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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	221037
Gene name	Jumonji domain containing 1C
Gene symbol	JMJD1C
Synonyms (NCBI Gene)	KDM3CTRIP-8TRIP8
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

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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

229

Show/Hide all (229)

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

Show/Hide all (20)

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

MIM	HGNC	e!Ensembl
604503	12313	ENSG00000171988

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

Interactions

View interactions

	KEGG		Reactome
	Transcriptional misregulation in cancer		Factors involved in megakaryocyte development and platelet production

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 Unknown Diseases (52)

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.
22Q11.2 DELETION SYNDROME	—	HPO, Orphanet HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign familial infantile epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early myoclonic encephalopathy	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JMJD1C-associated Neurodevelopmental Disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JMJD1C-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JMJD1C-related Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELO2-related intellectual disability-neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA 4	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (151)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	ORPHANET_DG	26608785		★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	ORPHANET_DG	26608785		★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24501218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	29804699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35347084	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	28406950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	27611488		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asymmetric crying face association	Asymmetric crying face association	ORPHANET_DG	26608785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26181491		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	17290275, 28378413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17290275		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17290275		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	34368859	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	26414697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	33729739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	38575196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	20526338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17353003, 24240613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cap Myopathy	Cap myopathy	Pubtator	26987799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30377206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28378413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Germinoma	Central Nervous System Germinoma	ORPHANET_DG	24896186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	29804699, 38575196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	29519804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29888107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29888107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	ORPHANET_DG	26608785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29804699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	29804699	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28406950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28406950		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	ORPHANET_DG	26608785		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	Digeorge syndrome	Pubtator	26608785	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28123852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28123852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26414697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Germinoma of the central nervous system	Germinoma Of The Central Nervous System	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26608785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26608785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30842065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	29222425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26181491, 28378413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	26181491	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASDB_DG	22354554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	22354554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24501218, 30622285, 31076406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33289299, 36139405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33289299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30622285, 31076406		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17353003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28123852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26987799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29888107		★★★★★ ★☆☆☆☆ 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	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17353003, 17549425, 30622285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital myelomeningocele	Myelomeningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36046996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	29519804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	29519804	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	24501218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26987799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33450964, 34475205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	26181491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26181491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	ORPHANET_DG	26608785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	36429088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	33705547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34475205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

JMJD1C (jumonji domain containing 1C)