JMJD1C (jumonji domain containing 1C)

Gene

• Entrez ID: 221037
• Gene name: Jumonji domain containing 1C
• Gene symbol: JMJD1C
• Synonyms (NCBI Gene): KDM3C, TRIP-8, TRIP8
• Chromosome: 10
• Chromosome location: 10q21.3
• Summary: The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201696710	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs1589111139	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1589150589	CCATATCTTGTTTGATGATATGGCTTTTAGGACTGGAAGAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589170008	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589170028	ATTTAGTTTCTTTTCAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589629026	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051502	hsa-let-7e-5p	CLASH	23622248
MIRT051502	hsa-let-7e-5p	CLASH	23622248
MIRT043658	hsa-miR-326	CLASH	23622248
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT657099	hsa-miR-3662	HITS-CLIP	23824327
MIRT657098	hsa-miR-513b-3p	HITS-CLIP	23824327
MIRT657097	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT657096	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT657095	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT640085	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT640084	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT496228	hsa-miR-4485-5p	PAR-CLIP	22012620
MIRT496227	hsa-miR-6880-3p	PAR-CLIP	22012620
MIRT496226	hsa-miR-145-3p	PAR-CLIP	22012620
MIRT496225	hsa-miR-4297	PAR-CLIP	22012620
MIRT496224	hsa-miR-5581-5p	PAR-CLIP	22012620
MIRT496223	hsa-miR-6084	PAR-CLIP	22012620
MIRT496222	hsa-miR-587	PAR-CLIP	22012620
MIRT496221	hsa-miR-718	PAR-CLIP	22012620
MIRT536574	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT536573	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT536572	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT536571	hsa-miR-23c	PAR-CLIP	22012620
MIRT536570	hsa-miR-548n	PAR-CLIP	22012620
MIRT536569	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536568	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536567	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT536566	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT536565	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT536564	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT536563	hsa-miR-208a-5p	PAR-CLIP	22012620
MIRT536562	hsa-miR-208b-5p	PAR-CLIP	22012620
MIRT536561	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT536560	hsa-miR-5579-3p	PAR-CLIP	22012620
MIRT536559	hsa-miR-2681-5p	PAR-CLIP	22012620
MIRT496228	hsa-miR-4485-5p	PAR-CLIP	22291592
MIRT496227	hsa-miR-6880-3p	PAR-CLIP	22291592
MIRT496226	hsa-miR-145-3p	PAR-CLIP	22291592
MIRT496225	hsa-miR-4297	PAR-CLIP	22291592
MIRT496224	hsa-miR-5581-5p	PAR-CLIP	22291592
MIRT496223	hsa-miR-6084	PAR-CLIP	22291592
MIRT496222	hsa-miR-587	PAR-CLIP	22291592
MIRT496221	hsa-miR-718	PAR-CLIP	22291592
MIRT440413	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT440413	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT657099	hsa-miR-3662	HITS-CLIP	23824327
MIRT657098	hsa-miR-513b-3p	HITS-CLIP	23824327
MIRT657097	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT657096	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT657095	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT640085	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT640084	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT640083	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT640082	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640081	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT640080	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT640079	hsa-miR-8081	HITS-CLIP	23824327
MIRT496228	hsa-miR-4485-5p	PAR-CLIP	22012620
MIRT496227	hsa-miR-6880-3p	PAR-CLIP	22012620
MIRT496226	hsa-miR-145-3p	PAR-CLIP	22012620
MIRT496225	hsa-miR-4297	PAR-CLIP	22012620
MIRT496224	hsa-miR-5581-5p	PAR-CLIP	22012620
MIRT496223	hsa-miR-6084	PAR-CLIP	22012620
MIRT496222	hsa-miR-587	PAR-CLIP	22012620
MIRT496221	hsa-miR-718	PAR-CLIP	22012620
MIRT536574	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT536573	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT536572	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT536571	hsa-miR-23c	PAR-CLIP	22012620
MIRT536570	hsa-miR-548n	PAR-CLIP	22012620
MIRT536569	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536568	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536567	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT536566	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT536565	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT536564	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT536563	hsa-miR-208a-5p	PAR-CLIP	22012620
MIRT536562	hsa-miR-208b-5p	PAR-CLIP	22012620
MIRT536561	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT536560	hsa-miR-5579-3p	PAR-CLIP	22012620
MIRT536559	hsa-miR-2681-5p	PAR-CLIP	22012620
MIRT496228	hsa-miR-4485-5p	PAR-CLIP	22291592
MIRT496227	hsa-miR-6880-3p	PAR-CLIP	22291592
MIRT496226	hsa-miR-145-3p	PAR-CLIP	22291592
MIRT496225	hsa-miR-4297	PAR-CLIP	22291592
MIRT496224	hsa-miR-5581-5p	PAR-CLIP	22291592
MIRT496223	hsa-miR-6084	PAR-CLIP	22291592
MIRT496222	hsa-miR-587	PAR-CLIP	22291592
MIRT496221	hsa-miR-718	PAR-CLIP	22291592
MIRT1076838	hsa-miR-1229	CLIP-seq
MIRT1076839	hsa-miR-127-5p	CLIP-seq
MIRT1076840	hsa-miR-128	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076842	hsa-miR-23a	CLIP-seq
MIRT1076843	hsa-miR-23b	CLIP-seq
MIRT1076844	hsa-miR-27a	CLIP-seq
MIRT1076845	hsa-miR-27b	CLIP-seq
MIRT1076846	hsa-miR-3074-3p	CLIP-seq
MIRT1076847	hsa-miR-342-3p	CLIP-seq
MIRT1076848	hsa-miR-3606	CLIP-seq
MIRT1076849	hsa-miR-3657	CLIP-seq
MIRT1076850	hsa-miR-3974	CLIP-seq
MIRT1076851	hsa-miR-4291	CLIP-seq
MIRT1076852	hsa-miR-4302	CLIP-seq
MIRT1076853	hsa-miR-4669	CLIP-seq
MIRT1076854	hsa-miR-4697-3p	CLIP-seq
MIRT1076855	hsa-miR-4742-5p	CLIP-seq
MIRT1076856	hsa-miR-4761-5p	CLIP-seq
MIRT1076857	hsa-miR-4775	CLIP-seq
MIRT1076858	hsa-miR-545	CLIP-seq
MIRT1076859	hsa-miR-548g	CLIP-seq
MIRT1076860	hsa-miR-592	CLIP-seq
MIRT1076861	hsa-miR-599	CLIP-seq
MIRT1076862	hsa-miR-624	CLIP-seq
MIRT1076863	hsa-miR-648	CLIP-seq
MIRT1076864	hsa-miR-676	CLIP-seq
MIRT1076838	hsa-miR-1229	CLIP-seq
