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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	58508
Gene name	Lysine methyltransferase 2C
Gene symbol	KMT2C
Synonyms (NCBI Gene)	HALRKLEFS2MLL3
Chromosome	7
Chromosome location	7q36.1
Summary	This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777073	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs747256476	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779659766	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs886041682	->ACTAC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1003155450	A>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057518093	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057522023	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1064793759	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1064795761	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1064796813	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1485613651	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554477105	CTTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554496279	->CGTC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554496813	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554501612	GT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554505381	G>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554580083	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1563639759	AAGATAGCATTAAT>-	Pathogenic	Genic upstream transcript variant, intron variant
rs1563831738	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1587896236	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1587941402	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1587953116	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1588119681	AAATATCAG>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant, non coding transcript variant
rs1588343792	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1588571802	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1588573059	GT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016990	hsa-miR-335-5p	Microarray	18185580
MIRT021900	hsa-miR-128-3p	Microarray	17612493
MIRT028951	hsa-miR-26b-5p	Sequencing	20371350
MIRT048165	hsa-miR-196a-5p	CLASH	23622248
MIRT046443	hsa-miR-15b-5p	CLASH	23622248
MIRT045225	hsa-miR-186-5p	CLASH	23622248
MIRT044506	hsa-miR-320a	CLASH	23622248
MIRT041865	hsa-miR-484	CLASH	23622248
MIRT041865	hsa-miR-484	CLASH	23622248
MIRT040134	hsa-miR-615-3p	CLASH	23622248
MIRT039471	hsa-miR-652-3p	CLASH	23622248
MIRT038581	hsa-miR-106b-3p	CLASH	23622248
MIRT037748	hsa-miR-708-5p	CLASH	23622248
MIRT036615	hsa-miR-940	CLASH	23622248
MIRT536432	hsa-miR-6746-3p	PAR-CLIP	22012620
MIRT239677	hsa-miR-610	PAR-CLIP	22012620
MIRT536431	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT536430	hsa-miR-4663	PAR-CLIP	22012620
MIRT536429	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT727183	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727182	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT736042	hsa-miR-130b-3p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCRIn situ hybridizationImmunocytochemistry (ICC)	32660626
MIRT536432	hsa-miR-6746-3p	PAR-CLIP	22012620
MIRT239677	hsa-miR-610	PAR-CLIP	22012620
MIRT536431	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT536430	hsa-miR-4663	PAR-CLIP	22012620
MIRT536429	hsa-miR-93-3p	PAR-CLIP	22012620

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	12482968, 17021013, 17500065, 19047629, 19433796, 22266653, 22665483, 23870121, 24981860, 26886794, 27705803, 37725512
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0035097	Component	Histone methyltransferase complex	IDA	17500065
GO:0042054	Function	Histone methyltransferase activity	IDA	22266653
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IDA	17500065
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
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:0046872	Function	Metal ion binding	IEA
GO:0140945	Function	Histone H3K4 monomethyltransferase activity	IEA
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IEA

MIM	HGNC	e!Ensembl
606833	13726	ENSG00000055609

Q8NEZ4

Protein name

Histone-lysine N-methyltransferase 2C (Lysine N-methyltransferase 2C) (EC 2.1.1.364) (Homologous to ALR protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 3)

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

2YSM , 2YUK , 3UVL , 4ERY , 5F59 , 5F6K , 6KIW , 6MLC , 7W6L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13771	zf-HC5HC2H	252 → 331		Domain
PF00628	PHD	388 → 438	PHD-finger	Domain
PF00628	PHD	959 → 1010	PHD-finger	Domain
PF00628	PHD	1009 → 1057	PHD-finger	Domain
PF13832	zf-HC5HC2H_2	4400 → 4510		Domain
PF05964	FYRN	4551 → 4602	F/Y-rich N-terminus	Family
PF05965	FYRC	4608 → 4692	F/Y rich C-terminus	Family
PF00856	SET	4782 → 4887	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substant

