KDM6A (lysine demethylase 6A)

Gene

• Entrez ID: 7403
• Gene name: Lysine demethylase 6A
• Gene symbol: KDM6A
• Synonyms (NCBI Gene): KABUK2, UTX, bA386N14.2
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200638114	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs397514628	C>G,T	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs398122829	TCT>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs398122929	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398122969	TCTA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs755440519	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs761551642	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205676	AACA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs793888509	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs793888510	T>C	Likely-pathogenic	Splice donor variant
rs797045642	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045643	->T	Likely-pathogenic	Splice donor variant
rs797045644	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224886	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886039398	GACA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041452	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041899	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041946	GTAA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs886043476	G>T	Pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs912069418	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs1060499665	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793351	ACCA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064795033	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691535	G>A	Likely-pathogenic	Splice donor variant
rs1135401809	G>A,C	Pathogenic	Splice donor variant
rs1318649487	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1555957146	A>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs1555957162	->GGCGGCGGGAAAAGCG	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs1556115974	T>G	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1556308480	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556311265	->TCAT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556328723	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556328781	->TCTC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556330304	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556341546	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556346208	ATAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556350571	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556357274	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556357314	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556375815	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1569537333	T>C	Likely-pathogenic	Splice donor variant
rs1569542167	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602799769	G>T	Likely-pathogenic	Splice donor variant
rs1602822117	TAACTCCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602868720	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602928108	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602928572	G>A	Likely-pathogenic	Splice donor variant
rs1602965271	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602985802	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603068073	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT445482	hsa-miR-6730-3p	PAR-CLIP	22100165
MIRT445481	hsa-miR-3660	PAR-CLIP	22100165
MIRT445480	hsa-miR-4526	PAR-CLIP	22100165
MIRT445479	hsa-miR-6719-3p	PAR-CLIP	22100165
MIRT445478	hsa-miR-1185-5p	PAR-CLIP	22100165
MIRT445477	hsa-miR-3679-5p	PAR-CLIP	22100165
