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

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3105
• Gene name: Major histocompatibility complex, class I, A
• Gene symbol: HLA-A
• Synonyms (NCBI Gene): HLAA
• Chromosome: 6
• Chromosome location: 6p22.1
• Summary: HLA-A 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1061235	A>T	Risk-factor	3 prime UTR variant

miRNA Show/Hide all (303)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019424	hsa-miR-148b-3p	Microarray	17612493
MIRT021411	hsa-miR-9-5p	Microarray	17612493
MIRT022132	hsa-miR-124-3p	Microarray	18668037
MIRT025003	hsa-miR-183-5p	Sequencing	20371350
MIRT040433	hsa-miR-615-3p	CLASH	23622248
MIRT454223	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454221	hsa-miR-4510	PAR-CLIP	23592263
MIRT454220	hsa-miR-6127	PAR-CLIP	23592263
MIRT454219	hsa-miR-6129	PAR-CLIP	23592263
MIRT454218	hsa-miR-6130	PAR-CLIP	23592263
MIRT454217	hsa-miR-6133	PAR-CLIP	23592263
MIRT454216	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT454215	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT454214	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT454213	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT454212	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT454211	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT454210	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT454209	hsa-miR-3175	PAR-CLIP	23592263
MIRT454208	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT454207	hsa-miR-2110	PAR-CLIP	23592263
MIRT454206	hsa-miR-6810-5p	PAR-CLIP	23592263
MIRT454205	hsa-miR-6857-5p	PAR-CLIP	23592263
MIRT454204	hsa-miR-450a-2-3p	PAR-CLIP	23592263
MIRT401722	hsa-miR-6854-5p	PAR-CLIP	23592263
MIRT454203	hsa-miR-4756-3p	PAR-CLIP	23592263
MIRT218522	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT019424	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT218523	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT218527	hsa-miR-8060	PAR-CLIP	23592263
MIRT392109	hsa-miR-4670-3p	PAR-CLIP	23592263
MIRT454202	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT454201	hsa-miR-1273f	PAR-CLIP	23592263
MIRT454199	hsa-miR-4534	PAR-CLIP	23592263
MIRT454200	hsa-miR-8082	PAR-CLIP	23592263
MIRT218525	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT454198	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT454197	hsa-miR-3672	PAR-CLIP	23592263
MIRT454195	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT440499	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440499	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT454201	hsa-miR-1273f	PAR-CLIP	26701625
MIRT454198	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT218522	hsa-miR-148a-3p	PAR-CLIP	26701625
MIRT019424	hsa-miR-148b-3p	PAR-CLIP	26701625
MIRT218523	hsa-miR-152-3p	PAR-CLIP	26701625
MIRT454197	hsa-miR-3672	PAR-CLIP	26701625
MIRT454202	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT454199	hsa-miR-4534	PAR-CLIP	26701625
MIRT392109	hsa-miR-4670-3p	PAR-CLIP	26701625
MIRT454203	hsa-miR-4756-3p	PAR-CLIP	26701625
MIRT401722	hsa-miR-6854-5p	PAR-CLIP	26701625
MIRT454195	hsa-miR-6864-3p	PAR-CLIP	26701625
MIRT218525	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT218527	hsa-miR-8060	PAR-CLIP	26701625
MIRT454200	hsa-miR-8082	PAR-CLIP	26701625
MIRT454223	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454221	hsa-miR-4510	PAR-CLIP	23592263
MIRT454220	hsa-miR-6127	PAR-CLIP	23592263
MIRT454219	hsa-miR-6129	PAR-CLIP	23592263
MIRT454218	hsa-miR-6130	PAR-CLIP	23592263
MIRT454217	hsa-miR-6133	PAR-CLIP	23592263
MIRT454216	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT454215	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT454214	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT454213	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT454212	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT454211	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT454210	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT454209	hsa-miR-3175	PAR-CLIP	23592263
MIRT454208	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT454207	hsa-miR-2110	PAR-CLIP	23592263
MIRT454206	hsa-miR-6810-5p	PAR-CLIP	23592263