Sequence

MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGK
TAVEDEDSMDGLETTETETIVETEIKEQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSL
VSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDNSNGT
YEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQ
ALFDSTGTCWAHHRCVEWSLGVCQMEEPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEE
KCTQMYHYPCAAGAGTFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQFFCT
TCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKQSGEDSKMLVCDTCDKGYHTFCLQP
VMKSVPTNGWKCKNCRICIECGTRSSSQWHHNCLICDNCYQQQDNLCPFCGKCYHPELQK
DMLHCNMCKRWVHLECDKPTDHELDTQLKEEYICMYCKHLGAEMDRLQPGEEVEIAELTT
DYNNEMEVEGPEDQMVFSEQAANKDVNGQESTPGIVPDAVQVHTEEQQKSHPSESLDTDS
LLIAVSSQHTVNTELEKQISNEVDSEDLKMSSEVKHICGEDQIEDKMEVTENIEVVTHQI
TVQQEQLQLLEEPETVVSREESRPPKLVMESVTLPLETLVSPHEESISLCPEEQLVIERL
QGEKEQKENSELSTGLMDSEMTPTIEGCVKDVSYQGGKSIKLSSETESSFSSSADISKAD
VSSSPTPSSDLPSHDMLHNYPSALSSSAGNIMPTTYISVTPKIGMGKPAITKRKFSPGRP
RSKQGAWSTHNTVSPPSWSPDISEGREIFKPRQLPGSAIWSIKVGRGSGFPGKRRPRGAG
LSGRGGRGRSKLKSGIGAVVLPGVSTADISSNKDDEENSMHNTVVLFSSSDKFTLNQDMC
VVCGSFGQGAEGRLLACSQCGQCYHPYCVSIKITKVVLSKGWRCLECTVCEACGKATDPG
RLLLCDDCDISYHTYCLDPPLQTVPKGGWKCKWCVWCRHCGATSAGLRCEWQNNYTQCAP
CASLSSCPVCYRNYREEDLILQCRQCDRWMHAVCQNLNTEEEVENVADIGFDCSMCRPYM
PASNVPSSDCCESSLVAQIVTKVKELDPPKTYTQDGVCLTESGMTQLQSLTVTVPRRKRS
KPKLKLKIINQNSVAVLQTPPDIQSEHSRDGEMDDSREGELMDCDGKSESSPEREAVDDE
TKGVEGTDGVKKRKRKPYRPGIGGFMVRQRSRTGQGKTKRSVIRKDSSGSISEQLPCRDD
GWSEQLPDTLVDESVSVTESTEKIKKRYRKRKNKLEETFPAYLQEAFFGKDLLDTSRQSK
ISLDNLSEDGAQLLYKTNMNTGFLDPSLDPLLSSSSAPTKSGTHGPADDPLADISEVLNT
DDDILGIISDDLAKSVDHSDIGPVTDDPSSLPQPNVNQSSRPLSEEQLDGILSPELDKMV
TDGAILGKLYKIPELGGKDVEDLFTAVLSPANTQPTPLPQPPPPTQLLPIHNQDAFSRMP
LMNGLIGSSPHLPHNSLPPGSGLGTFSAIAQSSYPDARDKNSAFNPMASDPNNSWTSSAP
TVEGENDTMSNAQRSTLKWEKEEALGEMATVAPVLYTNINFPNLKEEFPDWTTRVKQIAK
LWRKASSQERAPYVQKARDNRAALRINKVQMSNDSMKRQQQQDSIDPSSRIDSELFKDPL
KQRESEHEQEWKFRQQMRQKSKQQAKIEATQKLEQVKNEQQQQQQQQFGSQHLLVQSGSD
TPSSGIQSPLTPQPGNGNMSPAQSFHKELFTKQPPSTPTSTSSDDVFVKPQAPPPPPAPS
RIPIQDSLSQAQTSQPPSPQVFSPGSSNSRPPSPMDPYAKMVGTPRPPPVGHSFSRRNSA
APVENCTPLSSVSRPLQMNETTANRPSPVRDLCSSSTTNNDPYAKPPDTPRPVMTDQFPK
SLGLSRSPVVSEQTAKGPIAAGTSDHFTKPSPRADVFQRQRIPDSYARPLLTPAPLDSGP
GPFKTPMQPPPSSQDPYGSVSQASRRLSVDPYERPALTPRPIDNFSHNQSNDPYSQPPLT
PHPAVNESFAHPSRAFSQPGTISRPTSQDPYSQPPGTPRPVVDSYSQSSGTARSNTDPYS
QPPGTPRPTTVDPYSQQPQTPRPSTQTDLFVTPVTNQRHSDPYAHPPGTPRPGISVPYSQ
PPATPRPRISEGFTRSSMTRPVLMPNQDPFLQAAQNRGPALPGPLVRPPDTCSQTPRPPG
PGLSDTFSRVSPSAARDPYDQSPMTPRSQSDSFGTSQTAHDVADQPRPGSEGSFCASSNS
PMHSQGQQFSGVSQLPGPVPTSGVTDTQNTVNMAQADTEKLRQRQKLREIILQQQQQKKI
