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	5994
Gene name	Regulatory factor X associated protein
Gene symbol	RFXAP
Synonyms (NCBI Gene)	MHC2D4
Chromosome	13
Chromosome location	13q13.3
Summary	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein a

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853098	C>T	Pathogenic	Stop gained, coding sequence variant
rs754240018	T>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1313207845	C>T	Pathogenic	Coding sequence variant, stop gained

247

Show/Hide all (247)

miRTarBase ID	miRNA	Experiments	Reference
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT439775	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439775	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT711792	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT711791	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT711790	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT711789	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT711788	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT711787	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT711786	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT711785	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT711784	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT711783	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT711782	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT711781	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT711780	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT711779	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT711778	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT711777	hsa-miR-3666	HITS-CLIP	19536157
MIRT711776	hsa-miR-4295	HITS-CLIP	19536157
MIRT711775	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT711774	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT711773	hsa-miR-520h	HITS-CLIP	19536157
MIRT1302653	hsa-miR-106a	CLIP-seq
MIRT1302654	hsa-miR-106b	CLIP-seq
MIRT1302655	hsa-miR-1179	CLIP-seq
MIRT1302656	hsa-miR-122	CLIP-seq
MIRT1302657	hsa-miR-1271	CLIP-seq
MIRT1302658	hsa-miR-130a	CLIP-seq
MIRT1302659	hsa-miR-130b	CLIP-seq
MIRT1302660	hsa-miR-1343	CLIP-seq
MIRT1302661	hsa-miR-146a	CLIP-seq
MIRT1302662	hsa-miR-146b-5p	CLIP-seq
MIRT1302663	hsa-miR-17	CLIP-seq
MIRT1302664	hsa-miR-186	CLIP-seq
MIRT1302665	hsa-miR-20a	CLIP-seq
MIRT1302666	hsa-miR-20b	CLIP-seq
MIRT1302667	hsa-miR-299-3p	CLIP-seq
MIRT1302668	hsa-miR-301a	CLIP-seq
MIRT1302669	hsa-miR-301b	CLIP-seq
MIRT1302670	hsa-miR-3065-5p	CLIP-seq
MIRT1302671	hsa-miR-3133	CLIP-seq
MIRT1302672	hsa-miR-3166	CLIP-seq
MIRT1302673	hsa-miR-3199	CLIP-seq
MIRT1302674	hsa-miR-3621	CLIP-seq
MIRT1302675	hsa-miR-3646	CLIP-seq
MIRT1302676	hsa-miR-3653	CLIP-seq
MIRT1302677	hsa-miR-3656	CLIP-seq
MIRT1302678	hsa-miR-3658	CLIP-seq
MIRT1302679	hsa-miR-3659	CLIP-seq
MIRT1302680	hsa-miR-3680	CLIP-seq
MIRT1302681	hsa-miR-3688-5p	CLIP-seq
MIRT1302682	hsa-miR-3974	CLIP-seq
MIRT1302683	hsa-miR-409-3p	CLIP-seq
MIRT1302684	hsa-miR-4266	CLIP-seq
MIRT1302685	hsa-miR-4307	CLIP-seq
MIRT1302686	hsa-miR-4491	CLIP-seq
MIRT1302687	hsa-miR-454	CLIP-seq
MIRT1302688	hsa-miR-4648	CLIP-seq
MIRT1302689	hsa-miR-4654	CLIP-seq
MIRT1302690	hsa-miR-4657	CLIP-seq
MIRT1302691	hsa-miR-4701-5p	CLIP-seq
MIRT1302692	hsa-miR-4734	CLIP-seq
MIRT1302693	hsa-miR-4744	CLIP-seq
MIRT1302694	hsa-miR-4766-5p	CLIP-seq
MIRT1302695	hsa-miR-4769-5p	CLIP-seq
MIRT1302696	hsa-miR-505	CLIP-seq
MIRT1302697	hsa-miR-519a	CLIP-seq
MIRT1302698	hsa-miR-519d	CLIP-seq
MIRT1302699	hsa-miR-520g	CLIP-seq
MIRT1302700	hsa-miR-588	CLIP-seq
MIRT1302701	hsa-miR-589	CLIP-seq
MIRT1302702	hsa-miR-610	CLIP-seq
MIRT1302703	hsa-miR-888	CLIP-seq
MIRT1302704	hsa-miR-93	CLIP-seq
MIRT1302705	hsa-miR-96	CLIP-seq
MIRT2089875	hsa-miR-1183	CLIP-seq
MIRT2089876	hsa-miR-4795-3p	CLIP-seq
MIRT1302655	hsa-miR-1179	CLIP-seq
MIRT2089875	hsa-miR-1183	CLIP-seq
MIRT1302660	hsa-miR-1343	CLIP-seq
MIRT1302680	hsa-miR-3680	CLIP-seq
MIRT2314694	hsa-miR-4311	CLIP-seq
MIRT1302691	hsa-miR-4701-5p	CLIP-seq
MIRT2314695	hsa-miR-4786-3p	CLIP-seq
MIRT1302700	hsa-miR-588	CLIP-seq
MIRT2314696	hsa-miR-642b	CLIP-seq
MIRT2393665	hsa-miR-2277-3p	CLIP-seq
MIRT2458090	hsa-miR-1910	CLIP-seq
MIRT2458091	hsa-miR-204	CLIP-seq
MIRT2458092	hsa-miR-211	CLIP-seq
MIRT2458093	hsa-miR-2114	CLIP-seq
MIRT2458094	hsa-miR-431	CLIP-seq
MIRT2458095	hsa-miR-455-3p	CLIP-seq
MIRT2458096	hsa-miR-4642	CLIP-seq
MIRT2458097	hsa-miR-4775	CLIP-seq
MIRT2458098	hsa-miR-511	CLIP-seq
MIRT2458099	hsa-miR-520d-5p	CLIP-seq
MIRT2458100	hsa-miR-524-5p	CLIP-seq
MIRT2458101	hsa-miR-590-3p	CLIP-seq
MIRT1302655	hsa-miR-1179	CLIP-seq
MIRT1302660	hsa-miR-1343	CLIP-seq
MIRT2611020	hsa-miR-298	CLIP-seq
MIRT2611021	hsa-miR-3117-5p	CLIP-seq
MIRT2611022	hsa-miR-3158-5p	CLIP-seq
MIRT2611023	hsa-miR-4418	CLIP-seq
MIRT2611024	hsa-miR-509-3-5p	CLIP-seq
MIRT2611025	hsa-miR-509-5p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	9118943, 9806546
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	9118943, 9806546
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10938133, 20732328, 25752541, 26496610, 28514442, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10938133
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	NAS	10938133
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9806546, 10938133
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	9118943
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	9118943, 9806546, 10938133

