C5 (complement C5)

Gene

• Entrez ID: 727
• Gene name: Complement C5
• Gene symbol: C5
• Synonyms (NCBI Gene): C5D, C5a, C5b, CPAMD4, ECLZB
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to genera

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56040400	C>T	Affects	Genic downstream transcript variant, missense variant, coding sequence variant
rs121909587	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs121909588	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs373359894	G>A,T	Affects	Missense variant, genic downstream transcript variant, coding sequence variant
rs587776846	T>C	Pathogenic	Missense variant, coding sequence variant
rs1554718962	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016535	hsa-miR-193b-3p	Microarray	20304954
MIRT047564	hsa-miR-10a-5p	CLASH	23622248
MIRT848563	hsa-miR-1289	CLIP-seq
MIRT848564	hsa-miR-130a	CLIP-seq
MIRT848565	hsa-miR-130b	CLIP-seq
MIRT848566	hsa-miR-19a	CLIP-seq
MIRT848567	hsa-miR-19b	CLIP-seq
MIRT848568	hsa-miR-301a	CLIP-seq
MIRT848569	hsa-miR-301b	CLIP-seq
MIRT848570	hsa-miR-302a	CLIP-seq
MIRT848571	hsa-miR-302b	CLIP-seq
MIRT848572	hsa-miR-302c	CLIP-seq
MIRT848573	hsa-miR-302d	CLIP-seq
MIRT848574	hsa-miR-302e	CLIP-seq
MIRT848575	hsa-miR-3666	CLIP-seq
MIRT848576	hsa-miR-372	CLIP-seq
MIRT848577	hsa-miR-373	CLIP-seq
MIRT848578	hsa-miR-4295	CLIP-seq
MIRT848579	hsa-miR-4433	CLIP-seq
MIRT848580	hsa-miR-454	CLIP-seq
MIRT848581	hsa-miR-519a	CLIP-seq
MIRT848582	hsa-miR-519b-3p	CLIP-seq
MIRT848583	hsa-miR-519c-3p	CLIP-seq
MIRT848584	hsa-miR-520a-3p	CLIP-seq
MIRT848585	hsa-miR-520b	CLIP-seq
MIRT848586	hsa-miR-520c-3p	CLIP-seq
MIRT848587	hsa-miR-520d-3p	CLIP-seq
MIRT848588	hsa-miR-520e	CLIP-seq
MIRT848589	hsa-miR-548g	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001867	Process	Complement activation, lectin pathway	IDA	12878586
GO:0002376	Process	Immune system process	IEA
GO:0002682	Process	Regulation of immune system process	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9590258, 10820279
GO:0005515	Function	Protein binding	IPI	19528535, 21217642, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005579	Component	Membrane attack complex	IDA	22832194, 26841837, 27052168, 30552328, 30643019, 31061395, 32569291, 36797260
GO:0005579	Component	Membrane attack complex	IEA
GO:0005615	Component	Extracellular space	IDA	37852260
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	9218605
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	TAS	10820279
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	8759757
GO:0006956	Process	Complement activation	IDA	26841837, 27052168, 32569291, 37852260
GO:0006956	Process	Complement activation	IEA
GO:0006957	Process	Complement activation, alternative pathway	IDA	30643019
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IDA	12878586
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	10820279
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8898085
GO:0008009	Function	Chemokine activity	IDA	342601, 5765461, 36806352, 37169960, 37852260
GO:0008009	Function	Chemokine activity	TAS	10820279
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IDA	14566334, 16452172
GO:0010760	Process	Negative regulation of macrophage chemotaxis	IDA	14566334
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0030595	Process	Leukocyte chemotaxis	IDA	342601, 5765461
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0032722	Process	Positive regulation of chemokine production	IDA	14566334
GO:0044218	Component	Other organism cell membrane	IDA	27052168, 30643019, 32569291
GO:0044218	Component	Other organism cell membrane	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0048018	Function	Receptor ligand activity	IDA	37852260
GO:0050920	Process	Regulation of chemotaxis	IEA
GO:0060326	Process	Cell chemotaxis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:1902495	Component	Transmembrane transporter complex	IDA	30552328

