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	4261
Gene name	Class II major histocompatibility complex transactivator
Gene symbol	CIITA
Synonyms (NCBI Gene)	C2TACIITAIVMHC2D1MHC2TANLRA
Chromosome	16
Chromosome location	16p13.13
Summary	This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852602	G>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs372826934	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs567218474	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs771073292	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs778982759	->C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs863223293	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs901844850	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, intron variant
rs1064794659	C>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1555507411	CTGGGCCCTGTCTCAGGCCCCCAGGCTTTCCCCAAACTGGTGCGGATCCTCACGGCCTTTTCCTCCCTGCAGCATCTGGAG>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1596616722	->T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

240

Show/Hide all (240)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019135	hsa-miR-335-5p	Microarray	18185580
MIRT681456	hsa-miR-6753-5p	HITS-CLIP	23706177
MIRT681455	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT681454	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT681453	hsa-miR-1321	HITS-CLIP	23706177
MIRT681452	hsa-miR-4739	HITS-CLIP	23706177
MIRT681451	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT681450	hsa-miR-3174	HITS-CLIP	23706177
MIRT681449	hsa-miR-4257	HITS-CLIP	23706177
MIRT681448	hsa-miR-4270	HITS-CLIP	23706177
MIRT681447	hsa-miR-4441	HITS-CLIP	23706177
MIRT681446	hsa-miR-6754-5p	HITS-CLIP	23706177
MIRT681445	hsa-miR-7113-5p	HITS-CLIP	23706177
MIRT681444	hsa-miR-1827	HITS-CLIP	23706177
MIRT681443	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681442	hsa-miR-6086	HITS-CLIP	23706177
MIRT681441	hsa-miR-219a-1-3p	HITS-CLIP	23706177
MIRT681440	hsa-miR-571	HITS-CLIP	23706177
MIRT681439	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT681438	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681437	hsa-miR-3612	HITS-CLIP	23706177
MIRT681436	hsa-miR-650	HITS-CLIP	23706177
MIRT681435	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681434	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT681456	hsa-miR-6753-5p	HITS-CLIP	23706177
MIRT681455	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT681454	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT681453	hsa-miR-1321	HITS-CLIP	23706177
MIRT681452	hsa-miR-4739	HITS-CLIP	23706177
MIRT681451	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT681450	hsa-miR-3174	HITS-CLIP	23706177
MIRT681449	hsa-miR-4257	HITS-CLIP	23706177
MIRT681448	hsa-miR-4270	HITS-CLIP	23706177
MIRT681447	hsa-miR-4441	HITS-CLIP	23706177
MIRT681446	hsa-miR-6754-5p	HITS-CLIP	23706177
MIRT681445	hsa-miR-7113-5p	HITS-CLIP	23706177
MIRT681444	hsa-miR-1827	HITS-CLIP	23706177
MIRT681443	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681442	hsa-miR-6086	HITS-CLIP	23706177
MIRT681441	hsa-miR-219a-1-3p	HITS-CLIP	23706177
MIRT681440	hsa-miR-571	HITS-CLIP	23706177
MIRT681439	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT681438	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681437	hsa-miR-3612	HITS-CLIP	23706177
MIRT681436	hsa-miR-650	HITS-CLIP	23706177
MIRT681435	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681434	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT893499	hsa-miR-127-5p	CLIP-seq
MIRT893500	hsa-miR-1285	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893502	hsa-miR-142-3p	CLIP-seq
MIRT893503	hsa-miR-194	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893505	hsa-miR-2114	CLIP-seq
MIRT893506	hsa-miR-298	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT893509	hsa-miR-3176	CLIP-seq
MIRT893510	hsa-miR-3187-5p	CLIP-seq
MIRT893511	hsa-miR-3194-5p	CLIP-seq
MIRT893512	hsa-miR-3606	CLIP-seq
MIRT893513	hsa-miR-3646	CLIP-seq
MIRT893514	hsa-miR-3664-5p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893518	hsa-miR-371-5p	CLIP-seq
MIRT893519	hsa-miR-374a	CLIP-seq
MIRT893520	hsa-miR-374b	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT893522	hsa-miR-3922-3p	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT893525	hsa-miR-4469	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT893528	hsa-miR-4522	CLIP-seq
MIRT893529	hsa-miR-4680-5p	CLIP-seq
MIRT893530	hsa-miR-4709-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT893532	hsa-miR-4729	CLIP-seq
MIRT893533	hsa-miR-483-3p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT893535	hsa-miR-541	CLIP-seq
MIRT893536	hsa-miR-550a	CLIP-seq
MIRT893537	hsa-miR-612	CLIP-seq
MIRT893538	hsa-miR-642a	CLIP-seq
MIRT893539	hsa-miR-654-5p	CLIP-seq
MIRT893540	hsa-miR-661	CLIP-seq
MIRT893541	hsa-miR-668	CLIP-seq
MIRT893542	hsa-miR-888	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893505	hsa-miR-2114	CLIP-seq
MIRT893506	hsa-miR-298	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964883	hsa-miR-335	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964895	hsa-miR-658	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT2200862	hsa-miR-24	CLIP-seq
MIRT2200863	hsa-miR-3119	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT2200864	hsa-miR-3187-3p	CLIP-seq
MIRT1964883	hsa-miR-335	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT2200865	hsa-miR-4284	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT2200866	hsa-miR-4435	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT2200867	hsa-miR-4701-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT2200868	hsa-miR-588	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964883	hsa-miR-335	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893513	hsa-miR-3646	CLIP-seq
MIRT2503722	hsa-miR-3662	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT2503723	hsa-miR-548c-3p	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893513	hsa-miR-3646	CLIP-seq
MIRT2503722	hsa-miR-3662	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT2503723	hsa-miR-548c-3p	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq

Show/Hide all (13)

Transcription factor	Regulation	Reference
EZH2	Repression	17911618;21266852
IRF1	Activation	10557076;11464288
IRF1	Unknown	10202014;9916712
IRF2	Activation	10557076;10956389
MYCN	Repression	12107114
PPARG	Activation	19358337
PPARG	Repression	11861426;17611194
PRDM1	Repression	16765445;16982896;17300840
RFX1	Unknown	1505960
STAT1	Activation	11397960;11464288;12847226;9491997
STAT1	Unknown	10202014;15247301;9551976
USF1	Activation	9491997
USF1	Unknown	10202014

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19041327
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19041327
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	TAS	15771576
GO:0003713	Function	Transcription coactivator activity	IDA	19041327
GO:0003713	Function	Transcription coactivator activity	TAS	7749984
GO:0003714	Function	Transcription corepressor activity	IDA	19041327
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10938133, 16600381, 17493635, 21890893, 23007646
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006955	Process	Immune response	TAS	8402893
GO:0016301	Function	Kinase activity	IEA
GO:0016605	Component	PML body	IDA	23007646
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IDA	19041327
GO:0034341	Process	Response to type II interferon	IDA	32855215
GO:0034341	Process	Response to type II interferon	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	19041327
GO:0044877	Function	Protein-containing complex binding	IDA	17493635
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IBA
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IDA	20639463
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IBA
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IC	9171108
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IDA	19041327
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19041327, 20639463, 32855215
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	9171108
GO:0046597	Process	Host-mediated suppression of symbiont invasion	IDA	32855215
GO:0046677	Process	Response to antibiotic	IDA	107465
GO:0060333	Process	Type II interferon-mediated signaling pathway	IDA	19041327
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19041327
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	9171108

MIM	HGNC	e!Ensembl
600005	7067	ENSG00000179583

P33076

Protein name

MHC class II transactivator (CIITA) (EC 2.3.1.-) (EC 2.7.11.1)