MIRT454205	hsa-miR-6857-5p	PAR-CLIP	23592263
MIRT454204	hsa-miR-450a-2-3p	PAR-CLIP	23592263
MIRT401722	hsa-miR-6854-5p	PAR-CLIP	23592263
MIRT454203	hsa-miR-4756-3p	PAR-CLIP	23592263
MIRT218522	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT019424	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT218523	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT218527	hsa-miR-8060	PAR-CLIP	23592263
MIRT392109	hsa-miR-4670-3p	PAR-CLIP	23592263
MIRT454202	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT454201	hsa-miR-1273f	PAR-CLIP	23592263
MIRT454199	hsa-miR-4534	PAR-CLIP	23592263
MIRT454200	hsa-miR-8082	PAR-CLIP	23592263
MIRT218525	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT454198	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT454197	hsa-miR-3672	PAR-CLIP	23592263
MIRT454195	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT1048273	hsa-miR-1252	CLIP-seq
MIRT1048274	hsa-miR-148a	CLIP-seq
MIRT1048275	hsa-miR-148b	CLIP-seq
MIRT1048276	hsa-miR-152	CLIP-seq
MIRT1048277	hsa-miR-3185	CLIP-seq
MIRT1048278	hsa-miR-3202	CLIP-seq
MIRT1048279	hsa-miR-4436b-3p	CLIP-seq
MIRT1048280	hsa-miR-4533	CLIP-seq
MIRT1048281	hsa-miR-4735-5p	CLIP-seq
MIRT1048282	hsa-miR-4747-5p	CLIP-seq
MIRT1048283	hsa-miR-4775	CLIP-seq
MIRT1048284	hsa-miR-590-3p	CLIP-seq
MIRT1048285	hsa-miR-633	CLIP-seq
MIRT1048286	hsa-miR-873	CLIP-seq
MIRT1048273	hsa-miR-1252	CLIP-seq
MIRT1048277	hsa-miR-3185	CLIP-seq
MIRT1048280	hsa-miR-4533	CLIP-seq
MIRT1048282	hsa-miR-4747-5p	CLIP-seq
MIRT1048283	hsa-miR-4775	CLIP-seq
MIRT1048284	hsa-miR-590-3p	CLIP-seq
MIRT1048285	hsa-miR-633	CLIP-seq
MIRT1556518	hsa-miR-1224-3p	CLIP-seq
MIRT1556519	hsa-miR-1293	CLIP-seq
MIRT1556520	hsa-miR-3138	CLIP-seq
MIRT1556521	hsa-miR-3165	CLIP-seq
MIRT1556522	hsa-miR-3183	CLIP-seq
MIRT1556523	hsa-miR-323-5p	CLIP-seq
MIRT1556524	hsa-miR-342-5p	CLIP-seq
MIRT1556525	hsa-miR-4323	CLIP-seq
MIRT1556526	hsa-miR-4483	CLIP-seq
MIRT1556527	hsa-miR-4651	CLIP-seq
MIRT1556528	hsa-miR-4664-5p	CLIP-seq
MIRT1556529	hsa-miR-4690-3p	CLIP-seq
MIRT1556530	hsa-miR-4723-3p	CLIP-seq
MIRT1556531	hsa-miR-4758-3p	CLIP-seq
MIRT1556532	hsa-miR-608	CLIP-seq
MIRT1920049	hsa-miR-1297	CLIP-seq
MIRT1920050	hsa-miR-26a	CLIP-seq
MIRT1920051	hsa-miR-26b	CLIP-seq
MIRT1920052	hsa-miR-298	CLIP-seq
MIRT1920053	hsa-miR-3121-5p	CLIP-seq
MIRT1920054	hsa-miR-3665	CLIP-seq
MIRT1920055	hsa-miR-3678-3p	CLIP-seq
MIRT1920056	hsa-miR-4465	CLIP-seq
MIRT1920057	hsa-miR-4643	CLIP-seq
MIRT1920058	hsa-miR-642b	CLIP-seq
MIRT1920059	hsa-miR-657	CLIP-seq
MIRT1920060	hsa-miR-764	CLIP-seq
MIRT1920052	hsa-miR-298	CLIP-seq
MIRT1920053	hsa-miR-3121-5p	CLIP-seq
MIRT1920055	hsa-miR-3678-3p	CLIP-seq
MIRT1048282	hsa-miR-4747-5p	CLIP-seq
MIRT1556518	hsa-miR-1224-3p	CLIP-seq
MIRT1556519	hsa-miR-1293	CLIP-seq
MIRT1920049	hsa-miR-1297	CLIP-seq
MIRT2437592	hsa-miR-1299	CLIP-seq
MIRT1048274	hsa-miR-148a	CLIP-seq
MIRT1048275	hsa-miR-148b	CLIP-seq
MIRT1048276	hsa-miR-152	CLIP-seq
MIRT2437593	hsa-miR-224	CLIP-seq
MIRT1920050	hsa-miR-26a	CLIP-seq
MIRT1920051	hsa-miR-26b	CLIP-seq
MIRT1920052	hsa-miR-298	CLIP-seq
MIRT1920053	hsa-miR-3121-5p	CLIP-seq
MIRT1556520	hsa-miR-3138	CLIP-seq
MIRT2437594	hsa-miR-3150a-3p	CLIP-seq
MIRT2437595	hsa-miR-3152-5p	CLIP-seq
MIRT1556521	hsa-miR-3165	CLIP-seq
MIRT1556522	hsa-miR-3183	CLIP-seq
MIRT1048277	hsa-miR-3185	CLIP-seq
MIRT1048278	hsa-miR-3202	CLIP-seq
MIRT1556523	hsa-miR-323-5p	CLIP-seq
MIRT2437596	hsa-miR-326	CLIP-seq
MIRT2437597	hsa-miR-330-5p	CLIP-seq
MIRT1556524	hsa-miR-342-5p	CLIP-seq
MIRT1920054	hsa-miR-3665	CLIP-seq
MIRT1920055	hsa-miR-3678-3p	CLIP-seq
MIRT1556525	hsa-miR-4323	CLIP-seq
MIRT1048279	hsa-miR-4436b-3p	CLIP-seq
MIRT1920056	hsa-miR-4465	CLIP-seq
MIRT1556526	hsa-miR-4483	CLIP-seq
MIRT1920057	hsa-miR-4643	CLIP-seq
MIRT1556527	hsa-miR-4651	CLIP-seq
MIRT1556528	hsa-miR-4664-5p	CLIP-seq
MIRT1556529	hsa-miR-4690-3p	CLIP-seq
MIRT2437598	hsa-miR-4719	CLIP-seq
MIRT1556530	hsa-miR-4723-3p	CLIP-seq
MIRT1048282	hsa-miR-4747-5p	CLIP-seq
MIRT1556531	hsa-miR-4758-3p	CLIP-seq
MIRT1556532	hsa-miR-608	CLIP-seq
MIRT1920058	hsa-miR-642b	CLIP-seq
MIRT1920059	hsa-miR-657	CLIP-seq
MIRT1920060	hsa-miR-764	CLIP-seq
MIRT1048286	hsa-miR-873	CLIP-seq
