BTN3A1 (butyrophilin subfamily 3 member A1)

Gene

• Entrez ID: 11119
• Gene name: Butyrophilin subfamily 3 member A1
• Gene symbol: BTN3A1
• Synonyms (NCBI Gene): BT3.1, BTF5, BTN3.1, CD277
• Chromosome: 6
• Chromosome location: 6p22.2
• Summary: The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of hum

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019201	hsa-miR-335-5p	Microarray	18185580
MIRT051029	hsa-miR-17-5p	CLASH	23622248
MIRT050606	hsa-miR-20a-5p	CLASH	23622248
MIRT043159	hsa-miR-324-5p	CLASH	23622248
MIRT168281	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT050606	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT168281	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT051029	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT168289	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT168279	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT168299	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT050606	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT827351	hsa-miR-1909	CLIP-seq
MIRT827352	hsa-miR-3124-3p	CLIP-seq
MIRT827353	hsa-miR-3160-3p	CLIP-seq
MIRT827354	hsa-miR-3689d	CLIP-seq
MIRT827355	hsa-miR-4270	CLIP-seq
MIRT827356	hsa-miR-4300	CLIP-seq
MIRT827357	hsa-miR-4441	CLIP-seq
MIRT827358	hsa-miR-4459	CLIP-seq
MIRT827359	hsa-miR-4474-5p	CLIP-seq
MIRT827360	hsa-miR-4514	CLIP-seq
MIRT827361	hsa-miR-4690-5p	CLIP-seq
MIRT827362	hsa-miR-4692	CLIP-seq
MIRT827363	hsa-miR-4753-3p	CLIP-seq
MIRT827364	hsa-miR-4757-5p	CLIP-seq
MIRT827365	hsa-miR-488	CLIP-seq
MIRT827366	hsa-miR-554	CLIP-seq
MIRT827367	hsa-miR-665	CLIP-seq
MIRT827368	hsa-miR-920	CLIP-seq
MIRT827369	hsa-miR-1827	CLIP-seq
MIRT827370	hsa-miR-1976	CLIP-seq
MIRT827371	hsa-miR-219-2-3p	CLIP-seq
MIRT827372	hsa-miR-2355-5p	CLIP-seq
MIRT827373	hsa-miR-3690	CLIP-seq
MIRT827374	hsa-miR-4254	CLIP-seq
MIRT827375	hsa-miR-4722-5p	CLIP-seq
MIRT827376	hsa-miR-4768-3p	CLIP-seq
MIRT827377	hsa-miR-4797-5p	CLIP-seq
MIRT827378	hsa-miR-595	CLIP-seq
MIRT827379	hsa-miR-644	CLIP-seq
MIRT827380	hsa-miR-663b	CLIP-seq
MIRT827367	hsa-miR-665	CLIP-seq
MIRT827381	hsa-miR-940	CLIP-seq
MIRT827382	hsa-miR-1251	CLIP-seq
MIRT827383	hsa-miR-1470	CLIP-seq
MIRT827384	hsa-miR-198	CLIP-seq
MIRT827385	hsa-miR-203	CLIP-seq
MIRT827386	hsa-miR-216b	CLIP-seq
MIRT827387	hsa-miR-296-3p	CLIP-seq
MIRT827388	hsa-miR-3074-3p	CLIP-seq
MIRT827389	hsa-miR-3123	CLIP-seq