MIRT445476	hsa-miR-3605-5p	PAR-CLIP	22100165
MIRT445475	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445474	hsa-miR-3915	PAR-CLIP	22100165
MIRT445473	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT445472	hsa-miR-4689	PAR-CLIP	22100165
MIRT445471	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT445470	hsa-miR-6509-5p	PAR-CLIP	22100165
MIRT440399	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440399	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT733124	hsa-miR-425-5p	Western blotting, Luciferase reporter assay, qRT-PCR	31934088
MIRT733342	hsa-miR-199b-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	34257820
MIRT737536	hsa-miR-425-3p	Luciferase reporter assay, Immunoprecipitaion (IP), qRT-PCR	31934088
MIRT445482	hsa-miR-6730-3p	PAR-CLIP	22100165
MIRT445481	hsa-miR-3660	PAR-CLIP	22100165
MIRT445480	hsa-miR-4526	PAR-CLIP	22100165
MIRT445479	hsa-miR-6719-3p	PAR-CLIP	22100165
MIRT445478	hsa-miR-1185-5p	PAR-CLIP	22100165
MIRT445477	hsa-miR-3679-5p	PAR-CLIP	22100165
MIRT445476	hsa-miR-3605-5p	PAR-CLIP	22100165
MIRT445475	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445474	hsa-miR-3915	PAR-CLIP	22100165
MIRT445473	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT445472	hsa-miR-4689	PAR-CLIP	22100165
MIRT445471	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT445470	hsa-miR-6509-5p	PAR-CLIP	22100165
MIRT1084898	hsa-miR-1179	CLIP-seq
MIRT1084899	hsa-miR-1202	CLIP-seq
MIRT1084900	hsa-miR-1297	CLIP-seq
MIRT1084901	hsa-miR-1299	CLIP-seq
MIRT1084902	hsa-miR-1305	CLIP-seq
MIRT1084903	hsa-miR-199a-3p	CLIP-seq
MIRT1084904	hsa-miR-19a	CLIP-seq
MIRT1084905	hsa-miR-19b	CLIP-seq
MIRT1084906	hsa-miR-26a	CLIP-seq
MIRT1084907	hsa-miR-26b	CLIP-seq
MIRT1084908	hsa-miR-3121-3p	CLIP-seq
MIRT1084909	hsa-miR-3129-5p	CLIP-seq
MIRT1084910	hsa-miR-3148	CLIP-seq
MIRT1084911	hsa-miR-3163	CLIP-seq
MIRT1084912	hsa-miR-3168	CLIP-seq
MIRT1084913	hsa-miR-323b-5p	CLIP-seq
MIRT1084914	hsa-miR-340	CLIP-seq
MIRT1084915	hsa-miR-3607-3p	CLIP-seq
MIRT1084916	hsa-miR-3686	CLIP-seq
MIRT1084917	hsa-miR-3924	CLIP-seq
MIRT1084918	hsa-miR-3942-5p	CLIP-seq
MIRT1084919	hsa-miR-3972	CLIP-seq
MIRT1084920	hsa-miR-4280	CLIP-seq
MIRT1084921	hsa-miR-4282	CLIP-seq
MIRT1084922	hsa-miR-4310	CLIP-seq
MIRT1084923	hsa-miR-4423-5p	CLIP-seq
MIRT1084924	hsa-miR-4426	CLIP-seq
MIRT1084925	hsa-miR-4465	CLIP-seq
MIRT1084926	hsa-miR-4474-5p	CLIP-seq
MIRT1084927	hsa-miR-4509	CLIP-seq
MIRT1084928	hsa-miR-455-5p	CLIP-seq
MIRT1084929	hsa-miR-4647	CLIP-seq
MIRT1084930	hsa-miR-4662b	CLIP-seq
MIRT1084931	hsa-miR-4670-3p	CLIP-seq
MIRT1084932	hsa-miR-4703-5p	CLIP-seq
MIRT1084933	hsa-miR-4719	CLIP-seq
MIRT1084934	hsa-miR-4744	CLIP-seq
MIRT1084935	hsa-miR-4762-5p	CLIP-seq
MIRT1084936	hsa-miR-4799-5p	CLIP-seq
MIRT1084937	hsa-miR-498	CLIP-seq
MIRT1084938	hsa-miR-499-3p	CLIP-seq
MIRT1084939	hsa-miR-499a-3p	CLIP-seq
MIRT1084940	hsa-miR-511	CLIP-seq
MIRT1084941	hsa-miR-513a-3p	CLIP-seq
MIRT1084942	hsa-miR-513b	CLIP-seq
MIRT1084943	hsa-miR-583	CLIP-seq
MIRT1084944	hsa-miR-875-3p	CLIP-seq
MIRT1084945	hsa-miR-885-5p	CLIP-seq
MIRT1084946	hsa-miR-936	CLIP-seq
MIRT2021588	hsa-miR-1323	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021592	hsa-miR-3179	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021595	hsa-miR-3647-3p	CLIP-seq
MIRT1084916	hsa-miR-3686	CLIP-seq
MIRT2021596	hsa-miR-3690	CLIP-seq
MIRT2021597	hsa-miR-371-5p	CLIP-seq
MIRT2021598	hsa-miR-371b-5p	CLIP-seq
MIRT2021599	hsa-miR-4254	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021604	hsa-miR-4668-5p	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2021606	hsa-miR-4693-3p	CLIP-seq
MIRT2021607	hsa-miR-4716-3p	CLIP-seq
MIRT2021608	hsa-miR-4729	CLIP-seq
