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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8085
Gene name Gene Name - the full gene name approved by the HGNC.	Lysine methyltransferase 2D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KMT2D
Synonyms (NCBI Gene) Gene synonyms aliases	AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs764942	C>G,T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs35493001	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs35584294	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs73302197	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs113282510	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs137955659	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs143063879	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs143711798	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs181733689	G>C,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs182926808	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs183347186	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs186151848	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs188017299	G>A,T	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs200088180	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200089754	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200155807	T>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs200315963	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200601717	G>T	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs201114196	G>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201219613	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs201283589	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201357509	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs201686029	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs201709328	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs201794205	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs202217665	C>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs267607237	C>T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs267607238	G>A	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs267607239	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs267607240	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs367537992	A>-	Likely-pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant
rs369436545	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs370414767	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs370492566	G>A,T	Likely-benign, likely-pathogenic, not-provided	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs373858319	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374077422	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs375169999	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs375538882	CCTGCGGAGATAGGTGTGGCTCCTCAG>-	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, coding sequence variant, inframe deletion
rs377392943	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs377452989	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs398123699	ACACAGA>CGTGACTTGCG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123700	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs398123701	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123702	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123704	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123706	CA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123708	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123711	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123712	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123715	G>-,GG	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, frameshift variant
rs398123716	G>-	Pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123720	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123721	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant, stop gained
rs398123722	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs398123723	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs398123724	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant, missense variant, coding sequence variant
rs398123725	CCAGGT>-,CCAGGTCCAGGT	Likely-pathogenic, uncertain-significance	Intron variant, inframe insertion, coding sequence variant, inframe deletion
rs398123726	A>C,G	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs398123728	G>A,T	Uncertain-significance, pathogenic	Intron variant, missense variant, coding sequence variant
rs398123729	C>A,G,T	Likely-pathogenic, pathogenic	Intron variant, missense variant, coding sequence variant
rs398123732	AATA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123733	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123734	C>T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398123735	TTCTCCCGCCGGTTGGC>G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123741	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123743	CTCCGCTGATAGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123744	AT>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123750	T>C	Pathogenic	Splice acceptor variant
rs398123751	GTCGGGCT>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123753	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123756	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs398123757	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123758	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs556669370	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs574622908	G>C,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs576788910	CTGCTGCTG>-,CTG,CTGCTG,CTGCTGCTGCTG,CTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, inframe deletion, inframe insertion, non coding transcript variant
rs587778483	C>G	Likely-pathogenic, likely-benign, benign	Coding sequence variant, missense variant, non coding transcript variant
rs587783681	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783682	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs587783683	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783685	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783686	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783687	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783688	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783689	AGGT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783690	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783691	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783692	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783693	TC>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783695	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs587783696	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs587783697	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783698	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783699	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783700	T>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587783702	C>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587783703	TTAG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783704	GAT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion, non coding transcript variant
rs587783705	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783708	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783711	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783712	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783713	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783714	C>G	Pathogenic	Splice donor variant
rs587783715	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783718	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs587783719	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783723	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783725	CCCCT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783727	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783728	GGGCT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783729	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs727503979	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs727503983	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs727503985	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs727503986	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs727503987	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs727503988	C>T	Pathogenic	Splice donor variant
rs727503989	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs727503990	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs747636808	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs756471180	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs758555274	G>A,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs759803583	CTGCTGTTGCTGCTGTTG>-,CTGCTGTTG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs763440821	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs767415197	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs767591619	A>C,T	Likely-pathogenic	Splice donor variant
rs767737749	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs769483933	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs770315135	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs771212750	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs773395827	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs779139301	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs781145102	C>A,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs786205478	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs793888511	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs793888512	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs793888513	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs793888514	TCAT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs793888515	C>G	Likely-pathogenic	Splice acceptor variant
rs794727143	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs794727342	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs794727379	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727420	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs794727497	TGTGGACACAC>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs794727548	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727549	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs794727610	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727611	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727688	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs794727689	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs794727752	C>A	Pathogenic	Splice donor variant
rs796065328	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797044630	CG>GGATGGCTCAGCT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797044740	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797044744	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045001	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs797045658	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045659	G>A,C	Pathogenic	Intron variant, missense variant, stop gained, coding sequence variant
rs797045660	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045661	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045662	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045663	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045667	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045668	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045669	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045670	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045671	->CTGTTGTTGCTGCCACAGTTGTTGCTGTTGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797045672	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224890	G>A,C	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs867333942	C>A,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs886039399	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886040960	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886041106	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041398	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041404	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs886041405	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041406	C>A	Pathogenic	Splice donor variant
rs886041408	T>C	Pathogenic	Intron variant
rs886041416	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886041499	CTTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886041556	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886041558	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041627	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886041660	CGGCCGCCCG>TA	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041779	C>T	Pathogenic	Splice donor variant
rs886042253	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs886042284	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886043252	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886043414	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886043495	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886043497	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs886043505	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886043506	TG>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs940178682	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs1057516039	C>T	Pathogenic	Splice donor variant
rs1057517992	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057518149	C>A,T	Pathogenic	Splice donor variant
rs1057518186	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057518571	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057518680	G>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519067	CTGT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519422	C>A,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1057519595	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057520167	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs1057520573	T>C	Pathogenic	Splice acceptor variant
rs1057520667	C>T	Pathogenic	Splice acceptor variant
rs1057520722	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057520740	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057524689	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1060499552	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1060499669	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1060499724	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064793649	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064793884	TAAC>-	Pathogenic	Intron variant, splice donor variant
rs1064794007	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064794026	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796043	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064796125	G>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064796275	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064796300	GTTTCAGCA>-	Pathogenic	Non coding transcript variant, stop gained, inframe indel, coding sequence variant
