Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81494
Gene name	Complement factor H related 5
Gene symbol	CFHR5
Synonyms (NCBI Gene)	CFHL5CFHR5DFHR-5FHR5
Chromosome	1
Chromosome location	1q31.3
Summary	This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41299613	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs368209619	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs565457964	->A,AA	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, frameshift variant
rs751010317	C>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained

216

Show/Hide all (216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT633597	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT633596	hsa-miR-4258	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633595	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT633597	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633595	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT633594	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT633597	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT633596	hsa-miR-4258	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633595	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT633594	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT633597	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT633596	hsa-miR-4258	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633595	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT633597	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633595	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT633594	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT633597	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT633596	hsa-miR-4258	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633595	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT633594	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT631575	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT631574	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT619366	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT619365	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619364	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619363	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619362	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619361	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619360	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619359	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619358	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619357	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619356	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT619355	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT619354	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT619353	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT887424	hsa-miR-200b	CLIP-seq
MIRT887425	hsa-miR-200c	CLIP-seq
MIRT887426	hsa-miR-2054	CLIP-seq
MIRT887427	hsa-miR-221	CLIP-seq
MIRT887428	hsa-miR-222	CLIP-seq
MIRT887429	hsa-miR-3617	CLIP-seq
MIRT887430	hsa-miR-429	CLIP-seq
MIRT887431	hsa-miR-4517	CLIP-seq
MIRT887432	hsa-miR-4667-3p	CLIP-seq
MIRT887433	hsa-miR-548v	CLIP-seq
MIRT887434	hsa-miR-641	CLIP-seq
MIRT2199592	hsa-miR-4699-5p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001851	Function	Complement component C3b binding	IBA
GO:0005515	Function	Protein binding	IPI	23487775, 23728178, 25910212, 28533443, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	11058592
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006956	Process	Complement activation	IBA
GO:0006957	Process	Complement activation, alternative pathway	NAS	11058592
GO:0032091	Process	Negative regulation of protein binding	IDA	23487775
GO:0032991	Component	Protein-containing complex	IMP	23487775
GO:0042802	Function	Identical protein binding	IPI	23487775
GO:0046982	Function	Protein heterodimerization activity	IDA	23487775
GO:0051838	Process	Cytolysis by host of symbiont cells	IMP	23487775

MIM	HGNC	e!Ensembl
608593	24668	ENSG00000134389

Q9BXR6

Protein name

Complement factor H-related protein 5 (FHR-5)

Protein function

Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	23 → 83	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	87 → 140	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	147 → 201	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	208 → 262	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	269 → 322	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	389 → 442	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	449 → 503	Sushi repeat (SCR repeat)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.

Sequence

MLLLFSVILISWVSTVGGEGTLCDFPKIHHGFLYDEEDYNPFSQVPTGEVFYYSCEYNFV
SPSKSFWTRITCTEEGWSPTPKCLRMCSFPFVKNGHSESSGLIHLEGDTVQIICNTGYSL
QNNEKNISCVERGWSTPPICSFTKGECHVPILEANVDAQPKKESYKVGDVLKFSCRKNLI
RVGSDSVQCYQFGWSPNFPTCKGQVRSCGPPPQLSNGEVKEIRKEEYGHNEVVEYDCNPN
FIINGPKKIQCVDGEWTTLPTCVEQVKTCGYIPELEYGYVQPSVPPYQHGVSVEVNCRNE
YAMIGNNMITCINGIWTELPMCVATHQLKRCKIAGVNIKTLLKLSGKEFNHNSRIRYRCS
DIFRYRHSVCINGKWNPEVDCTEKREQFCPPPPQIPNAQNMTTTVNYQDGEKVAVLCKEN
YLLPEAKEIVCKDGRWQSLPRCVESTAYCGPPPSINNGDTTSFPLSVYPPGSTVTYRCQS
FYKLQGSVTVTCRNKQWSEPPRCLDPCVVSEENMNKNNIQLKWRNDGKLYAKTGDAVEFQ
CKFPHKAMISSPPFRAICQEGKFEYPICE

Sequence length

569

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Regulation of Complement cascade

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
C3 glomerulonephritis	Likely pathogenic	rs758392186	RCV005253117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	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	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 GLOMERULOPATHY 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFHR5 deficiency	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFHR5-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesangiocapillary glomerulonephritis, type II	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (68)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	19365580, 23830046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	20861866, 23326517, 23577725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	23516419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30366082	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	28729648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	22065842, 22622361, 23830046		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	22622361, 36793547	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic uremic syndrome with anti-factor H antibodies	Hemolytic Uremic Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
C3 glomerulonephritis	C3 Glomerulonephritis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C3 Glomerulonephritis	C3 Glomerulonephritis	BEFREE	23125424, 23830046, 24046192, 24067434, 24536001, 30844074		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	21422921, 21566112, 22319602, 23516419, 24067434, 28729035, 29483359		★★★★★ ★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	GENOMICS_ENGLAND_DG	23402027, 24067434, 27458560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35398599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CFHR5 DEFICIENCY	C3 GLOMERULOPATHY	GENOMICS_ENGLAND_DG	20800271, 22622361, 23402027, 27458560, 28673452		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFHR5 DEFICIENCY	C3 GLOMERULOPATHY	ORPHANET_DG	20800271, 22503529, 23026947		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFHR5 DEFICIENCY	C3 GLOMERULOPATHY	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFHR5 DEFICIENCY	C3 GLOMERULOPATHY	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	23523162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21688191, 22319602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21688191, 22228437, 22319602, 22503529		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	21114651, 28729648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	28673452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	21566112, 24067434, 26432903, 28729035, 29483359, 34566977, 37916369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complement Factor I Deficiency	Complement component deficiency	Pubtator	21566112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dowling Degos Disease	Dowling degos disease	Pubtator	16299065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	16299065, 23830046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	22228437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31519376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	20800271, 22503529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	20800271, 29483359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	21566112, 25205734, 26825529, 28673452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	29759419	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	LHGDN	16299065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulopathy with fibronectin deposits	Glomerulopathy With Fibronectin Deposits	BEFREE	28632965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	30366082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	40414211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	25855355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	17000000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	32879092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29759419	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	26825529, 28673452, 29759419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20800271, 21114651, 21422921, 21566112, 22065842, 22228437, 22319602, 23125424, 23325022, 23349874, 23402027, 23516419, 24067434, 24536001, 26825529, 28012611, 30844074 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21114651, 24067434, 25855355, 26825529, 28729648, 34566977, 37916369, 40414211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	GENOMICS_ENGLAND_DG	23402027, 24067434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21566112, 29759419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21566112, 21688191, 22319602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21637784, 30485348, 30975435, 35398599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21637784, 23830046, 30975435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30975435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	30975435	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22718493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22718493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18541031, 19365580, 27647805, 29410599, 33273512, 34260947, 34260948, 34563268, 35113155, 40593839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	BEFREE	16299065, 22065842, 23830046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	29483359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	24536001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36293087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	21566112, 30975435, 40414211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	32780727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	23516419		★★★★★ ★☆☆☆☆ Found in Text Mining only

CFHR5 (complement factor H related 5)