MIRT1076865	hsa-miR-1271	CLIP-seq
MIRT1076839	hsa-miR-127-5p	CLIP-seq
MIRT1076840	hsa-miR-128	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076866	hsa-miR-182	CLIP-seq
MIRT1076844	hsa-miR-27a	CLIP-seq
MIRT1076845	hsa-miR-27b	CLIP-seq
MIRT1076847	hsa-miR-342-3p	CLIP-seq
MIRT1076867	hsa-miR-34a	CLIP-seq
MIRT1076868	hsa-miR-34c-5p	CLIP-seq
MIRT1076848	hsa-miR-3606	CLIP-seq
MIRT1076849	hsa-miR-3657	CLIP-seq
MIRT1076869	hsa-miR-3920	CLIP-seq
MIRT1076852	hsa-miR-4302	CLIP-seq
MIRT1076870	hsa-miR-449a	CLIP-seq
MIRT1076871	hsa-miR-449b	CLIP-seq
MIRT1076853	hsa-miR-4669	CLIP-seq
MIRT1076854	hsa-miR-4697-3p	CLIP-seq
MIRT1076872	hsa-miR-4762-3p	CLIP-seq
MIRT1076857	hsa-miR-4775	CLIP-seq
MIRT1076860	hsa-miR-592	CLIP-seq
MIRT1076861	hsa-miR-599	CLIP-seq
MIRT1076863	hsa-miR-648	CLIP-seq
MIRT1076864	hsa-miR-676	CLIP-seq
MIRT1076873	hsa-miR-944	CLIP-seq
MIRT1076874	hsa-miR-96	CLIP-seq
MIRT1076838	hsa-miR-1229	CLIP-seq
MIRT1076839	hsa-miR-127-5p	CLIP-seq
MIRT1076840	hsa-miR-128	CLIP-seq
MIRT1076844	hsa-miR-27a	CLIP-seq
MIRT1076845	hsa-miR-27b	CLIP-seq
MIRT1076847	hsa-miR-342-3p	CLIP-seq
MIRT1076854	hsa-miR-4697-3p	CLIP-seq
MIRT1076860	hsa-miR-592	CLIP-seq
MIRT1076861	hsa-miR-599	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076842	hsa-miR-23a	CLIP-seq
MIRT1076843	hsa-miR-23b	CLIP-seq
MIRT2251044	hsa-miR-3065-5p	CLIP-seq
MIRT1076850	hsa-miR-3974	CLIP-seq
MIRT1076851	hsa-miR-4291	CLIP-seq
MIRT1076855	hsa-miR-4742-5p	CLIP-seq
MIRT1076858	hsa-miR-545	CLIP-seq
MIRT1076862	hsa-miR-624	CLIP-seq
MIRT1076846	hsa-miR-3074-3p	CLIP-seq
MIRT1076854	hsa-miR-4697-3p	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076846	hsa-miR-3074-3p	CLIP-seq
MIRT1076848	hsa-miR-3606	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076846	hsa-miR-3074-3p	CLIP-seq
MIRT1076848	hsa-miR-3606	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076842	hsa-miR-23a	CLIP-seq
MIRT1076843	hsa-miR-23b	CLIP-seq
MIRT2251044	hsa-miR-3065-5p	CLIP-seq
MIRT1076846	hsa-miR-3074-3p	CLIP-seq
MIRT2554468	hsa-miR-338-5p	CLIP-seq
MIRT1076848	hsa-miR-3606	CLIP-seq
MIRT1076850	hsa-miR-3974	CLIP-seq
MIRT2554469	hsa-miR-4307	CLIP-seq
MIRT1076857	hsa-miR-4775	CLIP-seq
MIRT2554470	hsa-miR-499-3p	CLIP-seq
MIRT2554471	hsa-miR-499a-3p	CLIP-seq
MIRT1076859	hsa-miR-548g	CLIP-seq
MIRT1076862	hsa-miR-624	CLIP-seq
MIRT1076841	hsa-miR-142-3p	CLIP-seq
MIRT1076842	hsa-miR-23a	CLIP-seq
MIRT1076843	hsa-miR-23b	CLIP-seq
MIRT1076846	hsa-miR-3074-3p	CLIP-seq
MIRT1076848	hsa-miR-3606	CLIP-seq
MIRT1076850	hsa-miR-3974	CLIP-seq
MIRT2554469	hsa-miR-4307	CLIP-seq
MIRT2683109	hsa-miR-4325	CLIP-seq
MIRT1076857	hsa-miR-4775	CLIP-seq
MIRT2683110	hsa-miR-495	CLIP-seq
MIRT1076859	hsa-miR-548g	CLIP-seq
MIRT1076862	hsa-miR-624	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IBA
GO:0000785	Component	Chromatin	IBA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0005515	Function	Protein binding	IPI	17353003, 33640491
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7776974
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007596	Process	Blood coagulation	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0032454	Function	Histone H3K9 demethylase activity	IBA
GO:0032454	Function	Histone H3K9 demethylase activity	IEA
GO:0032454	Function	Histone H3K9 demethylase activity	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0046966	Function	Nuclear thyroid hormone receptor binding	TAS	7776974
GO:0051213	Function	Dioxygenase activity	IEA

Other IDs

• MIM: 604503
• HGNC: 12313
• e!Ensembl: ENSG00000171988

Protein

• UniProt ID: Q15652
• Protein name: Probable JmjC domain-containing histone demethylation protein 2C (EC 1.14.11.-) (Jumonji domain-containing protein 1C) (Thyroid receptor-interacting protein 8) (TR-interacting protein 8) (TRIP-8)
• Protein function: Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcript
• PDB: 2YPD, 5FZO, 9GDK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02373	JmjC	2381 → 2481	JmjC domain, hydroxylase	Domain

• Sequence:

  MAVETRAELVGKRFLCVAVGDEARSERWESGRGWRSWRAGVIRAVSHRDSRNPDLAVYVE
  FDDLEWDKREWVKVYEDFSTFLVEYHLIWAKRNDPSQTQGSKSKQIQWPALTFKPLVERN
  IPSSVTAVEFLVDKQLDFLTEDSAFQPYQDDIDSLNPVLRDNPQLHEEVKVWVKEQKVQE
  IFMQGPYSLNGYRVRVYRQDSATQWFTGIITHHDLFTRTMIVMNDQVLEPQNVDPSMVQM
  TFLDDVVHSLLKGENIGITSRRRSRANQNVNAVHSHYTRAQANSPRPAMNSQAAVPKQNT
  HQQQQQRSIRPNKRKGSDSSIPDEEKMKEEKYDYISRGENPKGKNKHLMNKRRKPEEDEK
  KLNMKRLRTDNVSDFSESSDSENSNKRIIDNSSEQKPENELKNKNTSKINGEEGKPHNNE
  KAGEETLKNSQPPWDQIQEDKKHEEAEKRKSVDTQLQEDMIIHSSEQSTVSDHNSNDLLP
  QECNMDKTHTMELLPKEKFVSRPPTPKCVIDITNDTNLEKVAQENSSTFGLQTLQKMDPN
  VSDSKHSIANAKFLETAKKDSDQSWVSDVVKVDLTQSSVTNASSGNDHLNMEKEKYVSYI
  SPLSAVSVMEDKLHKRSPPPETIKSKLNTSVDTHKIKSSPSPEVVKPKITHSPDSVKSKA
  TYVNSQATGERRLANKIEHELSRCSFHPIPTRSSTLETTKSPLIIDKNEHFTVYRDPALI
  GSETGANHISPFLSQHPFPLHSSSHRTCLNPGTHHPALTPAPHLLAGSSSQTPLPTINTH
  PLTSGPHHAVHHPHLLPTVLPGVPTASLLGGHPRLESAHASSLSHLALAHQQQQQLLQHQ
  SPHLLGQAHPSASYNQLGLYPIIWQYPNGTHAYSGLGLPSSKWVHPENAVNAEASLRRNS
  PSPWLHQPTPVTSADGIGLLSHIPVRPSSAEPHRPLKITAHSSPPLTKTLVDHHKEELER
  KAFMEPLRSVASTSAKNDLDLNRSQTGKDCHLHRHFVDPVLNQLQRPPQETGERLNKYKE
  EHRRILQESIDVAPFTTKIKGLEGERENYSRVASSSSSPKSHIIKQDMDVERSVSDLYKM
  KHSVPQSLPQSNYFTTLSNSVVNEPPRSYPSKEVSNIYGDKQSNALAAAAANPQTLTSFI
  TSLSKPPPLIKHQPESEGLVGKIPEHLPHQIASHSVTTFRNDCRSPTHLTVSSTNTLRSM
  PALHRAPVFHPPIHHSLERKEGSYSSLSPPTLTPVMPVNAGGKVQESQKPPTLIPEPKDS
  QANFKSSSEQSLTEMWRPNNNLSKEKTEWHVEKSSGKLQAAMASVIVRPSSSTKTDSMPA
  MQLASKDRVSERSSAGAHKTDCLKLAEAGETGRIILPNVNSDSVHTKSEKNFQAVSQGSV
  PSSVMSAVNTMCNTKTDVITSAADTTSVSSWGGSEVISSLSNTILASTSSECVSSKSVSQ
  PVAQKQECKVSTTAPVTLASSKTGSVVQPSSGFSGTTDFIHLKKHKAALAAAQYKSSNAS
  ETEPNAIKNQTLSASLPLDSTVICSTINKANSVGNGQASQTSQPNYHTKLKKAWLTRHSE
  EDKNTNKMENSGNSVSEIIKPCSVNLIASTSSDIQNSVDSKIIVDKYVKDDKVNRRKAKR
  TYESGSESGDSDESESKSEQRTKRQPKPTYKKKQNDLQKRKGEIEEDLKPNGVLSRSAKE
  RSKLKLQSNSNTGIPRSVLKDWRKVKKLKQTGESFLQDDSCCEIGPNLQKCRECRLIRSK
  KGEEPAHSPVFCRFYYFRRLSFSKNGVVRIDGFSSPDQYDDEAMSLWTHENFEDDELDIE
  TSKYILDIIGDKFCQLVTSEKTALSWVKKDAKIAWKRAVRGVREMCDACEATLFNIHWVC
  QKCGFVVCLDCYKAKERKSSRDKELYAWMKCVKGQPHDHKHLMPTQIIPGSVLTDLLDAM
  HTLREKYGIKSHCHCTNKQNLQVGNFPTMNGVSQVLQNVLNHSNKISLCMPESQQQNTPP
  KSEKNGGSSPESDVGTDNKLTPPESQSPLHWLADLAEQKAREEKKENKELTLENQIKEER
  EQDNSESPNGRTSPLVSQNNEQGSTLRDLLTTTAGKLRVGSTDAGIAFAPVYSMGAPSSK