rs1064796855	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064796995	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797168	CA>-	Likely-pathogenic	Non coding transcript variant, stop gained, inframe indel, coding sequence variant
rs1114167348	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1131691768	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1210590639	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs1240601136	G>-,GGGG	Pathogenic	Non coding transcript variant, coding sequence variant, inframe insertion, frameshift variant
rs1251778848	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1290729871	C>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1333678798	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1350605713	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs1355372507	G>A,C	Likely-pathogenic	Intron variant
rs1364500207	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1422752351	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1452715535	G>A,C	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, missense variant
rs1555184624	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555184635	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555184684	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555184777	A>C,G	Likely-pathogenic	Splice donor variant
rs1555184782	C>A	Likely-pathogenic	Splice donor variant
rs1555184787	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555184893	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555185217	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555185299	C>T	Likely-pathogenic	Splice donor variant
rs1555185301	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555185337	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555185358	A>C	Likely-pathogenic	Intron variant
rs1555185610	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555185699	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555185817	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555185875	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs1555185969	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1555185978	G>TT	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555186044	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555186053	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555186066	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555186079	G>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1555186087	AGTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555186232	C>A,T	Likely-pathogenic	Splice donor variant
rs1555186257	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555186428	C>G	Likely-pathogenic	Splice donor variant
rs1555186436	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555186520	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555186527	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555186619	GACATCCT>-	Pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1555186627	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555186842	->GTGCCCTT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187105	->TGGTA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187117	G>C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555187440	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187452	->TG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187461	G>C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555187485	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187575	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555187577	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187741	->TC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555187758	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555187869	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555187899	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555187956	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188026	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188080	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188129	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188155	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188379	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188430	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188469	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188501	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188515	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188518	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188520	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188537	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188561	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188623	->AGCCTGTGTCC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188651	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188653	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555188670	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188687	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188704	C>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555188885	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555189038	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555189307	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555189421	A>C	Likely-pathogenic	Splice donor variant
rs1555189450	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555189455	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555189467	C>T	Likely-pathogenic	Intron variant
rs1555190224	AAG>T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190324	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190375	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190391	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190550	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190635	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190806	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190907	CCC>TG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555190924	GATG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555191147	G>C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555191177	->GCTG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555191203	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555191324	TA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555191521	->TCTG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555191598	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555191665	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555191740	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555192051	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192113	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555192192	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192210	CAGA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192218	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192437	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192451	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192457	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192531	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192667	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192676	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555192751	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192788	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555192996	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs1555193738	GTCT>-	Pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555193755	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555193912	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555194045	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555194236	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555194303	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555194443	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555194510	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555194822	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555195118	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555195441	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555195442	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555195573	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555195933	CCTGTTTG>ACTGTTTC	Pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1555196016	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555196084	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555196415	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555196459	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555196590	G>C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555196720	AG>TTTTGGCCT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555196742	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555196984	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555197101	AGTC>GA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555197320	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555197682	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555197738	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555198201	T>C	Likely-pathogenic	Splice acceptor variant
rs1555198244	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555198318	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555198491	->GC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555198522	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555198590	CA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555198640	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555198655	T>A	Pathogenic	Splice acceptor variant
rs1555198886	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555198921	C>A	Likely-pathogenic	Splice acceptor variant
rs1565753611	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565756106	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565756115	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565756561	AC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565763192	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565771606	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565773113	AGATAAGGCTCCTGGT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565773662	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565776616	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565779530	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565780936	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565781216	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565788703	TG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565789104	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565789522	ATGGAGGTTGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565790685	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565790749	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1565798715	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565802369	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565807707	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565809463	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1565812092	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565813691	CAGGGCTGGGG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565817210	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565819425	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565820584	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565822457	C>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1565826250	C>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1592099335	CTGGATACGGGAGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592102369	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592105909	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1592106062	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1592106220	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1592106511	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1592106640	GCC>AACA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1592106879	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1592110749	T>G	Likely-pathogenic	Splice acceptor variant
rs1592112854	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592116475	TT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592116886	CTGT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592117125	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592118753	->TGAC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592118953	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592118976	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592119138	GCTGCTGCTGTTGAA>-	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant, non coding transcript variant
rs1592122640	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592123024	->CT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592123162	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592129081	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592129138	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592130816	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592131106	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592131399	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592132971	C>T	Pathogenic	Splice acceptor variant
rs1592133086	C>T	Pathogenic	Splice donor variant
rs1592133696	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592135715	GAGGGCAGTGAGCGAGGGGGCAGAGCACAGCA>AGT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592136242	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592136317	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592136884	->GT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592137369	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592137413	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592138822	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592139221	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592139573	C>A	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs1592142093	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592142239	->CAGCAGGT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592145939	ATAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592146526	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592150075	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592151169	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592152233	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592153986	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592156633	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592157134	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592157335	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592157505	CTCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592159322	AGAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592159924	->A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592160494	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592161182	TGGCAGTCGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592162768	C>T	Pathogenic	Splice donor variant
rs1592162790	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