MIRT827390	hsa-miR-337-3p	CLIP-seq
MIRT827391	hsa-miR-3606	CLIP-seq
MIRT827392	hsa-miR-3657	CLIP-seq
MIRT827393	hsa-miR-3675-3p	CLIP-seq
MIRT827394	hsa-miR-3919	CLIP-seq
MIRT827395	hsa-miR-3926	CLIP-seq
MIRT827396	hsa-miR-4271	CLIP-seq
MIRT827397	hsa-miR-4446-5p	CLIP-seq
MIRT827398	hsa-miR-4639-3p	CLIP-seq
MIRT827399	hsa-miR-4667-3p	CLIP-seq
MIRT827400	hsa-miR-4669	CLIP-seq
MIRT827401	hsa-miR-4725-3p	CLIP-seq
MIRT827402	hsa-miR-4755-5p	CLIP-seq
MIRT827403	hsa-miR-4779	CLIP-seq
MIRT827404	hsa-miR-4786-5p	CLIP-seq
MIRT827405	hsa-miR-4793-5p	CLIP-seq
MIRT827406	hsa-miR-520a-5p	CLIP-seq
MIRT827407	hsa-miR-525-5p	CLIP-seq
MIRT827408	hsa-miR-548s	CLIP-seq
MIRT827409	hsa-miR-578	CLIP-seq
MIRT827410	hsa-miR-581	CLIP-seq
MIRT827411	hsa-miR-592	CLIP-seq
MIRT827412	hsa-miR-599	CLIP-seq
MIRT827413	hsa-miR-642a	CLIP-seq
MIRT827369	hsa-miR-1827	CLIP-seq
MIRT827351	hsa-miR-1909	CLIP-seq
MIRT827371	hsa-miR-219-2-3p	CLIP-seq
MIRT827353	hsa-miR-3160-3p	CLIP-seq
MIRT827354	hsa-miR-3689d	CLIP-seq
MIRT2183275	hsa-miR-3929	CLIP-seq
MIRT827355	hsa-miR-4270	CLIP-seq
MIRT827356	hsa-miR-4300	CLIP-seq
MIRT2183276	hsa-miR-4419b	CLIP-seq
MIRT827357	hsa-miR-4441	CLIP-seq
MIRT827358	hsa-miR-4459	CLIP-seq
MIRT2183277	hsa-miR-4478	CLIP-seq
MIRT2183278	hsa-miR-4649-3p	CLIP-seq
MIRT2183279	hsa-miR-4659a-3p	CLIP-seq
MIRT2183280	hsa-miR-4659b-3p	CLIP-seq
MIRT2183281	hsa-miR-4712-5p	CLIP-seq
MIRT827375	hsa-miR-4722-5p	CLIP-seq
MIRT827376	hsa-miR-4768-3p	CLIP-seq
MIRT2183282	hsa-miR-485-5p	CLIP-seq
MIRT827367	hsa-miR-665	CLIP-seq
MIRT2183283	hsa-miR-770-5p	CLIP-seq
MIRT827368	hsa-miR-920	CLIP-seq
MIRT827381	hsa-miR-940	CLIP-seq
MIRT2384905	hsa-miR-323b-5p	CLIP-seq
MIRT2384906	hsa-miR-335	CLIP-seq
MIRT827395	hsa-miR-3926	CLIP-seq
MIRT827404	hsa-miR-4786-5p	CLIP-seq
MIRT827405	hsa-miR-4793-5p	CLIP-seq
MIRT2384907	hsa-miR-509-3p	CLIP-seq
MIRT827408	hsa-miR-548s	CLIP-seq
MIRT2384908	hsa-miR-584	CLIP-seq
MIRT2444923	hsa-miR-3122	CLIP-seq
MIRT2444924	hsa-miR-3689a-3p	CLIP-seq
MIRT2444925	hsa-miR-3689c	CLIP-seq
MIRT2444926	hsa-miR-3913-5p	CLIP-seq
MIRT2444923	hsa-miR-3122	CLIP-seq
MIRT2444924	hsa-miR-3689a-3p	CLIP-seq
MIRT2444925	hsa-miR-3689c	CLIP-seq
MIRT2444926	hsa-miR-3913-5p	CLIP-seq
MIRT2486829	hsa-miR-106a	CLIP-seq
MIRT2486830	hsa-miR-106b	CLIP-seq
MIRT2486831	hsa-miR-1263	CLIP-seq
MIRT2486832	hsa-miR-1293	CLIP-seq
MIRT2486833	hsa-miR-1296	CLIP-seq
MIRT2486834	hsa-miR-136	CLIP-seq