MIRT2437599	hsa-miR-875-3p	CLIP-seq
MIRT2437600	hsa-miR-939	CLIP-seq
MIRT2451227	hsa-miR-188-3p	CLIP-seq
MIRT2451228	hsa-miR-1910	CLIP-seq
MIRT2451229	hsa-miR-3714	CLIP-seq
MIRT2451230	hsa-miR-4457	CLIP-seq
MIRT2451231	hsa-miR-455-3p	CLIP-seq
MIRT2451232	hsa-miR-4731-3p	CLIP-seq
MIRT2451233	hsa-miR-4801	CLIP-seq
MIRT1556518	hsa-miR-1224-3p	CLIP-seq
MIRT1556519	hsa-miR-1293	CLIP-seq
MIRT1920049	hsa-miR-1297	CLIP-seq
MIRT2437592	hsa-miR-1299	CLIP-seq
MIRT2451227	hsa-miR-188-3p	CLIP-seq
MIRT2451228	hsa-miR-1910	CLIP-seq
MIRT2437593	hsa-miR-224	CLIP-seq
MIRT2546413	hsa-miR-23a	CLIP-seq
MIRT2546414	hsa-miR-23b	CLIP-seq
MIRT2546415	hsa-miR-23c	CLIP-seq
MIRT1920050	hsa-miR-26a	CLIP-seq
MIRT1920051	hsa-miR-26b	CLIP-seq
MIRT1920052	hsa-miR-298	CLIP-seq
MIRT1920053	hsa-miR-3121-5p	CLIP-seq
MIRT1556520	hsa-miR-3138	CLIP-seq
MIRT2437594	hsa-miR-3150a-3p	CLIP-seq
MIRT2437595	hsa-miR-3152-5p	CLIP-seq
MIRT1556521	hsa-miR-3165	CLIP-seq
MIRT1556522	hsa-miR-3183	CLIP-seq
MIRT1048278	hsa-miR-3202	CLIP-seq
MIRT1556523	hsa-miR-323-5p	CLIP-seq
MIRT2437596	hsa-miR-326	CLIP-seq
MIRT2437597	hsa-miR-330-5p	CLIP-seq
MIRT1556524	hsa-miR-342-5p	CLIP-seq
MIRT1920054	hsa-miR-3665	CLIP-seq
MIRT1920055	hsa-miR-3678-3p	CLIP-seq
MIRT2451229	hsa-miR-3714	CLIP-seq
MIRT2546416	hsa-miR-4264	CLIP-seq
MIRT2546417	hsa-miR-4286	CLIP-seq
MIRT1556525	hsa-miR-4323	CLIP-seq
MIRT1048279	hsa-miR-4436b-3p	CLIP-seq
MIRT2451230	hsa-miR-4457	CLIP-seq
MIRT1920056	hsa-miR-4465	CLIP-seq
MIRT1556526	hsa-miR-4483	CLIP-seq
MIRT2451231	hsa-miR-455-3p	CLIP-seq
MIRT2546418	hsa-miR-4633-5p	CLIP-seq
MIRT1920057	hsa-miR-4643	CLIP-seq
MIRT1556527	hsa-miR-4651	CLIP-seq
MIRT1556528	hsa-miR-4664-5p	CLIP-seq
MIRT1556529	hsa-miR-4690-3p	CLIP-seq
MIRT2437598	hsa-miR-4719	CLIP-seq
MIRT1556530	hsa-miR-4723-3p	CLIP-seq
MIRT2451232	hsa-miR-4731-3p	CLIP-seq
MIRT1048282	hsa-miR-4747-5p	CLIP-seq
MIRT1556531	hsa-miR-4758-3p	CLIP-seq
MIRT2546419	hsa-miR-4797-3p	CLIP-seq
MIRT2451233	hsa-miR-4801	CLIP-seq
MIRT2546420	hsa-miR-532-5p	CLIP-seq
MIRT1556532	hsa-miR-608	CLIP-seq
MIRT1920058	hsa-miR-642b	CLIP-seq
MIRT1920059	hsa-miR-657	CLIP-seq
MIRT1920060	hsa-miR-764	CLIP-seq
MIRT1048286	hsa-miR-873	CLIP-seq
MIRT2437599	hsa-miR-875-3p	CLIP-seq
MIRT2437600	hsa-miR-939	CLIP-seq
MIRT1556518	hsa-miR-1224-3p	CLIP-seq
MIRT1556519	hsa-miR-1293	CLIP-seq
MIRT1920049	hsa-miR-1297	CLIP-seq
MIRT2437592	hsa-miR-1299	CLIP-seq
MIRT2451227	hsa-miR-188-3p	CLIP-seq
MIRT2451228	hsa-miR-1910	CLIP-seq
MIRT2437593	hsa-miR-224	CLIP-seq
MIRT2546413	hsa-miR-23a	CLIP-seq
MIRT2546414	hsa-miR-23b	CLIP-seq
MIRT2546415	hsa-miR-23c	CLIP-seq
MIRT1920050	hsa-miR-26a	CLIP-seq
MIRT1920051	hsa-miR-26b	CLIP-seq
MIRT1920052	hsa-miR-298	CLIP-seq
MIRT1920053	hsa-miR-3121-5p	CLIP-seq
MIRT1556520	hsa-miR-3138	CLIP-seq
MIRT2437594	hsa-miR-3150a-3p	CLIP-seq
MIRT2437595	hsa-miR-3152-5p	CLIP-seq
MIRT1556521	hsa-miR-3165	CLIP-seq
MIRT1556522	hsa-miR-3183	CLIP-seq
MIRT1048278	hsa-miR-3202	CLIP-seq
MIRT1556523	hsa-miR-323-5p	CLIP-seq
MIRT2437596	hsa-miR-326	CLIP-seq
MIRT2437597	hsa-miR-330-5p	CLIP-seq
MIRT1556524	hsa-miR-342-5p	CLIP-seq
MIRT1920054	hsa-miR-3665	CLIP-seq
MIRT1920055	hsa-miR-3678-3p	CLIP-seq
MIRT2451229	hsa-miR-3714	CLIP-seq
MIRT2546416	hsa-miR-4264	CLIP-seq
MIRT2546417	hsa-miR-4286	CLIP-seq
MIRT1556525	hsa-miR-4323	CLIP-seq
MIRT1048279	hsa-miR-4436b-3p	CLIP-seq
MIRT2451230	hsa-miR-4457	CLIP-seq
MIRT1920056	hsa-miR-4465	CLIP-seq
MIRT1556526	hsa-miR-4483	CLIP-seq
MIRT2451231	hsa-miR-455-3p	CLIP-seq
MIRT2546418	hsa-miR-4633-5p	CLIP-seq
MIRT1920057	hsa-miR-4643	CLIP-seq
MIRT1556527	hsa-miR-4651	CLIP-seq
MIRT1556528	hsa-miR-4664-5p	CLIP-seq
MIRT1556529	hsa-miR-4690-3p	CLIP-seq
MIRT2437598	hsa-miR-4719	CLIP-seq
MIRT1556530	hsa-miR-4723-3p	CLIP-seq
MIRT2451232	hsa-miR-4731-3p	CLIP-seq
MIRT1048282	hsa-miR-4747-5p	CLIP-seq
MIRT1556531	hsa-miR-4758-3p	CLIP-seq
MIRT2546419	hsa-miR-4797-3p	CLIP-seq
MIRT2451233	hsa-miR-4801	CLIP-seq
MIRT2546420	hsa-miR-532-5p	CLIP-seq
MIRT1556532	hsa-miR-608	CLIP-seq
MIRT1920058	hsa-miR-642b	CLIP-seq
MIRT1920059	hsa-miR-657	CLIP-seq
MIRT1920060	hsa-miR-764	CLIP-seq
MIRT1048286	hsa-miR-873	CLIP-seq
MIRT2437599	hsa-miR-875-3p	CLIP-seq
MIRT2437600	hsa-miR-939	CLIP-seq

