CFI (complement factor I)

Gene

• Entrez ID: 3426
• Gene name: Complement factor I
• Gene symbol: CFI
• Synonyms (NCBI Gene): AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This hete

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112534524	C>G,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs121964912	T>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121964913	G>A,T	Risk-factor	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs121964914	T>A,C	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant, intron variant
rs121964915	C>A,T	Risk-factor	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, downstream transcript variant, non coding transcript variant, intron variant
rs121964916	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964917	G>A	Risk-factor	Missense variant, coding sequence variant, non coding transcript variant
rs121964918	C>T	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant, intron variant
rs141853578	C>T	Uncertain-significance, risk-factor	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs200419722	C>T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs368615806	G>A	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs371432629	C>T	Risk-factor	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs752671716	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs758049059	->AT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs772044176	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs886043418	AT>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1292929833	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553915717	G>C	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs1579173999	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018438	hsa-miR-335-5p	Microarray	18185580
MIRT025158	hsa-miR-181a-5p	Microarray	17612493
MIRT029753	hsa-miR-26b-5p	Microarray	19088304

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	10630630
RELA	Activation	10630630

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	2956252, 8604219
GO:0005515	Function	Protein binding	IPI	16237761
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0006508	Process	Proteolysis	IEA
GO:0006956	Process	Complement activation	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 217030
• HGNC: 5394
• e!Ensembl: ENSG00000205403

Protein

• UniProt ID: P05156
• Protein name: Complement factor I (EC 3.4.21.45) (C3B/C4B inactivator) [Cleaved into: Complement factor I heavy chain; Complement factor I light chain]
• Protein function: Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chai
• PDB: 2XRC, 5O32
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00530	SRCR	117 → 215	Scavenger receptor cysteine-rich domain	Domain
  PF00057	Ldl_recept_a	223 → 256	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	257 → 293	Low-density lipoprotein receptor domain class A	Repeat
  PF00089	Trypsin	340 → 569	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the liver by hepatocytes (PubMed:6327681). Also present in other cells such as monocytes, fibroblasts or keratinocytes (PubMed:17320177, PubMed:6444659). {ECO:0000269|PubMed:17320177, ECO:0000269|PubMed:6327681, ECO:000026
• Sequence:

  MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCV
  CKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGN
  TDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTE
  CLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKA
  CDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVT
  QEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDA
  SGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHEN
  YNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNER
  VFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYV
  WGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV

• Sequence length: 583

Pathways

KEGG:

Complement and coagulation cascades
Staphylococcus aureus infection

Reactome:

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
Age related macular degeneration 13	Likely pathogenic; Pathogenic	rs368555424, rs2126178088, rs2126214430, rs1425827135, rs199688124, rs757053954, rs758049059, rs886043418, rs121964913, rs752671716, rs368615806	RCV002504628 RCV001535876 RCV001535832 RCV005023273 RCV002507693 RCV005025900 RCV002500970 RCV002494859 RCV005859458 RCV002490923 RCV002507347	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs368555424, rs2545375332, rs886043418, rs1303038263, rs1381469349, rs759676430	RCV002294457 RCV005864639 RCV002294216 RCV005864676 RCV005864677 RCV001328246	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical hemolytic-uremic syndrome with I factor anomaly	Likely pathogenic; Pathogenic	rs368555424, rs2126178088, rs2126214430, rs1425827135, rs199688124, rs757053954, rs758049059, rs886043418, rs121964913, rs121964914, rs121964915, rs2545377389, rs2545457659, rs2545358074, rs750850949, rs752671716, rs368615806, rs1579173999	RCV002504628 RCV001535876 RCV001535832 RCV005023273 RCV002507693 RCV005025900 RCV002500970 RCV002494859 RCV000012904 RCV000012905 RCV000012906 RCV003324612 RCV003984926 RCV004555431 RCV004556940 RCV002490923 RCV000778715 RCV001029951	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CFI-related disorder	Likely pathogenic; Pathogenic	rs1723935867, rs368555424, rs1352826089, rs760688154, rs199688124, rs752767269, rs1445308792, rs1339444612, rs1478645822, rs758049059, rs886043418, rs121964913, rs121964914, rs121964915, rs1560546604, rs2545439344, rs752671716, rs368615806, rs759676430	RCV004528560 RCV005864563 RCV005864569 RCV005864570 RCV004542199 RCV005864608 RCV002291528 RCV005864658 RCV005864662 RCV004535248 RCV005864468 RCV004532327 RCV005864436 RCV005864437 RCV005864672 RCV005864679 RCV005864516 RCV005250109 RCV005250174	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs199688124	RCV005924358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor I deficiency	Likely pathogenic; Pathogenic	rs368555424, rs2126178088, rs2126214430, rs1425827135, rs199688124, rs2126224371, rs752767269, rs769721080, rs757053954, rs758049059, rs886043418, rs121964916, rs1360382612, rs752671716, rs368615806	RCV002504628 RCV001535876 RCV001535832 RCV005023273 RCV002074443 RCV005057831 RCV002279774 RCV005864634 RCV005025900 RCV002500970 RCV002494859 RCV000012907 RCV003388469 RCV002490923 RCV002507347	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Afibrinogenemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH COMPLEMENT GENE ABNORMALITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 glomerulonephritis	Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT FACTOR I DEFICIENCY	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement-mediated glomerular disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DE NOVO THROMBOTIC MICROANGIOPATHY FOLLOWING TRANSPLANT OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOYNE HONEYCOMB RETINAL DYSTROPHY	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 13	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration, age-related, 13, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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 esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 4A (Zellweger)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombotic microangiopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; 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
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29378962		★☆☆☆☆ Found in Text Mining only
Afibrinogenemia	Afibrinogenemia	BEFREE	25988862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Age related macular degeneration	Age-related macular degeneration	LHGDN	18685559		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19661236, 20385819, 21139980, 21906714, 22133792, 22694956, 23685748, 24036952, 25352734, 25788521, 25986072, 26312598, 26501415, 26742632, 26765636, 26767664, 27918759, 28173125, 28282489, 29087762, 29392637, 29782502, 31614353		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	23685748, 24036952, 26691988		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	25188723	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	31671693	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28809398, 31498818		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28809398, 31498818		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	28484274	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30366082	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	15917334, 19877009, 20016463, 21445332, 21906045, 22622361, 27268256, 28455885, 29888403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19459807, 20016463, 20118898, 20595690, 21103695, 22410797, 22622361, 29500241, 29888403, 30377230, 34643860, 35069568, 35619721, 36755127, 37363824, 37466676, 37611541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic uremic syndrome with complement gene abnormality	Hemolytic Uremic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27091480		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	35619721	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	22952051		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25618258		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25618258	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	7094424		★☆☆☆☆ Found in Text Mining only
C3 Glomerulonephritis	C3 Glomerulonephritis	BEFREE	29940891		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
C3 glomerulopathy	C3 Glomerulopathy	GENOMICS_ENGLAND_DG	27458560		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29434041		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26900322	Associate	★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	22678500	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22826509	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	24142231		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	BEFREE	27091480		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	35619721, 37615951	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	UNIPROT_DG	12562389, 17018561, 8613545		★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	GENOMICS_ENGLAND_DG	24142231		★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	BEFREE	25988862, 28942469		★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	CLINVAR_DG	25988862		★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Complement Factor I Deficiency	Complement component deficiency	Pubtator	20016463, 21316765, 35531992, 36577522, 37611541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1718974, 30048483		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	ORPHANET_DG	25986072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Drusen, Radial, Autosomal Dominant	Drusen	ORPHANET_DG	25986072		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	25352734	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36807337	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17482181		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	37611541	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26742644	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	10630630		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	24732209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Familial drusen	Drusen	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	GENOMICS_ENGLAND_DG	24142231		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	26247461, 29801123		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	28637589, 30356754	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	18685559, 30366082, 32510551, 36067162	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29087762		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	LHGDN	18658028		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	ORPHANET_DG	18658028, 22594569		★☆☆☆☆ Found in Text Mining only
HELLP syndrome	HELLP Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	22594569		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19459807, 20118898, 22834933, 24005975, 25188723, 34330731, 34997957, 35241161, 37478687	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	15917334, 17597211, 22903728		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	16386793, 17599974, 18805611		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunodeficiency with factor I anomaly	Complement Component Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29761347		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35241161	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20016463, 37615951	Associate	★☆☆☆☆ Found in Text Mining only
Leukocytoclastic vasculitis	Leukocytoclastic Vasculitis	BEFREE	25988862		★☆☆☆☆ Found in Text Mining only
Leukocytoclastic vasculitis	Leukocytoclastic Vasculitis	CLINVAR_DG	25988862		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	31303643		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	6327681		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	6327681		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17548110		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29492211		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	19661236, 20385819, 22694956, 24036952, 25352734, 26765636, 26767664, 29410599, 31583032, 31795454, 32516404, 32717343, 32908800, 34153144, 35069568, 35285476, 35526386, 35526389, 35531992, 36067162, 36643920, 37478687, 37934784	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 13	Age-related macular degeneration	UNIPROT_DG	23685748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 13	Age-related macular degeneration	GENOMICS_ENGLAND_DG	24142231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 13	Age-related macular degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malattia Leventinese	Malattia Leventinese	ORPHANET_DG	25986072		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	28759042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25618258		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29434041, 31358662		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28270606		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	38218802	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	22678500		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1718974, 25043604, 27902970, 28270606		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	36070894	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	31303643		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25394898		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18775662, 37006267	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	38218802	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	28673451	Stimulate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	22952051	Stimulate	★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	29940891	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	30142373	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34349764	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17067565		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	18557729, 29940891		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29378962		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40283026	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	25075123, 26900322		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	26900322	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	26900322		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	26900322	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	29696024		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	36941072	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	29696024, 35747245	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis of the skin	Vasculitis	BEFREE	29696024		★☆☆☆☆ Found in Text Mining only
Vasculitis, Leukocytoclastic, Cutaneous	Vasculitis	BEFREE	25988862		★☆☆☆☆ Found in Text Mining only
Vasculitis, Leukocytoclastic, Cutaneous	Vasculitis	CLINVAR_DG	25988862		★☆☆☆☆ Found in Text Mining only