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	1789
Gene name	DNA methyltransferase 3 beta
Gene symbol	DNMT3B
Synonyms (NCBI Gene)	FSHD4ICFICF1M.HsaIIIB
Chromosome	20
Chromosome location	20q11.21
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

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2424926	C>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs121908939	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121908940	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121908941	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908942	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908943	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908944	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908945	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs121908946	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121908947	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs145632647	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs150736372	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201579632	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs377138079	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs547940069	G>A	Pathogenic	Intron variant, genic downstream transcript variant
rs747182299	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057518176	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1368779496	AG>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1438362757	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

207

Show/Hide all (207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT003025	hsa-miR-29c-3p	Luciferase reporter assayWestern blotqRT-PCR	17890317
MIRT000955	hsa-miR-148a-3p	GFP reporter assayWestern blotqRT-PCR	18367714
MIRT000955	hsa-miR-148a-3p	GFP reporter assayWestern blotqRT-PCR	18367714
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assay	17890317
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	18996365
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	17890317
MIRT003025	hsa-miR-29c-3p	Luciferase reporter assay	17890317
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	19211935
MIRT003027	hsa-miR-29a-3p	Review	20130964
MIRT003027	hsa-miR-29a-3p	Review	20029422
MIRT000955	hsa-miR-148a-3p	MicroarrayqRT-PCR	19435428
MIRT005961	hsa-miR-369-5p	Luciferase reporter assay	21660946
MIRT003026	hsa-miR-29b-3p	qRT-PCRWestern blot	21266537
MIRT003026	hsa-miR-29b-3p	qRT-PCRWestern blot	21266537
MIRT003026	hsa-miR-29b-3p	qRT-PCRWestern blot	21266537
MIRT018547	hsa-miR-335-5p	Microarray	18185580
MIRT019897	hsa-miR-375	Microarray	20215506
MIRT005961	hsa-miR-369-5p	Reporter assay;Western blot;qRT-PCR	21660946
MIRT003025	hsa-miR-29c-3p	Reporter assay;Other	17890317
MIRT003026	hsa-miR-29b-3p	Reporter assay;Other	17890317
MIRT003027	hsa-miR-29a-3p	Reporter assay;Other	17890317
MIRT048777	hsa-miR-93-5p	CLASH	23622248
MIRT053569	hsa-miR-200b-3p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	23995857
MIRT053572	hsa-miR-200c-3p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	23995857
MIRT003026	hsa-miR-29b-3p	qRT-PCRWestern blot	23179556
MIRT003026	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	23100393
MIRT003027	hsa-miR-29a-3p	ChIP-seqqRT-PCRWestern blot	23789939