MIRT2021609	hsa-miR-514	CLIP-seq
MIRT2021610	hsa-miR-514b-3p	CLIP-seq
MIRT2021611	hsa-miR-548o	CLIP-seq
MIRT2021612	hsa-miR-548t	CLIP-seq
MIRT2021613	hsa-miR-563	CLIP-seq
MIRT2021614	hsa-miR-625	CLIP-seq
MIRT2021615	hsa-miR-758	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT1084899	hsa-miR-1202	CLIP-seq
MIRT1084900	hsa-miR-1297	CLIP-seq
MIRT1084902	hsa-miR-1305	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT1084903	hsa-miR-199a-3p	CLIP-seq
MIRT1084904	hsa-miR-19a	CLIP-seq
MIRT1084905	hsa-miR-19b	CLIP-seq
MIRT1084906	hsa-miR-26a	CLIP-seq
MIRT1084907	hsa-miR-26b	CLIP-seq
MIRT2253114	hsa-miR-300	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT1084908	hsa-miR-3121-3p	CLIP-seq
MIRT2253115	hsa-miR-3123	CLIP-seq
MIRT1084909	hsa-miR-3129-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT1084913	hsa-miR-323b-5p	CLIP-seq
MIRT1084915	hsa-miR-3607-3p	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT1084916	hsa-miR-3686	CLIP-seq
MIRT2253116	hsa-miR-381	CLIP-seq
MIRT2253117	hsa-miR-3925-5p	CLIP-seq
MIRT1084918	hsa-miR-3942-5p	CLIP-seq
MIRT1084919	hsa-miR-3972	CLIP-seq
MIRT2253118	hsa-miR-3976	CLIP-seq
MIRT1084921	hsa-miR-4282	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT1084924	hsa-miR-4426	CLIP-seq
MIRT1084925	hsa-miR-4465	CLIP-seq
MIRT1084926	hsa-miR-4474-5p	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT1084928	hsa-miR-455-5p	CLIP-seq
MIRT1084929	hsa-miR-4647	CLIP-seq
MIRT1084930	hsa-miR-4662b	CLIP-seq
MIRT2253119	hsa-miR-4666-3p	CLIP-seq
MIRT2253120	hsa-miR-4690-3p	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT1084932	hsa-miR-4703-5p	CLIP-seq
MIRT1084933	hsa-miR-4719	CLIP-seq
MIRT2253121	hsa-miR-4760-3p	CLIP-seq
MIRT1084935	hsa-miR-4762-5p	CLIP-seq
MIRT1084937	hsa-miR-498	CLIP-seq
MIRT1084940	hsa-miR-511	CLIP-seq
MIRT2253122	hsa-miR-539	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT1084946	hsa-miR-936	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2389713	hsa-miR-548c-3p	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT1084946	hsa-miR-936	CLIP-seq
MIRT2555980	hsa-miR-1200	CLIP-seq
MIRT2555981	hsa-miR-1283	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2555982	hsa-miR-298	CLIP-seq
MIRT2555983	hsa-miR-3074-5p	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2555984	hsa-miR-3140-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2555985	hsa-miR-4427	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2555986	hsa-miR-548aa	CLIP-seq
MIRT2555987	hsa-miR-548ac	CLIP-seq
MIRT2555988	hsa-miR-548d-3p	CLIP-seq
MIRT2555989	hsa-miR-548z	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT2555981	hsa-miR-1283	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2555982	hsa-miR-298	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2555986	hsa-miR-548aa	CLIP-seq
MIRT2555987	hsa-miR-548ac	CLIP-seq
MIRT2555988	hsa-miR-548d-3p	CLIP-seq
MIRT2555989	hsa-miR-548z	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	17178841, 24981860, 27705803, 32296183, 33961781, 34667079
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	ISS
GO:0007507	Process	Heart development	IBA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0032452	Function	Histone demethylase activity	IEA
GO:0032452	Function	Histone demethylase activity	TAS
GO:0035097	Component	Histone methyltransferase complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IBA
GO:0044666	Component	MLL3/4 complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IPI	23508102
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0071558	Function	Histone H3K27me2/H3K27me3 demethylase activity	IBA
GO:0071558	Function	Histone H3K27me2/H3K27me3 demethylase activity	IEA

