C1R (complement C1r)

Gene

• Entrez ID: 715
• Gene name: Complement C1r
• Gene symbol: C1R
• Synonyms (NCBI Gene): EDS8, EDSPD1
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs760277934	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs769707492	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs1057515579	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518643	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518645	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518646	GCACTTGATGA>TGTCC	Likely-pathogenic, pathogenic	Inframe indel, coding sequence variant
rs1057519025	GA>AT	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519026	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519576	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519577	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519578	C>G,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs1057519579	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519580	GTAGTACTGGATACGG>TATTACATGA	Likely-pathogenic, pathogenic	Inframe indel, coding sequence variant
rs1060499554	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555164437	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT842504	hsa-miR-129-5p	CLIP-seq
MIRT842505	hsa-miR-140-5p	CLIP-seq
MIRT842506	hsa-miR-3545-5p	CLIP-seq
MIRT842507	hsa-miR-3692	CLIP-seq
MIRT842508	hsa-miR-3976	CLIP-seq
MIRT842509	hsa-miR-4460	CLIP-seq
MIRT842510	hsa-miR-4727-3p	CLIP-seq
MIRT842511	hsa-miR-633	CLIP-seq
MIRT842504	hsa-miR-129-5p	CLIP-seq
MIRT842507	hsa-miR-3692	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	EXP	11823416
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	6254570, 6271784, 11445589, 11673533, 17996945, 20178990
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	2834284
GO:0005509	Function	Calcium ion binding	IDA	20178990
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2387866, 12788922, 17996945, 28514442, 28742139, 31749804, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005602	Component	Complement component C1 complex	IDA	2988513, 6249812, 6952210, 23650384, 34155115
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	20178990
GO:0005615	Component	Extracellular space	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006955	Process	Immune response	TAS	737019
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IEA
GO:0006958	Process	Complement activation, classical pathway	IDA	3897448, 6906228, 9422791, 11673533, 16169853, 18204047
GO:0006958	Process	Complement activation, classical pathway	IDA	6249812, 6254570, 6271784, 11673533, 17996945, 20178990, 23650384, 34155115
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	TAS
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	2834284
GO:0009986	Component	Cell surface	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031638	Process	Zymogen activation	IBA
GO:0031638	Process	Zymogen activation	IDA	11673533, 16169853
GO:0031638	Process	Zymogen activation	IDA	6271784, 11673533, 20178990
GO:0031638	Process	Zymogen activation	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0042802	Function	Identical protein binding	IPI	20970424, 31749804
GO:0045087	Process	Innate immune response	IEA
GO:0051604	Process	Protein maturation	IDA	6906228, 16169853, 18204047
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072562	Component	Blood microparticle	IBA
GO:0106139	Component	Symbiont cell surface	IDA	34155115
GO:0140313	Function	Molecular sequestering activity	EXP	20178990

Other IDs

• MIM: 613785
• HGNC: 1246
• e!Ensembl: ENSG00000159403

Protein

• UniProt ID: P00736
• Protein name: Complement C1r subcomponent (EC 3.4.21.41) (Complement component 1 subcomponent r) [Cleaved into: Complement C1r subcomponent heavy chain (Complement C1r subcomponent chain A); Complement C1r subcomponent light chain (Complement C1r subcomponent chain B)]
• Protein function: Serine protease component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strength
• PDB: 1APQ, 1GPZ, 1MD7, 1MD8, 2QY0, 6F1C, 6F1D, 6F1H, 6F39, 9EKD, 9EKE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00431	CUB	20 → 131	CUB domain	Domain
  PF14670	FXa_inhibition	154 → 189		Domain
  PF00431	CUB	193 → 302	CUB domain	Domain
  PF00084	Sushi	309 → 371	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	376 → 447	Sushi repeat (SCR repeat)	Domain
  PF00089	Trypsin	464 → 697	Trypsin	Domain

• Sequence:

  MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVF
  QQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDF
  SNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGY
  ELQEDTHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPF
  DIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKL
  RYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQD
  DGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSR
  ESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVF
  TNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRV
  SVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVME
  EKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAV
  RDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED

• Sequence length: 705

Pathways

KEGG:

Phagosome
Complement and coagulation cascades
Pertussis
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus

Reactome:

Initial triggering of complement
Classical antibody-mediated complement activation
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
Ehlers-Danlos syndrome	Likely pathogenic	rs1938242419	RCV001248812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, periodontal type 1	Likely pathogenic; Pathogenic	rs1057518645, rs760277934, rs769707492, rs1057515579, rs1057518646, rs1057518643, rs1057519025, rs1057519580, rs1057519579, rs1057519578, rs1057519577, rs1057519576, rs1060499554, rs1938056582	RCV003154094 RCV000258068 RCV000258069 RCV000258072 RCV000258067 RCV000258071 RCV000258064 RCV000412647 RCV000417044 RCV000417063 RCV000417050 RCV000417066 RCV000417060 RCV000417057 RCV001250191	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, periodontal type 2	Pathogenic	rs1057518645, rs760277934, rs769707492, rs1057515579, rs1057518646, rs1057518643, rs1057519025, rs1057519580, rs1057519579, rs1057519578, rs1057519577, rs1057519576, rs1060499554	RCV000755118 RCV000755113 RCV000755116 RCV000755112 RCV000755115 RCV000755110 RCV000755109 RCV000755121 RCV000755120 RCV000755119 RCV000755117 RCV000755114 RCV000755122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS TYPE 16	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1R-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, TYPE VIII	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL EHLERS-DANLOS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 16	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37307028, 40037332	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	30535813	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36341343	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	39616737	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	27613243	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34813686	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31049937	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	34912031	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	30535813	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30535813	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25820997		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	28544690		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	22739343		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29257293		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	31049937	Associate	★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	22739343, 30025171		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1	Periodontal Ehlers-Danlos Syndrome	UNIPROT_DG	27745832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1	Periodontal Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	28306225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1	Periodontal Ehlers-Danlos Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	Periodontal Ehlers-Danlos Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type VIII	Ehlers-Danlos Syndrome	ORPHANET_DG	27745832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type VIII	Ehlers-Danlos Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	31049937	Associate	★☆☆☆☆ Found in Text Mining only
Gingival Recession	Gingival Recession	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33009892, 35726234	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33009892	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal Perforation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	737019		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28544690, 32576231	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21784777		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GENOMICS_ENGLAND_DG	28544690		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33658651	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36596079	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29257293, 34208590	Associate	★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	CTD_human_DG	22633222		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30266682		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	22739343		★☆☆☆☆ Found in Text Mining only
Periodontal Ehlers-Danlos syndrome	Periodontal Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	22739343		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31921203	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	1789281		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31509012		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	39616737	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	39684939	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30535813	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	30502339		★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	21594996		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26552850	Stimulate	★☆☆☆☆ Found in Text Mining only