CD55 (CD55 molecule (Cromer blood group))

Gene

• Entrez ID: 1604
• Gene name: CD55 molecule (Cromer blood group)
• Gene symbol: CD55
• Synonyms (NCBI Gene): CHAPLE, CR, CROM, DAF, TC
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909603	G>A	Affects	Stop gained, non coding transcript variant, coding sequence variant
rs869312818	G>A	Affects	Missense variant, coding sequence variant, non coding transcript variant
rs1114167430	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131690771	C>A	Affects	Stop gained, coding sequence variant, non coding transcript variant
rs1135402914	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1135402915	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1135402916	AA>CCTT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1135402917	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1135402918	G>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021757	hsa-miR-132-3p	Microarray	17612493
MIRT022237	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031474	hsa-miR-16-5p	Proteomics	18668040
MIRT052481	hsa-let-7a-5p	CLASH	23622248
MIRT507832	hsa-miR-548m	HITS-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT507830	hsa-miR-142-5p	HITS-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	HITS-CLIP	21572407
MIRT507829	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT507825	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT704850	hsa-miR-651-3p	HITS-CLIP	23313552
MIRT704849	hsa-miR-532-5p	HITS-CLIP	23313552
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23313552
MIRT704848	hsa-miR-5189-3p	HITS-CLIP	23313552
MIRT704847	hsa-miR-192-3p	HITS-CLIP	23313552
MIRT704846	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT647892	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT647891	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT647890	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647889	hsa-miR-3200-3p	HITS-CLIP	23824327
MIRT647888	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT647887	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT647886	hsa-miR-6884-3p	HITS-CLIP	23824327
MIRT647885	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT647884	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23824327
MIRT647882	hsa-miR-3144-3p	HITS-CLIP	23824327
MIRT647881	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT647880	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT647879	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620368	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT620367	hsa-miR-1248	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620364	hsa-miR-3148	HITS-CLIP	23824327
MIRT620363	hsa-miR-6124	HITS-CLIP	23824327
MIRT620362	hsa-miR-3190-3p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620360	hsa-miR-6833-5p	HITS-CLIP	23824327
MIRT620359	hsa-miR-4752	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT507832	hsa-miR-548m	PAR-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT507830	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT507829	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT507825	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT458875	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT458874	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT458873	hsa-miR-3609	PAR-CLIP	23592263
MIRT458872	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT458871	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT458870	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT458869	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT458868	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT458867	hsa-miR-656-3p	PAR-CLIP	23592263
MIRT458866	hsa-miR-664a-3p	PAR-CLIP	23592263
MIRT458865	hsa-miR-3938	PAR-CLIP	23592263
MIRT458864	hsa-miR-5697	PAR-CLIP	23592263
MIRT458863	hsa-miR-4645-3p	PAR-CLIP	23592263
MIRT458862	hsa-miR-664b-5p	PAR-CLIP	23592263
MIRT458861	hsa-miR-4489	PAR-CLIP	23592263
MIRT458860	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT458859	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT458858	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT458857	hsa-miR-4278	PAR-CLIP	23592263
MIRT458856	hsa-miR-1297	PAR-CLIP	23592263
MIRT458855	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT458854	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT458853	hsa-miR-4465	PAR-CLIP	23592263
MIRT458852	hsa-miR-6516-3p	PAR-CLIP	23592263
MIRT458851	hsa-miR-7977	PAR-CLIP	23592263
MIRT458850	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT733231	hsa-miR-135a-5p	RNA-seq	33674273
MIRT507832	hsa-miR-548m	HITS-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT507830	hsa-miR-142-5p	HITS-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	HITS-CLIP	21572407
MIRT507829	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT507825	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT704850	hsa-miR-651-3p	HITS-CLIP	23313552
MIRT704849	hsa-miR-532-5p	HITS-CLIP	23313552
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23313552
MIRT704848	hsa-miR-5189-3p	HITS-CLIP	23313552
MIRT704847	hsa-miR-192-3p	HITS-CLIP	23313552
MIRT704846	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT647892	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT647891	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT647890	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647889	hsa-miR-3200-3p	HITS-CLIP	23824327