  SGRTMPNILDDIIASVVENKIPPSKTSKINVKPELKEEPEESIISAVDENNKLYSDIPHS
  WICEKHILWLKDYKNSSNWKLFKECWKQGQPAVVSGVHKKMNISLWKAESISLDFGDHQA
  DLLNCKDSIISNANVKEFWDGFEEVSKRQKNKSGETVVLKLKDWPSGEDFKTMMPARYED
  LLKSLPLPEYCNPEGKFNLASHLPGFFVRPDLGPRLCSAYGVVAAKDHDIGTTNLHIEVS
  DVVNILVYVGIAKGNGILSKAGILKKFEEEDLDDILRKRLKDSSEIPGALWHIYAGKDVD
  KIREFLQKISKEQGLEVLPEHDPIRDQSWYVNKKLRQRLLEEYGVRTCTLIQFLGDAIVL
  PAGALHQVQNFHSCIQVTEDFVSPEHLVESFHLTQELRLLKEEINYDDKLQVKNILYHAV
  KEMVRALKIHEDEVEDMEEN

• Sequence length: 2540

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

Factors involved in megakaryocyte development and platelet production

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autism spectrum disorder	association	rs1848103102	RCV001291388
Benign familial infantile epilepsy	Conflicting classifications of pathogenicity	rs1847769670	RCV001808939
Cervical cancer	Benign	rs79059103	RCV005901352
Cholangiocarcinoma	Benign	rs41274074	RCV005901349
Early myoclonic encephalopathy	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs773110764, rs1842989009, rs76935733, rs754646716, rs570457493, rs376099176, rs749176745, rs1845901209, rs757141296, rs747823940, rs1846706626, rs757369821, rs768095137, rs750792303, rs1846836458, rs1564608658, rs1846875074, rs1846939879, rs1191109718, rs759962379, rs562218545, rs1847815193, rs555528858, rs761317571, rs377618960, rs1855320026, rs542090671, rs1473714251, rs751636933, rs777189076, rs368678718, rs746895316, rs1040108326, rs763592727, rs752775581, rs1049222747, rs939955592, rs376317959, rs1473794674, rs1011744561, rs752446740, rs1846698306, rs1407847287, rs1846743129, rs764296172, rs758453317, rs1846777353, rs1846801051, rs1846802882, rs1846809888, rs1422090752, rs1237216547, rs1846855738, rs369251939, rs201744571, rs759583553, rs1846938328, rs1296464432, rs1847662769, rs558454053, rs774913781, rs374685297, rs1847721402, rs751103385, rs201464655, rs753082253, rs1847768394, rs1847798734, rs1001168522, rs369561675, rs754412264, rs2132806240, rs375772458, rs140575344, rs748990512, rs201896088, rs2133012137, rs2133023822, rs1275521352, rs1243654890, rs199703728, rs1589145101, rs745783138, rs2133143146, rs1259458966, rs1360350002, rs1234215500, rs924106174, rs756816527, rs1051600051, rs773344012, rs748085239, rs776050827, rs750652301, rs777100792, rs1279342375, rs765022454, rs779543350, rs1334536056, rs200925734, rs569430257, rs767833843, rs751544950, rs554677554, rs746334497, rs1305916162, rs1326857785, rs778857216, rs1353410484, rs745857621, rs1212974906, rs760726872, rs981695480, rs2133275184, rs781497575, rs766502930, rs1230119535, rs1337629053, rs371366450, rs981353505, rs752659477, rs2133064888, rs747051989, rs1163608474, rs759459088, rs761401207, rs1247014343, rs777062654, rs764321670, rs547928999, rs374137055, rs1273669583, rs377124953, rs1847632833, rs748292789, rs753603959, rs377508666, rs1189516728, rs905639606, rs2134500737, rs1452187493, rs2133123479, rs2133124257, rs374905392, rs370256419, rs1342898465, rs1349303677, rs755368944, rs1845073177, rs1845896422, rs1396013090, rs775248033, rs753472329, rs369575747, rs2133149325, rs761026917, rs2133151362, rs978230070, rs917044261, rs1846856432, rs746245595, rs1461358577, rs139734770, rs774670652, rs1447114427, rs1459771179, rs1280256287, rs2133231395, rs367929683, rs1847868976, rs758501752, rs368431973, rs1346112475, rs1332989506, rs2132900386, rs891610063, rs1054058537, rs372436233, rs755721303, rs1295225795, rs747909955, rs372791018, rs781064752, rs1846680996, rs577263592, rs753924601, rs765585678, rs1846860660, rs1208322503, rs2133159675, rs761151454, rs1846968833, rs368708436, rs2133212868, rs753409956, rs1166585010, rs751979712, rs2133224175, rs777623084, rs879419570, rs750072663, rs1842049722, rs2132884633, rs760036423, rs377626799, rs1034862088, rs770639668, rs1845078415, rs762282212, rs1845584584, rs773956806, rs2133081764, rs978953712, rs2133143968, rs2133145061, rs190438301, rs2133145980, rs188520171, rs762447170, rs2133153790, rs1224169270, rs377625005, rs753417322, rs1589152618, rs537938353, rs2133215902, rs200874068, rs2133223729, rs375059867, rs1847826247, rs1847845891, rs2133231004, rs61745579, rs757185251, rs1447328277, rs2133123441, rs766418169, rs1935, rs3211105, rs376902848, rs544671297, rs567705184, rs544719834, rs548304608, rs1904294, rs751482085, rs568159160, rs553346839, rs373568855, rs755118052, rs10761725, rs750958010, rs758235168, rs770502308, rs1061259, rs10761770, rs1451725739, rs1847769670, rs779931368, rs1157995731, rs2132821019, rs1295182226, rs2133222974, rs1554837183, rs895843366, rs1450486764, rs2133146847, rs1225775960, rs529610837, rs746837241, rs1404794797, rs2133153760, rs745565258, rs2133215948, rs770143068, rs1177783876, rs2133156877, rs2132954857, rs763363754, rs1032836369, rs2133055232, rs2133249646, rs543131872, rs2133216015, rs763499705, rs2133144700, rs1297914375, rs763383360, rs758060444, rs1846841222, rs1846914421, rs1845586240, rs1241903352, rs2133122817, rs1300548130, rs369773366, rs1361358487, rs79181358, rs753421740, rs776963001, rs374367132, rs2132977539, rs1324107210, rs774811837, rs577522842, rs201878027, rs1846714784, rs1842048692, rs2133007696, rs749335937, rs1337251415, rs1315093105, rs769751911, rs748591584, rs1564606174, rs562569205, rs796695209, rs749418791, rs1843909414, rs780059054, rs2133023533, rs887483612, rs752937702, rs371983340, rs2133164933, rs762134268, rs2133142090, rs971091240, rs1333266156, rs1847776331, rs755958417, rs773649145, rs1846844856, rs2133225076, rs2133164086, rs751861560, rs2133215232, rs2133168275, rs2133217608, rs2133151720, rs2133232218, rs914735026, rs375419932, rs2132914885, rs1330261561, rs374798349, rs1845692836, rs747979653, rs569189225, rs2132914778, rs2132900164, rs763180095, rs779521920, rs199920148, rs758192946, rs775051175, rs1354865945, rs2133144495, rs769904055, rs377123420, rs763838753, rs142145484, rs2133220433, rs199894001, rs2133006517, rs2133212088, rs748928858, rs1361787535, rs376656512, rs1844490748, rs764269914, rs2133006564, rs2133123207, rs370772472, rs375459573, rs749119959, rs375031134, rs2132952513, rs2133146821, rs760034491, rs1470102272, rs2133011274, rs997381793, rs2133162604, rs1434473180, rs1192435231, rs2132900042, rs