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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8242
Gene name	Lysine demethylase 5C
Gene symbol	KDM5C
Synonyms (NCBI Gene)	DXS1272EJARID1CMRX13MRXJMRXS16MRXSCJMRXSJSMCXXE169
Chromosome	X
Chromosome location	Xp11.22
Summary	This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35353912	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs138520224	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs199422235	C>G	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199422237	G>A,C	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs199422239	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs201805773	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs387906729	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587780372	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs782205045	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs782600511	->G	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs782663655	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs797044695	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs797044706	C>A	Pathogenic	Intron variant, splice donor variant
rs797044731	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs878853151	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886037836	C>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs886041855	T>C	Pathogenic	Splice acceptor variant
rs1057515581	->TA	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057518697	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519393	->A	Pathogenic	Splice donor variant
rs1057520198	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1060499661	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064793975	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1085307462	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131692227	AGAGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1556838673	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556842137	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556842184	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556842268	TC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556852362	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556856142	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569273900	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569274606	T>C	Pathogenic	Splice acceptor variant
rs1569278313	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569285562	T>C	Likely-pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs1602183619	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602183890	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602211821	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602226289	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1602228596	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602231587	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1602237187	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1602247047	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained

107

Show/Hide all (107)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050192	hsa-miR-26a-5p	CLASH	23622248
MIRT044496	hsa-miR-320a	CLASH	23622248
MIRT043887	hsa-miR-378a-3p	CLASH	23622248
MIRT042989	hsa-miR-324-3p	CLASH	23622248
MIRT042424	hsa-miR-425-3p	CLASH	23622248
MIRT041792	hsa-miR-484	CLASH	23622248
MIRT040478	hsa-miR-605-5p	CLASH	23622248
MIRT036342	hsa-miR-1229-3p	CLASH	23622248
MIRT455372	hsa-miR-132-3p	PAR-CLIP	23592263
MIRT455371	hsa-miR-212-3p	PAR-CLIP	23592263
MIRT455370	hsa-miR-3154	PAR-CLIP	23592263
MIRT455369	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT455368	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT455367	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT455366	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT455365	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT455364	hsa-miR-7515	PAR-CLIP	23592263
MIRT455363	hsa-miR-3179	PAR-CLIP	23592263
MIRT455362	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT455361	hsa-miR-3202	PAR-CLIP	23592263
MIRT455359	hsa-miR-4434	PAR-CLIP	23592263
MIRT455360	hsa-miR-4516	PAR-CLIP	23592263
MIRT455358	hsa-miR-5703	PAR-CLIP	23592263
MIRT455357	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT455356	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT455355	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT455354	hsa-miR-4271	PAR-CLIP	23592263
MIRT455353	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT455352	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT455351	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT732527	hsa-miR-133a-3p	Immunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCR	33654410
MIRT455372	hsa-miR-132-3p	PAR-CLIP	23592263