MIRT647888	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT647887	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT647886	hsa-miR-6884-3p	HITS-CLIP	23824327
MIRT647885	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT647884	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23824327
MIRT647882	hsa-miR-3144-3p	HITS-CLIP	23824327
MIRT647881	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT647880	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT647879	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620368	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT620367	hsa-miR-1248	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620364	hsa-miR-3148	HITS-CLIP	23824327
MIRT620363	hsa-miR-6124	HITS-CLIP	23824327
MIRT620362	hsa-miR-3190-3p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620360	hsa-miR-6833-5p	HITS-CLIP	23824327
MIRT620359	hsa-miR-4752	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT507832	hsa-miR-548m	PAR-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT507830	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT507829	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT507825	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT458875	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT458874	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT458873	hsa-miR-3609	PAR-CLIP	23592263
MIRT458872	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT458871	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT458870	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT458869	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT458868	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT458867	hsa-miR-656-3p	PAR-CLIP	23592263
MIRT458866	hsa-miR-664a-3p	PAR-CLIP	23592263
MIRT458865	hsa-miR-3938	PAR-CLIP	23592263
MIRT458864	hsa-miR-5697	PAR-CLIP	23592263
MIRT458863	hsa-miR-4645-3p	PAR-CLIP	23592263
MIRT458862	hsa-miR-664b-5p	PAR-CLIP	23592263
MIRT458861	hsa-miR-4489	PAR-CLIP	23592263
MIRT458860	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT458859	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT458858	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT458857	hsa-miR-4278	PAR-CLIP	23592263
MIRT458856	hsa-miR-1297	PAR-CLIP	23592263
MIRT458855	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT458854	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT458853	hsa-miR-4465	PAR-CLIP	23592263
MIRT458852	hsa-miR-6516-3p	PAR-CLIP	23592263
MIRT458851	hsa-miR-7977	PAR-CLIP	23592263
MIRT458850	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT756409	hsa-miR-27a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36741376
MIRT875821	hsa-miR-1208	CLIP-seq
MIRT875822	hsa-miR-23a	CLIP-seq
MIRT875823	hsa-miR-23b	CLIP-seq
MIRT875824	hsa-miR-23c	CLIP-seq
MIRT875825	hsa-miR-3190	CLIP-seq
MIRT875826	hsa-miR-323-3p	CLIP-seq
MIRT875827	hsa-miR-4420	CLIP-seq
MIRT875828	hsa-miR-4495	CLIP-seq
MIRT875829	hsa-miR-4496	CLIP-seq
MIRT875830	hsa-miR-4666-5p	CLIP-seq
MIRT875831	hsa-miR-4668-3p	CLIP-seq
MIRT875832	hsa-miR-4729	CLIP-seq
MIRT875833	hsa-miR-4778-3p	CLIP-seq
MIRT875834	hsa-miR-578	CLIP-seq
MIRT875835	hsa-miR-581	CLIP-seq
MIRT875836	hsa-miR-651	CLIP-seq
MIRT1959661	hsa-miR-224	CLIP-seq
MIRT1959662	hsa-miR-27a	CLIP-seq
MIRT1959663	hsa-miR-27b	CLIP-seq
MIRT875828	hsa-miR-4495	CLIP-seq
MIRT875830	hsa-miR-4666-5p	CLIP-seq
MIRT1959664	hsa-miR-513a-5p	CLIP-seq
MIRT875834	hsa-miR-578	CLIP-seq
MIRT2196552	hsa-miR-548k	CLIP-seq
MIRT2499734	hsa-miR-33a	CLIP-seq
MIRT2499735	hsa-miR-33b	CLIP-seq
MIRT2499736	hsa-miR-3646	CLIP-seq
MIRT2499737	hsa-miR-4422	CLIP-seq
MIRT2499738	hsa-miR-4709-3p	CLIP-seq
MIRT875832	hsa-miR-4729	CLIP-seq
MIRT2499739	hsa-miR-548u	CLIP-seq
MIRT2499736	hsa-miR-3646	CLIP-seq
MIRT2499737	hsa-miR-4422	CLIP-seq
MIRT2499738	hsa-miR-4709-3p	CLIP-seq
MIRT2499739	hsa-miR-548u	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001618	Function	Virus receptor activity	IDA	7525274
GO:0001618	Function	Virus receptor activity	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002706	Process	Regulation of lymphocyte mediated immunity	IEA
GO:0002726	Process	Positive regulation of T cell cytokine production	IDA	16818763
GO:0002822	Process	Regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	IEA
GO:0005515	Function	Protein binding	IPI	9064337, 11297558
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IDA	6211481
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	8223854
GO:0008289	Function	Lipid binding	IDA	12731067
GO:0009986	Component	Cell surface	IDA	15907827
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0030133	Component	Transport vesicle	TAS
GO:0030449	Process	Regulation of complement activation	IDA	25284781
GO:0030449	Process	Regulation of complement activation	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031664	Process	Regulation of lipopolysaccharide-mediated signaling pathway	IDA	12731067
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IDA	11313396
GO:0045730	Process	Respiratory burst	NAS	8223854
GO:0045916	Process	Negative regulation of complement activation	IDA	6211481
GO:0045916	Process	Negative regulation of complement activation	IMP	28657829
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:0098552	Component	Side of membrane	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IDA	25284781
GO:2000516	Process	Positive regulation of CD4-positive, alpha-beta T cell activation	IDA	16818763
GO:2000563	Process	Positive regulation of CD4-positive, alpha-beta T cell proliferation	IDA	16818763