753964728, rs941064607, rs780054796, rs1161779692, rs1564619004, rs2133164464, rs374811978, rs1361979736, rs2492675745, rs2492700706, rs2492663285, rs2492525668, rs2492686529, rs1845581942, rs61758116, rs1347167217, rs2492526247, rs779490648, rs1418619816, rs1847671786, rs2492783165, rs768815064, rs772773150, rs1020421317, rs778541156, rs760388794, rs541773768, rs1311396036, rs765734065, rs780696924, rs2492682387, rs758559785, rs747878554, rs969730431, rs749582418, rs993882922, rs771184488, rs1474835524, rs1201051555, rs892618042, rs542426858, rs973036563, rs1368301451, rs753631920, rs2492566707, rs1480443114, rs746011906, rs775829102, rs764821897, rs769562971, rs748676870, rs370544199, rs377235253, rs372675445, rs770888752, rs770302374, rs1564609292, rs775733594, rs909078322, rs2132953313, rs992093298, rs2492686237, rs1375930091, rs772465112, rs1273224547, rs1843728636, rs1239754262, rs778557165, rs1844472148, rs1275073137, rs1366396136, rs2492400356, rs1253490105, rs1846721691, rs1185557659, rs775306924, rs1208194835, rs749401329, rs774095988, rs1046197494, rs2492764136, rs2493399397, rs1452127153, rs774072492, rs746935324, rs751378664, rs369080397, rs1449866057, rs1848420085, rs754451296, rs757313937, rs949456185, rs1269287771, rs190890554, rs2492690194, rs957068639, rs769669272, rs566751308, rs543852970, rs1846768515, rs2492135172, rs2492524675, rs2492768998, rs2492337350, rs2492695519, rs2492691997, rs773679387, rs2492787163, rs1846781453, rs777206872, rs2492399970, rs1436632489, rs368879650, rs775201710, rs778364614, rs754328604, rs1845201278, rs1847651732, rs2492801773, rs1336344646, rs756475530, rs370760675, rs1846803512, rs757473112, rs1183954793, rs2492133524, rs781226636, rs2492766268, rs756662482, rs747562302, rs41274064, rs370429971, rs370840996, rs369114735, rs752683638, rs1241769764, rs532717116, rs1847019059, rs2492701122, rs540514373, rs2492780330, rs2492663950, rs749532433, rs564408589, rs2492700557, rs2494242631, rs752495848, rs1393005345, rs761503841, rs767164202, rs1846677182, rs2492702475, rs2492799786, rs200686331, rs751766607, rs749117336, rs2492688984, rs2492681064, rs2492697963, rs2492686707, rs2492678652, rs1289143557, rs2492399934, rs2492856298, rs2492797495, rs1244673053, rs2492822459, rs2492127155, rs2492671195, rs761946497, rs757112869, rs778405940, rs1564619634, rs746691384, rs866120279, rs1847807335, rs751191855, rs778331836, rs2492823244, rs766449028, rs529645012, rs1846858288, rs1846891901, rs1221873874, rs2492769808, rs548904134, rs754073844, rs777547565, rs1395764087, rs201946125, rs1554836493, rs1422193136, rs2492788440, rs371203235, rs2492352941, rs2492790448, rs770246036, rs1370972420, rs1226263650, rs2492780645, rs774136204, rs760250621, rs1845898381, rs750024925, rs2492403089, rs1847624139, rs1480449866, rs750206185, rs2492676357, rs772774859, rs1846728407, rs747081047, rs766997659, rs2492542208, rs369168775, rs1269380261, rs769512909, rs768203310, rs2492803393, rs1238948649, rs2492678868, rs2492566608, rs774810703, rs940649961, rs2492398728, rs2492669714, rs931222342, rs2492708857, rs2492676597, rs781664751, rs2492770355, rs367650429, rs2492681230, rs2492690539, rs1846682014, rs1846934970, rs2492681891, rs1407179609, rs777403509, rs2492685946, rs2492662668, rs767519332, rs1312235864, rs752205873, rs767133115, rs1468167929, rs774865285, rs2492664869, rs2492542013, rs1187236787, rs2492354123, rs749593063, rs2494848764, rs2492761668, rs1424825937, rs2492772781, rs1172230193, rs2492671130, rs2492802732, rs2492802294, rs1429603659, rs2492352387, rs144839482, rs1044448083, rs2492541693, rs2492695497, rs375717203, rs1844114914, rs763839267, rs1027295642, rs1215361487, rs1177110238, rs1847671551, rs1846845422, rs2493400377, rs1947114744, rs2492768014, rs1162455756, rs2492782426, rs2492789471, rs893685867, rs375947355, rs771806473, rs2492661389, rs1030637355, rs1376845466, rs372034208, rs773011484, rs147444869, rs766849564, rs897181564, rs751449454, rs370845280, rs2492126143, rs755245590, rs1847857361, rs776828385, rs773039148, rs779755345, rs767932584, rs765000847, rs199812957, rs2494848547, rs760661716, rs1844475581, rs536935491, rs770030772, rs1479980345, rs758979265, rs749756834, rs1488289103, rs750493771, rs1438510127, rs998446145, rs1361604135, rs1461236186, rs1177208572, rs747348786, rs375290200, rs777607641, rs998562939, rs2492763274, rs1184623988, rs2494847325, rs1215196183, rs1846736699, rs2494242078, rs1405820119, rs768541846, rs751790887, rs777210479, rs1564588760, rs1157345246, rs1475852248, rs1589031822, rs915551254, rs771035963, rs2492697385, rs1414946704, rs1316297882, rs1844718876, rs753822479, rs773958030, rs1305952601, rs2492245926, rs1846652726, rs2492664615, rs1554833174, rs139881253, rs372806250, rs751756118, rs61758114, rs761363257, rs41274068, rs41274072, rs34037273, rs144745368, rs73290502, rs71508957, rs201787760, rs779803861, rs189704160, rs118024996, rs142996119, rs143894691, rs374157558, rs747004650, rs201696710, rs1414243223, rs1554840033, rs61757562, rs151186255, rs200016210, rs200728992, rs201497554, rs34798625, rs34353506, rs201112543, rs756992665, rs186321056, rs1554828044, rs79059103, rs750471016, rs1554829957, rs760860474, rs778255192, rs201627592, rs150646202, rs141981100, rs528244230, rs369156176, rs1237244107, rs1554841947, rs34491125, rs201800652, rs771233853, rs550649881, rs34825545, rs373686710, rs773232519, rs368296796, rs149833441, rs60227922, rs139078977, rs149889210, rs188760754, rs41274074, rs61758117, rs371173613, rs142118527, rs201514908, rs200644675, rs74138760, rs762875350, rs376454657, rs775487533, rs540558753, rs766251480, rs1441865798, rs772812493, rs1554831457, rs377385483, rs747127923, rs199536995, rs1554840969, rs1554829980, rs776725326, rs112116567, rs117647164, rs368298748, rs377459705, rs1007600942, rs905988373, rs139722368, rs200160728, rs1397945403, rs200418707, rs183692723, rs897135842, rs758488215, rs182663630, rs927398945, rs371819371, rs200242659, rs183013953, rs747375729, rs1564606985, rs1564608409, rs1419282048, rs1369753710, rs189118006, rs763576839, rs200769337, rs769777913, rs766701870, rs367831647, rs371435641, rs1564618479, rs1414572661, rs1564621588, rs1208957255