MIRT455371	hsa-miR-212-3p	PAR-CLIP	23592263
MIRT455370	hsa-miR-3154	PAR-CLIP	23592263
MIRT455369	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT455368	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT455367	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT455366	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT455365	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT455364	hsa-miR-7515	PAR-CLIP	23592263
MIRT455363	hsa-miR-3179	PAR-CLIP	23592263
MIRT455362	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT455361	hsa-miR-3202	PAR-CLIP	23592263
MIRT455359	hsa-miR-4434	PAR-CLIP	23592263
MIRT455360	hsa-miR-4516	PAR-CLIP	23592263
MIRT455358	hsa-miR-5703	PAR-CLIP	23592263
MIRT455357	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT455356	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT455355	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT455354	hsa-miR-4271	PAR-CLIP	23592263
MIRT455353	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT455352	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT455351	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT1084845	hsa-miR-1184	CLIP-seq
MIRT1084846	hsa-miR-1205	CLIP-seq
MIRT1084847	hsa-miR-1321	CLIP-seq
MIRT1084848	hsa-miR-153	CLIP-seq
MIRT1084849	hsa-miR-3150b-3p	CLIP-seq
MIRT1084850	hsa-miR-3158-5p	CLIP-seq
MIRT1084851	hsa-miR-3201	CLIP-seq
MIRT1084852	hsa-miR-320e	CLIP-seq
MIRT1084853	hsa-miR-3609	CLIP-seq
MIRT1084854	hsa-miR-361-3p	CLIP-seq
MIRT1084855	hsa-miR-380	CLIP-seq
MIRT1084856	hsa-miR-3924	CLIP-seq
MIRT1084857	hsa-miR-410	CLIP-seq
MIRT1084858	hsa-miR-4270	CLIP-seq
MIRT1084859	hsa-miR-4325	CLIP-seq
MIRT1084860	hsa-miR-4427	CLIP-seq
MIRT1084861	hsa-miR-4428	CLIP-seq
MIRT1084862	hsa-miR-4441	CLIP-seq
MIRT1084863	hsa-miR-4459	CLIP-seq
MIRT1084864	hsa-miR-448	CLIP-seq
MIRT1084865	hsa-miR-4495	CLIP-seq
MIRT1084866	hsa-miR-4503	CLIP-seq
MIRT1084867	hsa-miR-4653-3p	CLIP-seq
MIRT1084868	hsa-miR-4680-3p	CLIP-seq
MIRT1084869	hsa-miR-4680-5p	CLIP-seq
MIRT1084870	hsa-miR-4714-5p	CLIP-seq
MIRT1084871	hsa-miR-4729	CLIP-seq
MIRT1084872	hsa-miR-4739	CLIP-seq
MIRT1084873	hsa-miR-4756-5p	CLIP-seq
MIRT1084874	hsa-miR-4784	CLIP-seq
MIRT1084875	hsa-miR-4789-5p	CLIP-seq
MIRT1084876	hsa-miR-4791	CLIP-seq
MIRT1084877	hsa-miR-4802-5p	CLIP-seq
MIRT1084878	hsa-miR-491-3p	CLIP-seq
MIRT1084879	hsa-miR-494	CLIP-seq
MIRT1084880	hsa-miR-539	CLIP-seq
MIRT1084881	hsa-miR-544	CLIP-seq
MIRT1084882	hsa-miR-548ah	CLIP-seq
MIRT1084883	hsa-miR-548t	CLIP-seq
MIRT1084884	hsa-miR-590-3p	CLIP-seq
MIRT1084885	hsa-miR-626	CLIP-seq
MIRT1084886	hsa-miR-656	CLIP-seq
MIRT1084887	hsa-miR-665	CLIP-seq
MIRT1084888	hsa-miR-765	CLIP-seq
MIRT1084889	hsa-miR-936	CLIP-seq
MIRT2021586	hsa-miR-4263	CLIP-seq
MIRT2021587	hsa-miR-593	CLIP-seq
MIRT2021586	hsa-miR-4263	CLIP-seq
MIRT2253108	hsa-miR-576-5p	CLIP-seq
MIRT1084858	hsa-miR-4270	CLIP-seq
MIRT1084862	hsa-miR-4441	CLIP-seq
MIRT1084858	hsa-miR-4270	CLIP-seq
MIRT1084862	hsa-miR-4441	CLIP-seq
MIRT1084880	hsa-miR-539	CLIP-seq

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Transcription factor	Regulation	Reference
ARX	Unknown	23246292

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17468742, 20133580
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18078810
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	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0008270	Function	Zinc ion binding	IDA	27214403
GO:0008270	Function	Zinc ion binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0032452	Function	Histone demethylase activity	TAS
GO:0032453	Function	Histone H3K4 demethylase activity	IDA	17320160
GO:0032453	Function	Histone H3K4 demethylase activity	IEA
GO:0032453	Function	Histone H3K4 demethylase activity	IMP	28262558
GO:0034647	Function	Histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IBA
GO:0034647	Function	Histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0051213	Function	Dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
314690	11114	ENSG00000126012

P41229

Protein name

Lysine-specific demethylase 5C (EC 1.14.11.67) (Histone demethylase JARID1C) (Jumonji/ARID domain-containing protein 1C) (Protein SmcX) (Protein Xe169) ([histone H3]-trimethyl-L-lysine(4) demethylase 5C)

Protein function

Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylat

PDB

2JRZ , 5FWJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02375	JmjN	15 → 48	jmjN domain	Family
PF01388	ARID	81 → 165	ARID/BRIGHT DNA binding domain	Domain
PF00628	PHD	326 → 374	PHD-finger	Domain
PF02373	JmjC	501 → 617	JmjC domain, hydroxylase	Domain
PF02928	zf-C5HC2	707 → 759	C5HC2 zinc finger	Domain
PF08429	PLU-1	772 → 1100	PLU-1-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined. Highest levels found in brain and skeletal muscle. {ECO:0000269|PubMed:15586325}.

