KMT2C (lysine methyltransferase 2C)

Gene

• Entrez ID: 58508
• Gene name: Lysine methyltransferase 2C
• Gene symbol: KMT2C
• Synonyms (NCBI Gene): HALR, KLEFS2, MLL3
• 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

SNPs

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

miRNA

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 assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, In situ hybridization, Immunocytochemistry (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

Gene ontology (GO)

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

Other IDs

• MIM: 606833
• HGNC: 13726
• e!Ensembl: ENSG00000055609

Protein

• UniProt ID: 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

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

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

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism spectrum disorder	Pathogenic	rs2093231242	RCV003127742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1563831738	RCV000680024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kleefstra syndrome 1	Pathogenic	rs2093235396	RCV001335515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kleefstra syndrome 2	Pathogenic; Likely pathogenic	rs2093235396, rs2129115127, rs2129119362, rs2129099779, rs2129145649, rs2129119384, rs2129128809, rs2129145634, rs2129163740, rs2129121010, rs2129119641, rs2485738685, rs2487614684, rs2487796038, rs2485846446, rs2129120525, rs2487689029, rs2486745974, rs2487587513, rs763438739, rs2485835065, rs2487596421, rs2487684914, rs2487691264, rs2129124731, rs2129095098, rs2129112621, rs2487691137, rs2129112579, rs2486102657, rs2487614749, rs749571160, rs2487794552, rs1554505381, rs779659766, rs1554580083, rs1554477105, rs1554496813, rs1588119681, rs1588571802, rs1588573059, rs587777073, rs2091742405, rs2093221854, rs2093489078, rs2091357682	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kleefstra syndrome due to a point mutation	Pathogenic	rs1588343792	RCV000826194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KMT2C-related disorder	Likely pathogenic; Pathogenic	rs2487894291, rs2129092780, rs749571160, rs1587953116	RCV004528635 RCV004529254 RCV004736443 RCV004545811	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma WNT activated	Pathogenic	rs938655561	RCV006254302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1587941402, rs1003155450	RCV000984093 RCV000984115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1563288201, rs2096675479	RCV006274253 RCV006274463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs2093231242	RCV001264710	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2129119932, rs2129101553	RCV002274352 RCV002274402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2129115127	RCV001374924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Pathogenic	rs2093221854	RCV001257012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs778602278, rs2485789680	RCV002226410 RCV003320004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
atypical cerebral palsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism, susceptiblity to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy 92	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEEFSTRA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES, PARASITIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24301523		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	24794707		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	24794707		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12885467		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	21163964		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	26880370		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	36601880	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	35945529	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	37226099	Associate	★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27203213	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27632392, 34356069	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27632392, 29069077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25303977	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31483290	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21116761, 22143955, 27926873, 27986439, 29755131, 31146111		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21116761, 22722193, 27195705, 27926873, 27986439, 28569218, 29807833, 30649385, 31146111, 32811538, 33407744, 34408553, 34581028, 34888385, 35589867, 36604594, 37239898, 38003265, 38523186, 40305907	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31897900	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23991983, 26880370, 31381885, 32188867	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	31300474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	27491809	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33928395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33355042, 33726759, 34299031, 35602894, 36899918	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26249178, 38523186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	25531179	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33832503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	26818916		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26350096		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24293293, 30970447	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27713405, 30622286, 31098421, 31381885	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25303977, 34398873, 36333792, 37908048	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	27009459	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28805231		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	21163964		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38113975	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholestasis	Cholestasis	BEFREE	21330447		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	30401751	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28524162	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	36672956	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21853109, 23259788, 24706189, 26620301, 27405564		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20126641, 21853109, 22014273, 27023146, 27260798, 27405564, 30018131, 32471474, 36601880, 38492821	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	38022513	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25693006		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	32393201	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11718452		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29061174, 29276005, 38453051	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34850017	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27997699		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	31381885	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25273170, 33725708, 37705061	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exostoses	Exostoses	Pubtator	34582124	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	36672956	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33328484, 33813726	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	35504960	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26496030	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29272522		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29272522	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	34850017	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31159745		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	31159745, 34635145, 37914089	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	35409657	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24656127, 9593288		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31774495, 35893033	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36250618	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	22726846, 29069077		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29069077		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Kleefstra syndrome	Kleefstra Syndrome	BEFREE	29069077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kleefstra Syndrome	Kleefstra syndrome	Pubtator	32366967	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	BEFREE	29069077		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KLEEFSTRA SYNDROME 2	Kleefstra Syndrome	GENOMICS_ENGLAND_DG	22726846, 29276005		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KLEEFSTRA SYNDROME 2	Kleefstra Syndrome	CLINVAR_DG	22726846, 29069077		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kleefstra syndrome due to a point mutation	Kleefstra Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26818916	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11718452, 21998658, 22234698		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22234698, 24301523	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	28801450	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22976956, 24301523, 27405564, 30760869, 38019014	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	33824267	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15350305, 24301523, 24794707, 24823633, 27405564, 27610619, 28940816, 29384595		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	24794707		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	26880370		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22634756		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24379610, 28892047		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	34299031	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	36240289	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31159745		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21116761, 22143955, 27926873, 27986439, 29755131, 29926297, 31146111		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27997699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	26818916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26350096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22484628, 23259788, 23991983, 24744582, 24965397, 25222251		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11718452, 11891048, 20824714, 21853109, 24081332, 24656127, 25794446, 26818916, 27610619, 27638352, 28569218, 29367767, 29785026, 30604749, 30665945, 30753822, 31128216, 31646828		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21116761		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21163964		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21163964	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33917086, 35345335, 35688970	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	35440040	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	32429658	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	36672956	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28801450	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35409657	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous carcinoma of breast	Mucinous Carcinoma Of Breast	BEFREE	30649385		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35870987	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24823633, 27610619		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29483845		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26014803, 31646828		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26014803	Associate	★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	35945529	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21116761, 21853109, 24293293, 24794707, 24823633, 25299233, 25633166, 25794446, 26438511, 28013028, 29755131, 29785026, 30108106, 30194301, 31774495		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29926297		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27421018	Associate	★☆☆☆☆ Found in Text Mining only
obsolete Prominent epicanthal folds	Obsolete Prominent Epicanthal Folds	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	27986439, 29755131		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30905357		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37016415	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29113313, 30093974, 30416688, 31337554		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	37525498	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24448499, 28888422, 37525498	Associate	★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	30905357		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	24293293		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24293293, 26154128	Associate	★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	BEFREE	31381885		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	31381885		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	25056374	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	31171626	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29069077		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	31018952	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30385408, 37415738	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24287731		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26551667	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	32188867	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25273170, 30881012		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25056374, 25275298, 30933315, 35409657	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23991983, 24744582, 24965397, 25222251		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	22484628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	23991983, 24965397, 27708434, 40149431	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37395342	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	29629950		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	35945529	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25299233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	27195705	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	27195705	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27491809, 31146111, 37231433	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	38022513	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37247272	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urologic Neoplasms	Urologic neoplasm	Pubtator	38555943	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	30567904	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30567904, 32718341, 36333792, 37643132	Associate	★☆☆☆☆ Found in Text Mining only