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

Show/Hide all (43)

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

600

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental disorder	Pathogenic	rs1135401800	RCV003126757
Hirsutism	Likely pathogenic	rs1934728804	RCV001261287
Intellectual disability	Pathogenic; Likely pathogenic	rs878853141, rs878853151, rs1602226289, rs2073044253, rs2073528836, rs2073534632, rs1934728804	RCV000224884 RCV000224502 RCV001004012 RCV001257746 RCV001257751 RCV001257749 RCV001261287
KDM5C-related disorder	Likely pathogenic	rs2519515591	RCV003402128
Multiple myeloma	Likely pathogenic	rs1602247047	RCV000984096
Rare genetic intellectual disability	Pathogenic	rs1602163752	RCV001256997
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 RCV002035509 RCV001946617 RCV003750884 RCV002776596 RCV002858396 RCV002908833 RCV003048538 RCV003588958 RCV003590129 RCV003751924 RCV003752081 RCV003752042 RCV003827612 RCV000794328 RCV003750810 RCV000702291 RCV002536875 RCV001860598 RCV001880137 RCV001385106
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 RCV001754556 RCV001771805 RCV001775346 RCV001814947 RCV001814956 RCV001822081 RCV000117381 RCV003223431 RCV002074454 RCV002226962 RCV002250071 RCV002250073 RCV002251693 RCV002272654 RCV002273005 RCV002288358 RCV002289458 RCV002291090 RCV002468725 RCV002472148 RCV000193813 RCV003128092 RCV003128103 RCV003149125 RCV000010426 RCV000010427 RCV000010428 RCV000010429 RCV000010430 RCV000010431 RCV000010432 RCV000240657 RCV003313323 RCV003328725 RCV003330139 RCV004796832 RCV003881682 RCV004018046 RCV004560459 RCV000414804 RCV000417058 RCV000449524 RCV000022890 RCV000022891 RCV000495865 RCV000496186 RCV004594079 RCV000623905 RCV000677733 RCV000760238 RCV000760210 RCV000760231 RCV000785977 RCV000824879 RCV000824878 RCV000851518 RCV001004874 RCV004732491 RCV001078174 RCV001249624 RCV003883170 RCV001262396 RCV006449389
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs782663655, rs886041855, rs2519396147, rs1408778179	RCV005895443 RCV005895483 RCV005934642 RCV005934997

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign; Likely benign	rs139569882	RCV005886456
Gastric cancer	-	rs782406365	RCV005931091
Hepatocellular carcinoma	Benign; Likely benign	rs139569882	RCV005886457
KDM5C-related X-linked syndromic intellectual disability	Uncertain significance	rs2146815827	RCV001563666
Melanoma	Conflicting classifications of pathogenicity	rs782426227	RCV005901136
Neurodevelopmental disorder	Uncertain significance	rs2146844967	RCV001780044
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	rs2146822099, rs2073736194	RCV005912819 RCV005930187
See cases	Uncertain significance	rs782577718	RCV003232956
Smith-Magenis Syndrome-like	Conflicting classifications of pathogenicity	rs782367133	RCV000491675
X-linked syndromic intellectual disability	Uncertain significance	rs369353279	RCV005429057

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	25078331
Ataxia	Associate	34530748
Autism Spectrum Disorder	Associate	34089235
Axenfeld Rieger syndrome	Associate	36672956
Body Dysmorphic Disorders	Associate	40346491
Breast Neoplasms	Associate	33977073
Carcinogenesis	Stimulate	33977073
Carcinoma Non Small Cell Lung	Associate	33953726
Carcinoma Renal Cell	Associate	20054297, 23036577, 23644518, 24029645, 25124064, 26484545, 26527083, 27556922, 28408295, 28779136, 29132830, 29754934, 30622286, 34439859, 35444164, 39672382 View all (1 more)
Clear cell metastatic renal cell carcinoma	Associate	27751729
Cleft Palate	Associate	21575681
Cognition Disorders	Associate	21575681
Coloboma	Associate	36672956
Colorectal Neoplasms	Associate	30018131
Death	Inhibit	28408295
Death	Stimulate	29132830
Developmental Disabilities	Associate	26059843, 34530748, 36434256, 36536324, 36553533, 39900177
Eye Diseases	Associate	36672956
Facial Dysmorphism with Multiple Malformations	Associate	29456765
Gastrointestinal Diseases	Associate	34089235
Genetic Diseases X Linked	Associate	36536324, 36553533
Glioblastoma	Associate	36142158
Growth Disorders	Associate	18697827, 21575681, 34530748, 36434256, 36536324
Hearing Loss	Associate	34089235
Hypersensitivity Delayed	Associate	34530748, 40346491
Hypertrichosis	Associate	36434256
Hypoxia	Associate	36142158
Hypoxia Brain	Associate	36142158
Intellectual Disability	Associate	15586325, 18697827, 20538609, 21575681, 23356856, 25649377, 25666439, 29456765, 34089235, 34530748, 36434256, 36495919, 36553533, 39900177, 40346491
Kidney Failure Chronic	Associate	23036577
Klinefelter Syndrome	Associate	32959501
Language Development Disorders	Associate	21575681, 36536324
Language Disorders	Associate	34530748
Learning Disabilities	Associate	34530748
Leukemia Myeloid Acute	Associate	29253671
Lubs X linked mental retardation syndrome	Associate	15586325
Lymphoma Large B Cell Diffuse	Associate	34928233
MASS syndrome	Associate	29132830
Meningioma	Associate	26240495
Mental Disorders	Associate	21575681, 39900177
Mental Retardation X Linked	Associate	15586325, 18697827, 19826449, 20346720, 26580603, 27696497, 36434256
Mental Retardation X Linked 1	Associate	40346491
Mental Retardation X Linked Nonsyndromic	Associate	15586325, 19826449
Mental Retardation X Linked Syndromic Jarid1c Related	Associate	26580603, 29456765, 36536324, 36553533, 40346491
Microcephaly	Associate	36536324
Microphthalmos	Associate	36672956
Movement Disorders	Associate	34530748
Multi centric Castleman's Disease	Associate	34431136
Muscle Spasticity	Associate	34530748
Neoplasms	Associate	22156295, 22397650, 23036577, 25124064, 26484545, 26858085, 27626165, 27869828, 28212566, 29132830, 30068733, 30416077, 30622286, 33953726, 33994165, 34580025, 36142158 View all (2 more)
Obesity	Associate	36434256
Partington X linked mental retardation syndrome	Associate	36536324
Pathological Conditions Anatomical	Associate	36434256
Pediatric acute onset neuropsychiatric syndrome	Associate	36553533
Personality Disorders	Associate	18697827
Peters anomaly	Associate	36672956
Pinealoma	Associate	27282397
Prostatic Neoplasms	Associate	25016185, 37209920
Prostatic Neoplasms	Stimulate	30921702
Prostatic Neoplasms Castration Resistant	Stimulate	30921702
Psychomotor Disorders	Associate	36434256
Reflex Abnormal	Associate	18697827
Renal Nutcracker Syndrome	Associate	24029645
Salivary Duct Calculi	Associate	31609094
Sclerocornea	Associate	36672956
Seizures	Associate	18697827, 34530748
Speech Disorders	Associate	36434256
Stomach Neoplasms	Stimulate	26858085

KDM5C (lysine demethylase 5C)