C1S (complement C1s)

Gene

• Entrez ID: 716
• Gene name: Complement C1s
• Gene symbol: C1S
• Synonyms (NCBI Gene): EDSPD2
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in thi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909582	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886040974	TGT>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, inframe indel
rs886040975	T>C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018885	hsa-miR-335-5p	Microarray	18185580
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT842575	hsa-miR-3189-5p	CLIP-seq
MIRT842576	hsa-miR-371b-3p	CLIP-seq
MIRT842577	hsa-miR-4758-3p	CLIP-seq
MIRT842578	hsa-miR-1276	CLIP-seq
MIRT842579	hsa-miR-3125	CLIP-seq
MIRT842580	hsa-miR-3916	CLIP-seq
MIRT842581	hsa-miR-4261	CLIP-seq
MIRT842582	hsa-miR-4311	CLIP-seq
MIRT842583	hsa-miR-4496	CLIP-seq
MIRT842584	hsa-miR-583	CLIP-seq
MIRT842585	hsa-miR-618	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT842578	hsa-miR-1276	CLIP-seq
MIRT2491652	hsa-miR-1283	CLIP-seq
MIRT2491653	hsa-miR-1297	CLIP-seq
MIRT2491654	hsa-miR-130a	CLIP-seq
MIRT2491655	hsa-miR-130b	CLIP-seq
MIRT2491656	hsa-miR-186	CLIP-seq
MIRT2491657	hsa-miR-188-5p	CLIP-seq
MIRT2491658	hsa-miR-26a	CLIP-seq
MIRT2491659	hsa-miR-26b	CLIP-seq
MIRT2491660	hsa-miR-301a	CLIP-seq
MIRT2491661	hsa-miR-301b	CLIP-seq
MIRT842579	hsa-miR-3125	CLIP-seq
MIRT842575	hsa-miR-3189-5p	CLIP-seq
MIRT2491662	hsa-miR-3190	CLIP-seq
MIRT2491663	hsa-miR-338-5p	CLIP-seq
MIRT2491664	hsa-miR-339-5p	CLIP-seq
MIRT2491665	hsa-miR-3666	CLIP-seq
MIRT842576	hsa-miR-371b-3p	CLIP-seq
MIRT842580	hsa-miR-3916	CLIP-seq
MIRT2491666	hsa-miR-4255	CLIP-seq
MIRT842581	hsa-miR-4261	CLIP-seq
MIRT2491667	hsa-miR-4295	CLIP-seq
MIRT842582	hsa-miR-4311	CLIP-seq
MIRT2491668	hsa-miR-4465	CLIP-seq
MIRT842583	hsa-miR-4496	CLIP-seq
MIRT2491669	hsa-miR-454	CLIP-seq
MIRT2491670	hsa-miR-4671-3p	CLIP-seq
MIRT2491671	hsa-miR-4694-3p	CLIP-seq
MIRT2491672	hsa-miR-4696	CLIP-seq
MIRT842577	hsa-miR-4758-3p	CLIP-seq
MIRT2491673	hsa-miR-522	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT2491674	hsa-miR-580	CLIP-seq
MIRT842584	hsa-miR-583	CLIP-seq
MIRT842578	hsa-miR-1276	CLIP-seq
MIRT2491652	hsa-miR-1283	CLIP-seq
MIRT2491653	hsa-miR-1297	CLIP-seq
MIRT2491654	hsa-miR-130a	CLIP-seq
MIRT2491655	hsa-miR-130b	CLIP-seq
MIRT2491656	hsa-miR-186	CLIP-seq
MIRT2491657	hsa-miR-188-5p	CLIP-seq
MIRT2491658	hsa-miR-26a	CLIP-seq
MIRT2491659	hsa-miR-26b	CLIP-seq
MIRT2491660	hsa-miR-301a	CLIP-seq
MIRT2491661	hsa-miR-301b	CLIP-seq
MIRT842579	hsa-miR-3125	CLIP-seq
MIRT2676788	hsa-miR-3153	CLIP-seq
MIRT842575	hsa-miR-3189-5p	CLIP-seq
MIRT2491662	hsa-miR-3190	CLIP-seq
MIRT2491663	hsa-miR-338-5p	CLIP-seq
MIRT2491664	hsa-miR-339-5p	CLIP-seq
MIRT2491665	hsa-miR-3666	CLIP-seq
MIRT842576	hsa-miR-371b-3p	CLIP-seq
MIRT842580	hsa-miR-3916	CLIP-seq
MIRT2491666	hsa-miR-4255	CLIP-seq
MIRT842581	hsa-miR-4261	CLIP-seq
MIRT2491667	hsa-miR-4295	CLIP-seq
MIRT842582	hsa-miR-4311	CLIP-seq
MIRT2491668	hsa-miR-4465	CLIP-seq
MIRT842583	hsa-miR-4496	CLIP-seq
MIRT2491669	hsa-miR-454	CLIP-seq
MIRT2491670	hsa-miR-4671-3p	CLIP-seq
MIRT2491671	hsa-miR-4694-3p	CLIP-seq
MIRT2491672	hsa-miR-4696	CLIP-seq
MIRT842577	hsa-miR-4758-3p	CLIP-seq
MIRT2491673	hsa-miR-522	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT2491674	hsa-miR-580	CLIP-seq
MIRT842584	hsa-miR-583	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	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	70787, 417728, 467643, 6282646, 6319179, 6906228, 9422791, 11527969, 16169853, 22949645
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2387866, 12788922, 17996945, 25359215, 25910212, 28514442, 28742139, 31749804, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
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:0006508	Process	Proteolysis	IEA
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, 18204047
GO:0006958	Process	Complement activation, classical pathway	IDA	70787, 417728, 467643, 6249812, 6282646, 6319179, 6906228, 9422791, 16169853, 22949645, 23650384, 34155115
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031638	Process	Zymogen activation	IDA	16169853
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0042802	Function	Identical protein binding	IPI	2387866, 12788922
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047
GO:0051604	Process	Protein maturation	IDA	16169853
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0106139	Component	Symbiont cell surface	IDA	34155115

