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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1235
Gene name	C-C motif chemokine receptor 6
Gene symbol	CCR6
Synonyms (NCBI Gene)	BN-1C-C CKR-6CC-CKR-6CCR-6CD196CKR-L3CKRL3CMKBR6DCR2DRY6GPR29GPRCY4STRL22
Chromosome	6
Chromosome location	6q27
Summary	This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligan

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Show/Hide all (233)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029835	hsa-miR-26b-5p	Microarray	19088304
MIRT054540	hsa-miR-518a-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCR	24559209
MIRT054540	hsa-miR-518a-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCR	24559209
MIRT054540	hsa-miR-518a-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCR	24559209
MIRT054540	hsa-miR-518a-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCR	24559209
MIRT438120	hsa-miR-150-5p	ELISAImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot	24385540
MIRT438120	hsa-miR-150-5p	ELISAImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot	24385540
MIRT438120	hsa-miR-150-5p	ELISAImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot	24385540
MIRT438120	hsa-miR-150-5p	ELISAImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot	24385540
MIRT675085	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT675084	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT675083	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT675082	hsa-miR-4770	HITS-CLIP	23824327
MIRT675081	hsa-miR-6088	HITS-CLIP	23824327
MIRT675080	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT675079	hsa-miR-1273f	HITS-CLIP	23824327
MIRT675078	hsa-miR-4534	HITS-CLIP	23824327
MIRT675077	hsa-miR-8082	HITS-CLIP	23824327
MIRT675076	hsa-miR-1289	HITS-CLIP	23824327
MIRT675075	hsa-miR-4294	HITS-CLIP	23824327
MIRT675074	hsa-miR-3198	HITS-CLIP	23824327
MIRT675073	hsa-miR-4309	HITS-CLIP	23824327
MIRT675072	hsa-miR-8055	HITS-CLIP	23824327
MIRT675071	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT663559	hsa-miR-1245a	HITS-CLIP	23824327
MIRT663560	hsa-miR-8079	HITS-CLIP	23824327
MIRT663558	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT663557	hsa-miR-640	HITS-CLIP	23824327
MIRT663556	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT663555	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT663554	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT663552	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT663553	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT663551	hsa-miR-3666	HITS-CLIP	23824327
MIRT663550	hsa-miR-4295	HITS-CLIP	23824327
MIRT663549	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT663548	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT663547	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT663546	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT663545	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT663544	hsa-miR-3135b	HITS-CLIP	23824327
MIRT663543	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT663542	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT663541	hsa-miR-564	HITS-CLIP	23824327
MIRT663540	hsa-miR-3652	HITS-CLIP	23824327
MIRT663539	hsa-miR-4430	HITS-CLIP	23824327
MIRT663538	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT663537	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT497572	hsa-miR-4539	PAR-CLIP	22291592
MIRT497571	hsa-miR-4635	PAR-CLIP	22291592
MIRT497570	hsa-miR-3928-5p	PAR-CLIP	22291592
MIRT497569	hsa-miR-6806-3p	PAR-CLIP	22291592
MIRT497568	hsa-miR-4749-3p	PAR-CLIP	22291592
MIRT497567	hsa-miR-7843-3p	PAR-CLIP	22291592
