HLA-B (major histocompatibility complex, class I, B)

Gene

• Entrez ID: 3106
• Gene name: Major histocompatibility complex, class I, B
• Gene symbol: HLA-B
• Synonyms (NCBI Gene): AS, B-4901, HLAB
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039965	hsa-miR-615-3p	CLASH	23622248
MIRT716701	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT716700	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT716699	hsa-miR-626	HITS-CLIP	19536157
MIRT716698	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT716697	hsa-miR-4656	HITS-CLIP	19536157
MIRT716696	hsa-miR-6829-5p	HITS-CLIP	19536157
MIRT716695	hsa-miR-4492	HITS-CLIP	19536157
MIRT716694	hsa-miR-4498	HITS-CLIP	19536157
MIRT716693	hsa-miR-5001-5p	HITS-CLIP	19536157
MIRT716692	hsa-miR-762	HITS-CLIP	19536157
MIRT716691	hsa-miR-4675	HITS-CLIP	19536157
MIRT716690	hsa-miR-4741	HITS-CLIP	19536157
MIRT716689	hsa-miR-6756-5p	HITS-CLIP	19536157
MIRT716688	hsa-miR-6766-5p	HITS-CLIP	19536157
MIRT716687	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT716686	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT716685	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT716684	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT716683	hsa-miR-4417	HITS-CLIP	19536157
MIRT716682	hsa-miR-1587	HITS-CLIP	19536157
MIRT716681	hsa-miR-3620-5p	HITS-CLIP	19536157
MIRT716680	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT486968	hsa-miR-495-5p	PAR-CLIP	23592263
MIRT486966	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT486967	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT486965	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT486964	hsa-miR-9500	PAR-CLIP	23592263
MIRT486963	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT486962	hsa-miR-936	PAR-CLIP	23592263
MIRT486961	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT486960	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT486959	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT486958	hsa-miR-548ao-5p	PAR-CLIP	23592263
MIRT486957	hsa-miR-548ax	PAR-CLIP	23592263
MIRT486956	hsa-miR-4660	PAR-CLIP	23592263
MIRT392124	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT486955	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT486954	hsa-miR-7156-3p	PAR-CLIP	23592263
MIRT486953	hsa-miR-1301-3p	PAR-CLIP	23592263
MIRT486952	hsa-miR-5047	PAR-CLIP	23592263
MIRT486951	hsa-miR-30a-3p	PAR-CLIP	23592263
MIRT486950	hsa-miR-30d-3p	PAR-CLIP	23592263
MIRT486949	hsa-miR-30e-3p	PAR-CLIP	23592263
MIRT716701	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT716700	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT716699	hsa-miR-626	HITS-CLIP	19536157
MIRT716698	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT716697	hsa-miR-4656	HITS-CLIP	19536157
MIRT716696	hsa-miR-6829-5p	HITS-CLIP	19536157
MIRT716695	hsa-miR-4492	HITS-CLIP	19536157
MIRT716694	hsa-miR-4498	HITS-CLIP	19536157
MIRT716693	hsa-miR-5001-5p	HITS-CLIP	19536157
MIRT716692	hsa-miR-762	HITS-CLIP	19536157
MIRT716691	hsa-miR-4675	HITS-CLIP	19536157
MIRT716690	hsa-miR-4741	HITS-CLIP	19536157
MIRT716689	hsa-miR-6756-5p	HITS-CLIP	19536157
MIRT716688	hsa-miR-6766-5p	HITS-CLIP	19536157
MIRT716687	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT716686	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT716685	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT716684	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT716683	hsa-miR-4417	HITS-CLIP	19536157
MIRT716682	hsa-miR-1587	HITS-CLIP	19536157
MIRT716681	hsa-miR-3620-5p	HITS-CLIP	19536157
MIRT716680	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT486968	hsa-miR-495-5p	PAR-CLIP	23592263
MIRT486966	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT486967	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT486965	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT486964	hsa-miR-9500	PAR-CLIP	23592263
MIRT486963	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT486962	hsa-miR-936	PAR-CLIP	23592263
MIRT486961	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT486960	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT486959	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT486958	hsa-miR-548ao-5p	PAR-CLIP	23592263
MIRT486957	hsa-miR-548ax	PAR-CLIP	23592263
MIRT486956	hsa-miR-4660	PAR-CLIP	23592263
MIRT392124	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT486955	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT486954	hsa-miR-7156-3p	PAR-CLIP	23592263
MIRT486953	hsa-miR-1301-3p	PAR-CLIP	23592263
MIRT486952	hsa-miR-5047	PAR-CLIP	23592263
MIRT486951	hsa-miR-30a-3p	PAR-CLIP	23592263
MIRT486950	hsa-miR-30d-3p	PAR-CLIP	23592263
MIRT486949	hsa-miR-30e-3p	PAR-CLIP	23592263
MIRT1048287	hsa-miR-3185	CLIP-seq
MIRT1048288	hsa-miR-4719	CLIP-seq
MIRT1549513	hsa-miR-103b	CLIP-seq
MIRT1549514	hsa-miR-1301	CLIP-seq
MIRT1549515	hsa-miR-148a	CLIP-seq
MIRT1549516	hsa-miR-148b	CLIP-seq
MIRT1549517	hsa-miR-152	CLIP-seq
MIRT1549518	hsa-miR-23a	CLIP-seq
MIRT1549519	hsa-miR-23b	CLIP-seq
MIRT1549520	hsa-miR-23c	CLIP-seq
MIRT1549521	hsa-miR-3146	CLIP-seq
MIRT1549522	hsa-miR-3166	CLIP-seq
MIRT1549523	hsa-miR-3653	CLIP-seq
MIRT1549524	hsa-miR-3672	CLIP-seq
MIRT1549525	hsa-miR-4311	CLIP-seq
MIRT1549526	hsa-miR-4708-5p	CLIP-seq
MIRT1549527	hsa-miR-548p	CLIP-seq
MIRT1549528	hsa-miR-561	CLIP-seq
MIRT1549518	hsa-miR-23a	CLIP-seq
MIRT1549519	hsa-miR-23b	CLIP-seq
MIRT1549520	hsa-miR-23c	CLIP-seq
MIRT1549521	hsa-miR-3146	CLIP-seq
MIRT1549514	hsa-miR-1301	CLIP-seq
MIRT1549515	hsa-miR-148a	CLIP-seq
MIRT1549516	hsa-miR-148b	CLIP-seq
MIRT1549517	hsa-miR-152	CLIP-seq
MIRT2010971	hsa-miR-181a	CLIP-seq
MIRT2010972	hsa-miR-181b	CLIP-seq
MIRT2010973	hsa-miR-181c	CLIP-seq
MIRT2010974	hsa-miR-181d	CLIP-seq
MIRT2010975	hsa-miR-2467-5p	CLIP-seq
MIRT1549523	hsa-miR-3653	CLIP-seq
MIRT2010976	hsa-miR-3942-3p	CLIP-seq
MIRT2010977	hsa-miR-4262	CLIP-seq
MIRT1549525	hsa-miR-4311	CLIP-seq
MIRT1549526	hsa-miR-4708-5p	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT2243211	hsa-miR-1273f	CLIP-seq
MIRT2010971	hsa-miR-181a	CLIP-seq
MIRT2010972	hsa-miR-181b	CLIP-seq
MIRT2010973	hsa-miR-181c	CLIP-seq
MIRT2010974	hsa-miR-181d	CLIP-seq
MIRT2243212	hsa-miR-224	CLIP-seq
MIRT1549518	hsa-miR-23a	CLIP-seq
MIRT1549519	hsa-miR-23b	CLIP-seq
MIRT1549520	hsa-miR-23c	CLIP-seq
MIRT2010975	hsa-miR-2467-5p	CLIP-seq
MIRT1549521	hsa-miR-3146	CLIP-seq
MIRT1549522	hsa-miR-3166	CLIP-seq
MIRT2243213	hsa-miR-3616-5p	CLIP-seq
MIRT2243214	hsa-miR-3647-5p	CLIP-seq
MIRT1549524	hsa-miR-3672	CLIP-seq