AGRQEKGSQDSPAVPHPGPLQHWQPENVNQAFTRPPPPYPGNIRSPVAPPLGPRYAVFPK
DQRGPYPPDVASMGMRPHGFRFGFPGGSHGTMPSQERFLVPPQQIQGSGVSPQLRRSVSV
DMPRPLNNSQMNNPVGLPQHFSPQSLPVQQHNILGQAYIELRHRAPDGRQRLPFSAPPGS
VVEASSNLRHGNFIPRPDFPGPRHTDPMRRPPQGLPNQLPVHPDLEQVPPSQQEQGHSVH
SSSMVMRTLNHPLGGEFSEAPLSTSVPSETTSDNLQITTQPSDGLEEKLDSDDPSVKELD
VKDLEGVEVKDLDDEDLENLNLDTEDGKVVELDTLDNLETNDPNLDDLLRSGEFDIIAYT
DPELDMGDKKSMFNEELDLPIDDKLDNQCVSVEPKKKEQENKTLVLSDKHSPQKKSTVTN
EVKTEVLSPNSKVESKCETEKNDENKDNVDTPCSQASAHSDLNDGEKTSLHPCDPDLFEK
RTNRETAGPSANVIQASTQLPAQDVINSCGITGSTPVLSSLLANEKSDNSDIRPSGSPPP
PTLPASPSNHVSSLPPFIAPPGRVLDNAMNSNVTVVSRVNHVFSQGVQVNPGLIPGQSTV
NHSLGTGKPATQTGPQTSQSGTSSMSGPQQLMIPQTLAQQNRERPLLLEEQPLLLQDLLD
QERQEQQQQRQMQAMIRQRSEPFFPNIDFDAITDPIMKAKMVALKGINKVMAQNNLGMPP
MVMSRFPFMGQVVTGTQNSEGQNLGPQAIPQDGSITHQISRPNPPNFGPGFVNDSQRKQY
EEWLQETQQLLQMQQKYLEEQIGAHRKSKKALSAKQRTAKKAGREFPEEDAEQLKHVTEQ
QSMVQKQLEQIRKQQKEHAELIEDYRIKQQQQCAMAPPTMMPSVQPQPPLIPGATPPTMS
QPTFPMVPQQLQHQQHTTVISGHTSPVRMPSLPGWQPNSAPAHLPLNPPRIQPPIAQLPI
KTCTPAPGTVSNANPQSGPPPRVEFDDNNPFSESFQERERKERLREQQERQRIQLMQEVD
RQRALQQRMEMEQHGMVGSEISSSRTSVSQIPFYSSDLPCDFMQPLGPLQQSPQHQQQMG
QVLQQQNIQQGSINSPSTQTFMQTNERRQVGPPSFVPDSPSIPVGSPNFSSVKQGHGNLS
GTSFQQSPVRPSFTPALPAAPPVANSSLPCGQDSTITHGHSYPGSTQSLIQLYSDIIPEE
KGKKKRTRKKKRDDDAESTKAPSTPHSDITAPPTPGISETTSTPAVSTPSELPQQADQES
VEPVGPSTPNMAAGQLCTELENKLPNSDFSQATPNQQTYANSEVDKLSMETPAKTEEIKL
EKAETESCPGQEEPKLEEQNGSKVEGNAVACPVSSAQSPPHSAGAPAAKGDSGNELLKHL
LKNKKSSSLLNQKPEGSICSEDDCTKDNKLVEKQNPAEGLQTLGAQMQGGFGCGNQLPKT
DGGSETKKQRSKRTQRTGEKAAPRSKKRKKDEEEKQAMYSSTDTFTHLKQQNNLSNPPTP
PASLPPTPPPMACQKMANGFATTEELAGKAGVLVSHEVTKTLGPKPFQLPFRPQDDLLAR
ALAQGPKTVDVPASLPTPPHNNQEELRIQDHCGDRDTPDSFVPSSSPESVVGVEVSRYPD
LSLVKEEPPEPVPSPIIPILPSTAGKSSESRRNDIKTEPGTLYFASPFGPSPNGPRSGLI
SVAITLHPTAAENISSVVAAFSDLLHVRIPNSYEVSSAPDVPSMGLVSSHRINPGLEYRQ
HLLLRGPPPGSANPPRLVSSYRLKQPNVPFPPTSNGLSGYKDSSHGIAESAALRPQWCCH
CKVVILGSGVRKSFKDLTLLNKDSRESTKRVEKDIVFCSNNCFILYSSTAQAKNSENKES
IPSLPQSPMRETPSKAFHQYSNNISTLDVHCLPQLPEKASPPASPPIAFPPAFEAAQVEA
KPDELKVTVKLKPRLRAVHGGFEDCRPLNKKWRGMKWKKWSIHIVIPKGTFKPPCEDEID
EFLKKLGTSLKPDPVPKDYRKCCFCHEEGDGLTDGPARLLNLDLDLWVHLNCALWSTEVY
ETQAGALINVELALRRGLQMKCVFCHKTGATSGCHRFRCTNIYHFTCAIKAQCMFFKDKT
MLCPMHKPKGIHEQELSYFAVFRRVYVQRDEVRQIASIVQRGERDHTFRVGSLIFHTIGQ
LLPQQMQAFHSPKALFPVGYEASRLYWSTRYANRRCRYLCSIEEKDGRPVFVIRIVEQGH
EDLVLSDISPKGVWDKILEPVACVRKKSEMLQLFPAYLKGEDLFGLTVSAVARIAESLPG
VEACENYTFRYGRNPLMELPLAVNPTGCARSEPKMSAHVKRFVLRPHTLNSTSTSKSFQS
TVTGELNAPYSKQFVHSKSSQYRKMKTEWKSNVYLARSRIQGLGLYAARDIEKHTMVIEY
IGTIIRNEVANRKEKLYESQNRGVYMFRMDNDHVIDATLTGGPARYINHSCAPNCVAEVV
TFERGHKIIISSSRRIQKGEELCYDYKFDFEDDQHKIPCHCGAVNCRKWMN