MIRT497566	hsa-miR-127-5p	PAR-CLIP	22291592
MIRT731937	hsa-miR-150-3p	Western blot	27935859
MIRT731937	hsa-miR-150-3p	Western blot	27935859
MIRT675079	hsa-miR-1273f	HITS-CLIP	27418678
MIRT675079	hsa-miR-1273f	HITS-CLIP	27418678
MIRT675076	hsa-miR-1289	HITS-CLIP	27418678
MIRT675076	hsa-miR-1289	HITS-CLIP	27418678
MIRT675071	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT675071	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT675083	hsa-miR-143-3p	HITS-CLIP	27418678
MIRT675083	hsa-miR-143-3p	HITS-CLIP	27418678
MIRT675074	hsa-miR-3198	HITS-CLIP	27418678
MIRT675074	hsa-miR-3198	HITS-CLIP	27418678
MIRT675075	hsa-miR-4294	HITS-CLIP	27418678
MIRT675075	hsa-miR-4294	HITS-CLIP	27418678
MIRT675073	hsa-miR-4309	HITS-CLIP	27418678
MIRT675073	hsa-miR-4309	HITS-CLIP	27418678
MIRT675078	hsa-miR-4534	HITS-CLIP	27418678
MIRT675078	hsa-miR-4534	HITS-CLIP	27418678
MIRT675080	hsa-miR-4708-5p	HITS-CLIP	27418678
MIRT675080	hsa-miR-4708-5p	HITS-CLIP	27418678
MIRT675082	hsa-miR-4770	HITS-CLIP	27418678
MIRT675082	hsa-miR-4770	HITS-CLIP	27418678
MIRT675081	hsa-miR-6088	HITS-CLIP	27418678
MIRT675081	hsa-miR-6088	HITS-CLIP	27418678
MIRT675085	hsa-miR-6514-5p	HITS-CLIP	27418678
MIRT675085	hsa-miR-6514-5p	HITS-CLIP	27418678
MIRT663538	hsa-miR-6879-3p	HITS-CLIP	27418678
MIRT675072	hsa-miR-8055	HITS-CLIP	27418678
MIRT675072	hsa-miR-8055	HITS-CLIP	27418678
MIRT675077	hsa-miR-8082	HITS-CLIP	27418678
MIRT675077	hsa-miR-8082	HITS-CLIP	27418678
MIRT735791	hsa-miR-518a-5p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCRFlow cytometry	32600091
MIRT675085	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT675084	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT675083	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT675082	hsa-miR-4770	HITS-CLIP	23824327
MIRT675081	hsa-miR-6088	HITS-CLIP	23824327
MIRT675080	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT675079	hsa-miR-1273f	HITS-CLIP	23824327
MIRT675078	hsa-miR-4534	HITS-CLIP	23824327
MIRT675077	hsa-miR-8082	HITS-CLIP	23824327
MIRT675076	hsa-miR-1289	HITS-CLIP	23824327
MIRT675075	hsa-miR-4294	HITS-CLIP	23824327
MIRT675074	hsa-miR-3198	HITS-CLIP	23824327
MIRT675073	hsa-miR-4309	HITS-CLIP	23824327
MIRT675072	hsa-miR-8055	HITS-CLIP	23824327
MIRT675071	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT663559	hsa-miR-1245a	HITS-CLIP	23824327
MIRT663560	hsa-miR-8079	HITS-CLIP	23824327
MIRT663558	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT663557	hsa-miR-640	HITS-CLIP	23824327
MIRT663556	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT663555	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT663554	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT663552	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT663553	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT663551	hsa-miR-3666	HITS-CLIP	23824327
MIRT663550	hsa-miR-4295	HITS-CLIP	23824327
MIRT663549	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT663548	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT663547	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT663546	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT663545	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT663544	hsa-miR-3135b	HITS-CLIP	23824327
MIRT663543	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT663542	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT663541	hsa-miR-564	HITS-CLIP	23824327
MIRT663540	hsa-miR-3652	HITS-CLIP	23824327
MIRT663539	hsa-miR-4430	HITS-CLIP	23824327
MIRT663538	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT663537	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT497572	hsa-miR-4539	PAR-CLIP	22291592