MIRT2243215	hsa-miR-371-5p	CLIP-seq
MIRT2243216	hsa-miR-371b-5p	CLIP-seq
MIRT2010977	hsa-miR-4262	CLIP-seq
MIRT2243217	hsa-miR-4635	CLIP-seq
MIRT1048288	hsa-miR-4719	CLIP-seq
MIRT2243218	hsa-miR-4756-3p	CLIP-seq
MIRT1549528	hsa-miR-561	CLIP-seq
MIRT2243219	hsa-miR-573	CLIP-seq
MIRT2243220	hsa-miR-593	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT1549518	hsa-miR-23a	CLIP-seq
MIRT1549519	hsa-miR-23b	CLIP-seq
MIRT1549520	hsa-miR-23c	CLIP-seq
MIRT2010975	hsa-miR-2467-5p	CLIP-seq
MIRT1549521	hsa-miR-3146	CLIP-seq
MIRT1549522	hsa-miR-3166	CLIP-seq
MIRT1549525	hsa-miR-4311	CLIP-seq
MIRT2243217	hsa-miR-4635	CLIP-seq
MIRT1549526	hsa-miR-4708-5p	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT1549513	hsa-miR-103b	CLIP-seq
MIRT2429606	hsa-miR-125a-3p	CLIP-seq
MIRT1549514	hsa-miR-1301	CLIP-seq
MIRT1549515	hsa-miR-148a	CLIP-seq
MIRT1549516	hsa-miR-148b	CLIP-seq
MIRT1549517	hsa-miR-152	CLIP-seq
MIRT2010971	hsa-miR-181a	CLIP-seq
MIRT2010972	hsa-miR-181b	CLIP-seq
MIRT2010973	hsa-miR-181c	CLIP-seq
MIRT2010974	hsa-miR-181d	CLIP-seq
MIRT2429607	hsa-miR-298	CLIP-seq
MIRT2429608	hsa-miR-3121-5p	CLIP-seq
MIRT1549523	hsa-miR-3653	CLIP-seq
MIRT2429609	hsa-miR-3678-3p	CLIP-seq
MIRT2429610	hsa-miR-3934	CLIP-seq
MIRT2010976	hsa-miR-3942-3p	CLIP-seq
MIRT2010977	hsa-miR-4262	CLIP-seq
MIRT2429611	hsa-miR-4714-3p	CLIP-seq
MIRT2429612	hsa-miR-539	CLIP-seq
MIRT1549527	hsa-miR-548p	CLIP-seq
MIRT1549528	hsa-miR-561	CLIP-seq
MIRT2429613	hsa-miR-570	CLIP-seq
MIRT2429614	hsa-miR-580	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT2429615	hsa-miR-764	CLIP-seq
MIRT2429606	hsa-miR-125a-3p	CLIP-seq
MIRT2437601	hsa-miR-128	CLIP-seq
MIRT2437602	hsa-miR-1292	CLIP-seq
MIRT2010971	hsa-miR-181a	CLIP-seq
MIRT2010972	hsa-miR-181b	CLIP-seq
MIRT2010973	hsa-miR-181c	CLIP-seq
MIRT2010974	hsa-miR-181d	CLIP-seq
MIRT1549518	hsa-miR-23a	CLIP-seq
MIRT1549519	hsa-miR-23b	CLIP-seq
MIRT1549520	hsa-miR-23c	CLIP-seq
MIRT2437603	hsa-miR-27a	CLIP-seq
MIRT2437604	hsa-miR-27b	CLIP-seq
MIRT2429607	hsa-miR-298	CLIP-seq
MIRT2429608	hsa-miR-3121-5p	CLIP-seq
MIRT2437605	hsa-miR-3138	CLIP-seq
MIRT1549521	hsa-miR-3146	CLIP-seq
MIRT2437606	hsa-miR-3150a-3p	CLIP-seq
MIRT1549522	hsa-miR-3166	CLIP-seq
MIRT2437607	hsa-miR-3175	CLIP-seq
MIRT2429609	hsa-miR-3678-3p	CLIP-seq
MIRT2429610	hsa-miR-3934	CLIP-seq
MIRT2437608	hsa-miR-4261	CLIP-seq
MIRT2010977	hsa-miR-4262	CLIP-seq
MIRT2437609	hsa-miR-4310	CLIP-seq
MIRT1549525	hsa-miR-4311	CLIP-seq
MIRT2437610	hsa-miR-4457	CLIP-seq
MIRT2437611	hsa-miR-4471	CLIP-seq
MIRT2437612	hsa-miR-4496	CLIP-seq
MIRT2437613	hsa-miR-4667-5p	CLIP-seq
MIRT2437614	hsa-miR-4700-5p	CLIP-seq
MIRT1549526	hsa-miR-4708-5p	CLIP-seq
MIRT2437615	hsa-miR-4731-3p	CLIP-seq
MIRT2437616	hsa-miR-4801	CLIP-seq
MIRT2437617	hsa-miR-541	CLIP-seq
MIRT2243220	hsa-miR-593	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT2429615	hsa-miR-764	CLIP-seq
MIRT2437618	hsa-miR-939	CLIP-seq
MIRT2429606	hsa-miR-125a-3p	CLIP-seq
MIRT2010971	hsa-miR-181a	CLIP-seq
MIRT2010972	hsa-miR-181b	CLIP-seq
MIRT2010973	hsa-miR-181c	CLIP-seq
MIRT2010974	hsa-miR-181d	CLIP-seq
MIRT2243212	hsa-miR-224	CLIP-seq
MIRT2010975	hsa-miR-2467-5p	CLIP-seq
MIRT2429607	hsa-miR-298	CLIP-seq
MIRT2429608	hsa-miR-3121-5p	CLIP-seq
MIRT1048287	hsa-miR-3185	CLIP-seq
MIRT2243213	hsa-miR-3616-5p	CLIP-seq
MIRT2243214	hsa-miR-3647-5p	CLIP-seq
MIRT2429609	hsa-miR-3678-3p	CLIP-seq
MIRT2429610	hsa-miR-3934	CLIP-seq
MIRT2010977	hsa-miR-4262	CLIP-seq
MIRT1549525	hsa-miR-4311	CLIP-seq
MIRT2243217	hsa-miR-4635	CLIP-seq
MIRT1549526	hsa-miR-4708-5p	CLIP-seq
MIRT1048288	hsa-miR-4719	CLIP-seq
MIRT2243219	hsa-miR-573	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT2429615	hsa-miR-764	CLIP-seq
MIRT2429606	hsa-miR-125a-3p	CLIP-seq
MIRT2010971	hsa-miR-181a	CLIP-seq
MIRT2010972	hsa-miR-181b	CLIP-seq
MIRT2010973	hsa-miR-181c	CLIP-seq
MIRT2010974	hsa-miR-181d	CLIP-seq
MIRT2429607	hsa-miR-298	CLIP-seq
MIRT2429608	hsa-miR-3121-5p	CLIP-seq
MIRT2429609	hsa-miR-3678-3p	CLIP-seq
MIRT2429610	hsa-miR-3934	CLIP-seq
MIRT2010977	hsa-miR-4262	CLIP-seq
MIRT1549525	hsa-miR-4311	CLIP-seq
MIRT1549526	hsa-miR-4708-5p	CLIP-seq
MIRT2010978	hsa-miR-642b	CLIP-seq
MIRT2429615	hsa-miR-764	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Activation	11053628
HIVEP2	Unknown	1409593
MYC	Activation	8206526
MYCN	Unknown	8895520

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IBA
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IDA	2420472
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	IEA
GO:0002476	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA
GO:0002486	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IBA
GO:0002486	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IDA	22031944
GO:0002667	Process	Regulation of T cell anergy	IMP	20008523
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	8046333, 20008523
GO:0005515	Function	Protein binding	IPI	12853576, 19858347, 24018270, 26439010, 27649529, 28546555
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	20946353
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	20946353
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	518865, 2715640, 8420828, 8976183
GO:0005886	Component	Plasma membrane	TAS
GO:0006952	Process	Defense response	TAS	3011411
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	IMP	22321387
GO:0006955	Process	Immune response	NAS	518865, 2715640, 8420828, 8976183
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IDA	9754572, 22031944
GO:0009986	Component	Cell surface	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	3011411
GO:0016045	Process	Detection of bacterium	IMP	22321387
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0032655	Process	Regulation of interleukin-12 production	IMP	20008523
GO:0032675	Process	Regulation of interleukin-6 production	IMP	20008523
GO:0042270	Process	Protection from natural killer cell mediated cytotoxicity	IDA	2784569, 8046333, 18502829
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042605	Function	Peptide antigen binding	IDA	22031944, 23646949
GO:0042612	Component	MHC class I protein complex	IDA	22031944
GO:0042612	Component	MHC class I protein complex	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046977	Function	TAP binding	IDA	8617941
GO:0046977	Function	TAP binding	IDA	8617941
GO:0051087	Function	Protein-folding chaperone binding	IPI	15056662
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	12519789, 19056867, 19199708, 20458337
