CR1 (complement C3b/C4b receptor 1 (Knops blood group))

Gene

• Entrez ID: 1378
• Gene name: Complement C3b/C4b receptor 1 (Knops blood group)
• Gene symbol: CR1
• Synonyms (NCBI Gene): C3BR, C4BR, CD35, KN
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: This gene is a member of the receptors of complement activation (RCA) family and is located in the `cluster RCA` region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047066	hsa-miR-183-5p	CLASH	23622248
MIRT907825	hsa-miR-10a	CLIP-seq
MIRT907826	hsa-miR-10b	CLIP-seq
MIRT907827	hsa-miR-1207-5p	CLIP-seq
MIRT907828	hsa-miR-1268	CLIP-seq
MIRT907829	hsa-miR-1268b	CLIP-seq
MIRT907830	hsa-miR-1297	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT907832	hsa-miR-26a	CLIP-seq
MIRT907833	hsa-miR-26b	CLIP-seq
MIRT907834	hsa-miR-3165	CLIP-seq
MIRT907835	hsa-miR-329	CLIP-seq
MIRT907836	hsa-miR-339-5p	CLIP-seq
MIRT907837	hsa-miR-3613-3p	CLIP-seq
MIRT907838	hsa-miR-362-3p	CLIP-seq
MIRT907839	hsa-miR-3665	CLIP-seq
MIRT907840	hsa-miR-3667-5p	CLIP-seq
MIRT907841	hsa-miR-376a	CLIP-seq
MIRT907842	hsa-miR-376b	CLIP-seq
MIRT907843	hsa-miR-3941	CLIP-seq
MIRT907844	hsa-miR-4421	CLIP-seq
MIRT907845	hsa-miR-4433	CLIP-seq
MIRT907846	hsa-miR-4459	CLIP-seq
MIRT907847	hsa-miR-4465	CLIP-seq
MIRT907848	hsa-miR-451b	CLIP-seq
MIRT907849	hsa-miR-4683	CLIP-seq
MIRT907850	hsa-miR-4684-5p	CLIP-seq
MIRT907851	hsa-miR-4696	CLIP-seq
MIRT907852	hsa-miR-4725-5p	CLIP-seq
MIRT907853	hsa-miR-4736	CLIP-seq
MIRT907854	hsa-miR-4763-3p	CLIP-seq
MIRT907855	hsa-miR-4768-3p	CLIP-seq
MIRT907856	hsa-miR-4793-5p	CLIP-seq
MIRT907857	hsa-miR-4794	CLIP-seq
MIRT907858	hsa-miR-504	CLIP-seq
MIRT907859	hsa-miR-515-5p	CLIP-seq
MIRT907860	hsa-miR-548a-3p	CLIP-seq
MIRT907861	hsa-miR-548a-5p	CLIP-seq
MIRT907862	hsa-miR-548ab	CLIP-seq
MIRT907863	hsa-miR-548ac	CLIP-seq
MIRT907864	hsa-miR-548ae	CLIP-seq
MIRT907865	hsa-miR-548aj	CLIP-seq
MIRT907866	hsa-miR-548ak	CLIP-seq
MIRT907867	hsa-miR-548am	CLIP-seq
MIRT907868	hsa-miR-548b-5p	CLIP-seq
MIRT907869	hsa-miR-548c-3p	CLIP-seq
MIRT907870	hsa-miR-548c-5p	CLIP-seq
MIRT907871	hsa-miR-548d-3p	CLIP-seq
MIRT907872	hsa-miR-548d-5p	CLIP-seq
MIRT907873	hsa-miR-548e	CLIP-seq
MIRT907874	hsa-miR-548f	CLIP-seq
MIRT907875	hsa-miR-548h	CLIP-seq
MIRT907876	hsa-miR-548i	CLIP-seq
MIRT907877	hsa-miR-548j	CLIP-seq
MIRT907878	hsa-miR-548w	CLIP-seq
MIRT907879	hsa-miR-548x	CLIP-seq
MIRT907880	hsa-miR-548y	CLIP-seq
MIRT907881	hsa-miR-548z	CLIP-seq