MIRT497571	hsa-miR-4635	PAR-CLIP	22291592
MIRT497570	hsa-miR-3928-5p	PAR-CLIP	22291592
MIRT497569	hsa-miR-6806-3p	PAR-CLIP	22291592
MIRT497568	hsa-miR-4749-3p	PAR-CLIP	22291592
MIRT497567	hsa-miR-7843-3p	PAR-CLIP	22291592
MIRT497566	hsa-miR-127-5p	PAR-CLIP	22291592
MIRT873250	hsa-miR-122	CLIP-seq
MIRT873251	hsa-miR-1245	CLIP-seq
MIRT873252	hsa-miR-1307	CLIP-seq
MIRT873253	hsa-miR-130a	CLIP-seq
MIRT873254	hsa-miR-130b	CLIP-seq
MIRT873255	hsa-miR-183	CLIP-seq
MIRT873256	hsa-miR-301a	CLIP-seq
MIRT873257	hsa-miR-301b	CLIP-seq
MIRT873258	hsa-miR-3149	CLIP-seq
MIRT873259	hsa-miR-371-5p	CLIP-seq
MIRT873260	hsa-miR-371b-5p	CLIP-seq
MIRT873261	hsa-miR-411	CLIP-seq
MIRT873262	hsa-miR-454	CLIP-seq
MIRT873263	hsa-miR-4729	CLIP-seq
MIRT873264	hsa-miR-548l	CLIP-seq
MIRT873265	hsa-miR-548n	CLIP-seq
MIRT873266	hsa-miR-720	CLIP-seq
MIRT873250	hsa-miR-122	CLIP-seq
MIRT873253	hsa-miR-130a	CLIP-seq
MIRT873254	hsa-miR-130b	CLIP-seq
MIRT873267	hsa-miR-150	CLIP-seq
MIRT873255	hsa-miR-183	CLIP-seq
MIRT873256	hsa-miR-301a	CLIP-seq
MIRT873257	hsa-miR-301b	CLIP-seq
MIRT873268	hsa-miR-3128	CLIP-seq
MIRT873269	hsa-miR-4258	CLIP-seq
MIRT873270	hsa-miR-4269	CLIP-seq
MIRT873271	hsa-miR-4438	CLIP-seq
MIRT873262	hsa-miR-454	CLIP-seq
MIRT873272	hsa-miR-5095	CLIP-seq
MIRT873273	hsa-miR-562	CLIP-seq
MIRT1959103	hsa-miR-3187-3p	CLIP-seq
MIRT1959104	hsa-miR-4435	CLIP-seq
MIRT1959105	hsa-miR-4701-5p	CLIP-seq
MIRT1959106	hsa-miR-4755-3p	CLIP-seq
MIRT1959107	hsa-miR-548s	CLIP-seq
MIRT1959108	hsa-miR-588	CLIP-seq
MIRT873250	hsa-miR-122	CLIP-seq
MIRT873252	hsa-miR-1307	CLIP-seq
MIRT873253	hsa-miR-130a	CLIP-seq
MIRT873254	hsa-miR-130b	CLIP-seq
MIRT1959109	hsa-miR-1343	CLIP-seq
MIRT873255	hsa-miR-183	CLIP-seq
MIRT873256	hsa-miR-301a	CLIP-seq
MIRT873257	hsa-miR-301b	CLIP-seq
MIRT1959110	hsa-miR-4284	CLIP-seq
MIRT873262	hsa-miR-454	CLIP-seq
MIRT1959111	hsa-miR-498	CLIP-seq
MIRT873250	hsa-miR-122	CLIP-seq
MIRT873252	hsa-miR-1307	CLIP-seq
MIRT873253	hsa-miR-130a	CLIP-seq
MIRT873254	hsa-miR-130b	CLIP-seq
MIRT1959109	hsa-miR-1343	CLIP-seq
MIRT873267	hsa-miR-150	CLIP-seq
MIRT873255	hsa-miR-183	CLIP-seq
MIRT873256	hsa-miR-301a	CLIP-seq
MIRT873257	hsa-miR-301b	CLIP-seq
MIRT2196035	hsa-miR-3152-5p	CLIP-seq
MIRT2196036	hsa-miR-377	CLIP-seq
MIRT1959110	hsa-miR-4284	CLIP-seq
MIRT873262	hsa-miR-454	CLIP-seq
MIRT2196037	hsa-miR-4641	CLIP-seq
MIRT2196038	hsa-miR-4690-3p	CLIP-seq
MIRT2196039	hsa-miR-4709-3p	CLIP-seq
MIRT2196040	hsa-miR-4731-5p	CLIP-seq
MIRT2196041	hsa-miR-4753-3p	CLIP-seq
MIRT2196042	hsa-miR-4772-3p	CLIP-seq
MIRT1959111	hsa-miR-498	CLIP-seq
MIRT873250	hsa-miR-122	CLIP-seq
MIRT873253	hsa-miR-130a	CLIP-seq
MIRT873254	hsa-miR-130b	CLIP-seq
MIRT2446537	hsa-miR-143	CLIP-seq
MIRT873256	hsa-miR-301a	CLIP-seq
MIRT873257	hsa-miR-301b	CLIP-seq
MIRT873262	hsa-miR-454	CLIP-seq
MIRT873266	hsa-miR-720	CLIP-seq
MIRT873250	hsa-miR-122	CLIP-seq
MIRT873252	hsa-miR-1307	CLIP-seq
MIRT873253	hsa-miR-130a	CLIP-seq
MIRT873254	hsa-miR-130b	CLIP-seq
MIRT1959109	hsa-miR-1343	CLIP-seq
MIRT873255	hsa-miR-183	CLIP-seq
MIRT873256	hsa-miR-301a	CLIP-seq
MIRT873257	hsa-miR-301b	CLIP-seq
MIRT2196035	hsa-miR-3152-5p	CLIP-seq
MIRT1959110	hsa-miR-4284	CLIP-seq
MIRT873262	hsa-miR-454	CLIP-seq
MIRT2196041	hsa-miR-4753-3p	CLIP-seq
MIRT2196042	hsa-miR-4772-3p	CLIP-seq
MIRT1959111	hsa-miR-498	CLIP-seq
MIRT873252	hsa-miR-1307	CLIP-seq
MIRT1959109	hsa-miR-1343	CLIP-seq
MIRT873267	hsa-miR-150	CLIP-seq
MIRT2196035	hsa-miR-3152-5p	CLIP-seq
MIRT1959110	hsa-miR-4284	CLIP-seq
MIRT873271	hsa-miR-4438	CLIP-seq
MIRT2196041	hsa-miR-4753-3p	CLIP-seq
MIRT1959111	hsa-miR-498	CLIP-seq
MIRT873272	hsa-miR-5095	CLIP-seq
MIRT873273	hsa-miR-562	CLIP-seq