Other IDs

• MIM: 120900
• HGNC: 1331
• e!Ensembl: ENSG00000106804

Protein

• UniProt ID: P01031
• Protein name: Complement C5 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4) [Cleaved into: Complement C5 beta chain; Complement C5 alpha chain; C5a anaphylatoxin; Complement C5b (Complement C5 alpha' chain)]
• Protein function: Precursor of the C5a anaphylatoxin and complement C5b components of the complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (
• PDB: 1CFA, 1KJS, 1XWE, 3CU7, 3HQA, 3HQB, 3KLS, 3KM9, 3PRX, 3PVM, 4A5W, 4E0S, 4P39, 4UU9, 5B4P, 5B71, 5HCC, 5HCD, 5HCE, 5I5K, 6H03, 6H04, 6RPT, 6RQJ, 7AD6, 7AD7, 7NYC, 7NYD, 7Y64, 8B0F, 8B0G, 8B0H, 8HK5, 8HQC, 8IA2, 8JZZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17790	MG1	20 → 120	Macroglobulin domain MG1	Domain
  PF01835	MG2	125 → 219	MG2 domain	Domain
  PF17791	MG3	221 → 309	Macroglobulin domain MG3	Domain
  PF17789	MG4	354 → 457	Macroglobulin domain MG4	Domain
  PF07703	A2M_BRD	467 → 612	Alpha-2-macroglobulin bait region domain	Domain
  PF01821	ANATO	698 → 732	Anaphylotoxin-like domain	Domain
  PF00207	A2M	772 → 859	Alpha-2-macroglobulin family	Family
  PF07678	TED_complement	977 → 1300	A-macroglobulin TED domain	Domain
  PF07677	A2M_recep	1419 → 1509	A-macroglobulin receptor binding domain	Domain
  PF01759	NTR	1550 → 1660	UNC-6/NTR/C345C module	Domain

• Sequence:

  MGLLGILCFLIFLGKTWGQEQTYVISAPKIFRVGASENIVIQVYGYTEAFDATISIKSYP
  DKKFSYSSGHVHLSSENKFQNSAILTIQPKQLPGGQNPVSYVYLEVVSKHFSKSKRMPIT
  YDNGFLFIHTDKPVYTPDQSVKVRVYSLNDDLKPAKRETVLTFIDPEGSEVDMVEEIDHI
  GIISFPDFKIPSNPRYGMWTIKAKYKEDFSTTGTAYFEVKEYVLPHFSVSIEPEYNFIGY
  KNFKNFEITIKARYFYNKVVTEADVYITFGIREDLKDDQKEMMQTAMQNTMLINGIAQVT
  FDSETAVKELSYYSLEDLNNKYLYIAVTVIESTGGFSEEAEIPGIKYVLSPYKLNLVATP
  LFLKPGIPYPIKVQVKDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASF
  VLNLPSGVTVLEFNVKTDAPDLPEENQAREGYRAIAYSSLSQSYLYIDWTDNHKALLVGE
  HLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQSINIPVTQNMVPSSRL
  LVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWV
  ALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANAD
  DSQENDEPCKEILRPRRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISL
  GPRCIKAFTECCVVASQLRANISHKDMQLGRLHMKTLLPVSKPEIRSYFPESWLWEVHLV
  PRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFLEMNIPYSVVRGEQIQ
  LKGTVYNYRTSGMQFCVKMSAVEGICTSESPVIDHQGTKSSKCVRQKVEGSSSHLVTFTV
  LPLEIGLHNINFSLETWFGKEILVKTLRVVPEGVKRESYSGVTLDPRGIYGTISRRKEFP
  YRIPLDLVPKTEIKRILSVKGLLVGEILSAVLSQEGINILTHLPKGSAEAELMSVVPVFY
  VFHYLETGNHWNIFHSDPLIEKQKLKKKLKEGMLSIMSYRNADYSYSVWKGGSASTWLTA
  FALRVLGQVNKYVEQNQNSICNSLLWLVENYQLDNGSFKENSQYQPIKLQGTLPVEAREN
  SLYLTAFTVIGIRKAFDICPLVKIDTALIKADNFLLENTLPAQSTFTLAISAYALSLGDK
  THPQFRSIVSALKREALVKGNPPIYRFWKDNLQHKDSSVPNTGTARMVETTAYALLTSLN
  LKDINYVNPVIKWLSEEQRYGGGFYSTQDTINAIEGLTEYSLLVKQLRLSMDIDVSYKHK
  GALHNYKMTDKNFLGRPVEVLLNDDLIVSTGFGSGLATVHVTTVVHKTSTSEEVCSFYLK
  IDTQDIEASHYRGYGNSDYKRIVACASYKPSREESSSGSSHAVMDISLPTGISANEEDLK
  ALVEGVDQLFTDYQIKDGHVILQLNSIPSSDFLCVRFRIFELFEVGFLSPATFTVYEYHR
  PDKQCTMFYSTSNIKIQKVCEGAACKCVEADCGQMQEELDLTISAETRKQTACKPEIAYA
  YKVSITSITVENVFVKYKATLLDIYKTGEAVAEKDSEITFIKKVTCTNAELVKGRQYLIM
  GKEALQIKYNFSFRYIYPLDSLTWIEYWPRDTTCSSCQAFLANLDEFAEDIFLNGC