MIRT907882	hsa-miR-559	CLIP-seq
MIRT907883	hsa-miR-579	CLIP-seq
MIRT907884	hsa-miR-595	CLIP-seq
MIRT907885	hsa-miR-603	CLIP-seq
MIRT907886	hsa-miR-648	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq
MIRT907888	hsa-miR-944	CLIP-seq
MIRT907889	hsa-miR-125a-3p	CLIP-seq
MIRT907830	hsa-miR-1297	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT907832	hsa-miR-26a	CLIP-seq
MIRT907833	hsa-miR-26b	CLIP-seq
MIRT907890	hsa-miR-297	CLIP-seq
MIRT907891	hsa-miR-3121-5p	CLIP-seq
MIRT907892	hsa-miR-3122	CLIP-seq
MIRT907893	hsa-miR-3147	CLIP-seq
MIRT907834	hsa-miR-3165	CLIP-seq
MIRT907894	hsa-miR-3609	CLIP-seq
MIRT907895	hsa-miR-3664-3p	CLIP-seq
MIRT907839	hsa-miR-3665	CLIP-seq
MIRT907896	hsa-miR-3689a-3p	CLIP-seq
MIRT907897	hsa-miR-3689c	CLIP-seq
MIRT907898	hsa-miR-3913-5p	CLIP-seq
MIRT907899	hsa-miR-3929	CLIP-seq
MIRT907900	hsa-miR-4419b	CLIP-seq
MIRT907901	hsa-miR-4425	CLIP-seq
MIRT907845	hsa-miR-4433	CLIP-seq
MIRT907846	hsa-miR-4459	CLIP-seq
MIRT907847	hsa-miR-4465	CLIP-seq
MIRT907902	hsa-miR-4478	CLIP-seq
MIRT907903	hsa-miR-4490	CLIP-seq
MIRT907904	hsa-miR-4641	CLIP-seq
MIRT907905	hsa-miR-4649-3p	CLIP-seq
MIRT907849	hsa-miR-4683	CLIP-seq
MIRT907906	hsa-miR-4695-5p	CLIP-seq
MIRT907907	hsa-miR-4728-5p	CLIP-seq
MIRT907908	hsa-miR-4733-5p	CLIP-seq
MIRT907853	hsa-miR-4736	CLIP-seq
MIRT907855	hsa-miR-4768-3p	CLIP-seq
MIRT907856	hsa-miR-4793-5p	CLIP-seq
MIRT907857	hsa-miR-4794	CLIP-seq
MIRT907909	hsa-miR-485-5p	CLIP-seq
MIRT907910	hsa-miR-510	CLIP-seq
MIRT907911	hsa-miR-512-5p	CLIP-seq
MIRT907912	hsa-miR-542-3p	CLIP-seq
MIRT907913	hsa-miR-548ah	CLIP-seq
MIRT907914	hsa-miR-548t	CLIP-seq
MIRT907915	hsa-miR-552	CLIP-seq
MIRT907916	hsa-miR-567	CLIP-seq
MIRT907917	hsa-miR-606	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT1969113	hsa-miR-2964a-3p	CLIP-seq
MIRT1969114	hsa-miR-300	CLIP-seq
MIRT1969115	hsa-miR-302f	CLIP-seq
MIRT907892	hsa-miR-3122	CLIP-seq
MIRT907896	hsa-miR-3689a-3p	CLIP-seq
MIRT907897	hsa-miR-3689c	CLIP-seq
MIRT1969116	hsa-miR-369-3p	CLIP-seq
MIRT1969117	hsa-miR-374c	CLIP-seq
MIRT1969118	hsa-miR-381	CLIP-seq
MIRT907898	hsa-miR-3913-5p	CLIP-seq
MIRT1969119	hsa-miR-4252	CLIP-seq
MIRT907845	hsa-miR-4433	CLIP-seq
MIRT907846	hsa-miR-4459	CLIP-seq
MIRT1969120	hsa-miR-4720-3p	CLIP-seq
MIRT907907	hsa-miR-4728-5p	CLIP-seq
MIRT907855	hsa-miR-4768-3p	CLIP-seq
MIRT1969121	hsa-miR-4793-3p	CLIP-seq
MIRT1969122	hsa-miR-4804-3p	CLIP-seq
MIRT1969123	hsa-miR-508-5p	CLIP-seq