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Transcription factor	Regulation	Reference
NR3C2	Activation	11751947

Show/Hide all (67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002407	Process	Dendritic cell chemotaxis	TAS	16621978
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0002523	Process	Leukocyte migration involved in inflammatory response	ISS
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004950	Function	Chemokine receptor activity	IEA
GO:0004950	Function	Chemokine receptor activity	TAS	11001880
GO:0005515	Function	Protein binding	IPI	20068036, 25122636
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9186513
GO:0006935	Process	Chemotaxis	IDA	20068036
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	IMP	12081481
GO:0006935	Process	Chemotaxis	TAS	11001880
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9223454
GO:0006959	Process	Humoral immune response	TAS	11001880
GO:0006968	Process	Cellular defense response	TAS	10521347
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9186513
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	TAS	9223454
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	12081481
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016493	Function	C-C chemokine receptor activity	IBA
GO:0016493	Function	C-C chemokine receptor activity	IDA	20068036
GO:0016493	Function	C-C chemokine receptor activity	IEA
GO:0016493	Function	C-C chemokine receptor activity	IMP	12081481
GO:0019722	Process	Calcium-mediated signaling	IBA
GO:0019722	Process	Calcium-mediated signaling	IMP	12081481
GO:0019957	Function	C-C chemokine binding	IBA
GO:0019957	Function	C-C chemokine binding	IDA	20068036
GO:0019957	Function	C-C chemokine binding	IEA
GO:0019957	Function	C-C chemokine binding	IMP	12081481
GO:0036126	Component	Sperm flagellum	IDA	23765988
GO:0036126	Component	Sperm flagellum	IEA
GO:0038023	Function	Signaling receptor activity	TAS	9186513
GO:0048290	Process	Isotype switching to IgA isotypes	IEA
GO:0048290	Process	Isotype switching to IgA isotypes	ISS
GO:0060326	Process	Cell chemotaxis	IBA
GO:0060326	Process	Cell chemotaxis	IDA	23765988
GO:0060474	Process	Positive regulation of flagellated sperm motility involved in capacitation	IDA	23765988
GO:0060474	Process	Positive regulation of flagellated sperm motility involved in capacitation	IEA
GO:0070098	Process	Chemokine-mediated signaling pathway	IEA
GO:0072676	Process	Lymphocyte migration	IEA
GO:0072676	Process	Lymphocyte migration	ISS
GO:0072678	Process	T cell migration	IEA
GO:0072678	Process	T cell migration	ISS
GO:0072679	Process	Thymocyte migration	IBA
GO:0072679	Process	Thymocyte migration	IEA
GO:0072679	Process	Thymocyte migration	ISS
GO:0097225	Component	Sperm midpiece	IDA	23765988
GO:0097228	Component	Sperm principal piece	IDA	23765988
GO:0097228	Component	Sperm principal piece	IEA
GO:0097524	Component	Sperm plasma membrane	IDA	23765988
GO:0097524	Component	Sperm plasma membrane	IEA
GO:1904155	Process	DN2 thymocyte differentiation	IEA
GO:1904155	Process	DN2 thymocyte differentiation	ISS
GO:1904156	Process	DN3 thymocyte differentiation	IEA
GO:1904156	Process	DN3 thymocyte differentiation	ISS
GO:2000404	Process	Regulation of T cell migration	IEA
GO:2000404	Process	Regulation of T cell migration	ISS
GO:2000510	Process	Positive regulation of dendritic cell chemotaxis	IBA