• Sequence length: 1676

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
C5-related disorder	Pathogenic	rs121909587	RCV004751216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component 5 deficiency	Likely pathogenic; Pathogenic	rs191466386, rs1408798589, rs750416999, rs121909587, rs121909588, rs387906554, rs587776846, rs1554718962	RCV002492315 RCV002492116 RCV002497971 RCV001535994 RCV000018579 RCV000018580 RCV000018581 RCV000601577	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eculizumab, poor response to	Likely pathogenic; Pathogenic	rs191466386, rs1408798589, rs750416999, rs121909587, rs121909588	RCV002492315 RCV002492116 RCV002497971 RCV001535994 RCV002504806	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lathosterolosis	Pathogenic	rs121909587	RCV004018641	★★★★☆ 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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD PAROXYSMAL HEMOGLOBINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINURIA, PAROXYSMAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERITONITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL COMPONENT DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	26896155		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	20022638		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	16889830		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	7730648		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12461081, 19843088, 31076525, 932197		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25725109	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18759306, 25566937, 25725109	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	28167912		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10973279, 11160252, 15278436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	35205259	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	32327104	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	24652797	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	24671321, 28502324, 29419916, 29582550, 30402748, 30767127		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29274201		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29241626, 30655847		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	26269006	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	16823297		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25230890, 26494574, 28228558		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29914696		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	16823297		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	19763906		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23662819	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21102504		★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement Component Deficiency	BEFREE	144462		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 5 deficiency	Complement Component Deficiency	GENOMICS_ENGLAND_DG	25534848		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 5 deficiency	Complement component deficiency	Pubtator	25534848	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 5 deficiency	Complement Component Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 5 deficiency	Complement Component Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	25534848		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30959395		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	144462		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36080270	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26934706	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26934706		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	38069385	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29294056		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	26989329	Associate	★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	20022638		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17482181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	38282487	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	23420882		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	29154963		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	28225753, 29478824		★☆☆☆☆ Found in Text Mining only
Generalized seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30568037		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	30613065		★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	35490715	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10506508		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29213128		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	144462		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	19230171		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	28295247		★☆☆☆☆ Found in Text Mining only
Immune Complex Diseases	Immune Complex Diseases	BEFREE	10395696		★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to a late component of complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	7730648		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31102496		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	30136682		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27768391		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	18576341		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25305519		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29294056		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26475622, 7541417		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	GENOMICS_ENGLAND_DG	1999552		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31102496, 777027		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29885865		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20022638	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28670268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25230890, 26494574, 28228558		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30655847		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31298935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	29454970		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19619703	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	30573759		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20875134, 29990379		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30959395		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23028051, 27105526, 28228558, 28932632, 29118090		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	23420882		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10549816		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29990379, 30953275		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	27105526		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35406699	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33216044	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	30767127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	19909405		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	19909405	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	28296762		★☆☆☆☆ Found in Text Mining only
Primary Peritonitis	Peritonitis	CTD_human_DG	19284563, 19346296		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	26934706		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	17389734, 28903945		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	19902201		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17880261, 19116907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18759306, 20030635, 22196377, 23321589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	29454970		★☆☆☆☆ Found in Text Mining only
Secondary Peritonitis	Peritonitis	CTD_human_DG	19284563, 19346296		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11160252, 25726869, 28720697, 28952876, 29914696		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31447855		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31811640		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	21422921, 28980670		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28400446		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	38282487	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30136682		★☆☆☆☆ Found in Text Mining only