Transcription factors Show/Hide all (6)

Transcription factor	Regulation	Reference
CIITA	Activation	10329350
HIVEP2	Unknown	1409593
IRF1	Activation	19428110
MYC	Activation	8206526
MYCN	Unknown	8895520
RELA	Activation	19428110

Gene ontology (GO) Show/Hide all (79)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001913	Process	T cell mediated cytotoxicity	IDA	7504010
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IBA
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IDA	2420472, 8805302, 22031944, 25631937
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002419	Process	T cell mediated cytotoxicity directed against tumor cell target	IDA	1402688, 17189421, 20364150
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:0002485	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent	IMP	8630735
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:0002502	Process	Peptide antigen assembly with MHC class I protein complex	IDA	36104323
GO:0002726	Process	Positive regulation of T cell cytokine production	IDA	24643698
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	19124746
GO:0005515	Function	Protein binding	IPI	9177355, 12414957, 20946353, 23401559, 26869717
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	8805302, 20946353
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	20946353
GO:0005797	Component	Golgi medial cisterna	IDA	8805302
GO:0005886	Component	Plasma membrane	IDA	2784196, 8630735
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1431115, 2437024, 2478623, 2715640, 6609814, 8188325
GO:0005886	Component	Plasma membrane	TAS
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	1431115, 2437024, 2478623, 2715640, 6609814, 8188325
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	8805302, 8839770, 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:0016045	Process	Detection of bacterium	IMP	22321387
GO:0019731	Process	Antibacterial humoral response	IDA	25631937
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA	1402688, 20364150, 24643698
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0030881	Function	Beta-2-microglobulin binding	IC	25631937
GO:0030881	Function	Beta-2-microglobulin binding	IDA	3309677, 7694806, 8805302, 8906788
GO:0030881	Function	Beta-2-microglobulin binding	IMP	23566939
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0032729	Process	Positive regulation of type II interferon production	IDA	22031944
GO:0036037	Process	CD8-positive, alpha-beta T cell activation	IDA	1402688, 2784196, 7504010, 8630735, 12138174, 17189421, 20364150
GO:0042270	Process	Protection from natural killer cell mediated cytotoxicity	IDA	18502829
GO:0042270	Process	Protection from natural killer cell mediated cytotoxicity	IDA	8839770, 18502829
GO:0042590	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I	IDA	7504010, 12138174
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042605	Function	Peptide antigen binding	IDA	1402688, 7504010, 7694806, 8805302, 8839770, 8906788, 8955188, 9177355, 10435578, 17189421, 20364150, 22031944, 24643698, 25631937
GO:0042605	Function	Peptide antigen binding	IMP	23566939
GO:0042608	Function	T cell receptor binding	IDA	8906788, 8955188, 10435578
GO:0042610	Function	CD8 receptor binding	IDA	2784196
GO:0042612	Component	MHC class I protein complex	IDA	7694806, 8805302, 8906788, 22031944, 25631937
GO:0042612	Component	MHC class I protein complex	IEA
GO:0042824	Component	MHC class I peptide loading complex	IDA	21263072
GO:0045087	Process	Innate immune response	IEA
GO:0046977	Function	TAP binding	IDA	8617941, 8805302
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	25631937
GO:0050852	Process	T cell receptor signaling pathway	IDA	10435578
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0062061	Function	TAP complex binding	IDA	8630735
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19199708, 20458337
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	20946353
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IEA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS
GO:2000566	Process	Positive regulation of CD8-positive, alpha-beta T cell proliferation	IDA	25631937
GO:2000568	Process	Positive regulation of memory T cell activation	IDA	22031944
GO:2001187	Process	Positive regulation of CD8-positive, alpha-beta T cell activation	IDA	24643698

Other IDs

• MIM: 142800
• HGNC: 4931
• e!Ensembl: ENSG00000206503

Protein

• UniProt ID: P04439
• Protein name: HLA class I histocompatibility antigen, A alpha chain (Human leukocyte antigen A) (HLA-A)
• 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: 1AKJ , 1AO7 , 1AQD , 1B0G , 1B0R , 1BD2 , 1DUY , 1DUZ , 1EEY , 1EEZ , 1HHG , 1HHH , 1HHI , 1HHJ , 1HHK , 1HLA , 1HSB , 1I1F , 1I1Y , 1I4F , 1I7R , 1I7T , 1I7U , 1IM3 , 1JF1 , 1JHT , 1LP9 , 1OGA , 1P7Q , 1Q94 , 1QEW , 1QR1 , 1QRN , 1QSE , 1QSF , 1QVO , 1S8D , 1S9W , 1S9X , 1S9Y , 1T1W , 1T1X , 1T1Y , 1T1Z , 1T20 , 1T21 , 1T22 , 1TMC , 1TVB , 1TVH , 1W72
• 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
  PF06623	MHC_I_C	337 → 364	MHC_I C-terminus	Family
  PF07654	C1-set	210 → 290	Immunoglobulin C1-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000305}.
• Sequence:

  MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRF
  DSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQ
  IMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQL
  RAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLT
  WQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEL
  SSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSL
  TACKV

• Sequence length: 365

Pathways

KEGG Pathway	Reactome Pathway
Endocytosis	ER-Phagosome pathway
Phagosome	Endosomal/Vacuolar pathway
Cellular senescence	Nef mediated downregulation of MHC class I complex cell surface expression
Cell adhesion molecules	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Antigen processing and presentation	Neutrophil degranulation
Natural killer cell mediated cytotoxicity	Interferon gamma signaling
Type I diabetes mellitus	E3 ubiquitin ligases ubiquitinate target proteins
Human cytomegalovirus infection	Interferon alpha/beta signaling
Human papillomavirus infection	Antigen Presentation: Folding, assembly and peptide loading of class I MHC
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