Protein function

Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter (PubMed:16600381, PubMed:17493635, PubMed:7749984, PubMed:8402893). Does not bind DNA (PubMed:16600381, PubMed:17493635, PubMed:7749984,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05729	NACHT	414 → 585	NACHT domain	Domain
PF13516	LRR_6	984 → 1008	Leucine Rich repeat	Repeat
PF13516	LRR_6	1013 → 1036	Leucine Rich repeat	Repeat

Sequence

MRCLAPRPAGSYLSEPQGSSQCATMELGPLEGGYLELLNSDADPLCLYHFYDQMDLAGEE
EIELYSEPDTDTINCDQFSRLLCDMEGDEETREAYANIAELDQYVFQDSQLEGLSKDIFK
HIGPDEVIGESMEMPAEVGQKSQKRPFPEELPADLKHWKPAEPPTVVTGSLLVRPVSDCS
TLPCLPLPALFNQEPASGQMRLEKTDQIPMPFSSSSLSCLNLPEGPIQFVPTISTLPHGL
WQISEAGTGVSSIFIYHGEVPQASQVPPPSGFTVHGLPTSPDRPGSTSPFAPSATDLPSM
PEPALTSRANMTEHKTSPTQCPAAGEVSNKLPKWPEPVEQFYRSLQDTYGAEPAGPDGIL
VEVDLVQARLERSSSKSLERELATPDWAERQLAQGGLAEVLLAAKEHRRPRETRVIAVLG
KAGQGKSYWAGAVSRAWACGRLPQYDFVFSVPCHCLNRPGDAYGLQDLLFSLGPQPLVAA
DEVFSHILKRPDRVLLILDGFEELEAQDGFLHSTCGPAPAEPCSLRGLLAGLFQKKLLRG
CTLLLTARPRGRLVQSLSKADALFELSGFSMEQAQAYVMRYFESSGMTEHQDRALTLLRD
RPLLLSHSHSPTLCRAVCQLSEALLELGEDAKLPSTLTGLYVGLLGRAALDSPPGALAEL
AKLAWELGRRHQSTLQEDQFPSADVRTWAMAKGLVQHPPRAAESELAFPSFLLQCFLGAL
WLALSGEIKDKELPQYLALTPRKKRPYDNWLEGVPRFLAGLIFQPPARCLGALLGPSAAA
SVDRKQKVLARYLKRLQPGTLRARQLLELLHCAHEAEEAGIWQHVVQELPGRLSFLGTRL
TPPDAHVLGKALEAAGQDFSLDLRSTGICPSGLGSLVGLSCVTRFRAALSDTVALWESLQ
QHGETKLLQAAEEKFTIEPFKAKSLKDVEDLGKLVQTQRTRSSSEDTAGELPAVRDLKKL
EFALGPVSGPQAFPKLVRILTAFSSLQHLDLDALSENKIGDEGVSQLSATFPQLKSLETL
NLSQNNITDLGAYKLAEALPSLAASLLRLSLYNNCICDVGAESLARVLPDMVSLRVMDVQ
YNKFTAAGAQQLAASLRRCPHVETLAMWTPTIPFSVQEHLQQQDSRISLR

Sequence length

1130

Interactions

View interactions

	KEGG		Reactome
	Antigen processing and presentation Toxoplasmosis Tuberculosis Influenza A Primary immunodeficiency		Interferon gamma signaling

