KMT2B (lysine methyltransferase 2B)

Gene

• Entrez ID: 9757
• Gene name: Lysine methyltransferase 2B
• Gene symbol: KMT2B
• Synonyms (NCBI Gene): CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs539483328	->C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748888652	C>G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs763183959	C>-,CC	Pathogenic	5 prime UTR variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs764234724	->C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs779863547	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519278	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057519279	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1057519280	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057519281	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs1057519282	->C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1057519283	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1057519284	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs1085307751	A>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1459799356	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555727493	->GGCGGGCGGCGGC	Pathogenic	5 prime UTR variant, upstream transcript variant, non coding transcript variant, initiator codon variant, genic upstream transcript variant, frameshift variant
rs1555729045	C>T	Pathogenic	Stop gained, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555729827	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555730069	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555730957	C>A,T	Pathogenic, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1555731819	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555731832	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555731976	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555732564	TCCCCCCAGACGTTCCCGTCGTCCCAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555732987	->GCACGCCTCCTTCGGGGCCAGG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555734445	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555734923	C>T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs1568374482	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568377293	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568377563	ATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, downstream transcript variant, genic downstream transcript variant
rs1568379151	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599665134	->GGGCGGCGGC	Pathogenic	5 prime UTR variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599668553	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599669836	->AGCCC	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599676503	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1599677213	GGGCGGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599679995	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1599680351	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1599687853	C>T	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs1599689373	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599695744	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT556671	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	22012620
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT536447	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT536445	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536440	hsa-miR-5692a	PAR-CLIP	22012620
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	22012620
MIRT536435	hsa-miR-3154	PAR-CLIP	22012620
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	22012620
MIRT536433	hsa-miR-7515	PAR-CLIP	22012620
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT556671	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	22012620
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT536447	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT536445	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536440	hsa-miR-5692a	PAR-CLIP	22012620
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	22012620
MIRT536435	hsa-miR-3154	PAR-CLIP	22012620
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	22012620
MIRT536433	hsa-miR-7515	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17021013, 17474147, 18840606, 19047629, 19433796, 22266653, 22665483, 23995757, 24788516, 24981860, 26886794, 27705803, 28514442, 33961781, 37725512
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	29276034
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0035097	Component	Histone methyltransferase complex	IBA
GO:0035097	Component	Histone methyltransferase complex	IDA
GO:0035097	Component	Histone methyltransferase complex	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IDA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IMP	17166833
GO:0044665	Component	MLL1/2 complex	IEA
GO:0044665	Component	MLL1/2 complex	IPI	23508102
GO:0045322	Function	Unmethylated CpG binding	IDA	29276034
GO:0045322	Function	Unmethylated CpG binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0140945	Function	Histone H3K4 monomethyltransferase activity	IEA
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IEA

Other IDs

• MIM: 606834
• HGNC: 15840
• e!Ensembl: ENSG00000272333

Protein

• UniProt ID: Q9UMN6
• Protein name: Histone-lysine N-methyltransferase 2B (Lysine N-methyltransferase 2B) (EC 2.1.1.364) (Myeloid/lymphoid or mixed-lineage leukemia protein 4) (Trithorax homolog 2) (WW domain-binding protein 7) (WBP-7)
• Protein function: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K
• PDB: 3UVM, 4ERZ, 4PZI, 7BRE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02008	zf-CXXC	958 → 1005	CXXC zinc finger domain	Domain
  PF00628	PHD	1251 → 1303	PHD-finger	Domain
  PF00628	PHD	1337 → 1396	PHD-finger	Domain
  PF13771	zf-HC5HC2H	1608 → 1686		Domain
  PF05964	FYRN	1733 → 1780	F/Y-rich N-terminus	Family
  PF05965	FYRC	2411 → 2493	F/Y rich C-terminus	Family
  PF00856	SET	2586 → 2691	SET domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, periphe
• Sequence:

  MAAAAGGGSCPGPGSARGRFPGRPRGAGGGGGRGGRGNGAERVRVALRRGGGATGPGGAE
  PGEDTALLRLLGLRRGLRRLRRLWAGPRVQRGRGRGRGRGWGPSRGCVPEEESSDGESDE
  EEFQGFHSDEDVAPSSLRSALRSQRGRAPRGRGRKHKTTPLPPPRLADVAPTPPKTPARK
  RGEEGTERMVQALTELLRRAQAPQAPRSRACEPSTPRRSRGRPPGRPAGPCRRKQQAVVV
  AEAAVTIPKPEPPPPVVPVKHQTGSWKCKEGPGPGPGTPRRGGQSSRGGRGGRGRGRGGG
  LPFVIKFVSRAKKVKMGQLSLGLESGQGQGQHEESWQDVPQRRVGSGQGGSPCWKKQEQK
  LDDEEEEKKEEEEKDKEGEEKEERAVAEEMMPAAEKEEAKLPPPPLTPPAPSPPPPLPPP
  STSPPPPLCPPPPPPVSPPPLPSPPPPPAQEEQEESPPPVVPATCSRKRGRPPLTPSQRA
  EREAARAGPEGTSPPTPTPSTATGGPPEDSPTVAPKSTTFLKNIRQFIMPVVSARSSRVI
  KTPRRFMDEDPPKPPKVEVSPVLRPPITTSPPVPQEPAPVPSPPRAPTPPSTPVPLPEKR
  RSILREPTFRWTSLTRELPPPPPAPPPPPAPSPPPAPATSSRRPLLLRAPQFTPSEAHLK
  IYESVLTPPPLGAPEAPEPEPPPADDSPAEPEPRAVGRTNHLSLPRFAPVVTTPVKAEVS
  PHGAPALSNGPQTQAQLLQPLQALQTQLLPQALPPPQPQLQPPPSPQQMPPLEKARIAGV
  GSLPLSGVEEKMFSLLKRAKVQLFKIDQQQQQKVAASMPLSPGGQMEEVAGAVKQISDRG
  PVRSEDESVEAKRERPSGPESPVQGPRIKHVCRHAAVALGQARAMVPEDVPRLSALPLRD
  RQDLATEDTSSASETESVPSRSRRGKVEAAGPGGESEPTGSGGTLAHTPRRSLPSHHGKK
  MRMARCGHCRGCLRVQDCGSCVNCLDKPKFGGPNTKKQCCVYRKCDKIEARKMERLAKKG
  RTIVKTLLPWDSDESPEASPGPPGPRRGAGAGGPREEVVAHPGPEEQDSLLQRKSARRCV
  KQRPSYDIFEDSDDSEPGGPPAPRRRTPRENELPLPEPEEQSRPRKPTLQPVLQLKARRR
  LDKDALAPGPFASFPNGWTGKQKSPDGVHRVRVDFKEDCDLENVWLMGGLSVLTSVPGGP
  PMVCLLCASKGLHELVFCQVCCDPFHPFCLEEAERPLPQHHDTWCCRRCKFCHVCGRKGR
  GSKHLLECERCRHAYHPACLGPSYPTRATRKRRHWICSACVRCKSCGATPGKNWDVEWSG
  DYSLCPRCTQLYEKGNYCPICTRCYEDNDYESKMMQCAQCDHWVHAKCEGLSDEDYEILS
  GLPDSVLYTCGPCAGAAQPRWREALSGALQGGLRQVLQGLLSSKVVGPLLLCTQCGPDGK
  QLHPGPCGLQAVSQRFEDGHYKSVHSFMEDMVGILMRHSEEGETPDRRAGGQMKGLLLKL
  LESAFGWFDAHDPKYWRRSTRLPNGVLPNAVLPPSLDHVYAQWRQQEPETPESGQPPGDP
  SAAFQGKDPAAFSHLEDPRQCALCLKYGDADSKEAGRLLYIGQNEWTHVNCAIWSAEVFE
  ENDGSLKNVHAAVARGRQMRCELCLKPGATVGCCLSSCLSNFHFMCARASYCIFQDDKKV
  FCQKHTDLLDGKEIVNPDGFDVLRRVYVDFEGINFKRKFLTGLEPDAINVLIGSIRIDSL
  GTLSDLSDCEGRLFPIGYQCSRLYWSTVDARRRCWYRCRILEYRPWGPREEPAHLEAAEE
  NQTIVHSPAPSSEPPGGEDPPLDTDVLVPGAPERHSPIQNLDPPLRPDSGSAPPPAPRSF
  SGARIKVPNYSPSRRPLGGVSFGPLPSPGSPSSLTHHIPTVGDPDFPAPPRRSRRPSPLA
  PRPPPSRWASPPLKTSPQLRVPPPTSVVTALTPTSGELAPPGPAPSPPPPEDLGPDFEDM
  EVVSGLSAADLDFAASLLGTEPFQEEIVAAGAMGSSHGGPGDSSEEESSPTSRYIHFPVT
  VVSAPGLAPSATPGAPRIEQLDGVDDGTDSEAEAVQQPRGQGTPPSGPGVVRAGVLGAAG
  DRARPPEDLPSEIVDFVLKNLGGPGDGGAGPREESLPPAPPLANGSQPSQGLTASPADPT
  RTFAWLPGAPGVRVLSLGPAPEPPKPATSKIILVNKLGQVFVKMAGEGEPVPPPVKQPPL
  PPTISPTAPTSWTLPPGPLLGVLPVVGVVRPAPPPPPPPLTLVLSSGPASPPRQAIRVKR
  VSTFSGRSPPAPPPYKAPRLDEDGEASEDTPQVPGLGSGGFSRVRMKTPTVRGVLDLDRP
  GEPAGEESPGPLQERSPLLPLPEDGPPQVPDGPPDLLLESQWHHYSGEASSSEEEPPSPD
  DKENQAPKRTGPHLRFEISSEDGFSVEAESLEGAWRTLIEKVQEARGHARLRHLSFSGMS
  GARLLGIHHDAVIFLAEQLPGAQRCQHYKFRYHQQGEGQEEPPLNPHGAARAEVYLRKCT
  FDMFNFLASQHRVLPEGATCDEEEDEVQLRSTRRATSLELPMAMRFRHLKKTSKEAVGVY
  RSAIHGRGLFCKRNIDAGEMVIEYSGIVIRSVLTDKREKFYDGKGIGCYMFRMDDFDVVD
  ATMHGNAARFINHSCEPNCFSRVIHVEGQKHIVIFALRRILRGEELTYDYKFPIEDASNK
  LPCNCGAKRCRRFLN