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)

Unknown / Other Associations Show/Hide Unknown Diseases (43)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormality of neuronal migration	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ARCH SYNDROMES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	16720216	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIRDSHOT CHORIORETINOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	24474930	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carbamazepine hypersensitivity	risk factor	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	3459889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	14511464	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	38368726, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	CTD	17283154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOID SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAPSORIASIS	—	CTD, Disgenet CTD, Disgenet	16538176	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	38368726	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLERODERMA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe cutaneous adverse reaction	not provided	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	33272962	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOANGIITIS OBLITERANS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	3459889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	33179336	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS, CENTRAL NERVOUS SYSTEM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (414)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	17212707		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	21411999		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	462470, 6453845, 6785965		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21820609, 23178241, 26456260, 30655602, 3209056		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	17990988		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15254047, 9023415, 9096641		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	30709841		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29555781		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	2473473		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	2820223		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21820609, 23178241, 26456260, 30655602, 3209056		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	14676113		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17119058, 17630352, 28334025, 30123963		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29615432		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11159527, 11485622, 11559817, 16014972, 24389072, 28724766		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	16267409		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19728932		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	12941076		★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	BEFREE	16185849		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	10203251		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	10203251		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	3484440		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	10090616, 14969772, 25626601, 2789045, 3264696, 3876437		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	LHGDN	14969772		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	23749187		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29358173		★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	3148382		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	12917841, 17321339		★☆☆☆☆ Found in Text Mining only
Aortitis Syndrome	Aortitis Syndrome	BEFREE	6120922		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	16704965, 28902578, 462470, 6574613		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31306045		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	21429233, 23448612		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	18381784, 30826962, 6932404, 9008306		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	LHGDN	18381784		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	30552173		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	23990522		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	6811515, 7192296		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	1675045		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31306045		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21084121		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	16720216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16720216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	17006990, 26807576, 31211758, 9328330		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16698425, 18340360, 19500315, 21816777, 25154780, 26787886, 28185422, 29545461, 30520966, 6954729		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	16257267		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	LHGDN	15046556		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	BEFREE	6162064		★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	6162064		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	10674970, 1358857, 16671946, 19684014, 20868569, 21429233, 24821759, 24887019, 27548383, 29766667, 30260727, 30872678, 6956266, 9575677		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10657015		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	30006139		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	22688191		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29869414		★☆☆☆☆ Found in Text Mining only
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	BEFREE	18340360, 25892735, 27609017, 29769354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	ORPHANET_DG	24474930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15455355		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	8063614		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15015764		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11358828, 14555509, 15365776, 15367572, 15729696, 17219382, 20069393, 21989411, 26174627, 26590947, 6336658		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	11179119		★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	8263568		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	22045425		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	1899854, 7141899, 7263312, 7601573		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	2272147, 3422129		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14691914, 17382375, 2462591, 7640226		★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	9225046		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12439606, 15709165, 29191591		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	18764807, 55781, 6603391, 6636110, 6949339, 94703		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12517810		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15893697, 16235173, 17202211, 20501960, 27873494, 28112728, 30488842, 31800372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	16235173, 23024775, 29669936		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10229097, 15893697, 16235173, 17202211, 20501960, 27873494, 28112728, 30488842, 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	21820609, 22350167, 23178241, 26456260, 30655602, 3209056		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	14676113		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29615432		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	2311345		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	6954127		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10329350, 2708822, 3170287, 6204750		★☆☆☆☆ 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, 26518904, 31521393		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	14871853, 25232063, 3163859, 3482989		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26089660, 28079130		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	26339134		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	1760053		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16002679, 17182178, 2462591, 9489488		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15809757		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12480922, 14968119, 15102666, 1517566, 18245491, 1905582, 1912515, 20386466, 21874254, 21947186, 22231555, 2462591, 29541190, 31478431		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16101834		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	6162064		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	12803653, 12850493, 15607698, 25295286		★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	389503		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23997182, 28211154, 30518652, 30737354, 31613998		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	92196		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	27709802, 3258985, 6966250		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	692595		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	30006139		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	6587613		★☆☆☆☆ 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	15173072, 15705910, 16082191, 18698046, 23237922, 27757561		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	25373727, 7399230		★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	BEFREE	7294022		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	11251973		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31690398		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	18827882, 21694773, 7283007		★☆☆☆☆ Found in Text Mining only