MIRT1969124	hsa-miR-655	CLIP-seq
MIRT1969125	hsa-miR-661	CLIP-seq
MIRT1969126	hsa-miR-766	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq
MIRT907827	hsa-miR-1207-5p	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT907892	hsa-miR-3122	CLIP-seq
MIRT907834	hsa-miR-3165	CLIP-seq
MIRT907839	hsa-miR-3665	CLIP-seq
MIRT907896	hsa-miR-3689a-3p	CLIP-seq
MIRT907897	hsa-miR-3689c	CLIP-seq
MIRT907898	hsa-miR-3913-5p	CLIP-seq
MIRT1969119	hsa-miR-4252	CLIP-seq
MIRT2205109	hsa-miR-4422	CLIP-seq
MIRT907845	hsa-miR-4433	CLIP-seq
MIRT907846	hsa-miR-4459	CLIP-seq
MIRT2205110	hsa-miR-4537	CLIP-seq
MIRT907849	hsa-miR-4683	CLIP-seq
MIRT907907	hsa-miR-4728-5p	CLIP-seq
MIRT907853	hsa-miR-4736	CLIP-seq
MIRT907854	hsa-miR-4763-3p	CLIP-seq
MIRT907855	hsa-miR-4768-3p	CLIP-seq
MIRT1969121	hsa-miR-4793-3p	CLIP-seq
MIRT907856	hsa-miR-4793-5p	CLIP-seq
MIRT907857	hsa-miR-4794	CLIP-seq
MIRT1969123	hsa-miR-508-5p	CLIP-seq
MIRT1969126	hsa-miR-766	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq
MIRT907828	hsa-miR-1268	CLIP-seq
MIRT907829	hsa-miR-1268b	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT2447566	hsa-miR-194	CLIP-seq
MIRT907892	hsa-miR-3122	CLIP-seq
MIRT907834	hsa-miR-3165	CLIP-seq
MIRT907837	hsa-miR-3613-3p	CLIP-seq
MIRT907839	hsa-miR-3665	CLIP-seq
MIRT907840	hsa-miR-3667-5p	CLIP-seq
MIRT907896	hsa-miR-3689a-3p	CLIP-seq
MIRT907897	hsa-miR-3689c	CLIP-seq
MIRT2447567	hsa-miR-371-5p	CLIP-seq
MIRT2447568	hsa-miR-371b-5p	CLIP-seq
MIRT907898	hsa-miR-3913-5p	CLIP-seq
MIRT907848	hsa-miR-451b	CLIP-seq
MIRT907850	hsa-miR-4684-5p	CLIP-seq
MIRT907851	hsa-miR-4696	CLIP-seq
MIRT907852	hsa-miR-4725-5p	CLIP-seq
MIRT907907	hsa-miR-4728-5p	CLIP-seq
MIRT907853	hsa-miR-4736	CLIP-seq
MIRT1969121	hsa-miR-4793-3p	CLIP-seq
MIRT907856	hsa-miR-4793-5p	CLIP-seq
MIRT907857	hsa-miR-4794	CLIP-seq
MIRT907858	hsa-miR-504	CLIP-seq
MIRT1969123	hsa-miR-508-5p	CLIP-seq
MIRT907869	hsa-miR-548c-3p	CLIP-seq
MIRT2447569	hsa-miR-555	CLIP-seq
MIRT1969125	hsa-miR-661	CLIP-seq
MIRT1969126	hsa-miR-766	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq
MIRT907825	hsa-miR-10a	CLIP-seq
MIRT907826	hsa-miR-10b	CLIP-seq
MIRT907827	hsa-miR-1207-5p	CLIP-seq
MIRT907828	hsa-miR-1268	CLIP-seq
MIRT907829	hsa-miR-1268b	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT2447566	hsa-miR-194	CLIP-seq
MIRT907892	hsa-miR-3122	CLIP-seq
MIRT907834	hsa-miR-3165	CLIP-seq
MIRT907836	hsa-miR-339-5p	CLIP-seq
MIRT907837	hsa-miR-3613-3p	CLIP-seq