Other IDs

• MIM: 120580
• HGNC: 1247
• e!Ensembl: ENSG00000182326

Protein

• UniProt ID: P09871
• Protein name: Complement C1s subcomponent (EC 3.4.21.42) (C1 esterase) (Complement component 1 subcomponent s) [Cleaved into: Complement C1s subcomponent heavy chain (Complement C1s subcomponent chain A); Complement C1s subcomponent light chain (Complement C1s subcompo
• Protein function: 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 strengthens the adaptive
• PDB: 1ELV, 1NZI, 4J1Y, 4LMF, 4LOR, 4LOS, 4LOT, 6F1C, 6F1H, 8GMN, 8TYP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00431	CUB	16 → 127	CUB domain	Domain
  PF14670	FXa_inhibition	135 → 171		Domain
  PF00431	CUB	175 → 287	CUB domain	Domain
  PF00084	Sushi	294 → 354	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	359 → 421	Sushi repeat (SCR repeat)	Domain
  PF00089	Trypsin	438 → 675	Trypsin	Domain

• Sequence:

  MWCIVLFSLLAWVYAEPTMYGEILSPNYPQAYPSEVEKSWDIEVPEGYGIHLYFTHLDIE
  LSENCAYDSVQIISGDTEEGRLCGQRSSNNPHSPIVEEFQVPYNKLQVIFKSDFSNEERF
  TGFAAYYVATDINECTDFVDVPCSHFCNNFIGGYFCSCPPEYFLHDDMKNCGVNCSGDVF
  TALIGEIASPNYPKPYPENSRCEYQIRLEKGFQVVVTLRREDFDVEAADSAGNCLDSLVF
  VAGDRQFGPYCGHGFPGPLNIETKSNALDIIFQTDLTGQKKGWKLRYHGDPMPCPKEDTP
  NSVWEPAKAKYVFRDVVQITCLDGFEVVEGRVGATSFYSTCQSNGKWSNSKLKCQPVDCG
  IPESIENGKVEDPESTLFGSVIRYTCEEPYYYMENGGGGEYHCAGNGSWVNEVLGPELPK
  CVPVCGVPREPFEEKQRIIGGSDADIKNFPWQVFFDNPWAGGALINEYWVLTAAHVVEGN
  REPTMYVGSTSVQTSRLAKSKMLTPEHVFIHPGWKLLEVPEGRTNFDNDIALVRLKDPVK
  MGPTVSPICLPGTSSDYNLMDGDLGLISGWGRTEKRDRAVRLKAARLPVAPLRKCKEVKV
  EKPTADAEAYVFTPNMICAGGEKGMDSCKGDSGGAFAVQDPNDKTKFYAAGLVSWGPQCG
  TYGLYTRVKNYVDWIMKTMQENSTPRED

• Sequence length: 688

Pathways

KEGG:

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
C1S-related disorder	Likely pathogenic	rs2539603566	RCV003899409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component C1s deficiency	Likely pathogenic; Pathogenic	rs2539608457, rs781856506, rs1391790248, rs2135727106	RCV002283877 RCV003329456 RCV005008679 RCV000018596	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, periodontal type 1	Pathogenic	rs886040974, rs886040975	RCV000417046 RCV000417062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, periodontal type 2	Pathogenic; Likely pathogenic	rs781856506, rs1391790248, rs886040974, rs886040975, rs2539591419	RCV004784089 RCV005008679 RCV000258063 RCV000258062 RCV003444465	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	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
EHLERS-DANLOS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ 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	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, AUTOIMMUNE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA TYPES I AND II	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1Inh	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL EHLERS-DANLOS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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
Alzheimer Disease	Alzheimer disease	Pubtator	26950848, 40037332	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas Hereditary	Angioedema	Pubtator	2026621, 3965500	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	21225025, 30698087		★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	CTD_human_DG	11390518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	11390518		★★☆☆☆ 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 Squamous Cell	Squamous cell carcinoma	Pubtator	31049937	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	35218958	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component C1s Deficiency	Complement component deficiency	Pubtator	11390518	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement Component C1s Deficiency	Complement Component Deficiency	GENOMICS_ENGLAND_DG	20727163		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement Component C1s Deficiency	Complement component deficiency	Pubtator	37209807	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement Component C1s Deficiency	Complement Component Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement Component C1s Deficiency	Complement Component Deficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	20727163		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	38049831	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	31049937	Associate	★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	Periodontal Ehlers-Danlos Syndrome	UNIPROT_DG	27745832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	Periodontal Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	28306225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	Periodontal Ehlers-Danlos Syndrome	CTD_human_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
Emphysema	Emphysema	Pubtator	33535173	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	11779588	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	31049937	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26742644	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34180136, 39179711	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39179711	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	CTD_human_DG	11390518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto disease	Pubtator	37209807	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	CTD_human_DG	3184114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type II	Angioedema	CTD_human_DG	3184114		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Types I and II	Angioedema	CTD_human_DG	3184114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	30707351, 35964089, 37209807	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GENOMICS_ENGLAND_DG	20727163		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	23989031		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33658651	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	37099020	Associate	★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37406976	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36596079	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	23989031		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20969748	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Ehlers-Danlos syndrome	Periodontal Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	31921203	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33535173	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	39616737	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolic stroke	Thromboembolic stroke	BEFREE	29166502		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	29166502	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	37209807	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	39179711	Associate	★☆☆☆☆ Found in Text Mining only