Show/Hide all(598)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020244	hsa-miR-130b-3p	Sequencing	20371350
MIRT021140	hsa-miR-186-5p	Sequencing	20371350
MIRT021394	hsa-miR-9-5p	Sequencing	20371350
MIRT025558	hsa-miR-34a-5p	Proteomics	21566225
MIRT028093	hsa-miR-93-5p	Sequencing	20371350
MIRT050025	hsa-miR-27a-3p	CLASH	23622248
MIRT049163	hsa-miR-92a-3p	CLASH	23622248
MIRT049163	hsa-miR-92a-3p	CLASH	23622248
MIRT049163	hsa-miR-92a-3p	CLASH	23622248
MIRT028093	hsa-miR-93-5p	CLASH	23622248
MIRT047911	hsa-miR-30c-5p	CLASH	23622248
MIRT046827	hsa-miR-222-3p	CLASH	23622248
MIRT046526	hsa-miR-15b-5p	CLASH	23622248
MIRT045979	hsa-miR-125b-5p	CLASH	23622248
MIRT044425	hsa-miR-320a	CLASH	23622248
MIRT044297	hsa-miR-106b-5p	CLASH	23622248
MIRT042681	hsa-miR-196b-5p	CLASH	23622248
MIRT040931	hsa-miR-18a-3p	CLASH	23622248
MIRT040527	hsa-miR-92b-3p	CLASH	23622248
MIRT039869	hsa-miR-615-3p	CLASH	23622248
MIRT039869	hsa-miR-615-3p	CLASH	23622248
MIRT039045	hsa-miR-766-3p	CLASH	23622248
MIRT037627	hsa-miR-744-5p	CLASH	23622248
MIRT037311	hsa-miR-877-5p	CLASH	23622248
MIRT036755	hsa-miR-760	CLASH	23622248
MIRT036547	hsa-miR-1224-3p	CLASH	23622248
MIRT036326	hsa-miR-1229-3p	CLASH	23622248
MIRT556670	hsa-miR-1224-5p	PAR-CLIP	20371350
MIRT556669	hsa-miR-646	PAR-CLIP	20371350
MIRT556664	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT556663	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT556662	hsa-miR-4660	PAR-CLIP	20371350
MIRT556661	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT556659	hsa-miR-3915	PAR-CLIP	20371350
MIRT556658	hsa-miR-4689	PAR-CLIP	20371350
MIRT556657	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT556656	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT556655	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT556654	hsa-miR-5047	PAR-CLIP	20371350
MIRT556653	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT556652	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT556670	hsa-miR-1224-5p	PAR-CLIP	20371350
MIRT556669	hsa-miR-646	PAR-CLIP	20371350
MIRT566999	hsa-miR-4469	PAR-CLIP	20371350
MIRT556667	hsa-miR-7113-3p	PAR-CLIP	20371350
MIRT556668	hsa-miR-4287	PAR-CLIP	20371350
MIRT556666	hsa-miR-4685-3p	PAR-CLIP	20371350
MIRT556664	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT556663	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT556662	hsa-miR-4660	PAR-CLIP	20371350
MIRT556661	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT556660	hsa-miR-6867-3p	PAR-CLIP	20371350
MIRT556659	hsa-miR-3915	PAR-CLIP	20371350
MIRT556658	hsa-miR-4689	PAR-CLIP	20371350
MIRT556657	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT556656	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT556655	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT556654	hsa-miR-5047	PAR-CLIP	20371350
MIRT556653	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT556652	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT556670	hsa-miR-1224-5p	PAR-CLIP	21572407
MIRT556669	hsa-miR-646	PAR-CLIP	21572407
MIRT556667	hsa-miR-7113-3p	PAR-CLIP	21572407
MIRT556668	hsa-miR-4287	PAR-CLIP	21572407
MIRT556666	hsa-miR-4685-3p	PAR-CLIP	21572407
MIRT556665	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT556664	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT556663	hsa-miR-3928-3p	PAR-CLIP	21572407
MIRT556662	hsa-miR-4660	PAR-CLIP	21572407
MIRT556661	hsa-miR-6828-5p	PAR-CLIP	21572407
MIRT556660	hsa-miR-6867-3p	PAR-CLIP	21572407
MIRT556659	hsa-miR-3915	PAR-CLIP	21572407
MIRT556658	hsa-miR-4689	PAR-CLIP	21572407
MIRT556657	hsa-miR-6858-5p	PAR-CLIP	21572407
MIRT556656	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT556655	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT556654	hsa-miR-5047	PAR-CLIP	21572407
MIRT556653	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT556652	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT502131	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT502130	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT502129	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT502128	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT502127	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT502126	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT502125	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT502123	hsa-miR-4500	PAR-CLIP	21572407
MIRT502124	hsa-miR-4458	PAR-CLIP	21572407
MIRT502122	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT502121	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT502120	hsa-miR-3646	PAR-CLIP	21572407
MIRT502119	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT502118	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT502113	hsa-miR-6748-5p	PAR-CLIP	21572407
MIRT502112	hsa-miR-6793-5p	PAR-CLIP	21572407
MIRT502110	hsa-miR-6741-5p	PAR-CLIP	21572407
MIRT502111	hsa-miR-6759-5p	PAR-CLIP	21572407
MIRT506772	hsa-miR-346	PAR-CLIP	23446348
MIRT506771	hsa-miR-6729-3p	PAR-CLIP	23446348
MIRT506770	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT506769	hsa-miR-1915-3p	PAR-CLIP	23446348
MIRT506768	hsa-miR-6764-5p	PAR-CLIP	23446348
MIRT506767	hsa-miR-4726-3p	PAR-CLIP	23446348
MIRT506766	hsa-miR-3127-3p	PAR-CLIP	23446348
MIRT506765	hsa-miR-6756-3p	PAR-CLIP	23446348
MIRT506764	hsa-miR-6832-3p	PAR-CLIP	23446348
MIRT506763	hsa-miR-1913	PAR-CLIP	23446348
MIRT506762	hsa-miR-324-3p	PAR-CLIP	23446348
MIRT040931	hsa-miR-18a-3p	PAR-CLIP	23446348
MIRT506761	hsa-miR-5699-5p	PAR-CLIP	23446348
MIRT506760	hsa-miR-4758-3p	PAR-CLIP	23446348
MIRT506759	hsa-miR-3189-5p	PAR-CLIP	23446348
MIRT506758	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT506757	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT506756	hsa-miR-4446-5p	PAR-CLIP	23446348