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IEA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS
GO:2001198	Process	Regulation of dendritic cell differentiation	IMP	20008523

Other IDs

• MIM: 142830
• HGNC: 4932
• e!Ensembl: ENSG00000234745

Protein

• UniProt ID: P01889
• Protein name: HLA class I histocompatibility antigen, B alpha chain (Human leukocyte antigen B) (HLA-B)
• Protein function: Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (
• PDB: 1A1M, 1A1N, 1A1O, 1A9B, 1A9E, 1AGB, 1AGC, 1AGD, 1AGE, 1AGF, 1CG9, 1E27, 1E28, 1HSA, 1JGD, 1JGE, 1K5N, 1M05, 1M6O, 1MI5, 1N2R, 1OF2, 1OGT, 1SYS, 1SYV, 1UXS, 1UXW, 1W0V, 1W0W, 1XH3, 1XR8, 1XR9, 1ZHK, 1ZHL, 1ZSD, 2A83, 2AK4, 2AXF, 2AXG, 2BSR, 2BSS, 2BST, 2BVO, 2BVP, 2BVQ, 2H6P, 2HJL, 2NW3, 2NX5, 2RFX, 2YPK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00129	MHC_I	25 → 203	Class I Histocompatibility antigen, domains alpha 1 and 2	Domain
  PF07654	C1-set	211 → 290	Immunoglobulin C1-set domain	Domain
  PF06623	MHC_I_C	337 → 362	MHC_I C-terminus	Family

• Sequence:

  MLVMAPRTVLLLLSAALALTETWAGSHSMRYFYTSVSRPGRGEPRFISVGYVDDTQFVRF
  DSDAASPREEPRAPWIEQEGPEYWDRNTQIYKAQAQTDRESLRNLRGYYNQSEAGSHTLQ
  SMYGCDVGPDGRLLRGHDQYAYDGKDYIALNEDLRSWTAADTAAQITQRKWEAAREAEQR
  RAYLEGECVEWLRRYLENGKDKLERADPPKTHVTHHPISDHEATLRCWALGFYPAEITLT
  WQRDGEDQTQDTELVETRPAGDRTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEP
  SSQSTVPIVGIVAGLAVLAVVVIGAVVAAVMCRRKSSGGKGGSYSQAACSDSAQGSDVSL
  TA

• Sequence length: 362

Pathways

KEGG:

Endocytosis
Phagosome
Cellular senescence
Cell adhesion molecules
Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Type I diabetes mellitus
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Viral carcinogenesis
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Reactome:

ER-Phagosome pathway
Endosomal/Vacuolar pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
Neutrophil degranulation
Interferon gamma signaling
Interferon alpha/beta signaling
Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
EBV-positive nodal T- and NK-cell lymphoma	Pathogenic	rs1369055141	RCV004560305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NMDA RECEPTOR ENCEPHALITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ARCH SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, REACTIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet disease	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIRDSHOT CHORIORETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL INTRAEPITHELIAL NEOPLASIA GRADE 2/3	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYOSITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE LARGE B-CELL LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXANTHEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL ARTERITIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HLA-B-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY REACTION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONNECTIVE TISSUE DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REACTIVE ARTHRITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHLEBITIS OF SUPERFICIAL VEINS OF LOWER EXTREMITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TROPICAL SPASTIC PARAPARESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	BEFREE	31302275		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	17212707		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	22042692, 24364037, 6785965		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21481192, 24364037, 25545232, 30655602		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	12366785, 25040682		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28922848		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25545232, 30655602		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26189878		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11485622, 17437273		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	28508950		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	CTD_human_DG	3501473		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19728932, 28343170		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	LHGDN	17209778		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	25187353, 26599303, 27157822, 28931918, 29298994, 31108563, 7961560		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	23817571		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	10203251		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23991104		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22931407		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	6594042		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	10027781, 10090616, 10438975, 10513815, 10990233, 11145849, 11196671, 11580853, 11929585, 12358855, 12366780, 12428239, 12746911, 1352961, 14719206, 14734527, 15113995, 15352892, 15641041, 16115862, 1672816, 16805919, 17082617, 17434140, 17717670, 17908086, 18329312, 18493767, 18925686, 19035480, 19185064, 19318316, 19416804, 19493237, 19536542, 19565552, 19655145, 19804562, 19893203, 20032103, 20131260, 20374314, 20463747, 21418777, 21483994, 21797986, 22324941, 23727634, 23749187, 23916069, 23990399, 23996708, 24286455, 24498994, 24666027, 24673577, 24744085, 24838411, 25422414, 25615938, 25626601, 25956157, 25994336, 26012363, 26314893, 26439405, 26613595, 26748477, 26929215, 27228481, 27428175, 27506766, 27515058, 2789045, 28063628, 28182106, 28191455, 28278760, 28386763, 28441778, 28508950, 28526894, 28882159, 28898393, 28944904, 29067128, 29207654, 29288176, 29299476, 29308377, 29333268, 29371928, 29393594, 29434723, 29435070, 29463951, 29517554, 29632046, 29754330, 29769354, 29771402, 29787813, 29803000, 29994796, 30341055, 30398028, 30418346, 30624284, 30729703, 30777138, 30804325, 30805973, 30816502, 30846747, 31024000, 31074089, 31090201, 31106498, 31111563, 31124320, 31128893, 31130248, 31209096, 31217850, 31269678, 31292936, 31296658, 31356975, 31360722, 31397536, 31432140, 31477563, 31485664, 31523044, 31530632, 31593333, 31599089, 31630236, 31682238, 31711818, 31712904, 31726387, 31740583, 31741083, 31749313, 31754591, 31781672, 31794766, 31802207, 31806960, 31818273, 31824954, 3498032, 6608913, 6610755, 6987762, 7489765, 8744728, 9027969, 9174144, 9365095, 9583810, 9583811, 9710228, 9864041, 9949944, 9952031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	LHGDN	12366780, 12826378, 16115862, 16883538, 17082617, 17665395, 17911426, 18178223, 18309255, 18322308, 18424159, 