Other IDs

• MIM: 300128
• HGNC: 12637
• e!Ensembl: ENSG00000147050

Protein

• UniProt ID: O15550
• Protein name: Lysine-specific demethylase 6A (EC 1.14.11.68) (Histone demethylase UTX) (Ubiquitously-transcribed TPR protein on the X chromosome) (Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein) ([histone H3]-trimethyl-L-lysine(27) demethylase 6
• Protein function: Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17761849, PubMed:17851529). Demethylates trimethylated and dimethylated but not monomethylated H3
• PDB: 3AVR, 3AVS, 6FUK, 6FUL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13432	TPR_16	106 → 162		Family
  PF13181	TPR_8	205 → 236	Tetratricopeptide repeat	Repeat
  PF02373	JmjC	1133 → 1241	JmjC domain, hydroxylase	Domain

• Sequence:

  MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFV
  RFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLLLEDYPKALSAYQRYY
  SLQSDYWKNAAFLYGLGLVYFHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVN
  TDYESSLKHFQLALVDCNPCTLSNAEIQFHIAHLYETQRKYHSAKEAYEQLLQTENLSAQ
  VKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKV
  QDAFISYRQSIDKSEASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGT
  LYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE
  EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQL
  RANRNNLNPAQKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPNGPTADSSLPTNSVSG
  QQPQLALTRVPSVSQPGVRPACPGQPLANGPFSAGHVPCSTSRTLGSTDTILIGNNHITG
  SGSNGNVPYLQRNALTLPHNRTNLTSSAEEPWKNQLSNSTQGLHKGQSSHSAGPNGERPL
  SSTGPSQHLQAAGSGIQNQNGHPTLPSNSVTQGAALNHLSSHTATSGGQQGITLTKESKP
  SGNILTVPETSRHTGETPNSTASVEGLPNHVHQMTADAVCSPSHGDSKSPGLLSSDNPQL
  SALLMGKANNNVGTGTCDKVNNIHPAVHTKTDNSVASSPSSAISTATPSPKSTEQTTTNS
  VTSLNSPHSGLHTINGEGMEESQSPMKTDLLLVNHKPSPQIIPSMSVSIYPSSAEVLKAC
  RNLGKNGLSNSSILLDKCPPPRPPSSPYPPLPKDKLNPPTPSIYLENKRDAFFPPLHQFC
  TNPNNPVTVIRGLAGALKLDLGLFSTKTLVEANNEHMVEVRTQLLQPADENWDPTGTKKI
  WHCESNRSHTTIAKYAQYQASSFQESLREENEKRSHHKDHSDSESTSSDNSGRRRKGPFK
  TIKFGTNIDLSDDKKWKLQLHELTKLPAFVRVVSAGNLLSHVGHTILGMNTVQLYMKVPG
  SRTPGHQENNNFCSVNINIGPGDCEWFVVPEGYWGVLNDFCEKNNLNFLMGSWWPNLEDL
  YEANVPVYRFIQRPGDLVWINAGTVHWVQAIGWCNNIAWNVGPLTACQYKLAVERYEWNK
  LQSVKSIVPMVHLSWNMARNIKVSDPKLFEMIKYCLLRTLKQCQTLREALIAAGKEIIWH
  GRTKEEPAHYCSICEVEVFDLLFVTNESNSRKTYIVHCQDCARKTSGNLENFVVLEQYKM
  EDLMQVYDQFTLAPPLPSASS