MIRT502131	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT502130	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT502129	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT502128	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT502127	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT502126	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT502125	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT502123	hsa-miR-4500	PAR-CLIP	24398324
MIRT502124	hsa-miR-4458	PAR-CLIP	24398324
MIRT502122	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT502121	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT502120	hsa-miR-3646	PAR-CLIP	24398324
MIRT502119	hsa-miR-1252-3p	PAR-CLIP	24398324
MIRT502118	hsa-miR-202-3p	PAR-CLIP	24398324
MIRT502117	hsa-miR-4706	PAR-CLIP	24398324
MIRT502116	hsa-miR-4749-5p	PAR-CLIP	24398324
MIRT037627	hsa-miR-744-5p	PAR-CLIP	24398324
MIRT502115	hsa-miR-4466	PAR-CLIP	24398324
MIRT502114	hsa-miR-675-5p	PAR-CLIP	24398324
MIRT502113	hsa-miR-6748-5p	PAR-CLIP	24398324
MIRT502112	hsa-miR-6793-5p	PAR-CLIP	24398324
MIRT502110	hsa-miR-6741-5p	PAR-CLIP	24398324
MIRT502111	hsa-miR-6759-5p	PAR-CLIP	24398324
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT474359	hsa-miR-449a	PAR-CLIP	23592263
MIRT474358	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT474352	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT474350	hsa-miR-6134	PAR-CLIP	23592263
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT474348	hsa-miR-8085	PAR-CLIP	23592263
MIRT474347	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT474346	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT474345	hsa-miR-4525	PAR-CLIP	23592263
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT474342	hsa-miR-1294	PAR-CLIP	23592263
MIRT474340	hsa-miR-4447	PAR-CLIP	23592263
MIRT474341	hsa-miR-4472	PAR-CLIP	23592263
MIRT474339	hsa-miR-3147	PAR-CLIP	23592263
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	23592263
MIRT474337	hsa-miR-1275	PAR-CLIP	23592263
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT474335	hsa-miR-4260	PAR-CLIP	23592263
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT440232	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440232	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	26701625
MIRT036326	hsa-miR-1229-3p	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474337	hsa-miR-1275	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT474342	hsa-miR-1294	PAR-CLIP	26701625
MIRT046526	hsa-miR-15b-5p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474352	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT474339	hsa-miR-3147	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474335	hsa-miR-4260	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474340	hsa-miR-4447	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474341	hsa-miR-4472	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474359	hsa-miR-449a	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474345	hsa-miR-4525	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474347	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	26701625
MIRT474358	hsa-miR-5197-3p	PAR-CLIP	26701625
MIRT474358	hsa-miR-5197-3p	PAR-CLIP	26701625
MIRT474358	hsa-miR-5197-3p	PAR-CLIP	26701625
MIRT474358	hsa-miR-5197-3p	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474350	hsa-miR-6134	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474346	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT039045	hsa-miR-766-3p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474348	hsa-miR-8085	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	27292025
MIRT474342	hsa-miR-1294	PAR-CLIP	27292025
MIRT474352	hsa-miR-296-3p	PAR-CLIP	27292025
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	27292025
MIRT474339	hsa-miR-3147	PAR-CLIP	27292025
MIRT474335	hsa-miR-4260	PAR-CLIP	27292025
MIRT474347	hsa-miR-486-3p	PAR-CLIP	27292025
MIRT474350	hsa-miR-6134	PAR-CLIP	27292025
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	27292025
MIRT474348	hsa-miR-8085	PAR-CLIP	27292025
MIRT556670	hsa-miR-1224-5p	PAR-CLIP	20371350
MIRT556669	hsa-miR-646	PAR-CLIP	20371350
MIRT556664	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT556663	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT556662	hsa-miR-4660	PAR-CLIP	20371350
MIRT556661	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT556659	hsa-miR-3915	PAR-CLIP	20371350
MIRT556658	hsa-miR-4689	PAR-CLIP	20371350
MIRT556657	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT556656	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT556655	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT556654	hsa-miR-5047	PAR-CLIP	20371350
MIRT556653	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT556652	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT556670	hsa-miR-1224-5p	PAR-CLIP	20371350
MIRT556669	hsa-miR-646	PAR-CLIP	20371350
MIRT566999	hsa-miR-4469	PAR-CLIP	20371350
MIRT556667	hsa-miR-7113-3p	PAR-CLIP	20371350
MIRT556668	hsa-miR-4287	PAR-CLIP	20371350
MIRT556666	hsa-miR-4685-3p	PAR-CLIP	20371350
MIRT556664	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT556663	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT556662	hsa-miR-4660	PAR-CLIP	20371350
MIRT556661	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT556660	hsa-miR-6867-3p	PAR-CLIP	20371350
MIRT556659	hsa-miR-3915	PAR-CLIP	20371350
MIRT556658	hsa-miR-4689	PAR-CLIP	20371350
MIRT556657	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT556656	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT556655	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT556654	hsa-miR-5047	PAR-CLIP	20371350