MIRT2486835	hsa-miR-137	CLIP-seq
MIRT827383	hsa-miR-1470	CLIP-seq
MIRT2486836	hsa-miR-148a	CLIP-seq
MIRT2486837	hsa-miR-148b	CLIP-seq
MIRT2486838	hsa-miR-152	CLIP-seq
MIRT2486839	hsa-miR-15a	CLIP-seq
MIRT2486840	hsa-miR-15b	CLIP-seq
MIRT2486841	hsa-miR-16	CLIP-seq
MIRT2486842	hsa-miR-17	CLIP-seq
MIRT827369	hsa-miR-1827	CLIP-seq
MIRT2486843	hsa-miR-188-5p	CLIP-seq
MIRT2486844	hsa-miR-195	CLIP-seq
MIRT827370	hsa-miR-1976	CLIP-seq
MIRT2486845	hsa-miR-2053	CLIP-seq
MIRT2486846	hsa-miR-20a	CLIP-seq
MIRT2486847	hsa-miR-20b	CLIP-seq
MIRT827371	hsa-miR-219-2-3p	CLIP-seq
MIRT2486848	hsa-miR-24	CLIP-seq
MIRT2486849	hsa-miR-2467-5p	CLIP-seq
MIRT2486850	hsa-miR-302a	CLIP-seq
MIRT2486851	hsa-miR-302b	CLIP-seq
MIRT2486852	hsa-miR-302c	CLIP-seq
MIRT2486853	hsa-miR-302d	CLIP-seq
MIRT2486854	hsa-miR-302e	CLIP-seq
MIRT2444923	hsa-miR-3122	CLIP-seq
MIRT2486855	hsa-miR-3133	CLIP-seq
MIRT2486856	hsa-miR-3148	CLIP-seq
MIRT2486857	hsa-miR-3157-5p	CLIP-seq
MIRT2486858	hsa-miR-3165	CLIP-seq
MIRT2486859	hsa-miR-3188	CLIP-seq
MIRT2384905	hsa-miR-323b-5p	CLIP-seq
MIRT2486860	hsa-miR-339-5p	CLIP-seq
MIRT2486861	hsa-miR-3609	CLIP-seq
MIRT2486862	hsa-miR-3664-3p	CLIP-seq
MIRT2444924	hsa-miR-3689a-3p	CLIP-seq
MIRT2444925	hsa-miR-3689c	CLIP-seq
MIRT827373	hsa-miR-3690	CLIP-seq
MIRT2486863	hsa-miR-371-5p	CLIP-seq
MIRT2486864	hsa-miR-372	CLIP-seq
MIRT2486865	hsa-miR-373	CLIP-seq
MIRT2444926	hsa-miR-3913-5p	CLIP-seq
MIRT2486866	hsa-miR-3928	CLIP-seq
MIRT2183275	hsa-miR-3929	CLIP-seq
MIRT2486867	hsa-miR-3936	CLIP-seq
MIRT2486868	hsa-miR-3938	CLIP-seq
MIRT2486869	hsa-miR-3975	CLIP-seq
MIRT2486870	hsa-miR-3977	CLIP-seq
MIRT2486871	hsa-miR-409-3p	CLIP-seq
MIRT2486872	hsa-miR-424	CLIP-seq
MIRT827374	hsa-miR-4254	CLIP-seq
MIRT2486873	hsa-miR-4276	CLIP-seq
MIRT2486874	hsa-miR-4284	CLIP-seq
MIRT2486875	hsa-miR-4286	CLIP-seq
MIRT2486876	hsa-miR-4293	CLIP-seq
MIRT2183276	hsa-miR-4419b	CLIP-seq
MIRT2486877	hsa-miR-4426	CLIP-seq
MIRT2486878	hsa-miR-4443	CLIP-seq
MIRT827397	hsa-miR-4446-5p	CLIP-seq
MIRT2183277	hsa-miR-4478	CLIP-seq
MIRT2486879	hsa-miR-4483	CLIP-seq
MIRT2486880	hsa-miR-4485	CLIP-seq
MIRT2486881	hsa-miR-4512	CLIP-seq
MIRT827398	hsa-miR-4639-3p	CLIP-seq
MIRT2486882	hsa-miR-4647	CLIP-seq
MIRT2183278	hsa-miR-4649-3p	CLIP-seq
MIRT2486883	hsa-miR-4661-3p	CLIP-seq
MIRT2486884	hsa-miR-4662b	CLIP-seq
MIRT827399	hsa-miR-4667-3p	CLIP-seq
MIRT2486885	hsa-miR-4668-5p	CLIP-seq