• Sequence length: 1401

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

HDMs demethylate histones

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
Anemia	Likely pathogenic; Pathogenic	rs1318649487	RCV005626218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs2523162465	RCV003127249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs1131691535	RCV005899782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs2147777529	RCV005867166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Pathogenic	rs886041946	RCV005869204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kabuki syndrome 1	Likely pathogenic; Pathogenic	rs1555957146, rs1450363794, rs2044403163	RCV000659683 RCV001813796 RCV002504381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kabuki syndrome 2	Pathogenic; Likely pathogenic	rs2148058653, rs2147263638, rs2147776373, rs2148193855, rs2148047495, rs1358181248, rs2146448773, rs2148143831, rs2147963446, rs2148058668, rs2148050812, rs2148169594, rs746435548, rs2523246933, rs2521643351, rs2522201595, rs793888509, rs793888510, rs2522982178, rs2522983092, rs2522770771, rs786205676, rs2046713136, rs797045642, rs797045643, rs797045644, rs863224886, rs2147664601, rs1569533871, rs2147975941, rs2520298620, rs2522874590, rs2523168080, rs2520298732, rs2519224295, rs2522637621, rs2523330593, rs886039398, rs2522671934, rs1315389362, rs2523335614, rs2147170755, rs2044409446, rs2522811516, rs2045462398, rs2521468886, rs2522976055, rs1060499665, rs1064793351, rs1135401809, rs1556328781, rs1556341546, rs398122929, rs397514628, rs398122829, rs1556346208, rs1556357314, rs1556330304, rs1556350571, rs1556311265, rs1556357274, rs1569537333, rs1450363794, rs1569542167, rs755440519, rs1602868720, rs1602985802, rs1318649487, rs1602799769, rs1602928572, rs1603068073, rs912069418, rs1602928108, rs2044750709, rs1195711941, rs2031089646, rs2044199885, rs2045472713, rs398122969, rs2041729565, rs2042138847, rs2042747021, rs2042875800, rs2043963299, rs2045273679, rs2045619034, rs189751539, rs2044404250, rs2044726547, rs2045279014, rs2045473471, rs2044215489, rs2044403163, rs2523142753, rs2043958892	RCV001378320 RCV001384329 RCV001384092 RCV001782333 RCV001808850 RCV001864991 RCV002002778 RCV001958983 RCV002007550 RCV001960713 RCV002245292 RCV002256958 RCV002274445 RCV002287202 RCV002290181 RCV002291411 RCV000172945 RCV000172946 RCV002465402 RCV002471453 RCV002471667 RCV000170468 RCV002510553 RCV000193284 RCV000194978 RCV000193227 RCV000197668 RCV003016562 RCV003021499 RCV003013604 RCV003064000 RCV003146802 RCV003140819 RCV003149106 RCV003149108 RCV003149109 RCV003224997 RCV001224758 RCV003233019 RCV003331939 RCV003528553 RCV003528858 RCV003527644 RCV003527865 RCV003643864 RCV004018290 RCV004555053 RCV000449529 RCV003148752 RCV000496172 RCV000528053 RCV000540641 RCV000033119 RCV000033120 RCV000033121 RCV001854126 RCV003148808 RCV000649035 RCV000687466 RCV000690858 RCV000677411 RCV000677732 RCV000706419 RCV000685508 RCV000760202 RCV003642916 RCV000789043 RCV000803634 RCV000798575 RCV000810693 RCV000821618 RCV000850404 RCV000853276 RCV000853352 RCV001068302 RCV001238223 RCV001254085 RCV001254086 RCV001258336 RCV000076920 RCV001261238 RCV001261240 RCV001261241 RCV001261278 RCV001261232 RCV001261235 RCV001261279 RCV001261239 RCV001261233 RCV001261234 RCV001261236 RCV001261237 RCV001265643 RCV001382692 RCV001270417 RCV001270443	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KDM6A-related disorder	Likely pathogenic; Pathogenic	rs2147997359, rs2522766989	RCV003419023 RCV003400160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs2147777529, rs2147959076, rs2522833971, rs2147997903, rs2044234392, rs2522782154, rs2523282436, rs2148193752, rs1556308480, rs912069418	RCV005867167 RCV003332936 RCV003332937 RCV003332938 RCV003332953 RCV003332954 RCV003332955 RCV003332956 RCV003332211 RCV003332269	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma non-WNT/non-SHH group 4	Pathogenic	rs886041946, rs189751539	RCV006253935 RCV006254254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs863224886	RCV006253882	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1135401809	RCV006273974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2522808002, rs755440519	RCV003389207 RCV001779074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs793888509, rs1135401809, rs1569537333, rs2044282736, rs2043958892	RCV005888595 RCV005900402 RCV005901747 RCV005909307 RCV005910800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2148058653, rs2148169289, rs2042138847	RCV005912602 RCV005922714 RCV005909272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARGE syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KABUKI MAKE-UP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KABUKI SYNDROME	—	CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki Syndrome - KDM6A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral precocious puberty	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	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
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	21436577, 21436584		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30306561		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	21248752		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22722829, 29108280		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23685749		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30556125		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23685749		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27602765	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31363182	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31403466, 31403472		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30006524		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	19330029		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21822268, 25225064, 26901314, 27533081, 27983522, 28228601		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31483290, 36215227	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23266085, 24491801, 25225064, 28534508, 29029452, 30327465, 31685800		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23266085	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25225064, 26303947, 30327465, 31685800	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36638328	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	32466769	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35254477	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	31734230	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21822268, 25225064, 26901314, 27533081, 27983522, 28228601		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28698146		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35061935	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20054297, 23057811, 23644518, 27983522, 34949764, 36052737, 37964489	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30377206	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	29300383	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22722829, 29108280		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31241814		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	27039394		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	30401751	Associate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	23644518		★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	36672956	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33174323	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28551381		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28551381, 33174323, 33895166	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	24527667, 29073101		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	30509212		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	29902804		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	36890748	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	26898171		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29617172		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22949125, 23057811, 25873528, 27983522, 28789379, 30108105		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28884922		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29171124		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29227285		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29227285		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	40307916	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Congenital Autoimmune	Diabetes mellitus	Pubtator	40307916	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29227285, 30516825		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	23913813		