Sequence length

4911

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

576

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs2093231242	RCV003127742
Intellectual disability	Pathogenic	rs1563831738	RCV000680024
Kleefstra syndrome 1	Pathogenic	rs2093235396	RCV001335515
Kleefstra syndrome 2	Pathogenic; Likely pathogenic	rs2093235396, rs2129115127, rs2129119362, rs2129099779, rs2129145649, rs2129119384, rs2129128809, rs2129145634, rs2129163740, rs2129121010, rs2129119641, rs2485738685, rs2487614684, rs2487796038, rs2485846446 View all (31 more)	RCV004557543 RCV004789556 RCV001730174 RCV001775387 RCV001782352 RCV001807986 RCV001814757 RCV002226822 RCV002250082 RCV002273263 RCV002283989 RCV002288359 RCV002290363 RCV002293286 RCV003228066 RCV002465384 RCV002470546 RCV002510551 RCV002814354 RCV003128009 RCV003146840 RCV003149140 RCV003152885 RCV003314075 RCV003314517 RCV006449285 RCV005622229 RCV003333632 RCV003388246 RCV003885420 RCV003992065 RCV004545935 RCV004566629 RCV000515476 RCV000515489 RCV000515504 RCV000515483 RCV000677119 RCV000786928 RCV000995575 RCV002286427 RCV000074464 RCV001251813 RCV003989661 RCV001262648 RCV003323837
Kleefstra syndrome due to a point mutation	Pathogenic	rs1588343792	RCV000826194
KMT2C-related disorder	Likely pathogenic; Pathogenic	rs2487894291, rs2129092780, rs749571160, rs1587953116	RCV004528635 RCV004529254 RCV004736443 RCV004545811
KMT2C-related NDD	Pathogenic; Likely pathogenic	rs2093235396, rs2487689029, rs1057518093, rs1554505381, rs779659766, rs1554580083, rs1554477105, rs1554593120, rs747256476, rs1563639759, rs1588343792, rs587777073, rs2093221854	RCV004731129 RCV004731274 RCV004730941 RCV004730968 RCV004730969 RCV004730970 RCV004730971 RCV004730974 RCV004730992 RCV004731032 RCV004731043 RCV004730871 RCV004731111
Medulloblastoma WNT activated	Pathogenic	rs938655561	RCV006254302
Multiple myeloma	Likely pathogenic	rs1587941402, rs1003155450	RCV000984093 RCV000984115
Neoplasm	Pathogenic	rs1563288201, rs2096675479	RCV006274253 RCV006274463
Neurodevelopmental abnormality	Pathogenic	rs2093231242	RCV001264710
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2129119932, rs2129101553	RCV002274352 RCV002274402
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2129115127	RCV001374924
Rare genetic intellectual disability	Pathogenic	rs2093221854	RCV001257012
Tip-toe gait	Likely pathogenic	rs778602278, rs2485789680	RCV002226410 RCV003320004