MIRT2183281	hsa-miR-4712-5p	CLIP-seq
MIRT827375	hsa-miR-4722-5p	CLIP-seq
MIRT2486886	hsa-miR-4742-3p	CLIP-seq
MIRT827402	hsa-miR-4755-5p	CLIP-seq
MIRT2486887	hsa-miR-4760-5p	CLIP-seq
MIRT827376	hsa-miR-4768-3p	CLIP-seq
MIRT2486888	hsa-miR-4783-3p	CLIP-seq
MIRT2486889	hsa-miR-4796-3p	CLIP-seq
MIRT827377	hsa-miR-4797-5p	CLIP-seq
MIRT2183282	hsa-miR-485-5p	CLIP-seq
MIRT2486890	hsa-miR-496	CLIP-seq
MIRT2486891	hsa-miR-497	CLIP-seq
MIRT2486892	hsa-miR-501-5p	CLIP-seq
MIRT2384907	hsa-miR-509-3p	CLIP-seq
MIRT2486893	hsa-miR-515-5p	CLIP-seq
MIRT2486894	hsa-miR-519d	CLIP-seq
MIRT2486895	hsa-miR-520a-3p	CLIP-seq
MIRT2486896	hsa-miR-520b	CLIP-seq
MIRT2486897	hsa-miR-520c-3p	CLIP-seq
MIRT2486898	hsa-miR-520d-3p	CLIP-seq
MIRT2486899	hsa-miR-520e	CLIP-seq
MIRT2486900	hsa-miR-520f	CLIP-seq
MIRT2486901	hsa-miR-544b	CLIP-seq
MIRT2486902	hsa-miR-548ah	CLIP-seq
MIRT2486903	hsa-miR-548c-3p	CLIP-seq
MIRT2486904	hsa-miR-568	CLIP-seq
MIRT827409	hsa-miR-578	CLIP-seq
MIRT2384908	hsa-miR-584	CLIP-seq
MIRT2486905	hsa-miR-636	CLIP-seq
MIRT827413	hsa-miR-642a	CLIP-seq
MIRT2486906	hsa-miR-765	CLIP-seq
MIRT2183283	hsa-miR-770-5p	CLIP-seq
MIRT2486907	hsa-miR-873	CLIP-seq
MIRT2486908	hsa-miR-885-5p	CLIP-seq
MIRT2486909	hsa-miR-888	CLIP-seq
MIRT2486910	hsa-miR-93	CLIP-seq
MIRT827381	hsa-miR-940	CLIP-seq
MIRT2486829	hsa-miR-106a	CLIP-seq
MIRT2486830	hsa-miR-106b	CLIP-seq
MIRT2486831	hsa-miR-1263	CLIP-seq
MIRT2486832	hsa-miR-1293	CLIP-seq
MIRT2486834	hsa-miR-136	CLIP-seq
MIRT2486835	hsa-miR-137	CLIP-seq
MIRT2486836	hsa-miR-148a	CLIP-seq
MIRT2486837	hsa-miR-148b	CLIP-seq
MIRT2486838	hsa-miR-152	CLIP-seq
MIRT2486839	hsa-miR-15a	CLIP-seq
MIRT2486840	hsa-miR-15b	CLIP-seq
MIRT2486841	hsa-miR-16	CLIP-seq
MIRT2486842	hsa-miR-17	CLIP-seq
MIRT827369	hsa-miR-1827	CLIP-seq
MIRT2486843	hsa-miR-188-5p	CLIP-seq
MIRT2486844	hsa-miR-195	CLIP-seq
MIRT827370	hsa-miR-1976	CLIP-seq
MIRT2486846	hsa-miR-20a	CLIP-seq
MIRT2486847	hsa-miR-20b	CLIP-seq
MIRT2486848	hsa-miR-24	CLIP-seq
MIRT2486850	hsa-miR-302a	CLIP-seq
MIRT2486851	hsa-miR-302b	CLIP-seq
MIRT2486852	hsa-miR-302c	CLIP-seq
MIRT2486853	hsa-miR-302d	CLIP-seq
MIRT2486854	hsa-miR-302e	CLIP-seq
MIRT2444923	hsa-miR-3122	CLIP-seq
MIRT2486858	hsa-miR-3165	CLIP-seq
MIRT2486860	hsa-miR-339-5p	CLIP-seq
MIRT2486861	hsa-miR-3609	CLIP-seq
MIRT2486862	hsa-miR-3664-3p	CLIP-seq
MIRT2444924	hsa-miR-3689a-3p	CLIP-seq
MIRT2444925	hsa-miR-3689c	CLIP-seq