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24343426
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24343426
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24343426
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24343426
MIRT003026	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003026	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003026	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003026	hsa-miR-29b-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27832631
MIRT003027	hsa-miR-29a-3p	MicroarrayqRT-PCR	26251039
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	26404322
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	26404322
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	25784815
MIRT735331	hsa-miR-302a-3p	qRT-PCR	32342936
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assayWestern blottingqRT-PCR	33717269
MIRT755580	hsa-miR-548ag	Western blotting	36769291
MIRT756036	hsa-miR-613	Luciferase reporter assayWestern blottingqRT-PCR	36061358
MIRT035564	hsa-miR-148b-3p	Luciferase reporter assayqRT-PCR	36959680
MIRT942568	hsa-miR-1	CLIP-seq
MIRT942569	hsa-miR-1204	CLIP-seq
MIRT942570	hsa-miR-124	CLIP-seq
MIRT942571	hsa-miR-1253	CLIP-seq
MIRT942572	hsa-miR-1255a	CLIP-seq
MIRT942573	hsa-miR-1255b	CLIP-seq
MIRT942574	hsa-miR-1258	CLIP-seq
MIRT942575	hsa-miR-1270	CLIP-seq
MIRT942576	hsa-miR-1273g	CLIP-seq
MIRT942577	hsa-miR-1283	CLIP-seq
MIRT942578	hsa-miR-129-3p	CLIP-seq
MIRT942579	hsa-miR-185	CLIP-seq
MIRT942580	hsa-miR-1973	CLIP-seq
MIRT942581	hsa-miR-206	CLIP-seq
MIRT942582	hsa-miR-2113	CLIP-seq
MIRT942583	hsa-miR-2355-5p	CLIP-seq
MIRT942584	hsa-miR-29a	CLIP-seq
MIRT942585	hsa-miR-29b	CLIP-seq
MIRT942586	hsa-miR-29c	CLIP-seq
MIRT942587	hsa-miR-3148	CLIP-seq
MIRT942588	hsa-miR-3152-3p	CLIP-seq
MIRT942589	hsa-miR-3166	CLIP-seq
MIRT942590	hsa-miR-3183	CLIP-seq
MIRT942591	hsa-miR-3190	CLIP-seq
MIRT942592	hsa-miR-3529	CLIP-seq
MIRT942593	hsa-miR-3613-3p	CLIP-seq
MIRT942594	hsa-miR-3653	CLIP-seq
MIRT942595	hsa-miR-3662	CLIP-seq
MIRT942596	hsa-miR-3663-3p	CLIP-seq
MIRT942597	hsa-miR-3679-3p	CLIP-seq
MIRT942598	hsa-miR-3688-3p	CLIP-seq
MIRT942599	hsa-miR-377	CLIP-seq
MIRT942600	hsa-miR-379	CLIP-seq
MIRT942601	hsa-miR-3920	CLIP-seq
MIRT942602	hsa-miR-3921	CLIP-seq
MIRT942603	hsa-miR-3929	CLIP-seq
MIRT942604	hsa-miR-3977	CLIP-seq
MIRT942605	hsa-miR-4289	CLIP-seq
MIRT942606	hsa-miR-4291	CLIP-seq
MIRT942607	hsa-miR-4306	CLIP-seq
MIRT942608	hsa-miR-4310	CLIP-seq
MIRT942609	hsa-miR-4318	CLIP-seq
MIRT942610	hsa-miR-4326	CLIP-seq
MIRT942611	hsa-miR-4328	CLIP-seq
MIRT942612	hsa-miR-4419b	CLIP-seq
MIRT942613	hsa-miR-4423-3p	CLIP-seq
MIRT942614	hsa-miR-4434	CLIP-seq
MIRT942615	hsa-miR-4440	CLIP-seq
MIRT942616	hsa-miR-4446-5p	CLIP-seq
MIRT942617	hsa-miR-4448	CLIP-seq
MIRT942618	hsa-miR-4451	CLIP-seq
MIRT942619	hsa-miR-4478	CLIP-seq
MIRT942620	hsa-miR-4481	CLIP-seq
MIRT942621	hsa-miR-4516	CLIP-seq
MIRT942622	hsa-miR-4531	CLIP-seq
MIRT942623	hsa-miR-4536	CLIP-seq
MIRT942624	hsa-miR-455-5p	CLIP-seq
MIRT942625	hsa-miR-4644	CLIP-seq
MIRT942626	hsa-miR-4650-3p	CLIP-seq
MIRT942627	hsa-miR-4653-5p	CLIP-seq
MIRT942628	hsa-miR-4662a-5p	CLIP-seq
MIRT942629	hsa-miR-4682	CLIP-seq
MIRT942630	hsa-miR-4723-3p	CLIP-seq
MIRT942631	hsa-miR-4745-5p	CLIP-seq
MIRT942632	hsa-miR-4752	CLIP-seq
MIRT942633	hsa-miR-4758-5p	CLIP-seq