MIRT2508452	hsa-miR-361-5p	CLIP-seq
MIRT907839	hsa-miR-3665	CLIP-seq
MIRT907840	hsa-miR-3667-5p	CLIP-seq
MIRT907896	hsa-miR-3689a-3p	CLIP-seq
MIRT907897	hsa-miR-3689c	CLIP-seq
MIRT2447567	hsa-miR-371-5p	CLIP-seq
MIRT2447568	hsa-miR-371b-5p	CLIP-seq
MIRT907898	hsa-miR-3913-5p	CLIP-seq
MIRT907844	hsa-miR-4421	CLIP-seq
MIRT907845	hsa-miR-4433	CLIP-seq
MIRT907846	hsa-miR-4459	CLIP-seq
MIRT907848	hsa-miR-451b	CLIP-seq
MIRT907849	hsa-miR-4683	CLIP-seq
MIRT907850	hsa-miR-4684-5p	CLIP-seq
MIRT907851	hsa-miR-4696	CLIP-seq
MIRT907852	hsa-miR-4725-5p	CLIP-seq
MIRT907907	hsa-miR-4728-5p	CLIP-seq
MIRT907853	hsa-miR-4736	CLIP-seq
MIRT907854	hsa-miR-4763-3p	CLIP-seq
MIRT907855	hsa-miR-4768-3p	CLIP-seq
MIRT1969121	hsa-miR-4793-3p	CLIP-seq
MIRT907856	hsa-miR-4793-5p	CLIP-seq
MIRT907857	hsa-miR-4794	CLIP-seq
MIRT907858	hsa-miR-504	CLIP-seq
MIRT1969123	hsa-miR-508-5p	CLIP-seq
MIRT907859	hsa-miR-515-5p	CLIP-seq
MIRT907869	hsa-miR-548c-3p	CLIP-seq
MIRT2447569	hsa-miR-555	CLIP-seq
MIRT1969125	hsa-miR-661	CLIP-seq
MIRT2508453	hsa-miR-764	CLIP-seq
MIRT1969126	hsa-miR-766	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq
MIRT907825	hsa-miR-10a	CLIP-seq
MIRT907826	hsa-miR-10b	CLIP-seq
MIRT907827	hsa-miR-1207-5p	CLIP-seq
MIRT907828	hsa-miR-1268	CLIP-seq
MIRT907829	hsa-miR-1268b	CLIP-seq
MIRT907831	hsa-miR-1827	CLIP-seq
MIRT2447566	hsa-miR-194	CLIP-seq
MIRT907892	hsa-miR-3122	CLIP-seq
MIRT907836	hsa-miR-339-5p	CLIP-seq
MIRT907837	hsa-miR-3613-3p	CLIP-seq
MIRT2508452	hsa-miR-361-5p	CLIP-seq
MIRT907839	hsa-miR-3665	CLIP-seq
MIRT907840	hsa-miR-3667-5p	CLIP-seq
MIRT907896	hsa-miR-3689a-3p	CLIP-seq
MIRT907897	hsa-miR-3689c	CLIP-seq
MIRT2447567	hsa-miR-371-5p	CLIP-seq
MIRT2447568	hsa-miR-371b-5p	CLIP-seq
MIRT907898	hsa-miR-3913-5p	CLIP-seq
MIRT907844	hsa-miR-4421	CLIP-seq
MIRT907848	hsa-miR-451b	CLIP-seq
MIRT907850	hsa-miR-4684-5p	CLIP-seq
MIRT907851	hsa-miR-4696	CLIP-seq
MIRT907852	hsa-miR-4725-5p	CLIP-seq
MIRT907907	hsa-miR-4728-5p	CLIP-seq
MIRT907853	hsa-miR-4736	CLIP-seq
MIRT907854	hsa-miR-4763-3p	CLIP-seq
MIRT1969121	hsa-miR-4793-3p	CLIP-seq
MIRT907856	hsa-miR-4793-5p	CLIP-seq
MIRT907857	hsa-miR-4794	CLIP-seq
MIRT907858	hsa-miR-504	CLIP-seq
MIRT1969123	hsa-miR-508-5p	CLIP-seq
MIRT907869	hsa-miR-548c-3p	CLIP-seq
MIRT2447569	hsa-miR-555	CLIP-seq
MIRT1969125	hsa-miR-661	CLIP-seq
MIRT1969126	hsa-miR-766	CLIP-seq
MIRT907887	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	10533284