MIRT827373	hsa-miR-3690	CLIP-seq
MIRT2486863	hsa-miR-371-5p	CLIP-seq
MIRT2486864	hsa-miR-372	CLIP-seq
MIRT2486865	hsa-miR-373	CLIP-seq
MIRT2444926	hsa-miR-3913-5p	CLIP-seq
MIRT2183275	hsa-miR-3929	CLIP-seq
MIRT2486867	hsa-miR-3936	CLIP-seq
MIRT2486868	hsa-miR-3938	CLIP-seq
MIRT2486870	hsa-miR-3977	CLIP-seq
MIRT2486871	hsa-miR-409-3p	CLIP-seq
MIRT2486872	hsa-miR-424	CLIP-seq
MIRT827374	hsa-miR-4254	CLIP-seq
MIRT2486873	hsa-miR-4276	CLIP-seq
MIRT2486874	hsa-miR-4284	CLIP-seq
MIRT2183276	hsa-miR-4419b	CLIP-seq
MIRT2486877	hsa-miR-4426	CLIP-seq
MIRT2183277	hsa-miR-4478	CLIP-seq
MIRT2486879	hsa-miR-4483	CLIP-seq
MIRT2486882	hsa-miR-4647	CLIP-seq
MIRT2183278	hsa-miR-4649-3p	CLIP-seq
MIRT2486883	hsa-miR-4661-3p	CLIP-seq
MIRT2486884	hsa-miR-4662b	CLIP-seq
MIRT2486885	hsa-miR-4668-5p	CLIP-seq
MIRT2183281	hsa-miR-4712-5p	CLIP-seq
MIRT2486886	hsa-miR-4742-3p	CLIP-seq
MIRT2486887	hsa-miR-4760-5p	CLIP-seq
MIRT2486888	hsa-miR-4783-3p	CLIP-seq
MIRT2486889	hsa-miR-4796-3p	CLIP-seq
MIRT827377	hsa-miR-4797-5p	CLIP-seq
MIRT2183282	hsa-miR-485-5p	CLIP-seq
MIRT2486890	hsa-miR-496	CLIP-seq
MIRT2486891	hsa-miR-497	CLIP-seq
MIRT2486892	hsa-miR-501-5p	CLIP-seq
MIRT2486893	hsa-miR-515-5p	CLIP-seq
MIRT2486894	hsa-miR-519d	CLIP-seq
MIRT2486895	hsa-miR-520a-3p	CLIP-seq
MIRT2486896	hsa-miR-520b	CLIP-seq
MIRT2486897	hsa-miR-520c-3p	CLIP-seq
MIRT2486898	hsa-miR-520d-3p	CLIP-seq
MIRT2486899	hsa-miR-520e	CLIP-seq
MIRT2486900	hsa-miR-520f	CLIP-seq
MIRT2486902	hsa-miR-548ah	CLIP-seq
MIRT2486903	hsa-miR-548c-3p	CLIP-seq
MIRT2486904	hsa-miR-568	CLIP-seq
MIRT2486905	hsa-miR-636	CLIP-seq
MIRT2183283	hsa-miR-770-5p	CLIP-seq
MIRT2486907	hsa-miR-873	CLIP-seq
MIRT2486908	hsa-miR-885-5p	CLIP-seq
MIRT2486909	hsa-miR-888	CLIP-seq
MIRT2486910	hsa-miR-93	CLIP-seq
MIRT827381	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	IBA
GO:0001819	Process	Positive regulation of cytokine production	IDA	21918970
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	21982860, 25637025, 29339503, 32814053, 33961781
GO:0005886	Component	Plasma membrane	IDA	21918970
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0032729	Process	Positive regulation of type II interferon production	IMP	21918970
GO:0050798	Process	Activated T cell proliferation	IMP	21918970
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050852	Process	T cell receptor signaling pathway	IDA	21918970