, rs1311184859, rs200368807, rs766621656, rs746786140, rs1564621824, rs201371848, rs1373422263, rs1564539562, rs754194693, rs777955645, rs766414903, rs1399477479, rs758211612, rs1589053902, rs144459930, rs760630871, rs201653430, rs1365240152, rs1229349383, rs1589097262, rs531453499, rs1589111935, rs1589111995, rs779380226, rs1483008499, rs143177790, rs1349105037, rs1296593462, rs1589146405, rs371764552, rs762772056, rs148283530, rs1589146964, rs1328002548, rs1381439092, rs749463991, rs1589148092, rs200927709, rs777175851, rs773518308, rs762894410, rs746434432, rs377087649, rs1589149669, rs1589149816, rs745461131, rs773457572, rs1589152358, rs1589165050, rs1355338499, rs1589165326, rs753950177, rs1589166485, rs779543715, rs1589167629, rs771024987, rs755617043, rs756289752, rs1589169292, rs1456616934, rs770912020, rs772613741, rs753536688, rs200945568, rs777717621, rs202192474, rs192996860, rs372628812, rs529698959, rs199576131, rs370649422, rs766538443, rs371805077, rs190194717, rs559853876, rs201595819, rs369497646, rs759131369, rs200715648, rs193233064, rs186389187, rs201686311, rs200797706, rs145265323, rs745506808, rs138979462, rs200305143, rs757110706, rs185530790, rs1245334320, rs762973842, rs200143103, rs371113186, rs376805557, rs553383426, rs752100624, rs544692517, rs386744629, rs765785670, rs1589123712, rs759321451, rs752100806, rs1589149313, rs200897999, rs771978909, rs777440094, rs953345838, rs368307551, rs905897779, rs772405867, rs1253466513, rs374794763, rs376675037, rs1249369239, rs771859624, rs527526754, rs758339158, rs1338457130, rs368304419, rs754472073, rs767533800, rs1362411291, rs1589167462, rs375523280, rs1589169651, rs182143794, rs1589169860, rs761545891, rs561459877, rs778218913, rs555948242, rs774107583, rs372033085, rs1222236814, rs762369149, rs910216672, rs1589169670, rs1589189257, rs1589123853, rs201271782, rs1842051017, rs1842051759, rs1843732518, rs370493099, rs1844731045, rs1845014751, rs752843189, rs747743034, rs1004778606, rs1845035136, rs1845038703, rs773912495, rs372998437, rs188245456, rs372860458, rs370008380, rs201707452, rs1846670170, rs1846674389, rs775870728, rs756966644, rs376120047, rs774123043, rs754115401, rs751554397, rs1318617288, rs1028683855, rs769017713, rs1276147767, rs763922279, rs780738874, rs757312471, rs1486683352, rs1264412185, rs1421416607, rs758031280, rs749126634, rs373302701, rs1847649569, rs375070965, rs952697445, rs1847672584, rs778443308, rs1847733980, rs1006439536, rs1847744845, rs200836663, rs61758115, rs751789655, rs1847802823, rs914095191, rs1410366727, rs1460431975, rs370533547, rs1243327144, rs376167675, rs372823907, rs779787975, rs770157949, rs1855319432, rs1947120059, rs748149848, rs1953188817, rs1953194813, rs373355754, rs1350682924, rs750908745, rs1848101561, rs371070678, rs1444163213, rs746631132, rs540987742, rs1842993432, rs1843729684, rs549653106, rs1420221889, rs770904355, rs373554892, rs1846692104, rs368852030, rs1483418385, rs765394804, rs551938385, rs1846936284, rs1846944520, rs369312790, rs902996051, rs376361926, rs1268802352, rs1847660816, rs375902893, rs752736033, rs1847808580, rs1847830981, rs1848413281, rs752290836, rs952045291, rs1169735254, rs539218466, rs1195010483, rs1217362752, rs925641366, rs199608318, rs1313048220, rs370391950, rs750747925, rs1845589385, rs974108053, rs574610048, rs934299384, rs1846718907, rs768591010, rs1846781102, rs1453521404, rs183741384, rs757261672, rs368940089, rs767565217, rs570688428, rs200952020, rs1846951278, rs1372562048, rs746714956, rs1847669608, rs368602753, rs1204316263, rs1847728998, rs745649754, rs369760698, rs771832089, rs1250537353, rs1847890552, rs768268340, rs1953189825, rs1392568116, rs779638094, rs773278691, rs373934433, rs747616915, rs780505173, rs1845704702, rs765449355, rs754928152, rs1564607852, rs1846873544, rs897716327, rs1846913178, rs776243913, rs1466949975, rs1847020735, rs372956483, rs760376249, rs763508324, rs765302467, rs1847718295, rs1564621742, rs764882273, rs1479553153, rs1293472735, rs1847816499, rs929768765, rs773164099, rs536604028, rs375835104, rs760803766, rs909561888, rs368586997, rs1846945556, rs371370423, rs747991541, rs1847695957, rs764088702, rs1847743029, rs763376418, rs1847852382, rs576983326, rs770258446, rs773770549, rs532878838, rs1843729440, rs1177153983, rs750159796, rs768631769, rs991159102, rs1845025386, rs1004536209, rs1845696153, rs745678602, rs766770797, rs1846684838, rs1846763038, rs1846783383, rs1336237703, rs1846806848, rs1486531413, rs1846881039, rs78993293, rs761183826, rs1450318724, rs780003916, rs771784124, rs377284540, rs747581671, rs774751391, rs1304905784, rs1394505290, rs1847812723, rs1847826490, rs1847831425, rs757837342, rs765528980	RCV001324579 RCV001314700 RCV001325979 RCV001313904 RCV001321681 RCV001316205 RCV001326673 RCV001323918 RCV001320578 RCV001317617 RCV001325119 RCV001319421 RCV001319488 RCV001315556 RCV001324615 RCV001312885 RCV001318110 RCV001315954 RCV001326563 RCV001327652 RCV001320242 RCV001317589 RCV001314323 RCV001324619 RCV001323927 RCV001314619 RCV001323636 RCV001347228 RCV001347710 RCV001341492 RCV001337879 RCV001337384 RCV001343159 RCV001346134 RCV001350218 RCV001342902 RCV001352313 RCV001350125 RCV001351019 RCV001351652 RCV001337350 RCV001348572 RCV001349321 RCV001343824 RCV001347809 RCV001342738 RCV001345081 RCV001340386 RCV001343428 RCV001347613 RCV001341476 RCV001338095 RCV001342870 RCV001351881 RCV001352335 RCV001340122 RCV001349539 RCV001344888 RCV001339688 RCV001352077 RCV001343535 RCV001344865 RCV001337710 RCV001343337 RCV001339426 RCV001349528 RCV001349087 RCV001349945 RCV001343196 RCV001339528 RCV001340117 RCV001363837 RCV001372132 RCV001371128 RCV001366991 RCV001359044 RCV001372745 RCV001373400 RCV001362406 RCV001367122 RCV001366391 RCV001369565 RCV001371965 RCV001365467 RCV001370113 RCV001364353 RCV001370977 RCV001365937 RCV001368516 RCV001365560 RCV001368944 RCV001369961 RCV001362850 RCV001365050 RCV001362905 RCV001371773 RCV001373172 RCV001371453 RCV001369403 RCV001364655 RCV001367054 RCV001368811 RCV001362907 RCV001365808 RCV001372564 RCV001366582 RCV001360698 RCV001367803 RCV001369504 RCV001361014 RCV001364701 RCV001372915 RCV001370571 RCV001361601 