MIRT942634	hsa-miR-4768-5p	CLIP-seq
MIRT942635	hsa-miR-4771	CLIP-seq
MIRT942636	hsa-miR-483-3p	CLIP-seq
MIRT942637	hsa-miR-490-3p	CLIP-seq
MIRT942638	hsa-miR-494	CLIP-seq
MIRT942639	hsa-miR-496	CLIP-seq
MIRT942640	hsa-miR-502-5p	CLIP-seq
MIRT942641	hsa-miR-505	CLIP-seq
MIRT942642	hsa-miR-506	CLIP-seq
MIRT942643	hsa-miR-508-5p	CLIP-seq
MIRT942644	hsa-miR-548ac	CLIP-seq
MIRT942645	hsa-miR-548ad	CLIP-seq
MIRT942646	hsa-miR-548ae	CLIP-seq
MIRT942647	hsa-miR-548aj	CLIP-seq
MIRT942648	hsa-miR-548am	CLIP-seq
MIRT942649	hsa-miR-548d-3p	CLIP-seq
MIRT942650	hsa-miR-548x	CLIP-seq
MIRT942651	hsa-miR-548z	CLIP-seq
MIRT756036	hsa-miR-613	CLIP-seq
MIRT942652	hsa-miR-620	CLIP-seq
MIRT942653	hsa-miR-643	CLIP-seq
MIRT942654	hsa-miR-649	CLIP-seq
MIRT942655	hsa-miR-766	CLIP-seq
MIRT942656	hsa-miR-200b	CLIP-seq
MIRT942657	hsa-miR-200c	CLIP-seq
MIRT942658	hsa-miR-3157-5p	CLIP-seq
MIRT942602	hsa-miR-3921	CLIP-seq
MIRT942659	hsa-miR-429	CLIP-seq
MIRT942627	hsa-miR-4653-5p	CLIP-seq
MIRT942629	hsa-miR-4682	CLIP-seq
MIRT942660	hsa-miR-4800-3p	CLIP-seq
MIRT942661	hsa-miR-4803	CLIP-seq
MIRT755580	hsa-miR-548ag	CLIP-seq
MIRT942662	hsa-miR-548ai	CLIP-seq
MIRT942663	hsa-miR-618	CLIP-seq
MIRT942664	hsa-miR-626	CLIP-seq
MIRT942665	hsa-miR-645	CLIP-seq
MIRT942666	hsa-miR-668	CLIP-seq
MIRT942576	hsa-miR-1273g	CLIP-seq
MIRT942579	hsa-miR-185	CLIP-seq
MIRT1979125	hsa-miR-1976	CLIP-seq
MIRT1979126	hsa-miR-3690	CLIP-seq
MIRT942599	hsa-miR-377	CLIP-seq
MIRT1979127	hsa-miR-4254	CLIP-seq
MIRT942607	hsa-miR-4306	CLIP-seq
MIRT942609	hsa-miR-4318	CLIP-seq
MIRT1979128	hsa-miR-4506	CLIP-seq
MIRT942625	hsa-miR-4644	CLIP-seq
MIRT1979129	hsa-miR-629	CLIP-seq
MIRT942569	hsa-miR-1204	CLIP-seq
MIRT942570	hsa-miR-124	CLIP-seq
MIRT942577	hsa-miR-1283	CLIP-seq
MIRT2214233	hsa-miR-145	CLIP-seq
MIRT2214234	hsa-miR-2278	CLIP-seq
MIRT942583	hsa-miR-2355-5p	CLIP-seq
MIRT2214235	hsa-miR-25	CLIP-seq
MIRT942584	hsa-miR-29a	CLIP-seq
MIRT942585	hsa-miR-29b	CLIP-seq
MIRT942586	hsa-miR-29c	CLIP-seq
MIRT942590	hsa-miR-3183	CLIP-seq
MIRT2214236	hsa-miR-32	CLIP-seq
MIRT942593	hsa-miR-3613-3p	CLIP-seq
MIRT2214237	hsa-miR-363	CLIP-seq
MIRT942594	hsa-miR-3653	CLIP-seq
MIRT2214238	hsa-miR-367	CLIP-seq
MIRT942597	hsa-miR-3679-3p	CLIP-seq
MIRT2214239	hsa-miR-3925-3p	CLIP-seq
MIRT942611	hsa-miR-4328	CLIP-seq
MIRT942615	hsa-miR-4440	CLIP-seq
MIRT942616	hsa-miR-4446-5p	CLIP-seq
MIRT2214240	hsa-miR-4704-3p	CLIP-seq
MIRT942630	hsa-miR-4723-3p	CLIP-seq
MIRT2214241	hsa-miR-4728-5p	CLIP-seq
MIRT942636	hsa-miR-483-3p	CLIP-seq
MIRT942642	hsa-miR-506	CLIP-seq
MIRT2214242	hsa-miR-520d-5p	CLIP-seq
MIRT2214243	hsa-miR-524-5p	CLIP-seq
MIRT942646	hsa-miR-548ae	CLIP-seq
MIRT942647	hsa-miR-548aj	CLIP-seq
MIRT942648	hsa-miR-548am	CLIP-seq
MIRT2214244	hsa-miR-548c-3p	CLIP-seq
MIRT942650	hsa-miR-548x	CLIP-seq
MIRT2214245	hsa-miR-92a	CLIP-seq
MIRT2214246	hsa-miR-92b	CLIP-seq
MIRT2214247	hsa-miR-935	CLIP-seq
MIRT2518593	hsa-miR-1228	CLIP-seq
MIRT2518594	hsa-miR-1343	CLIP-seq
MIRT2518595	hsa-miR-149	CLIP-seq
MIRT2518596	hsa-miR-760	CLIP-seq
MIRT2518593	hsa-miR-1228	CLIP-seq
MIRT2518594	hsa-miR-1343	CLIP-seq
MIRT2518595	hsa-miR-149	CLIP-seq
MIRT2518596	hsa-miR-760	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
RBL2	Repression	24316981
SP1	Activation	15362956
SP2	Activation	15362956
SP3	Unknown	15362956