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001848	Function	Complement binding	IEA
GO:0001851	Function	Complement component C3b binding	IDA	2972794
GO:0001855	Function	Complement component C4b binding	IDA	2972794
GO:0001861	Function	Complement component C4b receptor activity	IDA	2972794
GO:0001970	Process	Positive regulation of activation of membrane attack complex	IMP	11981823
GO:0001971	Process	Negative regulation of activation of membrane attack complex	IDA	31862673
GO:0002376	Process	Immune system process	IEA
GO:0002430	Process	Complement receptor mediated signaling pathway	IDA	16360013, 22962438
GO:0002435	Process	Immune complex clearance by erythrocytes	IDA	24022490
GO:0002456	Process	T cell mediated immunity	IBA
GO:0002638	Process	Negative regulation of immunoglobulin production	IDA	22962438
GO:0004875	Function	Complement receptor activity	IEA
GO:0004877	Function	Complement component C3b receptor activity	IDA	2972794
GO:0005515	Function	Protein binding	IPI	18684861, 23460739, 29563915
GO:0005615	Component	Extracellular space	IBA
GO:0005856	Component	Cytoskeleton	IDA	18684861
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	6910481
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006957	Process	Complement activation, alternative pathway	IMP	11981823
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007009	Process	Plasma membrane organization	IDA	24022490
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	25742728
GO:0009986	Component	Cell surface	IDA	2972794, 6978375, 25742728
GO:0016020	Component	Membrane	IEA
GO:0030449	Process	Regulation of complement activation	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0032689	Process	Negative regulation of type II interferon production	IDA	16360013
GO:0032703	Process	Negative regulation of interleukin-2 production	IDA	16360013
GO:0042130	Process	Negative regulation of T cell proliferation	IDA	16360013
GO:0044853	Component	Plasma membrane raft	IDA	24022490
GO:0045087	Process	Innate immune response	IEA
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IDA	25742728
GO:0045916	Process	Negative regulation of complement activation	IDA	31862673
GO:0045957	Process	Negative regulation of complement activation, alternative pathway	IDA	10531307
GO:0045959	Process	Negative regulation of complement activation, classical pathway	IBA
GO:0045959	Process	Negative regulation of complement activation, classical pathway	IDA	6910481, 10531307
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1900004	Process	Negative regulation of serine-type endopeptidase activity	IDA	6910481
GO:1900005	Process	Positive regulation of serine-type endopeptidase activity	IDA	2972794
GO:1900099	Process	Negative regulation of plasma cell differentiation	IDA	22962438
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IEA
GO:1903660	Process	Negative regulation of complement-dependent cytotoxicity	IDA	31862673
GO:1904669	Process	ATP export	IDA	24022490

