CFH (complement factor H)

Gene

• Entrez ID: 3075
• Gene name: Complement factor H
• Gene symbol: CFH
• Synonyms (NCBI Gene): AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
• Chromosome: 1
• Chromosome location: 1q31.3
• Summary: This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complem

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs460184	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs460897	C>T	Risk-factor, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs800292	G>A	Benign, risk-factor, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs1061170	C>A,G,T	Benign, risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1410996	G>A,C	Risk-factor	Intron variant, genic downstream transcript variant
rs2274700	G>A,C,T	Benign, risk-factor	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs121913051	C>G,T	Uncertain-significance, risk-factor	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs121913052	T>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913053	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913054	G>A,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs121913055	T>G	Risk-factor	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913056	T>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913057	T>A,C	Pathogenic, risk-factor	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs121913058	G>A,C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913059	C>T	Pathogenic, risk-factor	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913060	G>T	Risk-factor	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs121913061	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121913062	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913063	G>T	Risk-factor	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs387906550	T>G	Pathogenic	Intron variant
rs570523689	C>G,T	Risk-factor	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs796052136	CAACTTGTGCAAAAAGATAGAATC>-	Risk-factor	3 prime UTR variant, terminator codon variant, inframe indel, stop lost, genic downstream transcript variant, non coding transcript variant
rs796052137	GAAA>-	Risk-factor	Coding sequence variant, frameshift variant, non coding transcript variant
rs796052138	AGA>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs886039869	T>C,G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1131690796	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1300996807	A>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553270437	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553273733	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1558162157	CCCAGATGCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1573026975	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1573076111	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs1573087200	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000303	hsa-miR-146a-5p	Western blot	18801740
MIRT000303	hsa-miR-146a-5p	Western blot	19540598
MIRT736902	hsa-miR-155-3p	Luciferase reporter assay, RNA-seq, Flow cytometry	33037565
MIRT2502241	hsa-miR-1291	CLIP-seq
MIRT2502242	hsa-miR-185	CLIP-seq
MIRT2502243	hsa-miR-192	CLIP-seq
MIRT2502244	hsa-miR-215	CLIP-seq
MIRT2502245	hsa-miR-31	CLIP-seq
MIRT2502246	hsa-miR-3128	CLIP-seq
MIRT2502247	hsa-miR-3135b	CLIP-seq
MIRT2502248	hsa-miR-320e	CLIP-seq
MIRT2502249	hsa-miR-328	CLIP-seq
MIRT2502250	hsa-miR-3661	CLIP-seq
MIRT2502251	hsa-miR-3664-3p	CLIP-seq
MIRT2502252	hsa-miR-383	CLIP-seq
MIRT2502253	hsa-miR-3923	CLIP-seq
MIRT2502254	hsa-miR-4306	CLIP-seq
MIRT2502255	hsa-miR-4436a	CLIP-seq
MIRT2502256	hsa-miR-4644	CLIP-seq
MIRT2502257	hsa-miR-510	CLIP-seq
MIRT2502258	hsa-miR-512-5p	CLIP-seq
MIRT2502259	hsa-miR-631	CLIP-seq
MIRT2502260	hsa-miR-640	CLIP-seq
MIRT2502261	hsa-miR-659	CLIP-seq
MIRT2502262	hsa-miR-711	CLIP-seq
MIRT2502241	hsa-miR-1291	CLIP-seq
MIRT2502242	hsa-miR-185	CLIP-seq
MIRT2502243	hsa-miR-192	CLIP-seq
MIRT2502244	hsa-miR-215	CLIP-seq
MIRT2502245	hsa-miR-31	CLIP-seq
MIRT2502246	hsa-miR-3128	CLIP-seq
MIRT2502247	hsa-miR-3135b	CLIP-seq
MIRT2502248	hsa-miR-320e	CLIP-seq
MIRT2502249	hsa-miR-328	CLIP-seq
MIRT2502250	hsa-miR-3661	CLIP-seq
MIRT2502251	hsa-miR-3664-3p	CLIP-seq
MIRT2502252	hsa-miR-383	CLIP-seq
MIRT2502253	hsa-miR-3923	CLIP-seq
MIRT2502254	hsa-miR-4306	CLIP-seq
MIRT2502255	hsa-miR-4436a	CLIP-seq
MIRT2502256	hsa-miR-4644	CLIP-seq
MIRT2678050	hsa-miR-4696	CLIP-seq
MIRT2502257	hsa-miR-510	CLIP-seq
MIRT2502258	hsa-miR-512-5p	CLIP-seq
MIRT2502259	hsa-miR-631	CLIP-seq
MIRT2502260	hsa-miR-640	CLIP-seq
MIRT2502261	hsa-miR-659	CLIP-seq
MIRT2502262	hsa-miR-711	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Repression	17558024