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17303076
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	17303076
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	18567530
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IDA	16543361
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IEA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	NAS	10647011
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	TAS	10433969
GO:0005515	Function	Protein binding	IPI	11735126, 16357870, 16983096, 17303076, 18953337, 19798101, 22094255, 24074865, 27728808, 32968275, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17303076
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32083663
GO:0005634	Component	Nucleus	TAS	10433969
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009008	Function	DNA-methyltransferase activity	IEA
GO:0009008	Function	DNA-methyltransferase activity	NAS	10325416, 10555141, 11102980
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18413740
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051718	Function	DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates	IBA
GO:1902494	Component	Catalytic complex	IPI	32083663

MIM	HGNC	e!Ensembl
602900	2979	ENSG00000088305

Q9UBC3

Protein name

DNA (cytosine-5)-methyltransferase 3B (Dnmt3b) (EC 2.1.1.37) (DNA methyltransferase HsaIIIB) (DNA MTase HsaIIIB) (M.HsaIIIB)

Protein function

Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within

PDB

3FLG , 3QKJ , 5CIU , 5NR3 , 5NRR , 5NRS , 5NRV , 5NV0 , 5NV2 , 5NV7 , 5NVO , 6KDA , 6KDB , 6KDL , 6KDP , 6KDT , 6PA7 , 6R3E , 6U8P , 6U8V , 6U8W , 6U8X , 6U90 , 6U91 , 7O45 , 7V0E , 7X9D , 8EIH , 8EII , 8EIJ , 8EIK , 8XEE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00855	PWWP	223 → 313	PWWP domain	Domain
PF17980	ADD_DNMT3	416 → 471	Cysteine rich ADD domain in DNMT3	Domain
PF00145	DNA_methylase	575 → 725	C-5 cytosine-specific DNA methylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tis

Sequence

MKGDTRHLNGEEDAGGREDSILVNGACSDQSSDSPPILEAIRTPEIRGRRSSSRLSKREV
SSLLSYTQDLTGDGDGEDGDGSDTPVMPKLFRETRTRSESPAVRTRNNNSVSSRERHRPS
PRSTRGRQGRNHVDESPVEFPATRSLRRRATASAGTPWPSPPSSYLTIDLTDDTEDTHGT
PQSSSTPYARLAQDSQQGGMESPQVEADSGDGDSSEYQDGKEFGIGDLVWGKIKGFSWWP
AMVVSWKATSKRQAMSGMRWVQWFGDGKFSEVSADKLVALGLFSQHFNLATFNKLVSYRK
AMYHALEKARVRAGKTFPSSPGDSLEDQLKPMLEWAHGGFKPTGIEGLKPNNTQPVVNKS
KVRRAGSRKLESRKYENKTRRRTADDSATSDYCPAPKRLKTNCYNNGKDRGDEDQSREQM
ASDVANNKSSLEDGCLSCGRKNPVSFHPLFEGGLCQTCRDRFLELFYMYDDDGYQSYCTV
CCEGRELLLCSNTSCCRCFCVECLEVLVGTGTAAEAKLQEPWSCYMCLPQRCHGVLRRRK
DWNVRLQAFFTSDTGLEYEAPKLYPAIPAARRRPIRVLSLFDGIATGYLVLKELGIKVGK
YVASEVCEESIAVGTVKHEGNIKYVNDVRNITKKNIEEWGPFDLVIGGSPCNDLSNVNPA
RKGLYEGTGRLFFEFYHLLNYSRPKEGDDRPFFWMFENVVAMKVGDKRDISRFLECNPVM
IDAIKVSAAHRARYFWGNLPGMNRPVIASKNDKLELQDCLEYNRIAKLKKVQTITTKSNS
IKQGKNQLFPVVMNGKEDVLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVPVIR
HLFAPLKDYFACE