Delusional disorder	Delusional Disorder	BEFREE	16786814		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	16267409		★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	6601315		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11890708, 18065518, 20093428, 21270202, 23160529, 23712485, 26224099, 28185422, 3400088, 6954755, 7297796, 7806025		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11890708, 18065518, 20093428, 21270202, 23160529, 23712485, 26224099, 28185422, 3400088, 6954755, 7297796, 7806025, 9361945		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10878475, 12121673, 15784469, 16493087, 17513797, 18004301, 18486765, 18987644, 19011169, 19295542, 19500315, 19966211, 20093428, 20595243, 21270202, 22366579, 22539795, 23160529, 23396399, 23462545, 25154780, 26224099, 26541133, 26824049, 27181214, 28185422, 28300170, 28418115, 28887632, 29343547, 29545461, 3125628, 31660582, 3502557, 3639057, 3865895, 3867179, 3875911, 3987976, 6334218, 6411398, 6451048, 6586708, 6818071, 6944299, 6955994, 6973561, 7024028, 7035484, 7806025, 7835212, 8557177, 8557178, 9201596		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29404672		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	3384181		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	31112572		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	1612203		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	17350353, 9927368		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	29769354, 3254259		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	2971591, 6228137, 6231858		★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	7166208		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	3861773		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31473973		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	20074602		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30474304		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26046144		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythroblastosis, Fetal	Erythroblastosis Fetalis	BEFREE	10480291		★☆☆☆☆ Found in Text Mining only
Erythroderma, Maculopapular	Erythroderma	CTD_human_DG	16538176		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19392852, 24244023, 29541393		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24244023, 29541393		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	7285293		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	10084692, 21407224, 27281613, 28638739, 7466790		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	3162222		★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	BEFREE	27839964		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	3260448, 9698788		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	3260448, 9698788		★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	GWASCAT_DG	30850646		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	12717278, 2396258		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	22842485		★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	8193402		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	6280859		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	1812651, 3861773		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	484674		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15015764, 25126583, 27424145, 30568303		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16322289		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15015764, 19774073, 21626031, 24375541, 25126583, 27424145, 30009488		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11519856, 15015764, 28523518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	14511464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	BEFREE	6403455		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	7834897		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	11698272, 12379888, 15191952, 17378697, 17990988, 19052693, 20335219, 20653428, 25448490, 28638739, 31730699, 7727778, 7728123, 9780337, 9820596		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	77056		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12694583, 1363421, 16698425, 2004473, 20300120, 24285682, 24908204, 26029868, 26791860, 3424333, 8061167, 8306482		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	21900946		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASCAT_DG	21900946		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	26980598		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24285682, 26791860		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	10678555, 15501971, 26429982		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16709854, 20353833, 26784514, 27595289, 30279575		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	11887210, 12850493, 1349563, 15607698, 2338199, 23990522, 2741950, 3460331, 3475981, 6167540, 7847378, 7874124, 7918084, 8328453, 8781118, 8834246, 9306096		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	LHGDN	15740492		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	11500063, 11887210, 12850493, 1349923, 15607698, 23178241, 2338199, 23990522, 2741950, 3460331, 3475981, 6167540, 7835988, 7847378, 8328453, 8781118, 8834246, 9401103		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	3018962		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	3018962		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	3018962		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	22370889		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10519366, 11887210, 1633650, 2109447, 2843458, 3359685, 3460331, 6167540, 7336414, 7649553, 7835988, 7874124, 7913677, 892369, 91216, 9149941, 9358014, 9401103, 9556659		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	11411909		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	12700369		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	17119058, 17630352, 21685826, 24963477, 28334025, 30123963, 6760459, 6954729, 9259400		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	17630352		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	4056408		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	4056408		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31473973		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	3254259		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	154832, 4076206, 6683070, 7200000		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	154832, 7200000		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	6241859		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	22723329		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	16609350, 30146738		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	6332232, 6424039, 90863		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22784404, 26709222		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	12768083		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	GWASDB_DG	22197929		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	GWASCAT_DG	22197929, 26028593		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	6936872, 7749037		★☆☆☆☆ Found in Text Mining only
IgG Deficiency disorder	IgG Deficiency Disorder	BEFREE	12803653, 15607698, 31112572		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	3101347, 6961579, 9572996		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	9777327		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	12964117, 17366634, 9126923		★☆☆☆☆ 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	3498033		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	1615764		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	15607698, 16878186, 892369		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	12115193, 12195624, 17509091, 21179106, 3508038, 3560093, 3769243, 3873701, 7036404, 9802601		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	26268853, 2877328, 6588054		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	6868060		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	2343453, 24603486, 25380295, 26518904, 31521393		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	10564583		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	22031078, 28025823, 87028		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12010826, 12439606, 16133450, 18820130, 19422666, 19703232, 20403145, 21858034, 21982422, 23225417, 24850840, 30890530, 3474040, 7835988		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18841361, 21820609, 22529286, 22931314, 23033942, 24516896, 24758284, 26199258, 26456260, 30640174, 31715305, 6785965, 8338814		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11159527, 11485622, 16014972, 24389072		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	10678555		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14676113, 15807856, 16166448, 16729333, 17767548, 19428110, 23459080, 23903757, 30518652, 8529200		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16675560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASCAT_DG	29784950		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	1760053		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	1760053, 3162222		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16729333, 30518652		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11779754, 19279649, 21658414, 3187991, 3437419, 3461713, 3861001, 3873410, 3878879, 6153898, 6241859, 6401549, 694914		★☆☆☆☆ 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	10417757, 10861473, 16479544, 20308568		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	31215275		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17971052, 22096508		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	LHGDN	18344933		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	LHGDN	17853492		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	14511464		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	7838400		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	10678555, 15501971, 26429982		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	6360077		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14555509, 15365776, 15367572, 15729696, 17219382, 20069393, 21989411, 26174627, 26590947, 31646075		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24244023, 29541393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	12717278, 2396258		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	14676113, 19428110		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12439606, 