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001851	Function	Complement component C3b binding	IBA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	16612335, 17244159, 17293598, 17339482, 17399790, 18627465, 18786923, 19050261, 19084272, 19225461, 19632990, 19680263, 19850925, 20042240, 21317894, 21930971, 21979047, 22786770, 23332154, 24835392, 26468283, 26538390, 28258151, 28533443, 28671664, 29374201
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	20378178, 28671664
GO:0005615	Component	Extracellular space	TAS	9312129
GO:0006508	Process	Proteolysis	IDA	28671664
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	24835392
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	TAS	9312129
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0008201	Function	Heparin binding	IDA	22471560
GO:0008201	Function	Heparin binding	IEA
GO:0030449	Process	Regulation of complement activation	IDA	25284781
GO:0030449	Process	Regulation of complement activation	IEA
GO:0030451	Process	Regulation of complement activation, alternative pathway	IDA	20378178, 28671664
GO:0042802	Function	Identical protein binding	IPI	19505476, 19850925, 26468283
GO:0043395	Function	Heparan sulfate proteoglycan binding	IDA	22471560
GO:0045087	Process	Innate immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0106139	Component	Symbiont cell surface	IDA	23332154
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IDA	25284781
GO:1905370	Component	Serine-type endopeptidase complex	IPI	28671664

Other IDs

• MIM: 134370
• HGNC: 4883
• e!Ensembl: ENSG00000000971

Protein

• UniProt ID: P08603
• Protein name: Complement factor H (H factor 1)
• Protein function: Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complem
• PDB: 1HAQ, 1HCC, 1HFH, 1HFI, 2BZM, 2G7I, 2IC4, 2JGW, 2JGX, 2KMS, 2QFG, 2QFH, 2RLP, 2RLQ, 2UWN, 2V8E, 2W80, 2W81, 2WII, 2XQW, 3GAU, 3GAV, 3GAW, 3KXV, 3KZJ, 3OXU, 3R62, 3RJ3, 3SW0, 4AYD, 4AYE, 4AYI, 4AYM, 4B2R, 4B2S, 4J38, 4K12, 4ONT, 4ZH1, 5NBQ, 5O32, 5O35, 5WTB, 6ATG, 6ZH1, 7WKI, 7ZJM, 9F7I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	22 → 80	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	85 → 141	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	146 → 205	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	210 → 262	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	267 → 320	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	325 → 386	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	387 → 442	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	448 → 505	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	509 → 564	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	569 → 623	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	630 → 684	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	691 → 744	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	811 → 864	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	870 → 926	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	931 → 984	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	989 → 1043	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1048 → 1102	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1109 → 1163	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1167 → 1228	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retinal pigment epithelium (at protein level) (PubMed:25136834). CFH is one of the most abundant complement components in blood where the liver is the major source of CFH protein in vivo. in addition, CFH is secreted b
• Sequence:

