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	55904
Gene name	Lysine methyltransferase 2E (inactive)
Gene symbol	KMT2E
Synonyms (NCBI Gene)	HDCMC04PMLL5NKp44LODLUROSETD5B
Chromosome	7
Chromosome location	7q22.3
Summary	This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptiona

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74375534	G>A,T	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs186916831	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1554394210	T>C	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1562927768	AAAGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562928193	->TA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562931936	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1584751177	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584796761	G>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584802161	C>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584802744	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584803713	ACTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584803745	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584803942	A>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1584805072	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584807827	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584808269	TA>-	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant, non coding transcript variant

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017069	hsa-miR-335-5p	Microarray	18185580
MIRT036034	hsa-miR-1301-3p	CLASH	23622248
MIRT727181	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727180	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727178	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727179	hsa-miR-181d-5p	HITS-CLIP	22473208

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	23798402
GO:0000791	Component	Euchromatin	IDA	23798402
GO:0002446	Process	Neutrophil mediated immunity	IEA
GO:0002446	Process	Neutrophil mediated immunity	ISS
GO:0003713	Function	Transcription coactivator activity	IDA	23629655
GO:0005515	Function	Protein binding	IPI	21423215, 23629655, 23958951, 32296183
GO:0005634	Component	Nucleus	IDA	23629655, 26678539
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0019899	Function	Enzyme binding	IPI	23629655, 26678539
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0032991	Component	Protein-containing complex	IDA	23629655, 26678539
GO:0034967	Component	Set3 complex	IBA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	ISS
GO:0042119	Process	Neutrophil activation	IEA
GO:0042119	Process	Neutrophil activation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	23629655
GO:0046872	Function	Metal ion binding	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0070210	Component	Rpd3L-Expanded complex	IBA
GO:0140002	Function	Histone H3K4me3 reader activity	IDA	24130829
GO:0140002	Function	Histone H3K4me3 reader activity	IMP	23798402
GO:0140938	Function	Histone H3 methyltransferase activity	IDA	27812132
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	23629655

MIM	HGNC	e!Ensembl
608444	18541	ENSG00000005483

Q8IZD2

Protein name

Inactive histone-lysine N-methyltransferase 2E (Inactive lysine N-methyltransferase 2E) (Myeloid/lymphoid or mixed-lineage leukemia protein 5)

Protein function

Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:23798402, PubMed:24130829). Chromatin interaction is mediated via the binding to tri-methy

PDB

2LV9 , 4L58 , 5HT6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00628	PHD	120 → 166	PHD-finger	Domain
PF00856	SET	155 → 447	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in both adult and fetal tissues (PubMed:12101424, PubMed:23958951). Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum (PubMed:12101424, PubMed:2