MIM	HGNC	e!Ensembl
601835	1607	ENSG00000112486

P51684

Protein name

C-C chemokine receptor type 6 (C-C CKR-6) (CC-CKR-6) (CCR-6) (Chemokine receptor-like 3) (CKR-L3) (DRY6) (G-protein coupled receptor 29) (GPR-CY4) (GPRCY4) (LARC receptor) (CD antigen CD196)

Protein function

Receptor for the C-C type chemokine CCL20 (PubMed:9169459). Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels (PubMed:20068036). Although CCL20 is its major ligand it can also act as a recepto

PDB

6WWZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	63 → 316	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Sperm. Mainly localized in the tail and in the postacrosomal region but is also found in the midpiece and basal region in a small percentage of sperm cells. Reduced levels found in the sperms of asthenozoospermia and leukocytospermia p

Sequence

MSGESMNFSDVFDSSEDYFVSVNTSYYSVDSEMLLCSLQEVRQFSRLFVPIAYSLICVFG
LLGNILVVITFAFYKKARSMTDVYLLNMAIADILFVLTLPFWAVSHATGAWVFSNATCKL
LKGIYAINFNCGMLLLTCISMDRYIAIVQATKSFRLRSRTLPRSKIICLVVWGLSVIISS
STFVFNQKYNTQGSDVCEPKYQTVSEPIRWKLLMLGLELLFGFFIPLMFMIFCYTFIVKT
LVQAQNSKRHKAIRVIIAVVLVFLACQIPHNMVLLVTAANLGKMNRSCQSEKLIGYTKTV
TEVLAFLHCCLNPVLYAFIGQKFRNYFLKILKDLWCVRRKYKSSGFSCAGRYSENISRQT
SETADNDNASSFTM

Sequence length

374

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway		Beta defensins Chemokine receptors bind chemokines G alpha (i) signalling events