MIM	HGNC	e!Ensembl
601861	9988	ENSG00000133111

O00287

Protein name

Regulatory factor X-associated protein (RFX-associated protein) (RFX DNA-binding complex 36 kDa subunit)

Protein function

Part of the RFX complex that binds to the X-box of MHC II promoters.

PDB

2KW3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15289	RFXA_RFXANK_bdg	140 → 267	Regulatory factor X-associated C-terminal binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAA
PGGSVGAGKPVRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGG
EGSSGGARRRGSGGGSMSKTCTYEGCSETTSQVAKQRKPWMCKKHRNKMYKDKYKKKKSD
QALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPARPTLLEQVLNQKRLSLLR
SPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM

Sequence length

272

Interactions

View interactions

	KEGG
	Antigen processing and presentation Tuberculosis Primary immunodeficiency

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	Pathogenic; Likely pathogenic	rs1388967331, rs1249595284, rs2138212278, rs1224857205, rs2138213000, rs754240018, rs775250354, rs2057955936, rs749368415, rs1313207845	RCV001380175 RCV001380092 RCV001844513 RCV001959135 RCV002053870 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MHC class II deficiency 1	Pathogenic	rs775250354	RCV005632170	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MHC class II deficiency 4	Likely pathogenic; Pathogenic	rs754240018, rs1250669587, rs2500443582, rs775250354, rs137853098, rs2500443426, rs2500443932, rs1415196376, rs1313207845	RCV005008122 RCV004576884 RCV004576885 RCV004576886 RCV004576887 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

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.
BARE LYMPHOCYTE SYNDROME 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RFXAP-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	BEFREE	16337482, 22390233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	10825209, 15655668, 16337482, 22390233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare lymphocyte syndrome	Pubtator	25445815	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	CLINVAR_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 2	Bare Lymphocyte Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare Lymphocyte Syndrome, Type II, Complementation Group D	Bare Lymphocyte Syndrome	GENOMICS_ENGLAND_DG	9806639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome, Type II, Complementation Group D	Bare Lymphocyte Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★★★★★ ★☆☆☆☆ 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
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26337469, 29467893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	18336911, 9118943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25445815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26337469, 29467893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26337469	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	10825209, 38441205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10938133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	16337482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37408475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RFXAP (regulatory factor X associated protein)