Sequence length

853

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer		PRC2 methylates histones and DNA SUMOylation of DNA methylation proteins

959

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	Pathogenic; Likely pathogenic	rs2145960216, rs2145982663, rs2146082310, rs1219696128, rs867732105, rs121908940, rs121908941, rs121908943, rs547940069, rs121908946, rs2515523115, rs745507181, rs760640013, rs1191203668, rs2515648455 View all (14 more)	RCV001380868 RCV001383314 RCV002037908 RCV003594182 RCV003050554 RCV002512865 RCV002227999 RCV002512866 RCV003593854 RCV003593855 RCV003595050 RCV003593415 RCV003593401 RCV003593402 RCV003593521 RCV003594379 RCV003594465 RCV003758211 RCV003758450 RCV003758434 RCV003759473 RCV003824047 RCV003856653 RCV000543048 RCV002234880 RCV001221994 RCV001225027 RCV001232126 RCV001237586
Facioscapulohumeral muscular dystrophy 4, digenic	Pathogenic; Likely pathogenic	rs2146029958, rs121908943	RCV001568341 RCV005031403
Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Likely pathogenic; Pathogenic	rs2146098171, rs1219696128, rs121908939, rs121908940, rs121908941, rs121908942, rs121908943, rs547940069, rs121908944, rs121908945, rs121908946, rs121908947, rs1368779496	RCV002244166 RCV002281886 RCV000007125 RCV000007126 RCV005055507 RCV000007128 RCV000007132 RCV000007133 RCV000007134 RCV000007135 RCV000007136 RCV000007137 RCV000814474

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign; Benign	rs372209864, rs2424926	RCV005930635 RCV005896239
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs374913902	RCV005896237
DNMT3B-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs755091404, rs371630760, rs200912653, rs754263993, rs140395707, rs776808076, rs777676882, rs371416202, rs150314851, rs2424926, rs146299831, rs77355896, rs151128145, rs145694804, rs730823 View all (10 more)	RCV003908550 RCV003940875 RCV003948834 RCV003963487 RCV003418683 RCV004755023 RCV003901511 RCV003904021 RCV003922474 RCV003922475 RCV003912424 RCV003932349 RCV003922476 RCV004731002 RCV003953125 RCV003945606 RCV003937912 RCV003928070 RCV003411801 RCV003960788 RCV003957976 RCV003968082 RCV003923218 RCV003970488 RCV003942886 RCV003393825
Familial cancer of breast	Benign	rs2424922, rs1997797	RCV005896238 RCV005896242
Gastric cancer	Uncertain significance	rs764722946	RCV005930593
Kabuki syndrome 1	Conflicting classifications of pathogenicity	rs143462810	RCV000578148
Sarcoma	Benign	rs2424926	RCV005896240
See cases	Conflicting classifications of pathogenicity	rs35846833	RCV002252154
Uterine corpus endometrial carcinoma	Benign	rs2424926	RCV005896241