18925686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	CTD_human_DG	21743469, 22138694, 8053961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASDB_DG	22138694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	30946743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	16957887		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior uveitis	Uveitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	30770507		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30770507		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	12917841, 17321339		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	16704965, 22572536, 31733047		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27585683		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12198697, 16738888, 19210881, 22586163, 23448612, 25994336, 29333268, 29434723, 30777138, 31111563, 31124320, 31143068, 31360722, 31599089, 31630236, 31711818		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	18785306		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	11390038, 18381784, 21457151, 21900282, 22586163, 23611695, 23916976, 25261574, 25415529, 25948071, 26780035, 27696727, 27974100, 28202737, 28473425, 28821532, 29037523, 29361203, 29429762, 29517554, 30936281, 31033231, 31074583, 31203228, 31773391, 31781672		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	LHGDN	16200572, 17982707, 18381784		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASDB_DG	20953186		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	20953186, 26626624, 30552173		★☆☆☆☆ Found in Text Mining only
Arthritis, Sacroiliac	Sacroiliac Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	24273020, 29606666		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21907864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21907864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	27182965, 30929738, 31036433, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	27585683		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	20626023		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21084121, 26819491		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	16720216, 26819491		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	LHGDN	17006990		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	27206238		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12366785, 1672123, 17597093, 19500315, 21816777, 23830516, 25154780, 28182106, 28247302, 29207654, 29371928, 29434723, 29771402, 30217207, 30804325, 31485664		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	LHGDN	15046556		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	28446606		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	27539887		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	27539887		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	27539887		★☆☆☆☆ Found in Text Mining only
	Behcet Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	10205273, 10440244, 10513813, 10519363, 10674970, 11053265, 11182229, 11182230, 11426025, 11556970, 11696219, 11703824, 11703826, 11703827, 12028538, 12209364, 12372094, 12492815, 12622781, 12723980, 1356945, 1358857, 15158619, 15875188, 16101830, 16273774, 16671946, 17145369, 17284227, 17296902, 18158593, 18627572, 18700875, 19395541, 19684014, 20622878, 20868569, 20875797, 21059670, 22042097, 22188278, 22258392, 22309845, 22560383, 23021043, 23291587, 23396137, 24286189, 24821759, 24887019, 25019531, 25405820, 25889189, 25940109, 26002027, 26178430, 26331842, 26347074, 26360328, 26526644, 26599381, 27217550, 27283393, 27541384, 27548383, 27708262, 28446606, 28862099, 28898393, 29296024, 29311362, 29766667, 30252881, 30260727, 30341905, 30514861, 30808881, 30872678, 31092671, 31350414, 31405953, 31513650, 6987762, 7591872, 7734418, 8872174, 9037047, 9174150, 9203029, 9243757, 9509902, 9568801, 9575677, 9712354, 9714478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	LHGDN	12028538, 12622781, 12918696, 15158619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	ORPHANET_DG	20622878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CTD_human_DG	20622878, 23396137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	GWASDB_DG	23001997, 23041938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	17085834, 17219382, 21989411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	BEFREE	3512189		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	3422129		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	2473473, 2649129		★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	16206270		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	18497950		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16651449, 30833945, 31552488		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191, 28604730		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30898307		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20575592, 8740767		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	23831258, 7758869		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	26010309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	30995924		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15496958, 15893697, 17767549, 22320938, 24520070, 25267060, 30383862, 31800372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	15496958, 15893697, 17767549, 22320938, 24520070, 25267060, 30383862, 31800372		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22350167, 25545232, 30655602		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	6954127		★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	26161794		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24603486, 25380295		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30529060		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	30529060		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	23144326		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	26339134		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	10090614		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30630166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	2462591		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	1517566, 1905582, 1912515, 2462591		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	16542878		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28757339, 29075265, 29287219		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	92196		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	LHGDN	17551464, 18777204		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	1977680, 2897792, 3009598, 6288753, 6372675, 692595, 9556656		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	31302275		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	25261962		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10077163		★☆☆☆☆ Found in Text Mining only