MIRT556653	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT556652	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT556670	hsa-miR-1224-5p	PAR-CLIP	21572407
MIRT556669	hsa-miR-646	PAR-CLIP	21572407
MIRT556667	hsa-miR-7113-3p	PAR-CLIP	21572407
MIRT556668	hsa-miR-4287	PAR-CLIP	21572407
MIRT556666	hsa-miR-4685-3p	PAR-CLIP	21572407
MIRT556665	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT556664	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT556663	hsa-miR-3928-3p	PAR-CLIP	21572407
MIRT556662	hsa-miR-4660	PAR-CLIP	21572407
MIRT556661	hsa-miR-6828-5p	PAR-CLIP	21572407
MIRT556660	hsa-miR-6867-3p	PAR-CLIP	21572407
MIRT556659	hsa-miR-3915	PAR-CLIP	21572407
MIRT556658	hsa-miR-4689	PAR-CLIP	21572407
MIRT556657	hsa-miR-6858-5p	PAR-CLIP	21572407
MIRT556656	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT556655	hsa-miR-1301-3p	PAR-CLIP	21572407
MIRT556654	hsa-miR-5047	PAR-CLIP	21572407
MIRT556653	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT556652	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT502131	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT502130	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT502129	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT502128	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT502127	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT502126	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT502125	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT502123	hsa-miR-4500	PAR-CLIP	21572407
MIRT502124	hsa-miR-4458	PAR-CLIP	21572407
MIRT502122	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT502121	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT502120	hsa-miR-3646	PAR-CLIP	21572407
MIRT502119	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT502118	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT502113	hsa-miR-6748-5p	PAR-CLIP	21572407
MIRT502112	hsa-miR-6793-5p	PAR-CLIP	21572407
MIRT502110	hsa-miR-6741-5p	PAR-CLIP	21572407
MIRT502111	hsa-miR-6759-5p	PAR-CLIP	21572407
MIRT506772	hsa-miR-346	PAR-CLIP	23446348
MIRT506771	hsa-miR-6729-3p	PAR-CLIP	23446348
MIRT506770	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT506769	hsa-miR-1915-3p	PAR-CLIP	23446348
MIRT506768	hsa-miR-6764-5p	PAR-CLIP	23446348
MIRT506767	hsa-miR-4726-3p	PAR-CLIP	23446348
MIRT506766	hsa-miR-3127-3p	PAR-CLIP	23446348
MIRT506765	hsa-miR-6756-3p	PAR-CLIP	23446348
MIRT506764	hsa-miR-6832-3p	PAR-CLIP	23446348
MIRT506763	hsa-miR-1913	PAR-CLIP	23446348
MIRT506762	hsa-miR-324-3p	PAR-CLIP	23446348
MIRT040931	hsa-miR-18a-3p	PAR-CLIP	23446348
MIRT506761	hsa-miR-5699-5p	PAR-CLIP	23446348
MIRT506760	hsa-miR-4758-3p	PAR-CLIP	23446348
MIRT506759	hsa-miR-3189-5p	PAR-CLIP	23446348
MIRT506758	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT506757	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT506756	hsa-miR-4446-5p	PAR-CLIP	23446348
MIRT502131	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT502130	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT502129	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT502128	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT502127	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT502126	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT502125	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT502123	hsa-miR-4500	PAR-CLIP	24398324
MIRT502124	hsa-miR-4458	PAR-CLIP	24398324
MIRT502122	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT502121	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT502120	hsa-miR-3646	PAR-CLIP	24398324
MIRT502119	hsa-miR-1252-3p	PAR-CLIP	24398324
MIRT502118	hsa-miR-202-3p	PAR-CLIP	24398324
MIRT502117	hsa-miR-4706	PAR-CLIP	24398324
MIRT502116	hsa-miR-4749-5p	PAR-CLIP	24398324
MIRT037627	hsa-miR-744-5p	PAR-CLIP	24398324
MIRT502115	hsa-miR-4466	PAR-CLIP	24398324
MIRT502114	hsa-miR-675-5p	PAR-CLIP	24398324
MIRT502113	hsa-miR-6748-5p	PAR-CLIP	24398324
MIRT502112	hsa-miR-6793-5p	PAR-CLIP	24398324
MIRT502110	hsa-miR-6741-5p	PAR-CLIP	24398324
MIRT502111	hsa-miR-6759-5p	PAR-CLIP	24398324
MIRT474361	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT474360	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT025558	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT474359	hsa-miR-449a	PAR-CLIP	23592263
MIRT474358	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT474357	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT474356	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT474355	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT474354	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT474353	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT474352	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT474351	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT474350	hsa-miR-6134	PAR-CLIP	23592263
MIRT474349	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT474348	hsa-miR-8085	PAR-CLIP	23592263
MIRT474347	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT474346	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT474345	hsa-miR-4525	PAR-CLIP	23592263
MIRT474344	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT474343	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT474342	hsa-miR-1294	PAR-CLIP	23592263
MIRT474340	hsa-miR-4447	PAR-CLIP	23592263
MIRT474341	hsa-miR-4472	PAR-CLIP	23592263
MIRT474339	hsa-miR-3147	PAR-CLIP	23592263
MIRT474338	hsa-miR-1227-5p	PAR-CLIP	23592263
MIRT474337	hsa-miR-1275	PAR-CLIP	23592263
MIRT474336	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT474335	hsa-miR-4260	PAR-CLIP	23592263
MIRT474334	hsa-miR-30c-1-3p	PAR-CLIP	23592263