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MHC class II deficiency	Likely pathogenic; Pathogenic	rs2144414230, rs373613022, rs2144645392, rs2145059680, rs367628451, rs2144580551, rs2144701260, rs2144718631, rs2144728494, rs1306793050, rs2145173097, rs2039198631, rs778982759, rs2144743127, rs2144769768 View all (54 more)	RCV001379544 RCV001379491 RCV001379510 RCV001378847 RCV001390888 View all (66 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MHC class II deficiency 1	Likely pathogenic; Pathogenic	rs2144580551, rs777089127, rs137852602, rs771073292, rs863223293, rs1555507411, rs2145057679, rs573523090, rs2544432143, rs1064794659, rs372826934, rs778982759, rs1596513253	RCV005005928 RCV005017039 RCV004566712 RCV004566713 RCV004566714 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rheumatoid arthritis	Likely pathogenic; Pathogenic	rs2144580551, rs777089127, rs1064794659, rs1596513253	RCV005005928 RCV005017039 RCV005018806 RCV005012382	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARE LYMPHOCYTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARE LYMPHOCYTE SYNDROME 2	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
CIITA-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRO-ENTEROPANCREATIC NEUROENDOCRINE TUMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin lymphoma, susceptibility to	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (141)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23511026, 25461408, 26350270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	18593762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	CTD_human_DG	18593762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	25712539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37722062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	26466379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	20013806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisynthetase syndrome	Antithrombin deficiency	Pubtator	30886734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	17661914, 27861821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17012290, 17075826, 20942939, 22461888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23292525		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	9916712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16439692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16426246, 16849401, 17012290, 17661914, 18630461, 19317741, 21331694, 22513452, 23151489, 23489895, 24430172, 26350270, 27861821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17012290, 18630461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23251452, 25712539, 31704289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	BEFREE	9233601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	UNIPROT_DG	10501838, 11466404, 11862382, 7749984, 8402893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	15655668, 9233601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare lymphocyte syndrome	Pubtator	25445815, 33386785, 9177217	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	CLINVAR_DG	8402893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare Lymphocyte Syndrome, Type II, Complementation Group A	Bare Lymphocyte Syndrome	GENOMICS_ENGLAND_DG	11862382		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare Lymphocyte Syndrome, Type II, Complementation Group A	Bare Lymphocyte Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	BEFREE	26833430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	26833430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	23133532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	35760800	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22563434, 22942358, 26126114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21944129, 35739510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	19317741, 23052709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	20190752, 28934294	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10329350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18630461, 20013806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20013806, 37565053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	15682480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21944129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37818353	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22064865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10825588, 23052709, 24430172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25712539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	21281807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	26466379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	CTD_human_DG	29915428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	LHGDN	15467734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	14966870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	16426246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	15474153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21368758, 23251452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	23251452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunodeficiency by defective expression of MHC class II	Bare Lymphocyte Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15655668, 7749985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17012290		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	18322192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18398440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	17661914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	25642632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	14563641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23251452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23251452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19212673, 30723578, 9670958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30674474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15897313, 21614020, 30674474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30674474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15897313, 17711409, 24333266, 30674474		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30674474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	14563641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	14973505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	36575003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14585275, 16879803, 31783769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	26135560, 26549456, 31292115		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15326139		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16312044, 21903207, 28647344, 9531276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16312044, 17304627, 21903207, 23328677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19862823	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	22064865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17183695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17183695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	19659749, 23009575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37150829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10542275, 17229644, 17300840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17300840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35760800	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	11295470, 11571785, 16426246, 17012290, 17661914, 17678724, 17711409, 18606010, 19221398, 19659749, 20211854, 21653641, 21962857, 23009575, 23052709, 24430172, 25992516 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	17012290, 20211854, 20942939, 21614020, 23009575, 25992516, 26203907, 30970129, 34877984, 36282535	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	23133532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17012290, 17183695, 17711409, 23052709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	17012290, 17183695, 20942939	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis Inclusion Body	Myositis	Pubtator	30886734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	16426246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	23292525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	27436580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31922974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	GWASCAT_DG	27436580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18035537, 19212673, 19224634, 19251712, 21368758, 25445815, 25748235, 26549456, 31647130, 9670958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12107114, 14586411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12107114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	23133532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23133532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23133532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37923686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	16426246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20053773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	18281539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21989738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	21989738	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16426246, 16776848, 16920747, 17012290, 17075826, 17133579, 17875550, 19221398, 19567623, 22461888, 22513452, 23052709, 26350270, 26439834, 27861821		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17875550		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	20230522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	14678199, 15897313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12107114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12734341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32901107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	25748235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	18567864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34404901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	17911618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	21331694		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	21331694		★★★★★ ★☆☆☆☆ Found in Text Mining only

CIITA (class II major histocompatibility complex transactivator)