  MRLLAKIICLMLWAICVAEDCNELPPRRNTEILTGSWSDQTYPEGTQAIYKCRPGYRSLG
  NVIMVCRKGEWVALNPLRKCQKRPCGHPGDTPFGTFTLTGGNVFEYGVKAVYTCNEGYQL
  LGEINYRECDTDGWTNDIPICEVVKCLPVTAPENGKIVSSAMEPDREYHFGQAVRFVCNS
  GYKIEGDEEMHCSDDGFWSKEKPKCVEISCKSPDVINGSPISQKIIYKENERFQYKCNMG
  YEYSERGDAVCTESGWRPLPSCEEKSCDNPYIPNGDYSPLRIKHRTGDEITYQCRNGFYP
  ATRGNTAKCTSTGWIPAPRCTLKPCDYPDIKHGGLYHENMRRPYFPVAVGKYYSYYCDEH
  FETPSGSYWDHIHCTQDGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGKSIDVACHPGY
  ALPKAQTTVTCMENGWSPTPRCIRVKTCSKSSIDIENGFISESQYTYALKEKAKYQCKLG
  YVTADGETSGSITCGKDGWSAQPTCIKSCDIPVFMNARTKNDFTWFKLNDTLDYECHDGY
  ESNTGSTTGSIVCGYNGWSDLPICYERECELPKIDVHLVPDRKKDQYKVGEVLKFSCKPG
  FTIVGPNSVQCYHFGLSPDLPICKEQVQSCGPPPELLNGNVKEKTKEEYGHSEVVEYYCN
  PRFLMKGPNKIQCVDGEWTTLPVCIVEESTCGDIPELEHGWAQLSSPPYYYGDSVEFNCS
  ESFTMIGHRSITCIHGVWTQLPQCVAIDKLKKCKSSNLIILEEHLKNKKEFDHNSNIRYR
  CRGKEGWIHTVCINGRWDPEVNCSMAQIQLCPPPPQIPNSHNMTTTLNYRDGEKVSVLCQ
  ENYLIQEGEEITCKDGRWQSIPLCVEKIPCSQPPQIEHGTINSSRSSQESYAHGTKLSYT
  CEGGFRISEENETTCYMGKWSSPPQCEGLPCKSPPEISHGVVAHMSDSYQYGEEVTYKCF
  EGFGIDGPAIAKCLGEKWSHPPSCIKTDCLSLPSFENAIPMGEKKDVYKAGEQVTYTCAT
  YYKMDGASNVTCINSRWTGRPTCRDTSCVNPPTVQNAYIVSRQMSKYPSGERVRYQCRSP
  YEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLSVYAPASSVEYQCQN
  LYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYSRTGESVEFV
  CKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR

• Sequence length: 1231

Pathways

KEGG:

Complement and coagulation cascades
Staphylococcus aureus infection

Reactome:

Regulation of Complement cascade

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Age related macular degeneration 4	Likely pathogenic; Pathogenic	rs757785149, rs2149082076, rs2149113459, rs1210674261, rs150694809, rs1274067311, rs1669420365, rs121913051, rs976333015, rs460897, rs1061170, rs121913061	RCV002488198 RCV005868381 RCV005002715 RCV002484526 RCV002507687 RCV005002859 RCV005002893 RCV005003620 RCV005871185 RCV002496396 RCV000018015 RCV005867775
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs757785149, rs755790570, rs575109631, rs2149118700, rs2149082076, rs1387205085, rs1210674261, rs2149088724, rs150694809, rs2149103688, rs2529561797, rs1354648948, rs2529561891, rs121913051, rs976333015, rs780411647, rs460897, rs121913057, rs121913060, rs1328357943, rs1652989506	RCV005866984 RCV005867068 RCV005867081 RCV005867153 RCV005868381 RCV004017872 RCV005868450 RCV005868481 RCV005868475 RCV005868522 RCV002294686 RCV002294716 RCV005870133 RCV005869261 RCV005871185 RCV005871186 RCV001328244 RCV005867767 RCV005867772 RCV005867774 RCV001328128 RCV001328122
Basal laminar drusen	Likely pathogenic; Pathogenic	rs757785149, rs755790570, rs2149082076, rs2149113459, rs1210674261, rs2149088724, rs150694809, rs1274067311, rs1669420365, rs121913051, rs460897, rs1061170, rs121913061	RCV002488198 RCV005867068 RCV005868381 RCV005002715 RCV002484526 RCV005868481 RCV002507687 RCV005002859 RCV005002893 RCV005003620 RCV002496396 RCV000018016 RCV000018028
CFH-related disorder	Likely pathogenic; Pathogenic	rs1210674261, rs1274067311, rs460897	RCV004529049 RCV004782950 RCV004528119
Factor H deficiency	Likely pathogenic; Pathogenic	rs757785149, rs755790570, rs2149118700, rs2149082076, rs2149117986, rs1387205085, rs2149113459, rs1210674261, rs150694809, rs1274067311, rs1669420365, rs2529549247, rs2529499351, rs121913051, rs460897, rs121913054, rs121913058, rs796052138	RCV002488198 RCV003451763 RCV001530205 RCV005868381 RCV005054377 RCV005868382 RCV005002715 RCV002484526 RCV002507687 RCV005002859 RCV005002893 RCV003126313 RCV003148122 RCV005003620 RCV002496396 RCV000018013 RCV000018021 RCV000018022
Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely pathogenic; Pathogenic	rs757785149, rs2149113459, rs1210674261, rs150694809, rs1274067311, rs1669420365, rs2529549247, rs2529544865, rs121913051, rs460897, rs121913057, rs121913060, rs2529474366, rs2529534149, rs1311814991, rs2529386595, rs2529474661, rs2529557310, rs1131690796, rs1553273733, rs1558162157, rs1573087200, rs1573076111	RCV002488198 RCV005002715 RCV002484526 RCV002507687 RCV005002859 RCV005002893 RCV003126313 RCV003239331 RCV005003620 RCV000018008 RCV000018011 RCV000018020 RCV000018027 RCV003991313 RCV003991386 RCV004545929 RCV004555460 RCV004555760 RCV004577087 RCV000493294 RCV000505614 RCV000735706 RCV000787023 RCV001029905
Malignant tumor of urinary bladder	Pathogenic	rs150694809	RCV005924351

