage Disease Type II	Associate	30366082
Graft vs Host Disease	Associate	33961341
Graft vs Host Disease	Stimulate	34793200
Granulomatous Disease Chronic	Associate	34596815
Growth Disorders	Associate	24614070, 28560437, 29802153, 31160375
Hashimoto Disease	Associate	27237591
Hearing Loss	Associate	30111769
Hearing Loss Bilateral	Associate	34721301
Hearing Loss Noise Induced	Associate	30111769
Heart Failure	Associate	30566180, 32639511, 33779075, 33832602, 35339897, 38242884
Helicobacter Infections	Associate	24289567
Hematologic Diseases	Associate	27717004, 34053991, 34125889
Hematologic Neoplasms	Associate	24614070, 24914952, 29324392, 30475948, 34050697, 34239136, 34570179, 37160317
Hepatic Veno Occlusive Disease	Associate	30861111
Hepatitis C	Stimulate	26850594
Hereditary Breast and Ovarian Cancer Syndrome	Associate	39377506
HIV Infections	Associate	27854146
Hodgkin Disease	Associate	21752916, 34164626
Hypospadias	Associate	21937623
Hypoxia	Inhibit	20543577
Hypoxia	Associate	27012941, 29746587, 30385847
Infections	Associate	32639511, 33066747
Infertility Male	Associate	28894282
Inflammation	Associate	29295709, 31504400, 31812712, 32639511, 35339897, 35533245, 39196061, 39476105, 40305610
Inflammation	Stimulate	34793200
Inflammatory Bowel Diseases	Associate	34561436, 38238335
Insulin Resistance	Stimulate	31766080
Intellectual Disability	Associate	24614070, 34721301, 39734048
Ischemia	Inhibit	20543577
Kyphoscoliosis 1	Associate	39734048
Leiomyoma	Associate	26453978
LEOPARD Syndrome	Associate	31624251
Lesch Nyhan Syndrome	Associate	36645547
Leukemia	Associate	11222358, 21504050, 21880636, 22395470, 24403256, 25326804, 25732814, 25994761, 26676635, 27733013, 27881874, 28215704, 29324392, 29619119, 31018948 View all (9 more)
Leukemia Biphenotypic Acute	Associate	27208809, 30530780, 36219502, 36934225
Leukemia Large Granular Lymphocytic	Associate	35015834, 37142644
Leukemia Lymphocytic Chronic B Cell	Associate	28480959, 36567979
Leukemia Lymphoid	Associate	36450978
Leukemia Lymphoma Adult T Cell	Associate	33562071
Leukemia Megakaryoblastic Acute	Associate	22122069
Leukemia Monocytic Acute	Associate	22066015, 29843647
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	11222358, 31073075
Leukemia Myeloid	Associate	22162831, 30245403
Leukemia Myeloid Acute	Associate	11222358, 19211935, 21067377, 21415852, 21504050, 21880636, 21881046, 21979949, 21993668, 22066015, 22077061, 22291079, 22308499, 22490330, 22507776 View all (150 more)
Leukemia Myeloid Acute	Stimulate	32597790
Leukemia Myeloid Chronic Phase	Associate	40295826
Leukemia Myelomonocytic Chronic	Associate	21828135, 27733013, 28102729, 35236051, 35443559
Leukemia Plasma Cell	Associate	35770320
Leukemia Promyelocytic Acute	Associate	28767575
Leukemia T Cell	Associate	34793200
Leukocytosis	Associate	34100902
Leukoencephalopathies	Associate	36807865
Liver Cirrhosis	Associate	37268177
Lung Neoplasms	Associate	17890317, 37121213
Lupus Erythematosus Systemic	Associate	18194272, 21976679, 27904655, 29074164, 29177435, 35176141, 36536372
Lupus Erythematosus Systemic	Stimulate	23054340
Lupus Erythematosus Systemic	Inhibit	28349196
Lymphatic Metastasis	Associate	25550796
Lymphohistiocytosis Hemophagocytic	Associate	29843647, 33961341
Lymphoma	Associate	25326804, 28901428, 31436356, 34751409, 35533245, 35593442, 38429084
Lymphoma B Cell	Associate	39377506
Lymphoma B Cell Marginal Zone	Associate	35064935
Lymphoma Large B Cell Diffuse	Associate	20398054, 30683910, 32469082
Lymphoma Non Hodgkin	Associate	33400376
Lymphoma T Cell	Associate	28148900, 28157189, 29052597, 31859368, 32442302, 32945366, 33739791, 35064935, 36567979
Lymphoma T Cell Peripheral	Associate	26268241, 30829413, 31859368, 35301414, 35895386
Marfan Syndrome	Associate	34644003
Mastocytosis	Associate	22905207
Mastocytosis Systemic	Associate	22905207, 31151985
Medulloblastoma	Associate	27543768
Melanoma	Associate	21081840, 28186096, 37160317, 39456832
Meningeal Neoplasms	Associate	32711494
Mental Disorders	Associate	31685998
Mesothelioma Malignant	Associate	19233506, 34008015
Metabolic Diseases	Associate	33582159
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	25964253
Microsatellite Instability	Associate	34024817
Mitral Valve Prolapse	Associate	34644003
Mucocutaneous Lymph Node Syndrome	Associate	31171909
Multi centric Castleman's Disease	Associate	29496669
Multiple Endocrine Neoplasia	Associate	39734048
Multiple Myeloma	Associate	23408834, 35173353
Multiple Myeloma	Stimulate	27559096
Multiple Sclerosis	Associate	34561436
Muscular Dystrophy Duchenne	Associate	33004909
Myasthenia Gravis	Associate	27999265