• Sequence length: 2715

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Pathogenic	rs1599677213	RCV001004005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Likely pathogenic	rs1969025340	RCV001250455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs1459799356	RCV005912222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Pathogenic	rs1599677213, rs1599695744	RCV001004005 RCV001004007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 28, childhood-onset	Likely pathogenic; Pathogenic	rs2146455000, rs2146481256, rs1568384928, rs775294431, rs754806477, rs2146483064, rs2146461810, rs2146479981, rs2146434180, rs2146462970, rs2146482963, rs2513350390, rs2513333325, rs1333513923, rs2513357403, rs2146481783, rs2513342452, rs2513346049, rs2513344954, rs2513344824, rs2513311644, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs1555727493, rs763183959, rs1555731819, rs1555731976, rs1568379151, rs1599689373, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599665134, rs1599668553, rs1969024891, rs1969146161, rs1969359289, rs2513330332	RCV001375861 RCV001526449 RCV001542502 RCV005867191 RCV001724751 RCV001775255 RCV002037089 RCV002226887 RCV002250081 RCV002251231 RCV002274466 RCV002287852 RCV002291189 RCV002468731 RCV002468732 RCV002468733 RCV003153127 RCV003388190 RCV003324629 RCV003335868 RCV003989456 RCV000415586 RCV000415516 RCV000415558 RCV000415591 RCV000415532 RCV000415564 RCV000415597 RCV000991204 RCV000578228 RCV000626041 RCV005253008 RCV000681653 RCV000853309 RCV000995570 RCV000995571 RCV000995572 RCV000995573 RCV000995574 RCV002051908 RCV001249393 RCV001090139 RCV001251193 RCV001254089 RCV001270387	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs2146469485, rs1599676503, rs1599677213	RCV001543352 RCV001004004 RCV001004005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized dystonia	Pathogenic	rs1599695744	RCV001004007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs748888652	RCV001255391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs1459799356	RCV005912223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 68	Pathogenic	rs2513323502, rs2513344818, rs2513345836, rs1555727493, rs1599665134	RCV003223503 RCV003236632 RCV003596258 RCV004796227 RCV004594240	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KMT2B-related disorder	Likely pathogenic	rs2146440365, rs2513344926	RCV001795592 RCV004552572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs1568374482	RCV005897329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonus	Pathogenic	rs1599677213	RCV001004005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs775294431	RCV004671505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2513330269	RCV001257018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Specific learning disability	Pathogenic	rs1599677213	RCV001004005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Castleman-Kojima disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER WITH MOTOR FEATURES	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 28	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIC DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KABUKI MAKE-UP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Poor motor coordination	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, ANASARCA, FEVER, RENAL INSUFFICIENCY, ORGANOMEGALY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30028819		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29422640		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	27102345		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29861161		★☆☆☆☆ Found in Text Mining only
Adult-Onset Dystonias	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Focal Dystonias	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Torsion Dystonias	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25993995		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	34296393	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25993995		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Familial Dystonia	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Familial Dystonia	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23015417, 30693983, 7493380		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27387124		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19566940, 20937768, 24491801, 27806114		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22697792, 25927147, 27806114	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23045699, 28390392	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	29422640	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	29422640		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23728943, 25901726, 27339696, 28361674, 30872350, 31375600, 33355042, 33557409, 34071075	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27387124		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29506494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30885352	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28551792		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33126883	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10558869		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28390392		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28390392		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	26290144, 29861161		★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	BEFREE	27992417, 31216378		★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	23045699	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	22126750	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28524162	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31849331		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21658225	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	21607748, 21671394		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28551792		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21725364		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	36122281	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22740433, 35415007, 39933316	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31127101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33995275	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21796119, 21804550, 26366712, 27102345		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24527667		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysgraphia	Dysgraphia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29086067		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	27839873, 27992417, 31731261, 32546208, 32886413, 33150406, 33446253, 34380541, 34747823, 35022352, 35041927, 35415007, 35506254, 36122281, 36445406, 37041082, 39933316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 28, CHILDHOOD-ONSET	Dystonia	CLINVAR_DG	27839873, 27992417, 28520167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 28, CHILDHOOD-ONSET	Dystonia	UNIPROT_DG	27839873, 27992417		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 28, CHILDHOOD-ONSET	Dystonia	GENOMICS_ENGLAND_DG	27992417, 31216378		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 28, CHILDHOOD-ONSET	Dystonia	BEFREE	29289525		