Corneal degeneration	Corneal degeneration	BEFREE	23388055		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	20626023		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	26669670		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11782275, 14530653, 15352892, 23942620, 25373727, 26891255, 29093622		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	23128233, 26192919, 26891255		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31690398		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	25876828		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	7283007		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31446684, 31570195		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	18007983, 27558172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	LHGDN	18007983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	CTD_human_DG	18007983, 3084782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	GWASDB_DG	23042114		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	23042114, 25574825		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	22006066, 22125590		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	28508950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	CTD_human_DG	3501473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis, Childhood Type	Dermatomyositis	CTD_human_DG	3501473		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18065518, 21533899, 23712485, 29657148, 6814597		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18065518, 21533899, 23712485, 27696192, 29657148, 6814597		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10319267, 10703602, 10803866, 10819246, 11118029, 12366785, 15663750, 15784469, 18004301, 18830248, 18987644, 19500315, 21533899, 23462545, 24055898, 2570596, 2572498, 27623983, 28185422, 29545461, 29632144, 31660582, 3856383, 3987976, 6594040, 6952765, 8307785		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30806329		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	GWASCAT_DG	25261932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26189878, 29735552, 31215275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	10677310, 12185533, 17350353, 20981447, 9927368		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	2971591		★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	15057820, 16538176, 18855540, 19694795, 19915237, 20235791, 20485159, 21428768, 25099164		★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	25327504		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	9479594		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	22795247		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	20074602		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	24579822		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	BEFREE	8272443		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25724317		★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	29361203, 29429762, 30936281, 31077258, 31401572		★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18627414, 22053601, 22955130, 23895569, 24399721, 26888992, 27757065, 28346659, 29685430, 31158306		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	12198697, 21513758		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19392852		★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	7285293		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	10084692		★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	2426907		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29885883		★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	23329888		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	3162222		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27241060		★☆☆☆☆ Found in Text Mining only
Flexion contracture of hip	Flexion Contracture Of Hip	BEFREE	31505016		★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	BEFREE	30850646		★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	GWASCAT_DG	30850646		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	2396258		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	17003171, 25817017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	19774073		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11519856, 21520005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	14511464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycosuria, Renal	Glycosuria, Renal	BEFREE	6524599		★☆☆☆☆ Found in Text Mining only
Gout	Gout	BEFREE	26554739		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	23893313, 29335631, 31669248, 9780337		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	17597093, 23329888, 26029868, 28931918, 29987165, 395558, 579351, 581239, 8026987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASDB_DG	21900946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	23020308, 24285682		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	20353833		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	3460331, 7666396, 8328453, 9616322		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	3460331, 8328453		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	12889998		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	12889998		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	12022355, 22370889, 25889603		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	2109447, 3460331, 9510559		★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	BEFREE	31505016		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	24963477		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23712485		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30934611		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	28191455		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16078323, 26669670, 29657148, 31529687		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	4076206		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	21501118, 28566086, 29642234		★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	22723329		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	