Myelodysplastic Syndromes	Associate	21415852, 21880636, 21979949, 22066015, 22308499, 23831921, 24115220, 24220272, 24723457, 24914952, 25092778, 27419369, 27527853, 28255022, 28875545 View all (19 more)
Myocardial Infarction	Associate	30861111
Myotonic Dystrophy	Stimulate	31811564
Neoplasm Invasiveness	Associate	30002361, 37121213
Neoplasm Metastasis	Associate	31624251, 32711494, 34148029
Neoplasm Residual	Associate	22077061, 34516636
Neoplasms	Associate	10773079, 12015329, 19139273, 20128888, 20847044, 20951977, 21521786, 22687754, 22768205, 23042785, 24142997, 24622842, 24667323, 24895580, 24914952 View all (63 more)
Neoplasms	Inhibit	11222358, 22162831, 26551667, 33066747, 34198843
Neoplasms	Stimulate	28978469, 35770296
Neoplasms Second Primary	Associate	35803921
Neoplasms Squamous Cell	Associate	26379152
Neural Tube Defects	Associate	28255022
Neuroblastoma	Associate	36361596
Neurotoxicity Syndromes	Associate	35533245
Neutropenia severe chronic	Associate	34166485
Nevus	Associate	28186096
Niemann Pick Disease Type C	Associate	28074931
Non Muscle Invasive Bladder Neoplasms	Associate	25284287
Obesity	Associate	33004909, 34139469, 39743445
Oculocutaneous albinism type 2	Associate	36399874
Osteoarthritis	Associate	28262826, 28345813, 35288246
Osteoarthritis	Inhibit	30385847
Osteoporosis	Inhibit	30385847
Osteoporosis	Associate	31430471, 33004909
Osteosarcoma	Associate	35909477
Ovarian Neoplasms	Associate	18381459, 22768205, 23666104, 28179359, 28743276, 28978469, 29558748, 33273524, 35770296
Pancreatic Neoplasms	Associate	22110720, 34471186
Paraganglioma	Associate	29740169
Periodontitis	Associate	39476105
Peripheral Arterial Disease	Inhibit	36680616
Peripheral Nervous System Diseases	Associate	35504600
Peripheral Vascular Diseases	Associate	36835370
Personality Disorders	Stimulate	30002361
Personality Disorders	Associate	31685998
Peutz Jeghers Syndrome	Associate	32799895
Pheochromocytoma	Associate	29740169
Pituitary Neoplasms	Associate	30002361
Polycythemia	Associate	38244120
Polycythemia Vera	Associate	27447873, 32066200
Precancerous Conditions	Associate	20951977, 29518238
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30635552, 31869410
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22162831, 23603912, 23687089, 24887327, 25371149, 27470916, 27476855, 30655366, 30942411, 30968396, 32856987, 33436855, 34101344, 34617422, 36163632, 36289338 View all (1 more)
Primary Myelofibrosis	Associate	27447873, 30625392, 40287867
Progressive Transformation of Germinal Centers	Associate	21752916
Prostatic Neoplasms	Associate	21521786, 21990314, 34728570, 36095024, 37900138
Psychotic Disorders	Associate	31685998
Pulmonary Arterial Hypertension	Associate	35581740
Pulmonary Disease Chronic Obstructive	Associate	35805204
Red Cell Aplasia Pure	Associate	33500526, 35593442
Retinal Dysplasia	Associate	29619119
Rhabdomyosarcoma	Associate	34128847, 34831178
Rhabdomyosarcoma Embryonal	Associate	34831178
Ring Chromosomes	Associate	29619119
Sarcoma Endometrial Stromal	Associate	36731460
Sarcoma Myeloid	Associate	34465355
Schizophrenia	Associate	31685998
Seckel syndrome 1	Associate	31685998
Seizures Febrile	Associate	31426844
Sezary Syndrome	Associate	26551667, 27121473
Silver Russell Syndrome	Associate	19675668
Simpson Golabi Behmel syndrome	Associate	24614070, 31685998, 39734048
Skin Diseases	Associate	34671345
Sotos Syndrome	Associate	31160375
Squamous Cell Carcinoma of Head and Neck	Associate	20951977
ST Elevation Myocardial Infarction	Associate	35339897
Staphylococcal Infections	Associate	31527248
Stomach Neoplasms	Associate	20128888, 22942708, 24667323, 25009393, 25874772, 26350239, 26823816, 28718369, 28829505, 30376837, 37477089
Stroke	Associate	34507355
Tertiary Lymphoid Structures	Associate	37160317
Testicular Germ Cell Tumor	Associate	17548962, 23959088
Testicular Neoplasms	Associate	23959088
Thrombocytopenia	Associate	37160316
Thrombophilia	Associate	35733370
Thrombosis	Associate	30861111
Thymoma	Associate	27999265, 37703595
Thyroid Cancer Papillary	Associate	36098040
Thyroid Neoplasms	Associate	30252567
Thyroiditis Autoimmune	Associate	27237591
Triple Negative Breast Neoplasms	Associate	30324719, 37885030, 40427627
Trisomy	Associate	31018948
Tuberculosis Multidrug Resistant	Associate	21106767
Turcot syndrome	Associate	37847338
Urethral Neoplasms	Associate	25126948
Uterine Cervical Neoplasms	Associate	21674242, 26191165, 31661141
Uterine Cervical Neoplasms	Inhibit	28459195
Ventricular Remodeling	Associate	11713352
Weaver syndrome	Associate	31685998
Weight Loss	Associate	39743445
Wilms Tumor	Associate	23042785, 34053991

DNMT3A (DNA methyltransferase 3 alpha)