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs35814900, rs35274867	RCV005891565 RCV005891572
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs35274867	RCV005891575
Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance	rs1370184894, rs1450633243	RCV001849195 RCV001849196
Cervical cancer	Benign; Likely benign	rs385892, rs35274867, rs35742764	RCV005920345 RCV005891576 RCV005891588
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs35343172, rs35836460, rs886045741, rs143237092, rs3753396, rs7537967, rs1065489, rs762143457, rs34362004, rs142718541, rs35906110, rs140356702, rs886045743, rs148182625, rs34815383, rs62641697, rs1061170, rs34399588, rs757045842, rs15809, rs147403664, rs886045746, rs755926856, rs463726, rs149474608, rs779166622, rs61822181, rs527444515, rs886045742, rs35814900, rs201686629, rs34940854, rs140107330, rs1061147, rs35453854, rs56035657, rs144325643, rs55807605, rs35292876, rs186711438, rs145975787, rs190778135, rs201816520, rs55679475, rs55771831, rs488738, rs184188486, rs2274700, rs201411537, rs886045745, rs55752475, rs515299, rs534399, rs34594237, rs35274867, rs35742764, rs800292, rs121913059, rs11539862, rs374729595, rs777300338, rs139254423, rs749875053, rs779670935, rs141336681, rs769615121, rs142937931, rs371053403, rs1668781638, rs760174473, rs772553879, rs374704701, rs752302466, rs1212658402, rs149938052, rs764539113, rs409953, rs369221006, rs200079172, rs375176505, rs572034879, rs513699	RCV000384228 RCV000304428 RCV000298861 RCV000403698 RCV000368440 RCV000381483 RCV000362551 RCV000264506 RCV000367661 RCV000380655 RCV000385610 RCV000359329 RCV000402549 RCV000395440 RCV000328033 RCV000391542 RCV000349294 RCV000402427 RCV000303163 RCV000311659 RCV000365181 RCV000405385 RCV000338500 RCV000318079 RCV000367943 RCV000327143 RCV000352377 RCV000272239 RCV000270751 RCV000286150 RCV000318678 RCV000404411 RCV000336891 RCV000354801 RCV000330389 RCV000391977 RCV000260677 RCV000293012 RCV000265103 RCV000373406 RCV000260915 RCV000376768 RCV000408202 RCV000362490 RCV000296097 RCV000344611 RCV000379854 RCV000338900 RCV000336971 RCV000326920 RCV000385113 RCV001098917 RCV001099015 RCV000356426 RCV000298640 RCV000340108 RCV000331871 RCV001099303 RCV001100833 RCV001101089 RCV001096771 RCV001100099 RCV001100103 RCV001102097 RCV001096684 RCV001098525 RCV001100290 RCV001098618 RCV001100409 RCV001098711 RCV001097069 RCV001097072 RCV001098818 RCV001098919 RCV001100998 RCV001099196 RCV001097539 RCV001095851 RCV001098417 RCV001100907 RCV001097266 RCV001099102
Cholangiocarcinoma	Benign; Likely benign	rs35814900	RCV005891569
Chronic kidney disease	Conflicting classifications of pathogenicity	rs1362306576	RCV001171329
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	rs781393769, rs35274867	RCV005923910 RCV005891577
Colorectal cancer	Benign; Likely benign	rs35274867	RCV005891579
Familial Atypical Hemolytic-Uremic Syndrome	Conflicting classifications of pathogenicity	rs2149118712	RCV003324010
Familial cancer of breast	Conflicting classifications of pathogenicity	rs748791414	RCV005868295
Focal segmental glomerulosclerosis	Conflicting classifications of pathogenicity; Benign	rs768526062, rs3753396, rs1065489, rs800292	RCV002294661 RCV002294229 RCV002294233 RCV002293982
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs748791414, rs35814900, rs35274867	RCV005868299 RCV005891566 RCV005891581
Hepatocellular carcinoma	Benign; Likely benign	rs482934, rs35274867	RCV005920049 RCV005891573
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs113347629, rs147864267, rs203687, rs777206700, rs147170171, rs61822181, rs121913059	RCV002294476 RCV002294509 RCV002294621 RCV002294628 RCV002294703 RCV002294239 RCV002293983
Lung cancer	Benign; Likely benign	rs35814900, rs35274867	RCV005891570 RCV005891586
Macular degeneration	Uncertain significance	rs886045744	RCV000383535
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs748791414	RCV005868298
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	rs748791414, rs35274867	RCV005868297 RCV005891574
Melanoma	Benign; Likely benign	rs35274867	RCV005891585
Mesangiocapillary glomerulonephritis, type II	Uncertain significance	rs886045744	RCV000321856
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	Conflicting classifications of pathogenicity	rs145975787	RCV001849179
Optic atrophy	Conflicting classifications of pathogenicity	rs374729595	RCV004817965
Ovarian serous cystadenocarcinoma	Benign	rs385892, rs35742764	RCV005920347 RCV005891589
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs142266551, rs781393769, rs777206700, rs199963716, rs754932801, rs201816520, rs121913059, rs777300338	RCV004815728 RCV004815689 RCV004817012 RCV004817079 RCV004817113 RCV004816522 RCV004814908 RCV004817986
Sarcoma	Benign; Likely benign	rs385892, rs35274867	RCV005920346 RCV005891580
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	rs748791414	RCV005868296
Thrombotic microangiopathy	Uncertain significance; Benign; Likely benign	rs1408179720, rs35274867	RCV001849192 RCV001849180
Thymoma	Benign; Likely benign	rs35814900, rs35274867	RCV005891568 RCV005891583
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs35274867	RCV005891584
Uterine carcinosarcoma	Benign; Likely benign	rs35814900, rs35274867	RCV005891567 RCV005891582
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs385892, rs748791414, rs35274867, rs35742764	RCV005920348 RCV005868300 RCV005891587 RCV005891590
Uveal melanoma	Benign; Likely benign	rs35274867	RCV005891578