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonia Disorders	Dystonia	BEFREE	27839873, 27992417, 28283962, 28520167, 29086067, 29276005, 29289525, 29653907, 30355503, 31165786, 31216378, 31388109, 31768667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Disorders	Dystonia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, Primary	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dystonias, Sporadic	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	33150406, 34380541, 35022352, 36122281, 37041082, 37365401	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36958196	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29532228	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30230575		★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10637508, 27367247, 28295288		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26496030, 37974198	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10637508, 27367247, 28295288		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26902498		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26902498	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29276005		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	29950560		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34747823	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28551792		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24656127, 28375985		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	34071075	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	30676414		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	36054588	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	23042018		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	24311525		★☆☆☆☆ Found in Text Mining only
Idiopathic familial dystonia	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21658225, 25405613, 31216378		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21658225, 25405613, 34747823, 36122281	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	20711175, 21280141, 21607748, 21658225, 21671394, 22126750, 22197486, 22437206, 22740433, 22840376, 22901312, 23042018, 23130995, 23320472, 23913813, 24311525, 24346842, 24472332, 24527667, 26841933, 27573763, 29307790, 30509212, 30676414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome	Kabuki syndrome	Pubtator	20711175, 21658225, 21671394, 22126750, 22197486, 22740433, 23249737, 24472332, 25421742, 27922244, 35506254	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22126750	Associate	★☆☆☆☆ Found in Text Mining only
Kleefstra syndrome	Kleefstra Syndrome	BEFREE	25405613		★☆☆☆☆ Found in Text Mining only
Kleefstra Syndrome	Kleefstra syndrome	Pubtator	25405613	Associate	★☆☆☆☆ Found in Text Mining only
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	BEFREE	25405613		★☆☆☆☆ Found in Text Mining only
Lactate Dehydrogenase B Deficiency	Lactate Dehydrogenase B Deficiency	BEFREE	31018154		★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21683083, 26267306	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28375985, 28609655, 30488017		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30315824		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29037125		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16115921, 18320596, 24379610, 25004829, 25139254, 25901726, 27339696, 29569721		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22634754		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27339696		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	27339696	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28672935		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	21796119, 24162788, 27102345	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21796119, 26366712, 27102345, 28805986, 30693983		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19566940, 20937768, 24491801, 27806114		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29037125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22722839		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25882375, 30177394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27387124		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10637508, 22126750, 24081332, 24656127, 25794446, 26461093, 26883360, 27095575, 27638352, 28390392, 28440315, 29532228, 29627316, 29950560, 30030490, 30604749, 30753822, 31127101, 31128216, 31560893, 31676369		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28390392		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31849331		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22820256, 22832583	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29861161		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30257313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	21658225		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34747823	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	25421742	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29037125	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10409430, 16540515, 19344873, 21892160, 23426673, 25405613, 27320412, 27839873, 27992417		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29483845		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15663355, 22832583, 23184418, 24121791, 24145436, 25004829, 25299233, 26841698, 27095575, 27367247, 28805986, 29404406, 29532228, 29861161, 29954944, 31660637		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25112956		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30230575		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24879340, 32139151	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	24346842		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30028819		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	31549733		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29852184		★☆☆☆☆ Found in Text Mining only
Pseudodystonia	Pycnodysostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30030490		★☆☆☆☆ Found in Text Mining only
Retinal lattice degeneration	Retinal Lattice Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retrocollis	Retrocollis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retrocollis	Retrocollis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	31882696	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27922244	Associate	★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27095575, 31660637		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24670651, 29532228, 31676369		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25275298, 27095575	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28177435		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30230575		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25882375, 30177394		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33126883, 40149431	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22437206		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34793662	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28390392, 36594087	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	34462944	Associate	★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	CTD_human_DG			★☆☆☆☆ Found in Text Mining only