26362759		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	7314067		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24167351		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16133177, 22784404		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	16984282, 2573592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	GWASDB_DG	22197929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31233465		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	20977916		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10319267, 22090105		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	21543121		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	12198697		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10648455, 12198697, 14530653, 15352892, 23830516, 28449344, 28620302, 29093622, 31067630, 31154418, 31771630		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	16206270		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	9510559		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	10648455, 31154418		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30995924		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	26314893, 30884197		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	BEFREE	6987762		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	15902698, 26268853, 31105266		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	20575592		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24603486, 25380295		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	18497950		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	GWASDB_DG	20018961		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	22031078		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12010826, 15730521, 16133450, 16712651, 20636283, 27987261, 28371391, 30614213, 30647027		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24364037, 26199258, 27297335, 28520526, 291140, 30051604, 30647027, 31733047, 6785965		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11485622		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30767710		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	20073992, 23840581		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14999597, 23459080		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15942906		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	3011632, 3162222		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	27100735		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15323271		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1401069, 1672123, 21342137, 23448612, 28508950		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	14748996		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26334430		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	26189878		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	18301962, 27063556		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	LHGDN	18344933		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	14511464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17085834, 17219382, 21989411		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	2396258		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16651449, 30833945, 31552488		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27100735		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14770085, 27102235		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30673077, 31365656		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16541432, 19883394		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11251973, 11679920, 12691704, 16707616, 26546620, 27776339, 28789346		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15496958, 15893697, 17767549, 22320938, 24520070, 25267060, 31800372		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16188571		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31646075		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	25569183		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10079292, 10363990, 10597191, 10790436, 11132148, 11251973, 15713214, 16247014, 16365741, 17096150, 18612636, 25838620, 8027550, 9935159		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASCAT_DG	21323541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	31446684, 31570195		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30770507, 8272443		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	8027550		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	14511464		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	GWASCAT_DG	26007630		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG	14676447		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	11989974		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	LHGDN	18064508		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	20626023, 25809546		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	26007630		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12135438, 16671949, 17584771, 18588574, 20463743, 20713950, 21441263, 27797002, 29587799, 30653506, 31382992, 6597862, 91230, 9894852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16459714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	17922429		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	3461893		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	10319267, 14700596, 23055271, 27802446, 29036181, 29037440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	CTD_human_DG	6402089, 6605118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis, Generalized	Myasthenia Gravis	CTD_human_DG	6402089, 6605118		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis, Ocular	Myasthenia Gravis	BEFREE	25953150		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis, Ocular	Myasthenia Gravis	CTD_human_DG	6402089, 6605118		★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	15057820, 16538176, 18855540, 19694795, 19915237, 20235791, 20485159, 21428768, 25099164		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30655602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12879429, 21840597		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	23830818		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12426569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	12366785		★☆☆☆☆ Found in Text Mining only