Associations from Text Mining
Disease Name	Relationship Type	References
Ablepharon macrostomia syndrome	Associate	31970928
Abortion Habitual	Associate	31861421
Abortion Habitual	Inhibit	31861421
Abortion Spontaneous	Associate	30131807, 31861421
Acute Kidney Injury	Associate	30380547
Adenocarcinoma	Associate	24885016
Adenoma	Associate	24516561
Alcohol Related Disorders	Associate	26045838
Alternating hemiplegia of childhood	Associate	17018561, 21555552, 22542290, 25188723, 33384694, 33519811
Alzheimer Disease	Associate	18801740, 22660168, 26243271, 35387811, 37480051
Anemia Sickle Cell	Associate	30630982
Aneurysm	Associate	20971742
Aneurysm Ruptured	Associate	20971742
Anodontia	Inhibit	9312129
Anterior Spinal Artery Syndrome	Inhibit	38187376
Arthritis Reactive	Associate	10931160
Arthritis Rheumatoid	Associate	10931160, 12780697, 37996918
Asthma	Associate	30366082, 32817007
Ataxia Telangiectasia	Associate	23112567, 28729648
Atherosclerosis	Associate	18292760, 19076828
Atherosclerosis	Inhibit	30519244
Atrophy	Inhibit	21633121
Atrophy	Associate	26243271, 34160562, 37020564
Atypical Hemolytic Uremic Syndrome	Associate	16386793, 16533809, 16601698, 17367211, 17973958, 18006700, 18235085, 18268093, 18424762, 18483746, 19005013, 19373492, 19459807, 19745068, 19861685, 19951285, 20016463, 20059470, 20203157, 20595690, 20703214, 20723134, 20738267, 20877372, 21051740, 21103695, 21617085, 21868097, 21877169, 22410797, 22420623, 22494769, 22622361, 22669319, 22786770, 23243267, 23356914, 23431077, 23880784, 23982707, 25037630, 25608561, 25659429, 25816809, 26376859, 26604087, 26703217, 27064621, 28275964, 28941939, 28993505, 29215813, 29500241, 29511899, 29740447, 29888403, 30377230, 30715674, 31118930, 32361709, 33784485, 33826112, 33988670, 34189567, 34388364, 34643860, 36091034, 36591301, 36755127, 36793547, 37744338, 37954621, 39643072
Autism Spectrum Disorder	Associate	37031449
Autoimmune Diseases	Associate	29874282, 32361709, 36091034, 37406976
Autoimmune Diseases of the Nervous System	Associate	31014550, 33384694
Basal Laminar Drusen	Associate	18252232, 22933840, 25814826, 27007659, 30905644
Behcet Syndrome	Associate	22876110
Blindness	Associate	15895326
Brain Neoplasms	Associate	26849056
Breast Neoplasms	Associate	32923173
Brugada Syndrome	Stimulate	23276942
Calcinosis	Associate	35398599
Carcinoma Hepatocellular	Associate	22065898
Carcinoma Squamous Cell	Stimulate	23938460
Carcinoma Squamous Cell	Associate	26297502
Cardiovascular Diseases	Associate	16630992, 18292760, 40023439
Central Nervous System Diseases	Associate	23243267
Central Serous Chorioretinopathy	Associate	26305533, 29844195, 30073298, 31815877, 31988359, 32774081, 33976403, 35052395, 35732691, 36749597, 37067365, 38263930, 38383077
Central Serous Chorioretinopathy	Stimulate	30073298
Cerebral Infarction	Associate	18292760
Chlamydophila Infections	Associate	19169230
Choroidal Neovascularization	Associate	17631852, 18292785, 21232084, 22678500, 22699975, 24847905, 27832277, 31988359
Choroiditis	Associate	16774956, 17464302, 32328755, 33900362, 36749597
Chronic Disease	Associate	20660596, 35693785, 38155185
Chronic Kidney Disease Mineral and Bone Disorder	Associate	30356754, 40023439
Cognition Disorders	Associate	23662819, 26243271
Colorectal Neoplasms	Associate	24516561
Complement Component 3 Deficiency Autosomal Recessive	Associate	28729648