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36890748	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15690368, 15690370, 17178841, 18434530, 19330029, 21280141, 21658225, 21671394, 22192413, 22197486, 23076834, 23354975, 23913813, 24527667, 24664873, 27302555, 9499428		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	32466769	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	40307916	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27294188, 29351209	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Diseases	Eye disease	Pubtator	36672956	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	26542946		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29227285		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27367247		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27989769, 36215227	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27367247		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	29902804		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	20442750		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30566180	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24465480	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29281014		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	30509212	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29902804		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	32830475	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25351418	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30306561, 37768037	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	30632288		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22197486, 40307916	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	28793284		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	21828135		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	22197486, 22840376, 22901312, 23076834, 23913813, 24527667, 24664873, 24739679, 24838796, 25972376, 26841933, 27028180, 27302555, 27568880, 27999180, 28139835, 28793284, 29073101, 29283410, 29307790, 29482518, 29536651, 29725259, 29902804, 29907798, 30497982, 30509212, 30556359, 30767315, 31097364, 31587141, 31654559, 31727177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki make-up syndrome	Kabuki Syndrome	ORPHANET_DG	22197486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki make-up syndrome	Kabuki Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki make-up syndrome	Kabuki Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki make-up syndrome	Kabuki Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome	Kabuki Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome	Kabuki syndrome	Pubtator	22197486, 24633898, 29536651, 29725259, 29907798, 29914387, 30497982, 30509212, 30556359, 31363182, 31876365, 32830475, 33546721, 33674768, 34803161, 35384273, 35930004, 36890748, 38282012, 40307916	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KABUKI SYNDROME 2	Kabuki Syndrome	GENOMICS_ENGLAND_DG	22197486, 23535010, 24664873, 29300383, 29907798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KABUKI SYNDROME 2	Kabuki Syndrome	CLINVAR_DG	23076834, 25972376, 27302555		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31727177		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29227285		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25071154, 26944678, 30668141		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25071154, 26944678, 29224413	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37088137	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	21828135, 31048357	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29736013, 30668141, 31044091, 31201358, 31751472		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	21828135, 29479066		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	30628063		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23033341	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28695659, 30006524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	31776129	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23266085, 24491801, 25225064, 28534508, 29029452, 30327465, 31685800		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23925944		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28698146		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29533787, 30556125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24200674, 30628063		★☆☆☆☆ 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	30374835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21822268, 25225064, 26901314, 27533081, 27983522, 28228601		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19330029, 20081860, 21248752, 23057811, 24987060, 26193001, 27151432, 27638352, 27819678, 29045832, 29421189, 29533787, 30628063, 30668141, 30753822, 31097364, 31221981, 31285428		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	19330029		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22722829, 29108280		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22832583, 36131014	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29975213		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	26240495, 33087175	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	36672956	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15690368, 15690370, 17178841, 18434530, 19330029, 21280141, 21658225, 21671394, 22192413, 22197486, 23076834, 23354975, 23913813, 24527667, 24664873, 27302555, 9499428		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19912222, 29045832		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31403466		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22160087, 25976472, 31044091		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19388938	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	19330029		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20123895, 20212086, 22199269, 23184418, 24987060, 25225064, 25299233, 26283183, 26944678, 27367247, 27819678, 28228601, 28695659, 28698146, 29136510, 29483212, 29533787, 29573965, 30006524, 30556125, 30692641, 31201358		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	31523200		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36046996	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30651137, 31615908		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29533787, 30556125		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30556125		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30306561	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26944678		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24200674, 30628063		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26542946	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26542946, 27819678, 35944897	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39741346	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23925944		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23057811, 27983522, 30030490, 30108105		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	23926199		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	23926199		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	29227285		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	33397444	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20123895		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31297569		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30632288		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602, 33880365	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	29351209, 30499911		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25275298, 34465286	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30374835		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tooth Diseases	Tooth disease	Pubtator	29725259	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26898171		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27491809, 32923150	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29029452		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	33174323	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	27039394, 27302555, 29902804		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	23354975		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	30352907	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21822268, 24357085, 25225064, 26901314, 27533081, 27699256, 27983522, 29136510, 31233191, 32012118, 32989154, 33849962, 34051747, 34793662, 34953602, 36638328, 36980177, 37718188, 40693457	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30987376		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28968467	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only