Nail Diseases	Nail Diseases	BEFREE	26526644, 27974100		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18922348		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12074714, 12464650, 16547745, 17609824, 19683024, 20072141, 29676515, 30378292		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	GWASCAT_DG	20512145, 27436580		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11251973, 12480922, 12591737, 15104676, 16206270, 1849792, 18820911, 2649129, 27297335, 27506946, 27895918, 28806749, 30833945, 9973437		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	CTD_human_DG	3084782		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	6594042		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27069083, 27125551		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30767710		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Ankylosing spondylitis	Ankylosing Spondylitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28202737		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31002754		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	8867075		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28191455		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31851643		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	24917365		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	22471616		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27100735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	12717273		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	25582808		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24308748		★☆☆☆☆ Found in Text Mining only
Paraproteinemias	Paraproteinemia	GWASCAT_DG	26007630		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	7148400		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	7148400		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	26161794		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	11841366, 23330836, 28197992		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	BEFREE	23329888		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29742276		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28922848		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	LHGDN	15046556		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	26291516, 28508950		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31310798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	BEFREE	30850646		★☆☆☆☆ Found in Text Mining only
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	GWASCAT_DG	30850646		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	24364037, 25545232		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	1672123		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	11313318, 24517468, 24744588, 25521205, 25655558, 27558072		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	GWASCAT_DG	31482010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	14770085, 27102235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	22931407, 30932338		★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15140030, 16297191, 16532100, 17101473, 18381784, 19232079, 19680446, 21457151, 21900282, 21985130, 22125590, 22577363, 22586163, 23600465, 23611695, 23830516, 25176018, 25415529, 26002027, 26526644, 27913376, 28202737, 28386763, 28821532, 28898393, 31773391, 6179364, 6204483, 9259283, 9634500, 9694251, 9694354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	17587057, 18364390, 18369459, 19169254, 20953188, 20953190, 23143594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	18364390, 18369459, 19169254, 20953188, 20953190, 23143594, 26626624, 30921485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	18381784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	10090613, 23600465, 25087609, 694906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	15949652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24167351		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension associated with connective tissue disease	Pulmonary Arterial Hypertension Associated With Connective Tissue Disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension associated with connective tissue disease	Pulmonary Arterial Hypertension Associated With Connective Tissue Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16078323		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10077163		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	20575592, 26996548		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	8504512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	1672123, 22286218, 2565608, 28391248, 28473425, 28508950, 29181394, 29435070, 30093849, 30217207, 6214529, 7842529, 9395559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis	Rhinitis	LHGDN	18782112		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	19210881, 27913376, 27974100, 28632339, 31130248		★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	6413688		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	14656748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	LHGDN	17767551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASDB_DG	22952805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26651848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	16960807, 22004985, 29574260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16960807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16960807, 22004985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	16415921, 16538176, 17509004, 18085998, 18192896, 18385790, 18637831, 19018717, 19321411, 19694795, 19696695, 19915237, 20001755, 20235791, 20345939, 20504258, 20536296, 20962567, 21162721, 21204807, 21244392, 21306565, 21334226, 21342226, 21354501, 21397523, 21424386, 21428768, 21676164, 21790926, 21801394, 21802305, 21906289, 21917426, 21924464, 22041139, 22277675, 22322005, 22541332, 22955130, 23132554, 23551241, 23588310, 23649893, 23692434, 23884208, 24236482, 24268988, 24394201, 24399721, 24732692, 24781922, 25099678, 25305458, 25327504, 25428396, 25918017, 25970075, 26086150, 26632391, 26655481, 26927288, 26928377, 26951484, 27154258, 27544047, 27888155, 27916277, 28017537, 28203102, 28278336, 28509689, 28857441, 29053440, 29162886, 29176400, 29370880, 29392710, 29685430, 29706602, 30018035, 30826555, 31089385, 31314143, 31700100, 31784043		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	3498440		★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	19052350		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26241854		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	12969506, 15243926		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	LHGDN	15243926		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	19845894		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	29021373, 31711644		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	31365656		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30582512		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31376894		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	10405941, 10648455, 12759462, 12889998, 15665390, 16575857, 17599742, 18493767, 23430249, 27863065, 27899002, 28632339, 28649913, 29449504, 29587851, 29675414, 30079593, 30177859, 30301938, 30385702, 30884197, 31092715, 31431486, 31436026, 31436036, 31666997, 31741083, 31762225, 31781672		★☆☆☆☆ Found in Text Mining only