RCV001366079 RCV001361609 RCV001417808 RCV001408478 RCV001415417 RCV001415924 RCV001411502 RCV001405243 RCV001401645 RCV001414683 RCV001391976 RCV001405221 RCV001413725 RCV001405372 RCV001418654 RCV001419538 RCV001406174 RCV001407803 RCV001394629 RCV001404319 RCV001408230 RCV001400147 RCV001403985 RCV001398581 RCV001394005 RCV001410085 RCV001409258 RCV001406298 RCV001411614 RCV001425059 RCV001427619 RCV001424890 RCV001444412 RCV001440330 RCV001448670 RCV001437927 RCV001421148 RCV001437364 RCV001437284 RCV001422874 RCV001427434 RCV001444214 RCV001424991 RCV001434926 RCV001444518 RCV001432938 RCV001430306 RCV001445570 RCV001446291 RCV001441736 RCV001443848 RCV001423656 RCV001430093 RCV001426276 RCV001439589 RCV001433384 RCV001425241 RCV001446655 RCV001442965 RCV001445529 RCV001462730 RCV001458117 RCV001459781 RCV001466500 RCV001467630 RCV001466808 RCV001461998 RCV001477058 RCV001475098 RCV001462259 RCV001451872 RCV001468813 RCV001470289 RCV001457389 RCV001455753 RCV001469086 RCV001477591 RCV001465077 RCV001476590 RCV001468078 RCV001456274 RCV001471224 RCV001473312 RCV001450816 RCV001471646 RCV001458533 RCV001463396 RCV001463607 RCV001481155 RCV001502071 RCV001493150 RCV001485376 RCV001485934 RCV001489817 RCV001501153 RCV001505402 RCV001489543 RCV001486908 RCV001505610 RCV001489710 RCV001503528 RCV001486325 RCV001494440 RCV001484047 RCV001497360 RCV001495832 RCV001479418 RCV001501649 RCV001501050 RCV001487881 RCV001489936 RCV001490819 RCV001491643 RCV001504525 RCV001506920 RCV001506714 RCV001498395 RCV001495633 RCV001506395 RCV001481306 RCV001487667 RCV001503217 RCV001483024 RCV001495978 RCV001517768 RCV001521835 RCV001512104 RCV001516660 RCV001510575 RCV001517214 RCV001523665 RCV001521836 RCV001512835 RCV001519612 RCV001516661 RCV001514737 RCV001514796 RCV001521837 RCV001516794 RCV001520045 RCV001522112 RCV001523372 RCV001511535 RCV003772165 RCV002541475 RCV001869630 RCV003600422 RCV002004354 RCV002024223 RCV002024247 RCV002046350 RCV002018928 RCV002013610 RCV001959366 RCV001872101 RCV001945133 RCV001907949 RCV001863884 RCV001871370 RCV001965493 RCV001961388 RCV001973253 RCV001964171 RCV002029863 RCV002029899 RCV001911104 RCV001975699 RCV001881887 RCV001958453 RCV001901994 RCV001951965 RCV002002184 RCV002017297 RCV001916637 RCV001912196 RCV001899113 RCV002048611 RCV002044710 RCV001915752 RCV001915871 RCV001929193 RCV001894833 RCV001887461 RCV001892332 RCV001917310 RCV001884646 RCV001894536 RCV001877233 RCV001922536 RCV002022019 RCV001984917 RCV001978551 RCV001978583 RCV001939965 RCV001999533 RCV001921784 RCV001995677 RCV002049766 RCV001907967 RCV001873087 RCV002040741 RCV001989165 RCV001895623 RCV001895668 RCV001986629 RCV001925977 RCV001970518 RCV001991350 RCV001995837 RCV001995999 RCV002001161 RCV002026092 RCV001904610 RCV001908162 RCV002048378 RCV002035636 RCV001999432 RCV001891177 RCV002003781 RCV001895262 RCV002015975 RCV002016028 RCV001912363 RCV001988523 RCV002048514 RCV001986345 RCV001964985 RCV001981099 RCV002153238 RCV002088181 RCV002127383 RCV002170752 RCV002123279 RCV002165805 RCV002197337 RCV002197445 RCV002175701 RCV002152947 RCV002192425 RCV002180471 RCV002146014 RCV002176406 RCV002137224 RCV002188216 RCV002136332 RCV002094915 RCV002217065 RCV002152432 RCV002215946 RCV002175537 RCV002183656 RCV002098993 RCV002099075 RCV002079788 RCV002145560 RCV002083575 RCV002193845 RCV002164549 RCV002199935 RCV002157091 RCV002093507 RCV002093513 RCV002099670 RCV002181138 RCV002116082 RCV002081742 RCV002159137 RCV002204313 RCV002167181 RCV002117412 RCV002191957 RCV002218510 RCV002085580 RCV002183971 RCV002217441 RCV002077960 RCV002072888 RCV002206232 RCV002114935 RCV002139624 RCV002078833 RCV002156105 RCV002156122 RCV002084666 RCV003093981 RCV002297767 RCV002297797 RCV002304819 RCV002300399 RCV002297653 RCV002300179 RCV002303042 RCV002299137 RCV002299649 RCV002299844 RCV003066769 RCV003058700 RCV003053130 RCV003071256 RCV003071370 RCV003066645 RCV003051197 RCV003062892 RCV003060998 RCV003061385 RCV003077349 RCV003081831 RCV003089247 RCV003075357 RCV003081677 RCV003081468 RCV003072330 RCV002585464 RCV003082253 RCV003092845 RCV003084979 RCV003092187 RCV003084780 RCV002574444 RCV003090547 RCV002615707 RCV002588659 RCV002628104 RCV002628149 RCV002585603 RCV002606436 RCV002647437 RCV002637979 RCV002625160 RCV002651503 RCV002647328 RCV002624831 RCV002648125 RCV002607744 RCV002623850 RCV003122049 RCV003121986 RCV003110466 RCV002570068 RCV002578124 RCV002587148 RCV002577568 RCV002588948 RCV002587754 RCV002578690 RCV002601378 RCV002630093 RCV002613476 RCV002604011 RCV002625843 RCV002604982 RCV002609141 RCV002604409 RCV002650088 RCV002650222 RCV002659139 RCV002653863 RCV002685572 RCV002659490 RCV002642694 RCV002658392 RCV002676119 RCV002676768 RCV002690693 RCV002715681 RCV002681847 RCV002706007 RCV002696166 RCV002672229 RCV002690851 RCV002722063 RCV002735843 RCV002731573 RCV002727258 RCV002717393 RCV002740728 RCV002761280 RCV002770439 RCV002756922 RCV002756935 RCV002792026 RCV002806572 RCV002828244 RCV002816473 RCV002842804 RCV002839274 RCV002843994 RCV002842332 RCV002861500 RCV002880652 RCV002889522 RCV002866853 RCV002866472 RCV002908024 RCV002891057 RCV002903901 RCV002926606 RCV002913678 RCV002877474 RCV002952515 RCV002918495 RCV002918522 RCV002927024 RCV002914194 RCV002947130 RCV002957444 RCV002904297 RCV002904346 RCV002904435 RCV002909561 RCV002932305 RCV002932079 RCV002942022 RCV002914910 RCV002949484 RCV002975876 RCV002929011 RCV002944099 RCV002958192 RCV002923763 RCV002971729 RCV002996519 RCV003002780 RCV003007568 RCV003008219 RCV003018298 RCV003023040 RCV003018082 RCV003020848 RCV003012400 RCV003018598 RCV003018644 RCV003013710 RCV003030921 RCV003033913 RCV003038530 RCV003037612 RCV003028653 RCV003014941 RCV003038056 RCV003032162 RCV003024239 RCV003030541 RCV003043470 RCV003053852 RCV003057847 RCV003025047 RCV003051926 RCV003030232 RCV003032744 RCV003059602 RCV003054062 RCV003047943 RCV003036833 RCV003052069 RCV003050182 RCV003050284 RCV003600445 RCV003600448 RCV005101197 RCV003600451 RCV003497981 RCV005101345 RCV000688893 RCV005104131 RCV003498174 RCV003498207 RCV003498017 RCV003498789 RCV003499194 RCV003499199 RCV003498984 RCV003499037 RCV003499041 RCV003499047 RCV003499089 