Sequence

MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLP
YADHNYGARPPPTPPASPPPSVLISKNEVGIFTTPNFDETSSATTISTSEDGSYGTDVTR
CICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK
RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISK
CKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREA
QRIALRLGNGNDKKEMNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRG
KFMLREQFEANGYFFKRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHE
IQDGTIHLYIYSIHSIPKGTEITIAFDFDYGNCKYKVDCACLKENPECPVLKRSSESMEN
INSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPETKQRKLSPLRLSVSNN
QEPDFIDDIEEKTPISNEVEMESEEQIAERKRKMTREERKMEAILQAFARLEKREKRREQ
ALERISTAKTEVKTECKDTQIVSDAEVIQEQAKEENASKPTPAKVNRTKQRKSFSRSRTH
IGQQRRRHRTVSMCSDIQPSSPDIEVTSQQNDIENTVLTIEPETETALAEIITETEVPAL
NKCPTKYPKTKKHLVNEWLSEKNEKTGKPSDGLSERPLRITTDPEVLATQLNSLPGLTYS
PHVYSTPKHYIRFTSPFLSEKRRRKEPTENISGSCKKRWLKQALEEENSAILHRFNSPCQ
ERSRSPAVNGENKSPLLLNDSCSLPDLTTPLKKRRFYQLLDSVYSETSTPTPSPYATPTH
TDITPMDPSFATPPRIKSDDETCRNGYKPIYSPVTPVTPGTPGNTMHFENISSPESSPEI
KRRTYSQEGYDRSSTMLTLGPFRNSNLTELGLQEIKTIGYTSPRSRTEVNRQCPGEKEPV
SDLQLGLDAVEPTALHKTLETPAHDRAEPNSQLDSTHSGRGTMYSSWVKSPDRTGVNFSV
NSNLRDLTPSHQLEVGGGFRISESKCLMQDDTRGMFMETTVFCTSEDGLVSGFGRTVNDN
LIDGNCTPQNPPQKKKVSLLEYRKRQREARKSGSKTENFPLISVSPHASGSLSNNGDGCA
SSNDNGEQVDHTASLPLPTPATVYNATSEETSNNCPVKDATASEKNEPEVQWTASTSVEQ
VRERSYQRALLLSDHRKDKDSGGESPCVSCSPSHVQSSPSSHSNHIPQLQAKGPVPSFSE
LMEDPDPENPEPTTTNECPSPDTSQNTCKSPPKMSKPGSPGSVIPAQAHGKIFTKPDPQW
DSTVSASEAENGVHLKTELQQKQLSNNNQALSKNHPPQTHVRNSSEQLSQKLPSVPTKLH
CPPSPHLENPPKSSTPHTPVQHGYLSPKPPSQQLGSPYRPHHSQSPQVGTPQREPQRNFY
PAAQNLPANTQQATSGTLFTQTPSGQSSATYSQFNQQSLNSTAPPPPPPPPPSSSYYQNQ
QPSANFQNYNQLKGSLSQQTVFTSGPNQALPGTTSQQTVPGHHVTPGHFLPSQNPTIHHQ
TAAAVVPPPPPPPPAPGPHLVQQPNSHQQHSVAHVVGPVHAVTPGSHIHSQTAGHHLPPP
PPPPGPAPHHHPPPHPSTGLQGLQAQHQHVVNSAPPPPPPPPPSSVLASGHHTTSAQALH
HPPHQGPPLFPSSAHPTVPPYPSQATHHTTLGPGPQHQPSGTGPHCPLPVTGPHLQPQGP
NSIPTPTASGFCPHPGSVALPHGVQGPQQASPVPGQIPIHRAQVPPTFQNNYHGSGWH

Sequence length

1858

Interactions

View interactions

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

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

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic; Pathogenic	rs777413129	RCV002463863	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1562928193	RCV000735811	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KMT2E-related disorder	Likely pathogenic; Pathogenic	rs1243172283, rs2536523348	RCV004743443 RCV003982806	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2129569915, rs2129568394	RCV002274353 RCV002274412	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2129567978, rs2536417191, rs1798679896	RCV002277706 RCV004018304 RCV001267669	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Likely pathogenic	rs2129570184	RCV001823316	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
O'Donnell-Luria-Rodan syndrome	Likely pathogenic; Pathogenic	rs1798939855, rs2129567233, rs1243172283, rs2129565360, rs2129567141, rs2129567228, rs2129568047, rs2129568919, rs1476442868, rs2129569834, rs2129569867, rs2129569889, rs2129570178, rs1479029169, rs1295432172 View all (34 more)	RCV001331058 RCV004017834 RCV001420174 RCV001420170 RCV001420176 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal cerebellar vermis morphology	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 40	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	26678539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24586211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24586211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25284784	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	31079897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	31079897	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	31079897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21908553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	30804558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	14718661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31079897, 34321323, 38453051, 39709003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	29447242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31079897	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Generalized	Generalized epilepsy	Pubtator	39709003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26626085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31079897		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31079897		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31079897		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31079897	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	12101424, 21205756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	CTD_human_DG	18818388		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	24796963, 33824267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	18854576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21205756, 24895338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14718661, 20439461, 26626085, 26678539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40	Mental retardation	GENOMICS_ENGLAND_DG	31079897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31079897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	12101424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	18854576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31024551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31079897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33050986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin-picking	Skin-picking	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin-picking	Skin-picking	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

KMT2E (lysine methyltransferase 2E (inactive))