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs73728767, rs77652527, rs199917150, rs28418446, rs187902675, rs73161892	RCV005923113 RCV005889559 RCV005928083 RCV005921372 RCV005927969 RCV005909956
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs73161892	RCV005909958
atypical cerebral palsy	Conflicting classifications of pathogenicity	rs138845109	RCV000655963
Autism, susceptiblity to	Conflicting classifications of pathogenicity	rs111493987	RCV003313004
Cerebellar atrophy	Conflicting classifications of pathogenicity	rs58528565	RCV000856681
Cervical cancer	Likely benign; Benign	rs753376408, rs537579296, rs79605387, rs201363439	RCV005912678 RCV005889569 RCV005921184 RCV005928198
Cholangiocarcinoma	Benign; Likely benign	rs73728767, rs200662726, rs17173370	RCV005923115 RCV005927559 RCV005911677
Clear cell carcinoma of kidney	Benign	rs149373512, rs17173370	RCV005889563 RCV005911674
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs878978808, rs73161892	RCV005926015 RCV005909955
Colorectal cancer	Benign; Likely benign	rs149373512, rs73161892	RCV005889564 RCV005909959
Developmental and epileptic encephalopathy 92	Uncertain significance	rs1179763290	RCV002290359
Familial cancer of breast	Benign; Likely benign; -	rs73728767, rs537579296, rs73728782, rs770119347, rs187902675, rs201363439, rs2487956609	RCV005923112 RCV005889568 RCV005921420 RCV005925959 RCV005927968 RCV005928197 RCV005932022
Familial pancreatic carcinoma	Benign	rs79605387	RCV005921185
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs149373512, rs878978808, rs79605387, rs201363439	RCV005889565 RCV005926017 RCV005921186 RCV005928199
Global developmental delay	Conflicting classifications of pathogenicity	rs58528565	RCV000856681
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs77652527, rs147957197, rs79605387, rs28522267, rs17173370	RCV005889560 RCV005926294 RCV005921182 RCV005898288 RCV005911672
Lung cancer	Benign; Likely benign	rs73161892	RCV005909961
Lymphoma	Benign; Likely benign	rs187902675	RCV005927972
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	rs149373512, rs73728782, rs79605387, rs187902675, rs753255221, rs73161892	RCV005889562 RCV005921421 RCV005921183 RCV005927970 RCV005927063 RCV005909957
Malignant tumor of urinary bladder	-	rs2129106555	RCV005920692
Melanoma	Uncertain significance	rs2487631654	RCV005927558
Microcephaly	Benign; Likely benign; Uncertain significance	rs141106704, rs1272370838, rs747943626	RCV001252919 RCV001252911 RCV001252819
Nonpapillary renal cell carcinoma	Benign	rs17173370	RCV005911673
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs149373512, rs878978808, rs79605387, rs1465945340, rs17173370	RCV005889566 RCV005926018 RCV005921187 RCV005921215 RCV005911676
Papillary renal cell carcinoma type 1	-	rs2092034542	RCV005930031
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs878978808, rs187902675, rs199796552, rs17173370	RCV005926016 RCV005927971 RCV005931465 RCV005911675
See cases	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs373510851, rs772433974, rs1256350350, rs984841454, rs1488391618, rs754015217, rs2487684486	RCV004584438 RCV002287525 RCV004584475 RCV002252883 RCV002252967 RCV002252500 RCV003128508
Syndromic intellectual disability	Uncertain significance; Benign; Likely benign	rs2129104632, rs73161892	RCV003994689 RCV003994178
Thymoma	Benign; Likely benign	rs73728767, rs73728782, rs187902675, rs73161892	RCV005923114 RCV005921422 RCV005927973 RCV005909960
Thyroid cancer, nonmedullary, 1	Benign	rs77652527, rs149373512	RCV005889561 RCV005889567
Uterine corpus endometrial carcinoma	Benign	rs770119347	RCV005925960