RCV003499077 RCV003498911 RCV003499676 RCV003499686 RCV003499738 RCV003499746 RCV003499663 RCV003499669 RCV003499769 RCV003499596 RCV003499600 RCV003499709 RCV003499804 RCV003499545 RCV003499695 RCV003497633 RCV003497678 RCV003499901 RCV003497464 RCV003497465 RCV003499964 RCV003497519 RCV003497603 RCV003499940 RCV003497701 RCV003497702 RCV003498508 RCV003498589 RCV003497731 RCV003498360 RCV003498571 RCV003498307 RCV003498308 RCV003498309 RCV003498518 RCV003499320 RCV003499382 RCV003499484 RCV003498581 RCV003498749 RCV003499351 RCV003499498 RCV003498733 RCV003499400 RCV003499457 RCV003600638 RCV003600472 RCV003600510 RCV003600588 RCV003600614 RCV003600722 RCV003600840 RCV003600688 RCV003600745 RCV003600813 RCV003600705 RCV003600759 RCV003600784 RCV003601364 RCV003601602 RCV003601441 RCV003601523 RCV003601561 RCV003602052 RCV003601688 RCV003601633 RCV003601669 RCV003601747 RCV003602058 RCV003602113 RCV003602242 RCV003602269 RCV003602320 RCV003602449 RCV003602313 RCV003602338 RCV003602306 RCV003602439 RCV003602534 RCV003602352 RCV003602395 RCV003599906 RCV003599938 RCV003600063 RCV003600083 RCV003600073 RCV003600126 RCV003600253 RCV003600271 RCV003600147 RCV003600199 RCV003600242 RCV003600246 RCV003600269 RCV003600189 RCV003600195 RCV003600238 RCV003600997 RCV003600999 RCV003600343 RCV003600871 RCV003600302 RCV003600330 RCV003600352 RCV003600358 RCV003600885 RCV003600886 RCV003600918 RCV003600982 RCV003600983 RCV003601191 RCV003601220 RCV003601040 RCV003601042 RCV003601152 RCV003601175 RCV003601178 RCV003601269 RCV003601165 RCV003601260 RCV003601937 RCV003601902 RCV003601970 RCV003602001 RCV003601289 RCV003601963 RCV003601999 RCV003601323 RCV003601324 RCV003602033 RCV003820572 RCV003818271 RCV003816652 RCV003826804 RCV003834121 RCV003821585 RCV003839632 RCV003842609 RCV003853253 RCV003850936 RCV003851113 RCV003858205 RCV003854107 RCV003859674 RCV003869334 RCV003857019 RCV003859172 RCV003856220 RCV003866529 RCV003851541 RCV003851631 RCV003872355 RCV003872490 RCV003862231 RCV003875371 RCV003871936 RCV003872733 RCV003872744 RCV003873233 RCV003879651 RCV005104486 RCV000529726 RCV000560499 RCV000551405 RCV000559734 RCV000543923 RCV000545268 RCV000530508 RCV000552476 RCV000534501 RCV000528886 RCV000531689 RCV000551824 RCV000549878 RCV000543225 RCV000558974 RCV000531072 RCV000532510 RCV000539668 RCV000551200 RCV000558346 RCV000533508 RCV000529165 RCV001083767 RCV000542266 RCV000549285 RCV000544496 RCV000533006 RCV000539679 RCV000545055 RCV000534846 RCV000546394 RCV000556415 RCV000544488 RCV000528147 RCV000553392 RCV000538835 RCV000533236 RCV001393093 RCV000540498 RCV000525793 RCV000552869 RCV000524932 RCV000536427 RCV000556999 RCV000543670 RCV000527525 RCV000550628 RCV000554560 RCV000524836 RCV000556519 RCV000540283 RCV000537314 RCV000533024 RCV000525568 RCV000547488 RCV000548879 RCV000534103 RCV000560298 RCV000545832 RCV000542656 RCV002528322 RCV000538300 RCV000536670 RCV000555400 RCV000552224 RCV000542054 RCV000535865 RCV000546288 RCV000536091 RCV000557778 RCV000543090 RCV000532890 RCV000554786 RCV000555467 RCV000540607 RCV000553592 RCV000635157 RCV000635167 RCV000635184 RCV000635170 RCV000635165 RCV000635164 RCV000635160 RCV000635191 RCV000635159 RCV000635183 RCV000635176 RCV000635180 RCV000635163 RCV000635169 RCV000635174 RCV000635168 RCV000635182 RCV000635181 RCV000635173 RCV000635177 RCV000635193 RCV000635188 RCV000635158 RCV000635178 RCV000635172 RCV000635162 RCV000635187 RCV000635186 RCV000635171 RCV000635190 RCV000635185 RCV000688769 RCV000687938 RCV000704491 RCV000703820 RCV000688005 RCV000695536 RCV000703357 RCV000694852 RCV000699659 RCV000689936 RCV000686086 RCV000693272 RCV000695874 RCV000707363 RCV000698699 RCV000707438 RCV000694734 RCV000688512 RCV000706521 RCV000704902 RCV000693692 RCV000701651 RCV000700380 RCV000707220 RCV000691017 RCV000700874 RCV001257217 RCV000695120 RCV000706579 RCV000705644 RCV000690566 RCV000812337 RCV000822011 RCV000793804 RCV000812119 RCV000820401 RCV000813671 RCV000809014 RCV000808352 RCV000815202 RCV000817921 RCV000811445 RCV000809889 RCV000822617 RCV000796756 RCV000818756 RCV000797731 RCV000806432 RCV000795264 RCV000815356 RCV000814473 RCV000805337 RCV000795123 RCV000813759 RCV000812611 RCV000797099 RCV000801385 RCV000801414 RCV000816425 RCV000823306 RCV000791912 RCV000808594 RCV000793050 RCV000813267 RCV000805081 RCV000794165 RCV000811450 RCV000791859 RCV000807345 RCV000821387 RCV000814260 RCV000810987 RCV000816777 RCV000822084 RCV000814793 RCV000806871 RCV000812927 RCV000817133 RCV000824134 RCV000819514 RCV000816141 RCV000815950 RCV000815489 RCV000816152 RCV000793769 RCV000806129 RCV000821859 RCV000820062 RCV000794710 RCV001467526 RCV000878838 RCV002065448 RCV000877991 RCV000877780 RCV000878122 RCV000878290 RCV000945987 RCV000954014 RCV000958154 RCV000952018 RCV000949158 RCV000949219 RCV000952626 RCV000953881 RCV000951191 RCV000974619 RCV001409074 RCV001425609 RCV000970594 RCV001492609 RCV000966566 RCV000964691 RCV002540051 RCV000885353 RCV000879977 RCV000883442 RCV000882949 RCV000889418 RCV000889900 RCV000904620 RCV000910108 RCV000898366 RCV001467128 RCV000899239 RCV000912703 RCV001462212 RCV000921143 RCV001427853 RCV002065995 RCV000921701 RCV000920893 RCV000924516 RCV001461725 RCV000917427 RCV000923924 RCV001415804 RCV000934495 RCV001464515 RCV001466753 RCV000935692 RCV001496714 RCV000939398 RCV000934138 RCV001415349 RCV000928830 RCV000940888 RCV000937732 RCV000937725 RCV001416233 RCV001459618 RCV002544469 RCV000935702 RCV000937601 RCV001450755 RCV001421647 RCV002545938 RCV000943654 RCV001469764 RCV000950560 RCV000950934 RCV001409170 RCV000975958 RCV000977732 RCV001458334 RCV001444512 RCV001492350 RCV001407882 RCV001209904 RCV001050746 RCV001067743 RCV001039230 RCV001046579 RCV001059476 RCV001063909 RCV001059007 RCV001064026 RCV001042542 RCV001047767 RCV001051467 RCV001053670 RCV001049128 RCV001055730 RCV001039020 RCV001066110 RCV001064450 RCV001037804 RCV001036151 RCV001049901 RCV001045416 RCV001044973 RCV001035619 RCV001036339 RCV001052624 RCV001042513 RCV001056419 RCV001065805 RCV001050774 RCV001055316 RCV001051287 RCV001064415 RCV001054572 RCV001064582 RCV001051663 RCV001069137 RCV001044576 RCV001063100 RCV001035555 RCV001063293 