Show/Hide Text Mining Associations (154)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	21347319
Adrenal Insufficiency	Associate	25126948
Alzheimer Disease	Associate	36646969
Arthritis	Associate	28349196
Atherosclerosis	Associate	32067910
Atrial Fibrillation	Associate	28846808
Autistic Disorder	Associate	25290267
Autoimmune Diseases	Associate	36544766
Azoospermia	Associate	25739334
Biliary Atresia	Associate	29748604, 30906331
Bipolar Disorder	Associate	28830794, 33875800
Breast Neoplasms	Associate	15217506, 15606925, 15962389, 18221536, 18670789, 19358274, 20830311, 22520950, 22664488, 24297604, 26070560, 26556862, 26980709, 28351365, 29796115 View all (4 more)
Breast Neoplasms	Stimulate	17094413, 31880901
Burkitt Lymphoma	Associate	29318382, 32424339
Carcinogenesis	Associate	18455294, 18662374, 19723660, 20467490, 22394436, 23857059, 24069326, 24423239, 25263941, 26254611, 26262893, 26406961, 27317771, 33221743
Carcinoma Embryonal	Associate	17993720, 19951990, 23300844, 24386123
Carcinoma Endometrioid	Associate	30614867
Carcinoma Hepatocellular	Associate	18023104, 20398055, 21625215, 23545144, 26254611, 26850594, 29425759, 33247696, 33522955, 34319031, 35931200, 38168140
Carcinoma in Situ	Associate	24292451
Carcinoma Non Small Cell Lung	Associate	18414412, 30396166, 34957997, 34970791
Carcinoma Ovarian Epithelial	Associate	22768205
Carcinoma Pancreatic Ductal	Associate	24423239
Carcinoma Renal Cell	Associate	25550796, 28160561, 34133843, 37737260
Carcinoma Squamous Cell	Associate	18414412, 20951977
Chemical and Drug Induced Liver Injury	Associate	38168140
Cholangiocarcinoma	Associate	37486965
Cognition Disorders	Associate	22207353
Colonic Neoplasms	Associate	19470733, 34086943
Colorectal Neoplasms	Associate	16421593, 18662374, 19470733, 19723660, 20960050, 22563479, 23368921, 23708667, 25769449, 26108676, 26406961, 27356727, 27668319, 28300471, 32119177, 32711442, 35763627, 37394872 View all (3 more)
Colorectal Neoplasms	Stimulate	36655868
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	31828117
COVID 19	Inhibit	36840831
Diabetes Mellitus	Associate	31811564
Diabetes Mellitus Type 2	Stimulate	37066707
Diabetic Nephropathies	Associate	30496316
Diabetic Retinopathy	Associate	37681455
Down Syndrome	Associate	26317209, 27245352, 36980848
Drug Hypersensitivity	Associate	34482638
Drug Related Side Effects and Adverse Reactions	Associate	24603304
Endodermal Sinus Tumor	Associate	21712824
Endometrial Neoplasms	Associate	28220037, 29228451
Endometriosis	Associate	17081533, 26239024
Epstein Barr Virus Infections	Inhibit	21752916
Epstein Barr Virus Infections	Associate	40116629
Esophageal Neoplasms	Associate	32051106
Esophageal Squamous Cell Carcinoma	Associate	21150312
Fetal Growth Retardation	Associate	33389447
Fibrosis	Associate	30906331
Gait Disorders Neurologic	Associate	33904683
Genetic Diseases Inborn	Associate	39290110
Gestational Trophoblastic Disease	Associate	31219560
Glioblastoma	Associate	38368287
Graves Disease	Associate	27237591
Haspeslagh Fryns Muelenaere syndrome	Associate	17149367
Head and Neck Neoplasms	Associate	27391030, 33369477
Heart Defects Congenital	Associate	25846410, 36980848
Heart Septal Defects Atrial	Associate	36980848
Hematologic Diseases	Associate	36544766
Hepatitis Alcoholic	Associate	29425759
Hepatitis C	Associate	23545144
Hepatitis C	Stimulate	26850594
Hepatitis C Chronic	Associate	26850594
Hepatoblastoma	Associate	39595571, 39684755
Hereditary pancreatitis	Associate	36361550
Hirschsprung Disease	Associate	24577265, 26879676
Hodgkin Disease	Inhibit	21752916
Hypoxia	Inhibit	20543577
Hypoxia	Associate	29746587
Idiopathic Pulmonary Fibrosis	Associate	29568927
IgA Deficiency	Associate	33904683
Immunodeficiency syndrome variable	Associate	14645008, 15377381, 17923676, 19482874, 20448464, 21559330, 21596365, 22207353, 22378288, 22595875, 24084724, 25027325, 26161907, 26216346, 26993463 View all (9 more)
Immunodeficiency syndrome variable	Stimulate	23486536
Immunologic Deficiency Syndromes	Associate	16317087, 22595875, 24084724, 27153398, 28334849, 32083663, 33904683, 36544766, 38136588, 39290110
Immunologic Deficiency Syndromes	Stimulate	23486536
Infections	Associate	23545144
Infertility	Associate	28894282