15709165, 29191591, 8118802		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	19654303, 21725308, 22899653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12717278, 21697763, 27783849, 28241889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10657015, 24149465, 24690990, 27102235		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10735593, 16541432, 16761627, 19883394, 20819431, 24244023, 24398900, 31620857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15807856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	24778045		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11251973, 11536162, 12717278, 15015764, 15269141, 15893697, 16709854, 16864058, 19148489, 21149604, 21165574, 21947186, 21994418, 23437226, 24782321, 27783849, 28344864, 28358435, 29080718, 29282079, 29496759, 29615432, 29674509, 30001747, 30709841, 30880120, 31289029, 31398179, 6572551		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15893697, 16235173, 17202211, 20501960, 27873494, 28112728, 30488842, 31800372		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16002679, 9489488		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	29147614, 31215275		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29615432		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10344730, 10477554, 10490996, 10519409, 10687134, 10746555, 10752474, 10754339, 11033019, 11221837, 11251973, 11459172, 11536162, 11971032, 12115588, 12135425, 15386406, 15528338, 16247014, 17050255, 24342804, 25837513, 28870403, 8027550, 8621927, 9000554, 9220317, 9278327, 9862730		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18198213		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	22492182, 6236923, 6403455		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	14693734		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	14693734		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	6594042		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASDB_DG	22688191		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28093446		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	10687134, 15695408, 23867552, 9524710		★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	14511464		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	3457897		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	7886716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	BEFREE	7886716		★☆☆☆☆ 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	26335810		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CTD_human_DG	17283154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	LHGDN	18361931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	31289029, 6952946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10746785, 14651518, 14989713, 17584771, 17653284, 17662002, 17911594, 17971048, 18953350, 19482867, 19907433, 20678810, 20736246, 20826009, 21441263, 21776012, 23175382, 2351974, 24430172, 24662416, 25324153, 27797002, 28597127, 29970406, 30653506, 31573825, 3162954, 31844981, 3874450, 6267516, 6597862, 6978384, 7071819, 80838, 9894852		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16459714		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	22190364		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	29343473		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	12907150		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	17922429		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	19278738, 25953150, 27000234, 30595166, 3508039, 3958744, 8469338, 8482958, 85353		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASCAT_DG	26562150		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis, Ocular	Myasthenia Gravis	BEFREE	6334696		★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30655602, 31603289		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	18261837		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11752355, 12393722, 17926184, 20388056, 20497687, 20870028, 21252986		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	23830818		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	12366788, 26518595		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	10839486, 18922348		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12464650, 12516093, 15729690, 17609824, 19664746, 19683024, 19714482, 20072141, 22440091, 22880099, 23209447, 24947555, 25940993, 26307051, 28637989, 6419386, 8922295		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	19664746, 20512145, 23209447		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	GWASCAT_DG	19664746, 20512145, 27436580		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10084692, 10363989, 10371507, 10479062, 10564583, 10687134, 10754339, 11257391, 11536162, 11577000, 11577350, 12480922, 1445813, 14968119, 15015764, 15164233, 15173072, 15269141, 15501971, 15705910, 16101834, 16235173, 16709854, 18288212, 1849792, 18591381, 18698046, 18721270, 19267352, 19610063, 20386466, 20501960, 22405859, 22735807, 2462591, 2473473, 2580935, 26447882, 26506473, 26701267, 27858943, 27895918, 27924074, 28231819, 28334025, 28442504, 28523518, 28771191, 28776578, 29645087, 31091334, 31209257, 31285464, 31408414, 7640226, 8118802, 8464898, 9023415, 9043759, 9225046, 9679974, 9935159, 9973437		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	7838400		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	6236923		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10607714, 17379072, 21607557, 24850840, 27181332, 27548033, 27924074, 28435676, 28860210, 29386195, 30045840, 30430205, 31408937		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21658414		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	6594042, 86041		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	2284101, 6204001, 6436814		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	23209447		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23990522		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15254047, 17602077, 26058806, 9023415		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	31326317		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ 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
Optic Neuritis	Optic Neuritis	BEFREE	15613143		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	8554366		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	26345971		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	26345971		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30767336, 6983158		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	22471616, 3861067, 6580363		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	21811055		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12717278, 21697763, 27783849, 28241889		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	7274603		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24308748		★☆☆☆☆ Found in Text Mining only
Parakeratosis Variegata	Parakeratosis Variegata	CTD_human_DG	16538176		★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	PSYGENET_DG	16786814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoid Schizophrenia	Paranoid Schizophrenia	PSYGENET_DG	16786814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	16786814, 6579723		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parapsoriasis	Parapsoriasis	CTD_human_DG	16538176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parapsoriasis en Plaques	Parapsoriasis En Plaques	CTD_human_DG	16538176		★☆☆☆☆ 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
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	18396213, 23076633		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	77056		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	26161794		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	11841366, 11982641		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	27178774		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	11841366, 12878355, 23330836, 6199866		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	21179106		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	6958086		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	16533342, 21851420		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	6199866		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	30520966		★☆☆☆☆ Found in Text Mining only
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	GWASCAT_DG	30850646		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	17517179		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12395322, 16964594		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	25521205, 7576567		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10657015, 12391194, 12838324, 24149465, 24690990, 27102235		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15314693		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	25666200, 30932338		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12100686, 14527733, 15245541, 18381784, 2222538, 29943154, 31473973, 6932404, 6950538, 91225, 9820604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	18381784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	14527733, 15191522, 15245541, 17101473, 25087609, 29031612		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	22688191		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	3827423		★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	BEFREE	8193402		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15173072, 15705910, 15900605, 16082191, 18698046, 23237922, 27757561, 9679974		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	19112225		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24033735, 9201596		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	2944540		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	7959963		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	3087020, 8504512		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10817772, 11929590, 15593216, 2311344, 2322023, 24656864, 2711369, 2810257, 3151145, 3261054, 3482988, 3489300, 3861001, 3865340, 6941466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis	Rhinitis	LHGDN	18782112		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	749695		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	19440063, 21513758, 3827423, 6636112		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11840504, 12165412, 16960807, 18786593, 23083632, 23395714, 26218850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12165412, 18786593, 23083632, 23395714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	22688191, 28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	17258541, 18385790, 20504258, 21545408, 22912896, 23588310, 24236482, 24268988, 24781922, 25099678, 26448174, 26928377, 27888155, 28438823, 29162886, 29392710, 31089385, 31700100		★☆☆☆☆ Found in Text Mining only