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

Show/Hide Unknown Diseases (32)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANHEDONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★★★★ ★★☆☆☆ 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
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS	—	Orphanet	★★★★★ ★★☆☆☆ 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
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLEROSIS WITH LIMITED CUTANEOUS INVOLVEMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (241)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20872189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	31556151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23824053	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	16413387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	PSYGENET_DG	24333375		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28188806, 31432181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29229985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29229985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	23200757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22732549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	37280058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	18025126, 30133119, 31470891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	37280058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	24286492, 31677365, 34681660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	31350460	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11472439, 12695561, 16207316, 19804625, 21204897, 22092173, 22127930, 22355377, 23577190, 23983073, 25430993, 26617177, 27595364, 27626929, 27822475 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33362761, 35095831, 38156398	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	18422729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	26031901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22732549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33717080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18025126, 20453841, 21825017, 23306142, 25828206, 28710773, 28873441, 30098865, 30399422, 31364806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24890729, 25972006, 28336414, 28710773, 33547171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	18422729, 25972006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	21873313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	16413387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	23200757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	27822475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15916713, 17522430, 25735723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21624121, 26942414, 35754051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	26621323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17075975, 24602001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15180734	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16764701, 17075975, 21935436, 22615204, 24743888, 26331965, 30633620, 31322256, 36938723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27916417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11956107, 20439195, 20872189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20976171	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31432181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23578198, 32775427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	26859134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28611085		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26156805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26156805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33045415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28383652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	20844183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22004873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29879421, 30303980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20839337, 27302925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17332482, 21791252, 30372815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	22699780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20720211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26536229, 30347808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31191543, 31660620	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20018172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23790181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16641550, 21912453, 24559209, 24979261, 25201147, 25661365, 29097259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16641550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16641550, 23790181, 24559209, 27149649, 29268566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	7999986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	ORPHANET_DG	23983073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19592695, 20453841, 21144017, 21600899, 22269120, 26536229, 27789680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26536229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31191543	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12695561, 29251019, 30619268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	24618828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28115058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	11133838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30718298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	14730617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30723474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28119693, 30723474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28356293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse cutaneous systemic sclerosis	Diffuse Cutaneous Systemic Sclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Scleroderma	Scleroderma	ORPHANET_DG	23983073		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	BEFREE	11133838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	32109548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	20816914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38016720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	38016720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	18465142, 20459729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	17562763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	19006683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	20459729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	30718298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	23306142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	18588867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29535421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29535421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11221847, 9613612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	23192593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33462083, 33717080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34289887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	23226545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	22490506	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	28615072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	25928629, 30474404		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	25928629, 30956992	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C	Hepatitis c	Pubtator	28387899, 31652598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30206415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	LHGDN	12642342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	22037258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20844183, 31487717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	23935994, 25928629, 33717080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27789680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	30403287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30354937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18422729, 26536229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20720211, 22269120, 24662057, 26536229, 31582819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28115058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	34191345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	23823618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal perforation	Pubtator	36825028	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19324905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29984403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	29868028	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22004873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23835793		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14999791, 26931577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	29699990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limited cutaneous systemic sclerosis	Limited Systemic Sclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	16706828, 16764701, 17075975, 21935436, 24743888, 25698534, 28560063, 30287142, 30633620, 31322256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17075975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19309748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20334681, 24598455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34940981	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	14596426, 28444576, 31180450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	12642342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12514792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29293620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	29293620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	24602001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	22048239, 24385540, 26789110, 27935859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	14999791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14999791, 15916713, 17522430, 25735723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27916417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11956107, 20439195, 20872189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10225458, 15701269, 15781649, 20459729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17853923, 18465142, 28903065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22029675, 26044596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24984269, 26577851, 31146261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12948524, 15701269, 16641550, 17075975, 20459729, 24984269, 25130722, 28188806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26156805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20018172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20220766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24211571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	31983065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	20844183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20406964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20406964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26345847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	20839337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35142152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	38044583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	25248880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14999791, 15308561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25972006, 28336414, 30698680, 33037101, 33158438, 34006899, 36250467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28336414, 28939272, 30698680, 31812897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	26826242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23200757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10225458, 11862476, 11929838, 12791091, 14999791, 16044164, 16706828, 16764701, 17569106, 18465142, 18980997, 19324905, 20872189, 21935436, 22457227 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11929838, 17545522, 17570703, 18980997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17187448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28903065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28903065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26866940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33362761	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	26189947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27822475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31866467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10225458, 15701269, 15781649, 20459729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15701269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20459729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	34702715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	20459729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	33331471, 34795977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	12067311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	18588867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	30944162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	14730617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	11001880, 27018255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26931577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17853923, 18465142, 28903065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18465142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28903065, 36045408, 36479732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	BEFREE	29109267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19295614, 26505361, 27068801, 28972090, 29109267, 30268387, 31005389, 31692008		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	20943046, 25202827	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	24286492	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	26505361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	12695561, 31512538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11472439, 12695561, 12948524, 18025126, 20453841, 21724701, 22127930, 23983073, 24394994, 25828206, 26939566, 27587881, 29251019, 29254845, 30133119 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17133360		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	20453841, 20453842, 22446963, 23143596, 24390342, 24782177		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20453841, 20453842, 23143596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	20453841, 20453842, 23143596, 24390342, 24532676, 24782177, 30423114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	27230441, 35075176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	19324905	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32109548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	21996293, 23983073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma, Limited	Scleroderma	ORPHANET_DG	23983073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29453859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28115058, 31556151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	21937703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36326893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31399243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22029675, 26044596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	17562763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39781526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	21724701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23983073, 26314374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	29847667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24984269, 26577851, 31146261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	25928629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24984269, 26577851, 31146261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26577851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	25928629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	34067581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	16306769		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	19592695, 21144017, 22269120, 26536229, 31660620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25768730, 26156805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33888832	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24211571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	23935994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	35572511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	CTD_human_DG	20526340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	20526340	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	BEFREE	30655106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	30655106		★★★★★ ★☆☆☆☆ Found in Text Mining only

CCR6 (C-C motif chemokine receptor 6)