Show/Hide Text Mining Associations (128)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	26655088
Adenocarcinoma	Associate	37914089
Adenocarcinoma of Lung	Associate	30821106
Adenosarcoma of the uterus	Associate	26592504
Anodontia	Associate	36601880
Anorexia	Associate	35945529
Aortic Dissection	Associate	37226099
Ataxia Telangiectasia	Associate	27203213
Autism Spectrum Disorder	Associate	27632392, 34356069
Axenfeld Rieger syndrome	Associate	36672956
Bone Diseases	Associate	25303977
Brain Neoplasms	Associate	31483290
Breast Neoplasms	Associate	21116761, 22722193, 27195705, 27926873, 27986439, 28569218, 29807833, 30649385, 31146111, 32811538, 33407744, 34408553, 34581028, 34888385, 35589867 View all (5 more)
Breast Neoplasms	Stimulate	31897900
Calcinosis Cutis	Associate	32811538
Carcinogenesis	Associate	23991983, 26880370, 31381885, 32188867
Carcinoid Tumor	Associate	31300474
Carcinoma Adenoid Cystic	Associate	27491809
Carcinoma Basal Cell	Associate	33928395
Carcinoma Hepatocellular	Associate	33355042, 33726759, 34299031, 35602894, 36899918
Carcinoma Intraductal Noninfiltrating	Associate	26249178, 38523186
Carcinoma Merkel Cell	Associate	25531179
Carcinoma Mucoepidermoid	Associate	33832503
Carcinoma Neuroendocrine	Associate	34245124
Carcinoma Non Small Cell Lung	Associate	32606052, 33159839, 33629637, 33655698
Carcinoma Pancreatic Ductal	Associate	24293293, 30970447
Carcinoma Renal Cell	Associate	27713405, 30622286, 31098421, 31381885
Carcinoma Squamous Cell	Associate	25303977, 34398873, 36333792, 37908048
Carcinoma Transitional Cell	Associate	21822268
Carcinosarcoma	Associate	27009459
Cholangiocarcinoma	Associate	38113975
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	21163964
Chronobiology Disorders	Associate	30401751
Colitis Ulcerative	Associate	28524162
Coloboma	Associate	36672956
Colorectal Neoplasms	Associate	20126641, 21853109, 22014273, 27023146, 27260798, 27405564, 30018131, 32471474, 36601880, 38492821
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	38022513
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	22722193
Dermatofibrosarcoma	Associate	35441365
Desmoplastic Small Round Cell Tumor	Associate	32393201
Developmental Disabilities	Associate	29061174, 29276005, 38453051
Diabetes Gestational	Associate	34850017
Epidermolysis bullosa with pyloric atresia	Associate	31381885
Esophageal Squamous Cell Carcinoma	Associate	25273170, 33725708, 37705061
Exostoses	Associate	34582124
Eye Diseases	Associate	36672956
Failure of Tooth Eruption Primary	Associate	31712638
Gallbladder Neoplasms	Associate	33328484, 33813726
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
GATA2 Deficiency	Associate	35504960
Glioblastoma	Associate	26496030
Glioma	Associate	29272522
Growth Disorders	Associate	34850017
Head and Neck Neoplasms	Associate	31159745, 34635145, 37914089
Hematologic Diseases	Associate	35409657
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31774495, 35893033
Hereditary leiomyomatosis and renal cell cancer	Associate	32191807
Immune System Diseases	Associate	36250618
Inflammation	Associate	37914089
Kleefstra Syndrome	Associate	32366967
Laron Syndrome	Associate	34850017