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16603732
GO:0001555	Process	Oocyte growth	ISS
GO:0003677	Function	DNA binding	NAS	9247308
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0005515	Function	Protein binding	IPI	15960975, 16603732, 17178841, 17500065, 22266653, 22665483, 22722839, 24981860, 26886794, 27705803, 33640491, 33961781, 37725512, 39009827
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9247308
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9247308
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	16603732
GO:0016740	Function	Transferase activity	IEA
GO:0031507	Process	Heterochromatin formation	ISS
GO:0032259	Process	Methylation	IEA
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IMP	16603732
GO:0035097	Component	Histone methyltransferase complex	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	ISS
GO:0042800	Function	Histone H3K4 methyltransferase activity	TAS
GO:0043627	Process	Response to estrogen	IDA	16603732
GO:0044666	Component	MLL3/4 complex	IBA
GO:0044666	Component	MLL3/4 complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IEA
GO:0044666	Component	MLL3/4 complex	IPI	23508102
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16603732, 35013237
GO:0046872	Function	Metal ion binding	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0140945	Function	Histone H3K4 monomethyltransferase activity	IEA
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IEA
GO:1904837	Process	Beta-catenin-TCF complex assembly	TAS

MIM	HGNC	e!Ensembl
602113	7133	ENSG00000167548

Protein

UniProt ID

O14686

Protein name

Histone-lysine N-methyltransferase 2D (Lysine N-methyltransferase 2D) (EC 2.1.1.364) (ALL1-related protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 2)

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) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylat

PDB

3UVK , 4ERQ , 4Z4P , 6O7G , 8U2Y , 9ATN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13771	zf-HC5HC2H	139 → 218		Domain
PF00628	PHD	275 → 323	PHD-finger	Domain
PF00628	PHD	1379 → 1429	PHD-finger	Domain
PF00628	PHD	1429 → 1477	PHD-finger	Domain
PF13832	zf-HC5HC2H_2	5030 → 5144		Domain
PF05964	FYRN	5181 → 5232	F/Y-rich N-terminus	Family
PF05965	FYRC	5238 → 5322	F/Y rich C-terminus	Family
PF00856	SET	5408 → 5513	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.

Sequence

MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSG
GPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGF
PEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGA
SIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCD
LFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHT
FCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRS
VAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLG
KAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLP
EALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPP
EASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLF
PPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVS
RLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPL
EESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLC
AVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEP
CLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPAL
SEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYP
FGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPL
PPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSE
PECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQT
PGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLI
KSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLC
TDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHG
GRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMC
VVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPS
RLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGP
CASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYV
VKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGL
PGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEE
TEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGA
VEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFG
LGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDP
EKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTP
LQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTT
PSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSS
RCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRP
ALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELF
LKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGA
GQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGE
SRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEP
QSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPP
RSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSR
DPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVR
SPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNY
TVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITS
PVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTL
RQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPI
LGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQ
QQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIEL
RHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAP
ELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAH
KALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTG
DKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKP
KVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTA
EKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSL
VASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHE
GSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQ
HGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDI
IDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQ
ERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRK
ALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQ
QQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPG
GMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQ
LQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPS
SHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQL
AQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQL
QQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQ
QQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLL
LTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQP
QPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVS
LGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQ
LQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQ
PQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRP
SQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPP
DNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPI
GAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQ
KLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELS
LLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPP
TPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAAL
PTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPV
IPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVM
VAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQF
DAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSP
LAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLK
KWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGD
GATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGA
TSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERD
EVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLR
TNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADM
LRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCAR
SEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVY
LARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHV
IDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQ
HKIPCHCGAWNCRKWMN