Spontaneous pneumothorax	Spontaneous pneumothorax	BEFREE	31376894		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27895918		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24716975, 25556465		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17002899		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	22310063		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	11956863		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	15057820, 17509004, 17620823, 18192896, 18627414, 18637831, 18855540, 18991696, 19018717, 19262378, 19694795, 19696695, 19915237, 20001755, 21169036, 21204807, 21216202, 21244392, 21334226, 21397523, 21424386, 21428769, 21676164, 21801394, 21802305, 21906289, 22003912, 22277675, 22322005, 22348415, 22348435, 22882221, 22955130, 23132554, 23635947, 23692434, 23884208, 24050155, 24268988, 24399721, 24732692, 24777842, 24781922, 25099678, 25266342, 25305458, 25338670, 25428396, 26254050, 26319500, 26554739, 26888992, 27020614, 27060780, 27096699, 27544047, 27916277, 28017537, 28203102, 28205426, 28358139, 28440597, 28476759, 28553132, 28570299, 29176400, 29392710, 29636628, 29642234, 29706602, 30826555, 31690398, 31784043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	LHGDN	15057820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	15057820, 16538176, 18855540, 19694795, 19915237, 20235791, 20485159, 21428768, 25099164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	GWASCAT_DG	28062682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson syndrome	Stevens-Johnson Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	15057820, 16538176, 18855540, 19694795, 19915237, 20235791, 20485159, 21428768, 25099164		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	BEFREE	20504258, 21354503, 22277675, 23600531, 24399721, 24597466, 25918017, 26488421, 27020614, 27544047, 28346659, 28885988, 29053440, 29076187, 29176400, 30015149, 30242287, 31066027		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16541432, 19883394		★☆☆☆☆ Found in Text Mining only
Synovial Hypertrophy	Synovial Hypertrophy	CTD_human_DG	12648975		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	CTD_human_DG	12648975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synovitis	Synovitis	BEFREE	3498032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	25993664, 26161794, 28508950		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	10980346, 10980348, 10980349, 15585327, 17462513, 18646257, 22309845, 23830516, 23830517, 23873822, 24548718, 25931203, 26178430, 27815653, 28261975, 28449344, 28756073, 28968792, 30498034, 7903491, 9119528, 9951811, 9951813		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	LHGDN	15585327, 17462513, 18646257		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	ORPHANET_DG	23830507, 23830516		★☆☆☆☆ Found in Text Mining only
Takayasu arteritis	Takayasu Arteritis	Orphanet			★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533, 30498034		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	19210881		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	31091281		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	17010173		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	15057820, 16538176, 18855540, 19694795, 19915237, 20235791, 20485159, 21428768, 25099164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	16538176, 18192896, 18385790, 18855540, 18991696, 19018717, 19262378, 19696695, 20001755, 20235791, 20345939, 20504258, 20536296, 20962567, 21162721, 21169036, 21204807, 21216202, 21244392, 21306565, 21342226, 21354501, 21397523, 21424386, 21428768, 21676164, 21790926, 21801394, 21802305, 21906289, 21924464, 22277675, 22322005, 22348435, 22955130, 23132554, 23649893, 23692434, 23884208, 23895569, 24236482, 24268988, 24394201, 24399721, 24732692, 24777842, 24781922, 25099678, 25266342, 25305458, 25327504, 25428396, 25918017, 25970075, 26086150, 26319500, 26554739, 26632391, 26655481, 26888992, 26927288, 26928377, 26951484, 27096699, 27154258, 27400826, 27544047, 27916277, 28017537, 28203102, 28278336, 28440597, 28509689, 28570299, 28857441, 29053440, 29162886, 29176400, 29392710, 29636628, 29642234, 29685430, 29706602, 30018035, 30826555, 31314143, 31690398, 31700100, 31784043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	GWASCAT_DG	28062682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichiasis	Trichiasis	BEFREE	18824733		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	20430493		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11782275, 12878361, 14530653, 15215890, 19493234, 23942620, 25931203, 26940143, 28968792, 8096500, 9213257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urticaria	Urticaria	LHGDN	18520158		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	18381784, 21429233, 21483994, 23831258, 24498994, 27428175, 27541384, 28080174, 29474135, 30010461, 30028807, 30891043, 31674159, 6987762, 9501876, 9744378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis, Posterior	Uveitis	BEFREE	16957887, 23831258		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	60795, 6987762		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	10980349, 17003171, 22309845, 24887019, 25889603		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	20526339		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20526339		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	21833019, 22125590		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	21833019, 22125590		★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	26662388		★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	BEFREE	28391407		★☆☆☆☆ Found in Text Mining only