Other IDs

• MIM: 120620
• HGNC: 2334
• e!Ensembl: ENSG00000203710

Protein

• UniProt ID: P17927
• Protein name: Complement receptor type 1 (C3b/C4b receptor) (CD antigen CD35)
• Protein function: Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune
• PDB: 1GKG, 1GKN, 1PPQ, 2MCY, 2MCZ, 2Q7Z, 5FO9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	43 → 99	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	104 → 161	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	166 → 232	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	238 → 293	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	297 → 353	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	362 → 416	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	421 → 487	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	493 → 549	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	554 → 611	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	616 → 682	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	688 → 743	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	747 → 803	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	812 → 866	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	871 → 937	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	943 → 999	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1004 → 1061	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1066 → 1132	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1138 → 1193	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1197 → 1253	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1260 → 1316	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1321 → 1387	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1396 → 1452	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1457 → 1514	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1519 → 1585	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1591 → 1646	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1650 → 1706	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1713 → 1769	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1774 → 1840	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1848 → 1904	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1910 → 1965	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present on erythrocytes, a subset of T cells, mature B cells, follicular dendritic cells, monocytes and granulocytes. {ECO:0000269|PubMed:1534036, ECO:0000269|PubMed:25742728, ECO:0000269|PubMed:6233222}.
• Sequence:

  MGASSPRSPEPVGPPAPGLPFCCGGSLLAVVVLLALPVAWGQCNAPEWLPFARPTNLTDE
  FEFPIGTYLNYECRPGYSGRPFSIICLKNSVWTGAKDRCRRKSCRNPPDPVNGMVHVIKG
  IQFGSQIKYSCTKGYRLIGSSSATCIISGDTVIWDNETPICDRIPCGLPPTITNGDFIST
  NRENFHYGSVVTYRCNPGSGGRKVFELVGEPSIYCTSNDDQVGIWSGPAPQCIIPNKCTP
  PNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEPELPSCSRVCQPP
  PDVLHAERTQRDKDNFSPGQEVFYSCEPGYDLRGAASMRCTPQGDWSPAAPTCEVKSCDD
  FMGQLLNGRVLFPVNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESLWNSSVPVCEQIF
  CPSPPVIPNGRHTGKPLEVFPFGKTVNYTCDPHPDRGTSFDLIGESTIRCTSDPQGNGVW
  SSPAPRCGILGHCQAPDHFLFAKLKTQTNASDFPIGTSLKYECRPEYYGRPFSITCLDNL
  VWSSPKDVCKRKSCKTPPDPVNGMVHVITDIQVGSRINYSCTTGHRLIGHSSAECILSGN
  AAHWSTKPPICQRIPCGLPPTIANGDFISTNRENFHYGSVVTYRCNPGSGGRKVFELVGE
  PSIYCTSNDDQVGIWSGPAPQCIIPNKCTPPNVENGILVSDNRSLFSLNEVVEFRCQPGF
  VMKGPRRVKCQALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSCEPGY
  DLRGAASMRCTPQGDWSPAAPTCEVKSCDDFMGQLLNGRVLFPVNLQLGAKVDFVCDEGF
  QLKGSSASYCVLAGMESLWNSSVPVCEQIFCPSPPVIPNGRHTGKPLEVFPFGKAVNYTC
  DPHPDRGTSFDLIGESTIRCTSDPQGNGVWSSPAPRCGILGHCQAPDHFLFAKLKTQTNA
  SDFPIGTSLKYECRPEYYGRPFSITCLDNLVWSSPKDVCKRKSCKTPPDPVNGMVHVITD
  IQVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSTKPPICQRIPCGLPPTIANGDFIST
  NRENFHYGSVVTYRCNLGSRGRKVFELVGEPSIYCTSNDDQVGIWSGPAPQCIIPNKCTP
  PNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEPELPSCSRVCQPP
  PEILHGEHTPSHQDNFSPGQEVFYSCEPGYDLRGAASLHCTPQGDWSPEAPRCAVKSCDD
  FLGQLPHGRVLFPLNLQLGAKVSFVCDEGFRLKGSSVSHCVLVGMRSLWNNSVPVCEHIF
  CPNPPAILNGRHTGTPSGDIPYGKEISYTCDPHPDRGMTFNLIGESTIRCTSDPHGNGVW
  SSPAPRCELSVRAGHCKTPEQFPFASPTIPINDFEFPVGTSLNYECRPGYFGKMFSISCL
  ENLVWSSVEDNCRRKSCGPPPEPFNGMVHINTDTQFGSTVNYSCNEGFRLIGSPSTTCLV
  SGNNVTWDKKAPICEIISCEPPPTISNGDFYSNNRTSFHNGTVVTYQCHTGPDGEQLFEL
  VGERSIYCTSKDDQVGVWSSPPPRCISTNKCTAPEVENAIRVPGNRSFFSLTEIIRFRCQ
  PGFVMVGSHTVQCQTNGRWGPKLPHCSRVCQPPPEILHGEHTLSHQDNFSPGQEVFYSCE
  PSYDLRGAASLHCTPQGDWSPEAPRCTVKSCDDFLGQLPHGRVLLPLNLQLGAKVSFVCD
  EGFRLKGRSASHCVLAGMKALWNSSVPVCEQIFCPNPPAILNGRHTGTPFGDIPYGKEIS
  YACDTHPDRGMTFNLIGESSIRCTSDPQGNGVWSSPAPRCELSVPAACPHPPKIQNGHYI
  GGHVSLYLPGMTISYICDPGYLLVGKGFIFCTDQGIWSQLDHYCKEVNCSFPLFMNGISK
  ELEMKKVYHYGDYVTLKCEDGYTLEGSPWSQCQADDRWDPPLAKCTSRTHDALIVGTLSG
  TIFFILLIIFLSWIILKHRKGNNAHENPKEVAIHLHSQGGSSVHPRTLQTNEENSRVLP