Sequence length

5537

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Cushing syndrome		Formation of the beta-catenin:TCF transactivating complex PKMTs methylate histone lysines Deactivation of the beta-catenin transactivating complex RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Show/Hide Causal Diseases (10)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Kabuki Syndrome	Kabuki syndrome 1, kabuki syndrome	rs1555197738, rs1938072820, rs587783688, rs1555198491, rs1555192218, rs1592110749, rs267607239, rs886043497, rs1555187741, rs793888514, rs1251778848, rs1555188687, rs794727688, rs1592129138, rs1350605713 View all (300 more)	N/A
Mental retardation	intellectual disability	rs1452715535	N/A
Microcephaly	microcephaly	rs1943461045	N/A
autism	Autism	rs1555187899	N/A
Autism Spectrum Disorder	autism spectrum disorder due to auts2 deficiency	rs1565819425	N/A
Complement Component Deficiency	complement component c1s deficiency	rs1565789104	N/A
lung cancer	Lung cancer	rs770315135	N/A
Lymphoma	lymphoma	rs1592119138, rs1592123162	N/A
Multiple myeloma	multiple myeloma	rs1057517992	N/A
neoplasm	Neoplasm	rs886041779, rs1057517992, rs886040960, rs587783690, rs587783697	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Astrocytoma	astrocytoma	N/A	N/A	ClinVar
Bipolar Disorder	Bipolar disorder	N/A	N/A	GWAS
Choanal Atresia	choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (176)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	37921229
Abnormalities Multiple	Associate	31949313
Adenocarcinoma	Associate	34128342
Adenocarcinoma Clear Cell	Associate	37697729
Adenocarcinoma Mucinous	Associate	32641744
Adenocarcinoma of Lung	Associate	33219256
adult multisystem inflammatory disease COVID 19 related	Associate	37588055
Agammaglobulinemia	Associate	26194542
Amastia	Associate	31949313, 32083401
Ameloblastoma	Associate	33395399
Androgen Insensitivity Syndrome	Associate	34867780
Aneuploidy	Associate	36478645
Ataxia Telangiectasia	Associate	27203213
Autoimmune Diseases	Associate	31363182
Axenfeld Rieger syndrome	Associate	36672956
Basan syndrome	Associate	37921229
Bowen syndrome	Associate	31949313
Brain Neoplasms	Associate	30737471
Breast Neoplasms	Associate	28486103, 30943409, 30990809, 32934021, 36970726, 37223020
Burkitt Lymphoma	Associate	28801451
Carcinogenesis	Associate	36701842
Carcinoma Adenosquamous	Associate	31958074, 37650999
Carcinoma Basal Cell	Associate	33928395
Carcinoma Hepatocellular	Associate	31560893
Carcinoma Merkel Cell	Associate	32878339
Carcinoma Non Small Cell Lung	Associate	25112956, 33655698, 36282125, 37924135
Carcinoma Non Small Cell Lung	Inhibit	36701842
Carcinoma Pancreatic Ductal	Associate	30970447, 38015024
Carcinoma Renal Cell	Associate	23644518, 34949764
Carcinoma Small Cell	Associate	27873319, 28007623
Carcinoma Squamous Cell	Associate	24323028, 27906449, 33219256, 38150257, 39694330
CHARGE Syndrome	Associate	28475860, 34369642
Choanal Atresia	Associate	31949313, 32083401
Cholangiocarcinoma	Associate	38281914
Chronobiology Disorders	Associate	30401751
Cicatrix	Associate	33402515
Cochlear Diseases	Associate	37921229
Coloboma	Associate	36672956
Colonic Neoplasms	Associate	29955144, 39984049
Colorectal Neoplasms	Associate	24240169, 30018131, 39984049
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	38022513
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35040536
Congenital Hyperinsulinism	Associate	32830475, 32948218, 34927408
Dandy Walker variant	Associate	33008324
Deafness Conductive with Malformed External Ear	Associate	31949313
Death	Associate	31537689
Developmental Disabilities	Associate	22287508, 31282990
Drug Resistant Epilepsy	Associate	32589730, 36606708
Dwarfism Pituitary	Associate	29914387
Eccrine Porocarcinoma	Associate	34045664
Endocrine System Diseases	Associate	29914387
Endometrial Neoplasms	Associate	35108035, 36958196
Enteropathy Associated T Cell Lymphoma	Associate	33579790
Ependymoma	Associate	26341229
Epilepsy	Associate	32830475
Epstein Barr Virus Infections	Associate	31311407
Esophageal Squamous Cell Carcinoma	Associate	27749841, 29866946, 33826001
Eye Diseases	Associate	36672956
Facial Dysmorphism with Multiple Malformations	Associate	38115267
Facies	Associate	35384273
Familial cylindromatosis	Associate	33826001
Fetal Alcohol Spectrum Disorders	Associate	39239799
Fibrosis	Associate	33402515
GATA2 Deficiency	Associate	31311407
Genetic Diseases Inborn	Associate	34369642, 38115267
Gestational Trophoblastic Disease	Associate	31998776
Gilbert Disease	Associate	29914387
Granulosa Cell Tumor	Associate	33428330
Granulosa cell tumor of the ovary	Associate	29950560
Growth Disorders	Associate	31160375, 32083401, 37921229
Hearing Loss	Associate	31949313
Hearing Loss Sensorineural	Associate	37921229
Heart Defects Congenital	Associate	29417219, 36478645, 37165897
Heart Diseases	Associate	32037394
Hematologic Neoplasms	Associate	34570179
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31774495, 35937947
Histiocytic Sarcoma	Associate	28805986
Holoprosencephaly	Associate	31282990
Hydroa Vacciniforme	Associate	32682634
Hypertension Pulmonary	Associate	39542781
Hypoglycemia	Associate	33008324, 38115267
Hypoparathyroidism	Associate	32083401
Hypoplastic Left Heart Syndrome	Associate	31633846, 35384273
Hypothyroidism	Associate	29914387
Hypoxia	Associate	34642392