Infertility Male	Associate	28894282
Inflammation	Associate	21830274, 36234773
Intervertebral Disc Degeneration	Associate	35340126
Ischemia	Inhibit	20543577
Kidney Neoplasms	Associate	34133843
Leukemia	Associate	11222358, 36361550
Leukemia Lymphocytic Chronic B Cell	Associate	15467427
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	11222358
Leukemia Myeloid Acute	Associate	11222358, 17353906, 19211935, 21415852, 23251566, 24069326, 24457336, 25204569, 27748863, 32597790, 34862757, 36329185
Leukemia Myelomonocytic Juvenile	Associate	29259247
Leukoplakia	Associate	20951977
Liver Cirrhosis	Associate	38168140
Lung Neoplasms	Associate	15217506, 16434257, 17890317, 21246532, 26942697, 27876061, 29568927, 34587932, 35627221, 38376279
Lupus Erythematosus Systemic	Associate	18194272, 35507987
Lymphatic Metastasis	Associate	22768205, 25550796
Lymphoma Large B Cell Diffuse	Associate	20398054
Lymphoma Non Hodgkin	Associate	33400376
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	25739334
Medulloblastoma	Associate	27543768
Melanoma	Associate	21081840
Melioidosis	Inhibit	28628607
Mental Disorders	Associate	23025623
Mesothelioma Malignant	Associate	16434257, 19233506
Mouth Neoplasms	Associate	31253192, 32238162
Multiple Myeloma	Associate	36043519
Muscular Dystrophy Facioscapulohumeral	Associate	27153398, 28587678, 32467133
Myasthenia Gravis	Associate	24260492, 27999265
Myelodysplastic Syndromes	Associate	32431489
Myotonic Dystrophy	Stimulate	31811564
Nasopharyngeal Carcinoma	Associate	26975503, 27223069, 36061358
Neoplasm Metastasis	Associate	33522955, 35864964, 37394872, 39595571
Neoplasms	Associate	10773079, 12015329, 15217506, 16434257, 17353906, 17938735, 18414412, 18662374, 19074829, 19470733, 19723660, 20847044, 20951977, 21150312, 21521786 View all (36 more)
Neoplasms	Inhibit	11222358, 23368921, 34587932
Neoplasms	Stimulate	21365007, 35226658
Neoplasms Germ Cell and Embryonal	Associate	17993720
Neuroblastoma	Inhibit	20841484
Neuroectodermal Tumors Primitive	Associate	24839957
Obesity	Associate	25651499, 25846410, 34139469
Orofaciodigital syndrome 11	Associate	16317087, 28334849, 32083663, 33904683
Osteosarcoma	Associate	31364725
Ovarian Neoplasms	Associate	22768205, 23666104, 33289590, 36361550
Penile Neoplasms	Associate	28751665
Periodontitis	Associate	32267380, 35507987
Peutz Jeghers Syndrome	Associate	32799895
Precancerous Conditions	Associate	20951977
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36289338
Progressive Transformation of Germinal Centers	Associate	21752916
Prostatic Neoplasms	Associate	17938735, 18637271, 21521786, 21990314, 24001151, 25938433, 30689682, 32159363, 32660355, 34183450, 34227253, 34728570, 37686409, 37900138
Pulmonary Arterial Hypertension	Associate	35581740
Purpura Thrombocytopenic	Associate	36544766
Purpura Thrombocytopenic Idiopathic	Associate	23049596
Retinitis Pigmentosa	Associate	26584543
Retinopathy of Prematurity	Associate	37511576
Rhabdomyosarcoma	Associate	27764816, 34831178
Rhabdomyosarcoma Embryonal	Associate	27764816, 34831178
Sarcoma	Associate	36361550
Scoliosis	Associate	33904683
Seminoma	Associate	17993720, 22394436, 24386123
Sepsis	Associate	28628607
Severe Combined Immunodeficiency	Associate	26584543, 36544766
Small Cell Lung Carcinoma	Stimulate	29845195
Smoke Inhalation Injury	Associate	34587932
Squamous Cell Carcinoma of Head and Neck	Associate	18455294, 22461910, 26505438, 27391030, 31253192, 31969157, 32238162, 33369477
Stomach Neoplasms	Associate	15962389, 22833454, 22942708, 23549984, 25009393, 25823664, 26172537, 26262893, 27356727, 32065219
Syndrome	Associate	20448464
Teratocarcinoma	Associate	24603304
Testicular Germ Cell Tumor	Associate	19951990, 34482638
Thrombasthenia	Associate	35763627
Thymoma	Associate	24260492, 27999265
Thyroid Cancer Papillary	Associate	35864964
Thyroiditis Autoimmune	Associate	27237591
Triple Negative Breast Neoplasms	Associate	40427627
Tuberculosis Multidrug Resistant	Associate	21106767
Urethral Neoplasms	Associate	25126948
Urinary Bladder Neoplasms	Associate	27317771, 28779971, 33221743
Uterine Cervical Neoplasms	Associate	28459195, 36653180
Vascular Diseases	Associate	32067910
Vulvar Lichen Sclerosus	Stimulate	33438816

DNMT3B (DNA methyltransferase 3 beta)