RCV001056248 RCV001050322 RCV001057271 RCV001039444 RCV001068234 RCV001036658 RCV001049865 RCV001041703 RCV001045876 RCV001046353 RCV001063910 RCV001071776 RCV001069414 RCV001048751 RCV001057171 RCV001052626 RCV001065107 RCV001037803 RCV001040417 RCV001066053 RCV001060377 RCV001049619 RCV001065912 RCV001070954 RCV001046233 RCV001061808 RCV001040836 RCV001044482 RCV001057613 RCV001066151 RCV001055773 RCV001062822 RCV001036515 RCV001042323 RCV001216971 RCV001214205 RCV001220306 RCV001216266 RCV001218423 RCV001222279 RCV001223867 RCV001222301 RCV001218609 RCV001220452 RCV001214286 RCV001219190 RCV001218763 RCV001217051 RCV001224879 RCV001214663 RCV001222302 RCV001221621 RCV001220746 RCV001221176 RCV001217373 RCV001218130 RCV001217117 RCV001222300 RCV001217487 RCV001224350 RCV001224315 RCV001216239 RCV001219038 RCV001219903 RCV001219180 RCV001218680 RCV001220852 RCV001223351 RCV001216944 RCV001216300 RCV001224875 RCV001209178 RCV001207891 RCV001210607 RCV001210630 RCV001213801 RCV001201574 RCV001213372 RCV001210166 RCV001205074 RCV001212760 RCV001212683 RCV001208246 RCV001203356 RCV001209957 RCV001202707 RCV001203462 RCV001207695 RCV001209739 RCV001209742 RCV001201977 RCV001204781 RCV001205116 RCV001213737 RCV001209983 RCV001212423 RCV001209844 RCV001203457 RCV001211025 RCV001209981 RCV001211237 RCV001213306 RCV001209636 RCV001207030 RCV001212299 RCV001207976 RCV001208767 RCV001224641 RCV001235275 RCV001231425 RCV001236651 RCV001232020 RCV001236678 RCV001233139 RCV001232009 RCV001230604 RCV001235515 RCV001230718 RCV001237737 RCV001232262 RCV001238810 RCV001227406 RCV001227503 RCV001229272 RCV001227881 RCV001237880 RCV001236079 RCV001233430 RCV001236436 RCV001234079 RCV001236131 RCV001236900 RCV001225320 RCV001237843 RCV001227033 RCV001239815 RCV001241053 RCV001241010 RCV001239423 RCV001241429 RCV001242227 RCV001244504 RCV001242744 RCV001247593 RCV001244267 RCV001241824 RCV001244787 RCV001242468 RCV001239553 RCV001245679 RCV001245352 RCV001245829 RCV001298628 RCV001308647 RCV001304445 RCV001301423 RCV001301598 RCV001302336 RCV001301070 RCV001308913 RCV001299075 RCV001308258 RCV001295267 RCV001308283 RCV001297878 RCV001301391 RCV001304166 RCV001299817 RCV001305938 RCV001303424 RCV001297806 RCV001296756 RCV001297056 RCV001302638 RCV001309370 RCV001300384 RCV001302445 RCV001303244 RCV001302359 RCV001301858 RCV001294453 RCV001303315 RCV001306083 RCV001302612 RCV001309059 RCV001303749 RCV001296566 RCV001306260 RCV001300528
Familial cancer of breast	Likely benign; Uncertain significance	rs766997659, rs201707452	RCV005931482 RCV005913569
Gastric cancer	Uncertain significance	rs778541156	RCV005930364
Hepatoblastoma	Likely benign	rs200769337	RCV001843540
Hepatocellular carcinoma	Benign	rs758235168	RCV005871198
JMJD1C-associated Neurodevelopmental Disorder	Uncertain significance	rs369068631, rs2133165233, rs1157995731, rs974108053, rs760376249	RCV001839133 RCV001839193 RCV001839206 RCV001839031 RCV001839033
JMJD1C-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1273669583, rs377508666, rs1846680996, rs758235168, rs770502308, rs375031134, rs969730431, rs1183954793, rs370143073, rs2492772037, rs1847752500, rs1564593724, rs1845900106, rs371203235, rs1846805838, rs752666345, rs781664751, rs73290502, rs71508957, rs201112543, rs79059103, rs188520171, rs201800652, rs373686710, rs41274074, rs61758117, rs142118527, rs74138760, rs139722368, rs183692723, rs189118006, rs1589148092, rs369497646, rs193233064, rs544692517, rs368307551, rs1847733980, rs1453521404	RCV004749683 RCV003928893 RCV003973313 RCV003966123 RCV003908873 RCV003960889 RCV003963597 RCV004725423 RCV003399689 RCV003402460 RCV003417018 RCV003418971 RCV003397354 RCV003929214 RCV003894152 RCV003941476 RCV003944719 RCV003925616 RCV003915518 RCV003905355 RCV003905356 RCV003915516 RCV003960283 RCV003915517 RCV003979962 RCV003915515 RCV003905354 RCV003935417 RCV003980229 RCV003980230 RCV003965439 RCV003413602 RCV003970692 RCV003925990 RCV003923106 RCV003970516 RCV003396652 RCV004749620
JMJD1C-related Neurodevelopmental disorder	Uncertain significance	rs770143068	RCV002266077
Lung cancer	Benign	rs41274074	RCV005901350
Neurodevelopmental disorder	Uncertain significance	rs2132807373, rs2133216478, rs1845900106	RCV001780027 RCV002273154 RCV004786936
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1842048692	RCV005925590
See cases	Uncertain significance	rs2133155372, rs2133231988	RCV001420656 RCV002252490
Squamous cell lung carcinoma	Uncertain significance	rs1846728407	RCV005910947
TELO2-related intellectual disability-neurodevelopmental disorder	Uncertain significance	rs2492776690	RCV003151944
Thymoma	Benign	rs41274074	RCV005901348
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs188245456	RCV005912533
Uterine corpus endometrial carcinoma	Benign	rs758235168, rs41274074	RCV005871199 RCV005901351

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	26414697
Alopecia	Associate	29804699
Alzheimer Disease	Associate	35347084
Autistic Disorder	Associate	34368859
Bicuspid Aortic Valve Disease	Associate	36071494
Bipolar Disorder	Associate	33729739
Blood Coagulation Disorders	Associate	38575196
Blood Platelet Disorders	Associate	20526338
Cap Myopathy	Associate	26987799
Carcinoma Squamous Cell	Associate	30377206
Cerebral Infarction	Associate	29804699, 38575196
Coronary Artery Disease	Associate	29804699
Diabetes Mellitus Type 2	Associate	28406950
DiGeorge Syndrome	Associate	26608785
Heart Defects Congenital	Associate	26608785
Heart Diseases	Associate	26608785
Heart Failure	Associate	30842065
Heredodegenerative Disorders Nervous System	Associate	35347084
Infertility	Associate	29222425
Intellectual Disability	Associate	26181491
Leukemia	Associate	33289299, 36139405
Leukemia Myeloid Acute	Associate	33289299
Neoplasms	Associate	36139405
Neoplasms Germ Cell and Embryonal	Associate	24896186
Osteoarthritis	Associate	36046996
Personality Disorders	Associate	33450964
Polycythemia Vera	Stimulate	29519804
Primary Myelofibrosis	Stimulate	29519804
Prostatic Neoplasms	Associate	33450964, 34475205
Rett Syndrome	Associate	26181491
Thrombocytopenia	Associate	36429088
Thromboembolism	Associate	33705547
Triple Negative Breast Neoplasms	Associate	34475205