Sequence

MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEV
DNFRFTPRIQRLNELEAQTRVKLNYLDQIAKFWEIQGSSLKIPNVERRILDLYSLSKIVV
EEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDPEPTEEDIEKNPELKKLQIYG
AGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEELGGDVKVESTSPKTFLESKEELSH
SPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYHIFCLLPPLPE
IPKGVWRCPKCVMAECKRPPEAFGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTEL
VEKEFWRLVNSIEEDVTVEYGADIHSKEFGSGFPVSDSKRHLTPEEEEYATSGWNLNVMP
VLEQSVLCHINADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINYLHWGEPKTWYGVPSL
AAEHLEEVMKKLTPELFDSQPDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGEFVITFPRA
YHSGFNQGYNFAEAVNFCTADWLPAGRQCIEHYRRLRRYCVFSHEELICKMAACPEKLDL
NLAAAVHKEMFIMVQEERRLRKALLEKGITEAEREAFELLPDDERQCIKCKTTCFLSALA
CYDCPDGLVCLSHINDLCKCSSSRQYLRYRYTLDELPAMLHKLKVRAESFDTWANKVRVA
LEVEDGRKRSLEELRALESEARERRFPNSELLQQLKNCLSEAEACVSRALGLVSGQEAGP
HRVAGLQMTLTELRAFLDQMNNLPCAMHQIGDVKGVLEQVEAYQAEAREALASLPSSPGL
LQSLLERGRQLGVEVPEAQQLQRQVEQARWLDEVKRTLAPSARRGTLAVMRGLLVAGASV
APSPAVDKAQAELQELLTIAERWEEKAHLCLEARQKHPPATLEAIIREAENIPVHLPNIQ
ALKEALAKARAWIADVDEIQNGDHYPCLDDLEGLVAVGRDLPVGLEELRQLELQVLTAHS
WREKASKTFLKKNSCYTLLEVLCPCADAGSDSTKRSRWMEKELGLYKSDTELLGLSAQDL
RDPGSVIVAFKEGEQKEKEGILQLRRTNSAKPSPLASSSTASSTTSICVCGQVLAGAGAL
QCDLCQDWFHGRCVSVPRLLSSPRPNPTSSPLLAWWEWDTKFLCPLCMRSRRPRLETILA
LLVALQRLPVRLPEGEALQCLTERAISWQGRARQALASEDVTALLGRLAELRQRLQAEPR
PEEPPNYPAAPASDPLREGSGKDMPKVQGLLENGDSVTSPEKVAPEEGSGKRDLELLSSL
LPQLTGPVLELPEATRAPLEELMMEGDLLEVTLDENHSIWQLLQAGQPPDLERIRTLLEL
EKAERHGSRARGRALERRRRRKVDRGGEGDDPAREELEPKRVRSSGPEAEEVQEEEELEE
ETGGEGPPAPIPTTGSPSTQENQNGLEPAEGTTSGPSAPFSTLTPRLHLPCPQQPPQQQL