Complement Factor H Deficiency	Associate	11170896, 18268093, 22420623, 23772024, 26376859, 28729648, 28941939, 29500241, 29592796, 29874282, 29888403, 30595568, 31118930, 33519811, 35693785, 36755127, 37615951, 9312129, 9551389
Complement Factor H Deficiency	Inhibit	8809142
Corneal Neovascularization	Associate	18682806, 22247473, 24498017
Coronary Aneurysm	Associate	29207079
Coronary Artery Disease	Associate	29207079
Coronary Disease	Associate	16630992, 18292760
COVID 19	Associate	34997957, 35064759, 36805858, 39643072
Cytokine Release Syndrome	Inhibit	37996918
Diabetes Gestational	Associate	35370940
Diabetes Mellitus	Associate	16630992, 24675670
Diabetes Mellitus Type 2	Associate	24586071
Diabetic Nephropathies	Associate	37063851
Diabetic Retinopathy	Associate	21067572, 23864767, 29096998, 32117292, 35925583
Disease	Associate	35398599
Disruptive Impulse Control and Conduct Disorders	Inhibit	17018561
Dowling Degos Disease	Associate	16299065
Down Syndrome	Associate	22182977, 28381748
Drug Hypersensitivity	Associate	29288229
Drug Related Side Effects and Adverse Reactions	Associate	23850806
Dry Eye Syndromes	Associate	23840815, 25214719
Epileptic Syndromes	Associate	26471127
Epiretinal Membrane	Associate	32117292
Exanthema	Associate	29288229
Exanthema	Inhibit	31795786
Extranodal Extension	Associate	35925583
Eye Diseases	Associate	24278416
Fatigue Syndrome Chronic	Associate	26116897
Fibrosis	Associate	37020564
Genetic Diseases Inborn	Associate	10577907, 27064621, 28056875
Geographic Atrophy	Associate	18682806, 19823576, 22247473, 22699975, 24498017, 25880396, 26918864, 27257685, 30071029, 32138827
Geographic Atrophy	Stimulate	21402993
Glioma	Associate	30111766
Glomerulonephritis	Associate	22542290, 24586071, 28381748, 36211394, 36227893
Glomerulonephritis IGA	Associate	24458077, 24586071, 25205734, 26825529, 26940089, 28637589, 37651123
Glomerulonephritis Membranoproliferative	Associate	16299065, 16533809, 16612335, 18252712, 19549636, 20723134, 20832153, 21415311, 21784901, 21881555, 22456601, 22790979, 24334459, 24338037, 24586071, 28729648, 33519811, 34588735, 35398599, 37615951
Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency	Associate	22790979, 24586071, 29370420, 30595568, 31014550
Glomerulosclerosis Focal Segmental	Associate	22594991
Glutaric Acidemia I	Associate	27257685
Glycogen Storage Disease Type II	Associate	16723442, 19117936, 24498017, 24906858, 25125603, 25205864, 25214719, 27196323, 30366082, 32176267, 33946050, 37079300
Graft vs Host Disease	Associate	20730046
Gray Platelet Syndrome	Associate	28707765
Gyrate Atrophy	Associate	30596689
Hearing Loss Bilateral	Associate	32138827
Heart Failure	Associate	32383555, 38225249, 40023439
HELLP Syndrome	Associate	18658028
Hemoglobinuria Paroxysmal	Associate	36626252
Hemolysis	Associate	18658028
Hemolytic Uremic Syndrome	Associate	10577907, 11170895, 11170896, 12960213, 15634279, 15784724, 15816899, 16386793, 16889549, 17018561, 17076561, 17076562, 18006700, 18235085, 18252712, 18483746, 19005013, 19076829, 19422347, 19435718, 19459807, 19549636, 19861685, 19951285, 20723134, 21617085, 21868097, 21881555, 22019782, 22223611, 22494769, 22790979, 22894814, 23243267, 23772024, 23880784, 24005975, 24088957, 24671321, 25150608, 25188723, 25496981, 25538218, 25803806, 25925370, 26376859, 26703217, 26880823, 27799617, 28720077, 28750931, 29745120, 29778558, 30177469, 30595568, 30715674, 31719147, 32361709, 33519811, 33519821, 33777036, 34997957, 35398599, 35730179, 9551389
Hemorrhage	Associate	17995985