Laryngeal Neoplasms	Associate	26818916
Leukemia	Associate	22234698, 24301523
Leukemia Hairy Cell	Associate	28801450
Leukemia Lymphoma Adult T Cell	Associate	26880370
Leukemia Myeloid Acute	Associate	22976956, 24301523, 27405564, 30760869, 38019014
Leukemia Promyelocytic Acute	Associate	33824267
Liver Cirrhosis	Associate	34299031
Lymphoma B Cell	Associate	35834399
Lymphoma Follicular	Associate	36240289
Lymphoma Large B Cell Diffuse	Associate	32469082, 36240289
Lymphoma Mantle Cell	Associate	32239765, 32770099
Lymphoma T Cell Cutaneous	Associate	26551667
Lymphoma T Cell Peripheral	Associate	34980830
Medulloblastoma	Associate	21163964
Melanoma	Associate	33917086, 35345335, 35688970
Meningioma	Associate	35440040
Mesothelioma Malignant	Associate	32429658
Microphthalmos	Associate	36672956
Migraine Disorders	Associate	28801450
Mouth Neoplasms	Associate	35409657
Multiple Myeloma	Associate	35870987
Muscle Hypotonia	Associate	34582124
Nasopharyngeal Carcinoma	Associate	26014803
Nausea	Associate	35945529
Neoplasm Metastasis	Associate	25273170, 33172502, 36604594
Neoplasms	Inhibit	21116761, 21853109, 26438511, 33159839, 34398873
Neoplasms	Associate	22014273, 23991983, 25030029, 25273170, 25303977, 26496030, 26818916, 26880370, 27260798, 27270441, 27340278, 27626165, 28069802, 28569218, 28824725 View all (30 more)
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Neuroendocrine Tumors	Associate	35739266
Neurologic Manifestations	Associate	34582124
Non Muscle Invasive Bladder Neoplasms	Associate	33388091, 39513266, 39817975
Obesity	Associate	27421018
Osteoporosis	Associate	37016415
Ovarian Diseases	Associate	37525498
Ovarian Neoplasms	Associate	24448499, 28888422, 37525498
Paget's Disease Mammary	Associate	30905357
Pancreatic Intraductal Neoplasms	Associate	28776573
Pancreatic Neoplasms	Associate	24293293, 26154128
Papilloma	Associate	25056374
Papillomavirus Infections	Associate	37461056
Peritoneal Neoplasms	Associate	31171626
Peters anomaly	Associate	36672956
Porphyria Acute Intermittent	Associate	31018952
Prostatic Neoplasms	Associate	30385408, 37415738
Rectal Diseases	Associate	37387515
Salivary Duct Calculi	Associate	31609094
Sclerocornea	Associate	36672956
Sezary Syndrome	Associate	26551667
Skin Neoplasms	Associate	32188867
Small Cell Lung Carcinoma	Associate	31199602
Spinal Fractures	Associate	37016415
Squamous Cell Carcinoma of Head and Neck	Associate	25056374, 25275298, 30933315, 35409657
Stomach Neoplasms	Associate	23991983, 24965397, 27708434, 40149431
Stomach Neoplasms	Stimulate	37395342
Tertiary Lymphoid Structures	Inhibit	35409657
Testicular Neoplasms	Associate	35945529
Thymic epithelial tumor	Associate	29736783
Thymoma	Associate	34867976
Thyroid Hormone Resistance Syndrome	Associate	27195705
Thyroid Hormone Resistance Syndrome	Stimulate	27195705
Triple Negative Breast Neoplasms	Associate	27491809, 31146111, 37231433
Turcot syndrome	Associate	38022513
Urinary Bladder Neoplasms	Associate	37247272
Urologic Neoplasms	Associate	38555943
Uterine Cervical Dysplasia	Associate	30567904
Uterine Cervical Neoplasms	Associate	30567904, 32718341, 36333792, 37643132
Weight Loss	Associate	33082492

KMT2C (lysine methyltransferase 2C)