Sequence length

1560

Interactions

View interactions

	Reactome
			HDMs demethylate histones

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental disorder	Pathogenic	rs1135401800	RCV003126757	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirsutism	Likely pathogenic	rs1934728804	RCV001261287	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs878853141, rs878853151, rs1602226289, rs2073044253, rs2073528836, rs2073534632, rs1934728804	RCV000224884 RCV000224502 RCV001004012 RCV001257746 RCV001257751 RCV001257749 RCV001261287 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KDM5C-related disorder	Likely pathogenic	rs2519515591	RCV003402128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1602247047	RCV000984096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Pathogenic	rs1602163752	RCV001256997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2146867849, rs2146868820, rs2146853021, rs2146921497, rs1569278313, rs2146828842, rs2146837810, rs2146851322, rs2519442933, rs2519443119, rs2519380176, rs2519380755, rs2519399940, rs2519541632, rs2519509156 View all (10 more)	RCV001378953 RCV001922033 RCV001900167 RCV001950858 RCV001865134 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndromic X-linked intellectual disability Claes-Jensen type	Pathogenic; Likely pathogenic	rs1934751829, rs2073151214, rs2146978491, rs2146852767, rs2146868023, rs2146961698, rs2146919819, rs2146914735, rs146232504, rs2146844343, rs2146915737, rs587780372, rs2146837810, rs2146867887, rs2146978931 View all (52 more)	RCV001336648 RCV001528138 RCV002246412 RCV001579306 RCV001754539 View all (63 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs782663655, rs886041855, rs2519396147, rs1408778179	RCV005895443 RCV005895483 RCV005934642 RCV005934997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KDM5C-related X-linked syndromic intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Smith-Magenis Syndrome-like	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked syndromic intellectual disability	Uncertain significance	ClinVar ClinGen, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (124)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	21248752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34530748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34089235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18203167, 30902578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18203167, 18814864, 29670509, 31087518		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18203167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26182878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33977073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33977073	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20054297, 23036577, 23644518, 24029645, 25124064, 26484545, 26527083, 27556922, 28408295, 28779136, 29132830, 29754934, 30622286, 34439859, 35444164, 39672382 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	25666757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	21575681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21575681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	36672956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30257334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30018131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21725364, 22949125, 23644518, 24029645, 24166983, 25124064, 26484545, 26551685, 27556922, 28408295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26059843, 34530748, 36434256, 36536324, 36553533, 39900177	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	18697827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15586325, 16541399, 17320160, 17468742, 18203167, 18697827, 19826449, 23999528, 24583395, 25666439, 26919706, 27421841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17468742, 23246292, 25652354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	18697827, 26919706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	36672956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	29456765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	34089235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36142158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	18203167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	18697827, 26919706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	18697827, 21575681, 34530748, 36434256, 36536324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34089235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23872847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	34530748, 40346491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	36434256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GENOMICS_ENGLAND_DG	18697827, 26919706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36142158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18203167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	15586325, 18697827, 20538609, 21575681, 23356856, 25649377, 25666439, 29456765, 34089235, 34530748, 36434256, 36495919, 36553533, 39900177, 40346491	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	16538222, 18814864, 21575681, 22326837, 23246292, 24583395, 25167861, 25666439, 25858702, 29670509, 30902578, 31419599, 31691806		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	LHGDN	18697827		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	18697827, 26919706		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	21076407		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Failure Chronic	Kidney failure	Pubtator	23036577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	21575681, 36536324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	34530748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	34530748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29253671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26503415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26182878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	26551685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30921702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26858085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26551685, 29339538, 30257334, 30522514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30257334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29975213		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	26240495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21076407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16538222, 18814864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	15586325, 1605217, 16538222, 16541399, 17468742, 18697827, 26182878, 26580603, 30522514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	16538222, 16541399, 17320160, 17468742		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	Mental retardation	GENOMICS_ENGLAND_DG	10982473, 18697827, 26919706		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	Mental retardation	ORPHANET_DG	15586325		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	Mental retardation	UNIPROT_DG	15586325, 16538222, 16541399, 17320160, 17468742, 23356856, 25666439		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	Mental retardation	CLINVAR_DG	23356856		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	Mental retardation	BEFREE	29670509		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	36536324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	36672956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15586325, 16541399, 17320160, 17468742, 18203167, 18697827, 19826449, 23999528, 24583395, 25666439, 26919706, 27421841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	34530748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21725364, 26484545, 30622286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26059843, 31691806		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36434256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	CLINGEN_DG	15586325, 18697827, 26804915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	18203167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21076407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30921702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25016185, 37209920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30921702	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	36434256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	26551685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30030490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	18697827, 34530748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	25858702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	22326837, 25666439		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26858085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26858085	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndromic X-linked intellectual disability due to JARID1C mutation	Syndromic Mental Retardation, X-Linked	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes Calcaneovarus	Talipes calcaneovalgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

KDM5C (lysine demethylase 5C)