Other IDs

• MIM: 125240
• HGNC: 2665
• e!Ensembl: ENSG00000196352

Protein

• UniProt ID: P08174
• Protein name: Complement decay-accelerating factor (CD antigen CD55)
• Protein function: This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides i
• PDB: 1H03, 1H04, 1H2P, 1H2Q, 1M11, 1NWV, 1OJV, 1OJW, 1OJY, 1OK1, 1OK2, 1OK3, 1OK9, 1UOT, 1UPN, 2C8I, 2QZD, 2QZF, 2QZH, 3IYP, 3J24, 5FOA, 6ILJ, 6ILK, 6LA5, 7C9W, 7DO4, 7VY5, 7VY6, 8B8R, 8K9R, 8K9T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	36 → 94	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	98 → 158	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	163 → 220	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	225 → 283	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed on the plasma membranes of all cell types that are in intimate contact with plasma complement proteins. It is also found on the surfaces of epithelial cells lining extracellular compartments, and variants of the molecule are
• Sequence:

  MTVARPSVPAALPLLGELPRLLLLVLLCLPAVWGDCGLPPDVPNAQPALEGRTSFPEDTV
  ITYKCEESFVKIPGEKDSVICLKGSQWSDIEEFCNRSCEVPTRLNSASLKQPYITQNYFP
  VGTVVEYECRPGYRREPSLSPKLTCLQNLKWSTAVEFCKKKSCPNPGEIRNGQIDVPGGI
  LFGATISFSCNTGYKLFGSTSSFCLISGSSVQWSDPLPECREIYCPAPPQIDNGIIQGER
  DHYGYRQSVTYACNKGFTMIGEHSIYCTVNNDEGEWSGPPPECRGKSLTSKVPPTVQKPT
  TVNVPTTEVSPTSQKTTTKTTTPNAQATRSTPVSRTTKHFHETTPNKGSGTTSGTTRLLS
  GHTCFTLTGLLGTLVTMGLLT

• Sequence length: 381

Pathways

KEGG:

Complement and coagulation cascades
Hematopoietic cell lineage
Viral myocarditis

Reactome:

Class B/2 (Secretin family receptors)
Neutrophil degranulation
COPI-mediated anterograde transport
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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CD55-related disorder	Likely pathogenic	rs376304458, rs1458492476, rs2526922942	RCV003418346 RCV003404348 RCV003397538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	Likely pathogenic; Pathogenic	rs752360687, rs773074921, rs1114167430, rs1135402914, rs1135402915, rs1135402916, rs1135402917, rs1135402918	RCV002499775 RCV003989924 RCV004577333 RCV004999542 RCV004577334 RCV004577335 RCV004577336 RCV004577337	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cromer blood group system	Likely pathogenic; Pathogenic	rs752360687, rs121909603	RCV002499775 RCV000018367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE	Pathogenic	rs1135402914	RCV000497258	★★★★☆ 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
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ 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	9238050		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28008159		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	26202380		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	7745323		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	20688727, 22024702		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31216356	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	31216356		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28119052, 30365103, 30905309		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31417272		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	22761633	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27667587, 28957817		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	30429373	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	16179371	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	22405566, 9238050	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	27667587	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	8885138		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	BEFREE	28963754		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27667587		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	16179371, 18596225, 19656154		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	16179371		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20131275		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	28793332	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	23006144	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10211878, 15693006, 22590509, 27424032, 33992645	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	9472668	Inhibit	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	8982108		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	2474572, 31043156	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31780074		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	9616315	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12213736, 22961402, 29503741, 31103439		★☆☆☆☆ 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
Barrett Esophagus	Barrett esophagus	BEFREE	26202380		★☆☆☆☆ Found in Text Mining only
Berylliosis	Berylliosis	Pubtator	34399367	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	19656154	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16367924, 24073403, 25241923, 28928834		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15378282, 16367924, 22791584, 24073403	Associate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	BEFREE	22961402		★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	30473747		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16130195, 16273233		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10931136	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27080225, 28008159		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	8686736	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	7690355	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16585216, 21725665		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	2474572	Associate	★☆☆☆☆ Found in Text Mining only
CD59 Deficiency	CD59 Deficiency	BEFREE	18158579, 31421540		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28944962, 30519000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28944962, 30519000		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28345461	Associate	★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	9207362		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28957817		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10680700, 23850806		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	LHGDN	15007307		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32190668, 9649185	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	9737666	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	1384641, 24763553, 8640847, 8801206	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15007307		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	30771337		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15520008, 23692281, 24239863, 29039580, 31578581		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11139317, 24978917	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11862418, 12811528, 1384641, 16525993, 36571232, 36741376, 7532345	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12811528		★☆☆☆☆ Found in Text Mining only
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	19154662	Inhibit	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	28657829		★☆☆☆☆ Found in Text Mining only
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY	Protein-losing enteropathy	BEFREE	28657829, 31421540		★☆☆☆☆ Found in Text Mining only
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY	Protein-losing enteropathy	UNIPROT_DG	28657829, 28657861		★☆☆☆☆ Found in Text Mining only
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY	Protein-losing enteropathy	CLINVAR_DG	28657861		★☆☆☆☆ Found in Text Mining only
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coronary Artery Disease	Coronary artery disease	Pubtator	31555286	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33349347	Associate	★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	1720702	Inhibit	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	16965581	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31454521		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12629650, 28886871		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12629650, 28886871		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30988245	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31454521		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29631630		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16585216		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38244291	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26202380		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	22547928	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	9616315	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31417272		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30225541	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	30356754, 9648070	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	1279944	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	12186694	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	10220445, 10934342, 12116342, 15203716, 16493662, 16867159, 1688570, 1688724, 1689598, 1698101, 1702101, 18376800, 19001281, 22696589, 24086391, 2413153, 24463881, 2478585, 26637747, 30262533, 3309123, 3416071, 38335997, 7579441, 7678064, 8615796, 9054654, 9516159	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	12186694, 19154662, 2581636, 28718265	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria, Paroxysmal	Paroxysmal Hemoglobinuria	LHGDN	18158579		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	2474572	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	27357152	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	28963754		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	29523076		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	GENOMICS_ENGLAND_DG	28657829		★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypercatabolic Hypoproteinemia	Idiopathic Hypercatabolic Hypoproteinemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24958208		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24958208	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29635535		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31103439		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	9616315	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	35851954, 9616315, 9649185	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28345461		★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	29486674, 8843541		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	28963754		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	28940198, 9648070	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	34043214	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	12791098	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	7681703, 8611704	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12186694	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	7681703	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10680700		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28008159, 7690355, 9717965	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22761633	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28345461	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16367924		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16367924	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22718493	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22718493		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19662541		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	19662541		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16367924, 24073403, 25241923, 28928834		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29631630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27080225, 28008159		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21725665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25457880		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11069077, 11207899, 15971270, 23692281, 28944962, 29503741, 31578581		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28944962, 30519000		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28140725, 30418410		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16367924, 18676748		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	2450893	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	24612434		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23508668		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27307294, 36359760	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33992645	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	19675582		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12393738, 18158579, 19656154		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10680700, 15907827		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	22987701		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	39695702	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10769630, 16130195, 16367924, 17671212, 22916022, 23692281, 27080225, 28549065, 29039580, 29704239, 30519000, 31417272, 31611744		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	30851734		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	22761633	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28008159, 29895866		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18775662, 25054223	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21725665		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16640659, 30622051	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17012836	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31208386, 31354022		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	14972783, 15160958, 1688570, 18158579, 19656154, 22305531, 23402025, 24969051, 25688459, 28629435, 29355143, 29486674, 30262533, 30504334, 31421540, 6225118, 7524616, 8652849, 8843541, 8885138, 9238050		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35551681	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	31421540		★☆☆☆☆ Found in Text Mining only
Primary intestinal lymphangiectasia	Intestinal lymphatic obstruction	GENOMICS_ENGLAND_DG	28657829		★☆☆☆☆ Found in Text Mining only
Primary intestinal lymphangiectasia	Intestinal lymphatic obstruction	BEFREE	30565236		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	31411525		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16533428		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36806315	Associate	★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	28657829, 29503741, 30418410, 30565236		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	GENOMICS_ENGLAND_DG	28657829		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	19656154		★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	27667587		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	19681921		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	22973031	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	11212152	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20131275, 28506571, 31831038		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	34399367	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	22590509	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31611744		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25457880		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11706063, 12032231, 16130195, 35851954	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	23042280	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11023512, 28657829	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	23635876		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	7518800	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	15007304		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18561323, 33721374	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	11950905, 19878546, 30519000	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	20221634	Stimulate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	2309700	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	28940198	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10361249	Associate	★☆☆☆☆ Found in Text Mining only