Sclerodactyly	Sclerodactyly	BEFREE	3861001		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	16078323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary Parkinson Disease	Parkinson disease	BEFREE	7175530		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	481843		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	16630549, 18186801, 19490987, 19958537, 20844028		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	24979673		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	21429233		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2580935		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	1675045, 2563195		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	11830423, 21360006, 28013432, 9058656		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17294448, 27895918, 9023415, 9096641		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24413525		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10678555, 15501971, 17631051, 19610063, 28559015		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	23867552		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	11956863, 7466782		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	17258541, 22348435, 22912896, 23635947, 24268988, 24777842, 24781922, 25099678, 28476759, 28570299, 31690398, 31700100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	BEFREE	26490229, 30015149, 31066027		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10735593, 16541432, 16761627, 19883394, 20819431, 24244023, 24398900, 31620857		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	1615764		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	26656886		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	12445740		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16078323, 23415078, 26161794		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	1350869, 6120922, 9951812		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	LHGDN	17428358		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	18721275		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	3885999		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	19278738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	24908204, 3254259		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	3993667		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	6587613		★☆☆☆☆ Found in Text Mining only
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	8306482		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	17258541, 18385790, 21545408, 22348435, 22912896, 24236482, 24268988, 24777842, 24781922, 25099678, 26448174, 27400826, 28438823, 28570299, 29162886, 29392710, 31690398, 31700100		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	3928541		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28919988		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	7834897, 8082315		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25595911, 3456944		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	27998971		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	9505825		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	20868569, 21179106, 21429233, 23831258, 6602798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis, Posterior	Uveitis	BEFREE	22106906, 23831258		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	10682969, 2234843		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	GWASCAT_DG	30566020		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	31844981		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	20410501, 27723757		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20410501, 21326295, 22561518		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	21833019, 26787886, 30219821, 31505868, 9743539		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	21833019, 26787886, 30219821, 31505868, 9743539		★☆☆☆☆ Found in Text Mining only
Vitritis	Vitritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	26662388		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	6574616		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HLA-B 9 shared diseasesAortic arch syndrome, Skin neoplasms, Birdshot chorioretinopathy, Ischemic stroke, Dermatitis, Genetic predisposition to disease, Uveitis, Skin cancer, Stevens-johnson syndrome 24 shared pathwaysEndocytosis, Phagosome, Cellular senescence, Cell adhesion molecules, Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection +12 more 10 shared evidence sourcesDisgenet (Aortic arch syndrome), GWAS catalog (Skin neoplasms), Disgenet (Birdshot chorioretinopathy), Disgenet (Ischemic stroke), CTD (Genetic predisposition to disease), CTD (Glioma), GWAS catalog (Skin cancer), CTD (Stevens-johnson syndrome), Disgenet (Stevens-johnson syndrome), Disgenet (Uveitis) Related via 24 shared pathways including Endocytosis, Phagosome — evidence mostly Disgenet. HLA-E 1 shared diseaseParapsoriasis 24 shared pathwaysEndocytosis, Phagosome, Cellular senescence, Cell adhesion molecules, Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection +12 more 2 shared evidence sourcesCTD (Parapsoriasis), Disgenet (Parapsoriasis) Related via 24 shared pathways including Endocytosis, Phagosome — evidence mostly CTD. HLA-C 1 shared diseaseStevens-johnson syndrome 24 shared pathwaysEndocytosis, Phagosome, Cellular senescence, Cell adhesion molecules, Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection +12 more 2 shared evidence sourcesCTD (Glioma), CTD (Stevens-johnson syndrome) Related via 24 shared pathways including Endocytosis, Phagosome — evidence mostly CTD. HLA-G 24 shared pathwaysEndocytosis, Phagosome, Cellular senescence, Cell adhesion molecules, Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection +12 more Related via 24 shared pathways including Endocytosis, Phagosome. HLA-F 1 shared diseaseStevens-johnson syndrome 23 shared pathwaysEndocytosis, Phagosome, Cellular senescence, Cell adhesion molecules, Antigen processing and presentation, Type I diabetes mellitus, Human cytomegalovirus 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 +11 more Related via 23 shared pathways including Endocytosis, Phagosome.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HLA-B	9	["Aortic arch syndrome","Skin neoplasms","Birdshot chorioretinopathy","Ischemic stroke","Dermatitis","Genetic predisposition to disease","Uveitis","Skin cancer","Stevens-johnson syndrome"]	24	["Endocytosis","Phagosome","Cellular senescence","Cell adhesion molecules","Antigen processing and presentation","Natural killer cell mediated cytotoxicity","Type I diabetes mellitus","Human cytomegalovirus infection","Human T-cell leukemia virus 1 infection","Kaposi sarcoma-associated herpesvirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection"]	10	["Disgenet (Aortic arch syndrome)","GWAS catalog (Skin neoplasms)","Disgenet (Birdshot chorioretinopathy)","Disgenet (Ischemic stroke)","CTD (Genetic predisposition to disease)","CTD (Glioma)","GWAS catalog (Skin cancer)","CTD (Stevens-johnson syndrome)","Disgenet (Stevens-johnson syndrome)","Disgenet (Uveitis)"]
HLA-E	1	["Parapsoriasis"]	24	["Endocytosis","Phagosome","Cellular senescence","Cell adhesion molecules","Antigen processing and presentation","Natural killer cell mediated cytotoxicity","Type I diabetes mellitus","Human cytomegalovirus infection","Human T-cell leukemia virus 1 infection","Kaposi sarcoma-associated herpesvirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection"]	2	["CTD (Parapsoriasis)","Disgenet (Parapsoriasis)"]
HLA-C	1	["Stevens-johnson syndrome"]	24	["Endocytosis","Phagosome","Cellular senescence","Cell adhesion molecules","Antigen processing and presentation","Natural killer cell mediated cytotoxicity","Type I diabetes mellitus","Human cytomegalovirus infection","Human T-cell leukemia virus 1 infection","Kaposi sarcoma-associated herpesvirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection"]	2	["CTD (Glioma)","CTD (Stevens-johnson syndrome)"]
HLA-G	0	[]	24	["Endocytosis","Phagosome","Cellular senescence","Cell adhesion molecules","Antigen processing and presentation","Natural killer cell mediated cytotoxicity","Type I diabetes mellitus","Human cytomegalovirus infection","Human T-cell leukemia virus 1 infection","Kaposi sarcoma-associated herpesvirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection"]	0	[]
HLA-F	1	["Stevens-johnson syndrome"]	23	["Endocytosis","Phagosome","Cellular senescence","Cell adhesion molecules","Antigen processing and presentation","Type I diabetes mellitus","Human cytomegalovirus 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"]	0	[]

Diseases Linked via Similar Genes

Cervical cancer Linked via 4 of 5 related genesHLA-B, HLA-E, HLA-C, HLA-G Colorectal cancer Linked via 4 of 5 related genesHLA-B, HLA-C, HLA-G, HLA-F Psoriatic arthritis Linked via 4 of 5 related genesHLA-B, HLA-C, HLA-G, HLA-F Asthma Linked via 3 of 5 related genesHLA-B, HLA-E, HLA-G Bipolar disorder Linked via 3 of 5 related genesHLA-B, HLA-E, HLA-G

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cervical cancer	4	["HLA-B","HLA-E","HLA-C","HLA-G"]
Colorectal cancer	4	["HLA-B","HLA-C","HLA-G","HLA-F"]
Psoriatic arthritis	4	["HLA-B","HLA-C","HLA-G","HLA-F"]
Asthma	3	["HLA-B","HLA-E","HLA-G"]
Bipolar disorder	3	["HLA-B","HLA-E","HLA-G"]