IgA Deficiency	Associate	26194542
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	33864888
Intellectual Disability	Associate	37921229
Kabuki syndrome	Associate	24240169, 24633898, 24680668, 26194542, 26341229, 27573763, 28295206, 28475860, 28933623, 29255178, 29283410, 29536651, 29725259, 29907798, 29914387 View all (35 more)
Kidney Calculi	Associate	35612621
Klippel Feil Syndrome	Associate	32278351
Language Disorders	Associate	28440294
Leukemia	Associate	32164600
Leukemia Biphenotypic Acute	Associate	36325357
Leukemia Large Granular Lymphocytic	Associate	31311407, 35015834, 37142644
Lung Diseases Interstitial	Associate	32083401
Lung Neoplasms	Associate	27873319, 33200540, 34791810, 36701842, 38163953
Lymphoma	Associate	22287508, 24240169, 28801451, 30227305, 31378966, 33581493, 34325497
Lymphoma B Cell	Associate	27566587, 32973328, 33945543, 34553842, 35522148
Lymphoma B Cell Marginal Zone	Associate	24349473, 27335277, 27566587, 28152507, 32871937, 36995085, 39313500
Lymphoma Follicular	Associate	24362818, 27257180, 27750045, 28805986, 30126979, 31776129, 32929178, 33211828, 33945543, 34601504, 34957565, 35363872, 35816682, 36240289, 36994552, 39191762 View all (1 more)
Lymphoma Large B Cell Diffuse	Associate	25123191, 32469082, 33479306, 33945543, 34350060, 34558064, 34980601, 36240289, 36811800, 38442902, 39273276
Lymphoma Mantle Cell	Associate	24145436, 31537689, 32770099, 34080947, 35266562, 37605345
Lymphoma Non Hodgkin	Associate	39849652
Lymphoma T Cell	Associate	33152759
Lymphoma T Cell Cutaneous	Associate	26551667
Lymphoma T Cell Peripheral	Associate	35240014
Lymphoproliferative Disorders	Associate	34558064, 37705050
Macular Degeneration	Associate	38206414
Medulloblastoma	Associate	21163964, 24240169, 26290144
Melanoma	Associate	25393105, 37831226
Meningioma	Associate	26240495, 35440040
Microphthalmos	Associate	36672956
Mullerian aplasia	Associate	35361250
Multiple Endocrine Neoplasia Type 2a	Associate	35676000
Multiple Myeloma	Associate	30809292, 35870987
Nasopharyngeal Carcinoma	Associate	35562651
Neoplasm Metastasis	Associate	28608921, 35411083, 36701842, 37232011
Neoplasm Metastasis	Stimulate	31232159
Neoplasms	Associate	24240169, 25056374, 25393105, 26032282, 26092435, 26657142, 28801451, 28824725, 29950560, 30176882, 30508944, 30970447, 30984543, 31199602, 31232159 View all (19 more)
Neoplasms	Inhibit	25112956, 27749841, 32878339, 33402515, 37650999, 38219954, 39984049
Neoplasms Squamous Cell	Associate	30316684, 34642392
Neoplasms Unknown Primary	Associate	34302033
Nephrocalcinosis	Associate	35612621
Neurologic Manifestations	Associate	32830475
Non Muscle Invasive Bladder Neoplasms	Associate	32449441, 35073341, 36674608, 39817975
Obesity	Associate	29914387
Oral Submucous Fibrosis	Associate	38050610
Oropharyngeal Neoplasms	Associate	30185662
Otitis Media with Effusion	Associate	37921229
Ovarian Neoplasms	Associate	27875625, 32139151
Pain	Associate	26341229
Pancreatic Neoplasms	Associate	26154128, 38015024
Papilloma	Associate	25056374
Papillomavirus Infections	Associate	37461056
Paraproteinemias	Associate	28983055
Parathyroid Neoplasms	Associate	36611251
Peters anomaly	Associate	36672956
Pheochromocytoma	Associate	26032282
Phyllodes Tumor of the Prostate	Associate	27255162
Platyspondylic Lethal Skeletal Dysplasia Torrance Type	Associate	31311407
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	31776129
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	25355294, 27750045, 30028819, 34553842, 38385617
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	33436855
Prostatic Intraepithelial Neoplasia	Associate	26542946
Prostatic Neoplasms	Associate	22722839, 26542946, 31134918, 31232159, 32651179, 35347810, 36924677
Prostatic Neoplasms Castration Resistant	Associate	22722839, 23917376
Pulmonary Atresia	Associate	35384273
Purpura Thrombocytopenic Idiopathic	Associate	33518579, 37620992
Respiratory Tract Infections	Stimulate	33588785
Respiratory Tract Infections	Associate	37640571
Rubinstein Taybi Syndrome	Associate	30806792
Sclerocornea	Associate	36672956
Segmentation syndrome 1	Associate	32278351
Sezary Syndrome	Associate	26551667
Small Cell Lung Carcinoma	Associate	24978188, 28007623, 31199602, 33880365, 35596192
Smoke Inhalation Injury	Associate	28824725
Spasms Infantile	Associate	29667327
Squamous Cell Carcinoma of Head and Neck	Associate	30046007, 30933315, 32892208, 34563788, 37373553
Stenosis Pulmonary Vein	Associate	35384273
Stomach Neoplasms	Associate	24240169, 25882375, 32641744, 33402515, 33511732, 37395342, 38050871, 40149431
Thymic epithelial tumor	Associate	29736783
Thyroid Cancer Papillary	Stimulate	36722273
Thyroid Diseases	Associate	31949313
Tooth Diseases	Associate	29725259
Triple Negative Breast Neoplasms	Associate	25056374, 30990809, 37391754
Turcot syndrome	Associate	38022513
Unilateral Breast Neoplasms	Associate	31848314
Urethral Neoplasms	Inhibit	38219954
Urinary Bladder Neoplasms	Associate	30984543, 32239176, 33588785, 36674608
Urologic Neoplasms	Associate	38555943
Uterine Cervical Dysplasia	Associate	30567904
Uterine Cervical Neoplasms	Associate	30567904, 32718341, 35205332, 36333792, 37643132
Ventricular Outflow Obstruction	Associate	36478645
Vitamin D Deficiency	Associate	36323669
Waldenstrom Macroglobulinemia	Associate	36325357

KMT2D (lysine methyltransferase 2D)