• Sequence length: 2039

Pathways

KEGG:

Complement and coagulation cascades
Neutrophil extracellular trap formation
Hematopoietic cell lineage
Legionellosis
Leishmaniasis
Malaria
Tuberculosis

Reactome:

Neutrophil degranulation
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Regulation of Complement cascade

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
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITIVE DYSFUNCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CR1-related disorder	Benign; protective; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ 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
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KNOPS BLOOD GROUP SYSTEM	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malaria, severe, resistance to	Benign; protective	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malaria, susceptibility to	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarticular arthritis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	10786621, 1708808		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31692030		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	14694201		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	LHGDN	14694201		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	14694201		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19734903, 20209083, 20534741, 20554627, 20558387, 20697030, 20739100, 21220176, 21379329, 21391232, 21459483, 21912625, 22015308, 22262751, 22343410, 22445811, 22539578, 22952074, 22982105, 23022416, 23202439, 23360175, 23419238, 23643458, 23954108, 25600633, 25723573, 25778476, 26243271, 26680604, 26914463, 27371493, 27789410, 28199971, 28222301, 28650998, 28745649, 29212848, 29675612, 30044434, 30783207, 31104630, 31607776, 32709662, 32919460, 32941707, 32986668, 32991610, 33516273, 33522999, 33804666, 34092785, 34752346, 34958020, 35436980, 35811524, 36181103, 37101235, 37480051, 38241287, 38527854, 40471990, 40631443	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	23226438	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	29792870	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	20558149, 22402018, 22960360, 24018213, 29675612		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	19734903, 21460840, 21460841, 24162737, 25778476, 29777097, 30617256, 30805717, 31473137		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	19734903, 21460840, 21460841, 24162737		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	22262751, 30783207		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	22761633	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	30429373	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	22405566	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18971423, 19578791		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10193433, 1575573	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20850384, 9472668	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	2141558, 2158365, 24433281	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10779280, 28328807		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16600024	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18971423, 19578791		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	25608561		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	25608561	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	12519402, 2974768	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22962438		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	18954403		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	LHGDN	18954403		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21891868		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	19734903, 23022416	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21933397, 23129342, 29274778		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	28096309		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24621201	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17291450	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24621201		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35955933	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29323238		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20538029, 28033544		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25600633, 28033544	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	22262751, 36181103	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	22262751, 30836997, 36181103	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	15526369	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	Pubtator	15526369	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	19906204		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	19906204		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	19906204	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20538029		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21391232, 22343410, 22952074, 29212848	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23226438	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	22343410	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	17291450	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31692030		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17291450	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30529247		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	28707765		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28033544		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19578791, 28033544, 31555286		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28033544, 31555286	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28033544		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10853863	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	20655368		★☆☆☆☆ Found in Text Mining only
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	BEFREE	20655368		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	21297263, 23226438, 24438528, 36191742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	22244847		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	1352745	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1352745		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16837818		★☆☆☆☆ Found in Text Mining only
dopamine beta hydroxylase deficiency		Pubtator	15381816	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24438528	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19578791		★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	18173836, 20655368		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	26844958	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32941707	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	15526369, 19906204		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	15526369, 19906204	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	12519402, 8080606	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	15072851, 20702729		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	20495534	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	11135068	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	11135068	Inhibit	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25214719	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	20018869	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	2899464	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	2185273, 24038027	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	2958187	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12773320, 15733500, 18937792		★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	27565523		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CTD_human_DG	30503753		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11135068, 9161700	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	20538029		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	15381816, 30092084, 3159807	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	30092084		★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	3159807	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9639530		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	23416052, 3118989	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	2158365	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34619772	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	32847610	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	38527854	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30529247		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12235086, 30529247		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	12519402	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12235086	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	32941707	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24621201	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10594568, 12519402, 12667215, 1352746, 1531948, 15529364, 22761633, 27981054, 2937582, 2958190, 2974768, 4019777, 6230413, 9161700	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	1685310, 2955969, 2958187, 3987091, 7621593	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1352746, 15163541, 15864913, 16133175, 21659422, 2573360, 2881967, 2941021, 2958187, 2958190, 2959289, 3987091, 6230413, 8706338		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	15176657, 15529364, 16289666		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	11135068	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19466261	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	26700650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	12028024	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	26700650	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	26700650		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21933397, 23129342, 29274778		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	19906204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24621201		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23129342		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	12542483, 25171703, 9531582	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9182821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	9182821	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	22244847		★☆☆☆☆ Found in Text Mining only
Mesenteric vascular insufficiency	Mesenteric Vascular Insufficiency	BEFREE	15557203		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	CTD_human_DG	30503753		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30783207		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	34895171	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12519402	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	12519402	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28033544		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28033544	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	8617966		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23464487		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23464487	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30529247		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	15864913		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	11135068	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25600633	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24621201, 31177178		★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	BEFREE	20889874		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21912625, 37108258, 39667505	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	24038027, 29551496, 6576376		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	31824479		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	19734903, 21460841		★☆☆☆☆ Found in Text Mining only
Recurrent depression	Mental Depression	BEFREE	22244847		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22962438, 24433281		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	12091241, 12773320, 17999656, 22609476		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	12091241		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	37298666	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	39273179	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30291379		★☆☆☆☆ Found in Text Mining only
Serum Sickness	Serum Sickness	BEFREE	20702729		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	15606620		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	2158365	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32034058	Associate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	17900300		★☆☆☆☆ Found in Text Mining only