Other IDs

• MIM: 613593
• HGNC: 1138
• e!Ensembl: ENSG00000026950

Protein

• UniProt ID: O00481
• Protein name: Butyrophilin subfamily 3 member A1 (CD antigen CD277)
• Protein function: Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and trans
• PDB: 4F80, 4F9L, 4F9P, 4JKW, 4K55, 4N7I, 4N7U, 4V1P, 5HM7, 5LYG, 5LYK, 5ZXK, 6ISM, 6ITA, 6J06, 6XLQ, 8DFX, 8IXV, 8IZE, 8IZG, 8JYC, 8JYE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	35 → 144	Immunoglobulin V-set domain	Domain
  PF13765	PRY	342 → 390	SPRY-associated domain	Family
  PF00622	SPRY	394 → 505	SPRY domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected on T-cells, natural killer cells, dendritic cells and macrophages (at protein level). Ubiquitous. Highly expressed in heart, pancreas and lung, Moderately expressed in placenta, liver and muscle. {ECO:0000269|PubMed:20610803,
• Sequence:

  MKMASFLAFLLLNFRVCLLLLQLLMPHSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSA
  ETMELKWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASD
  SGKYLCYFQDGDFYEKALVELKVAALGSDLHVDVKGYKDGGIHLECRSTGWYPQPQIQWS
  NNKGENIPTVEAPVVADGVGLYAVAASVIMRGSSGEGVSCTIRSSLLGLEKTASISIADP
  FFRSAQRWIAALAGTLPVLLLLLGGAGYFLWQQQEEKKTQFRKKKREQELREMAWSTMKQ
  EQSTRVKLLEELRWRSIQYASRGERHSAYNEWKKALFKPADVILDPKTANPILLVSEDQR
  SVQRAKEPQDLPDNPERFNWHYCVLGCESFISGRHYWEVEVGDRKEWHIGVCSKNVQRKG
  WVKMTPENGFWTMGLTDGNKYRTLTEPRTNLKLPKPPKKVGVFLDYETGDISFYNAVDGS
  HIHTFLDVSFSEALYPVFRILTLEPTALTICPA

• Sequence length: 513

Pathways

Reactome:

Butyrophilin (BTN) family interactions

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
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	28785923		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34293829	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21113407		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28934294	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28405500		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36543375	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36418890	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37770968	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37770968	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	36096643	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21113407		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28785923, 30871629		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36437242	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	39769218	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28405500		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21113407		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21113407, 37179293	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	36288286	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	36288286	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35281069	Associate	★☆☆☆☆ Found in Text Mining only