HIV Infections	Associate	8551237
Hyperlipidemias	Associate	29096998
Hypertension	Associate	18292760, 22848687
Hypertensive Retinopathy	Associate	23864767, 28275964
Hypomagnesemia primary	Inhibit	19951285
Hypomagnesemia primary	Associate	19951285
Hypothyroidism	Associate	29301248
Immune Complex Diseases	Associate	36211394
Immune System Diseases	Associate	35398599
Immunoglobulin G4 Related Disease	Associate	33643292
Immunologic Deficiency Syndromes	Associate	18268093, 19825847, 19833879, 20703214, 23365078, 24005975, 25205734, 27811836, 29370420, 29874282, 31440263, 33784485, 35064759, 35315933, 36211394, 37651123
Infections	Associate	21825189, 28381748, 30089174, 31014550, 39643072
Inflammation	Associate	10931160, 16787919, 17293598, 17339482, 18704199, 18801740, 20660596, 21640790, 22246034, 23596508, 25188723, 25214719, 33643312, 33918210, 36091034, 39616737
Inflammation	Inhibit	12780697, 30519244, 37996918
Insulin Resistance	Associate	19833879, 36293087
Kidney Diseases	Associate	19242507, 20723134, 20832153, 24885016, 25124117, 26376859, 28637589, 28729648, 34566977
Kidney Failure Chronic	Associate	16889549, 20738267, 23880784, 24586071, 29215813, 29907460, 37615951
Kidney Failure Chronic	Stimulate	34043214
Kidney Neoplasms	Associate	27706724
Late Onset Disorders	Associate	20042653
Legg Calve Perthes Disease	Associate	26438379
Leukemia Lymphocytic Chronic B Cell	Associate	23760402, 23850806
Leukemia Myeloid Acute	Associate	27473565
Lupus Erythematosus Systemic	Associate	21637784, 24458077, 30170966, 33784485, 35398599
Lupus Nephritis	Associate	36211394
Lymphoma Follicular	Associate	22718493
Macular Degeneration	Associate	15761122, 15870199, 15895326, 15930014, 16080115, 16300415, 16379025, 16518403, 16533809, 16541016, 16642439, 16774956, 16787919, 16885922, 16936733, 17050575, 17079491, 17167412, 17293598, 17314151, 17339482, 17360715, 17438673, 17464302, 17558024, 17631852, 17877809, 17995985, 18043728, 18162041, 18223247, 18252232, 18252712, 18292785, 18316707, 18461138, 18493315, 18538409, 18541031, 18596911, 18627465, 18682806, 18682812, 18704199, 18852870, 18936151, 18996904, 19027484, 19029036, 19043567, 19048105, 19074778, 19076829, 19077177, 19091853, 19169230, 19169411, 19202148, 19549636, 19661236, 19796758, 19806217, 19823576, 19845562, 19850925, 20042653, 20346514, 20378180, 20385819, 20626361, 20660596, 20723134, 20861866, 20876352, 20881291, 21106043, 21139680, 21169531, 21197116, 21232084, 21396937, 21402993, 21555552, 21633121, 21682878, 21729696, 21762495, 21825189, 21850184, 21855625, 21856016, 21878851, 21881555, 21906714, 22019782, 22022419, 22035603, 22065928, 22247456, 22293892, 22355348, 22481475, 22558131, 22694956, 22848687, 22848690, 22933840, 22965593, 22969267, 23112567, 23233260, 23302509, 23365078, 23365660, 23494043, 23497844, 23559864, 23577725, 23596508, 23687431, 23772024, 23840815, 23873044, 23922956, 23938121, 24036952, 24083687, 24265543, 24278416, 24346170, 24367156, 24453474, 24526414, 24550369, 24576882, 24608419, 24634144, 24675670, 24847005, 24863099, 24901472, 24906858, 24953792, 24974817, 25033836, 25074767, 25124117, 25188723, 25204844, 25277308, 25305316, 25340497, 25402348, 25655794, 25735482, 25742403, 25771815, 25786237, 25814824, 25814826, 25880396, 26045838, 26091360, 26152901, 26154559, 26171855, 26255974, 26312598, 26354764, 26376859, 26501415, 26542071, 26654980, 26705092, 26746578, 26765636, 26767664, 26854823, 26861912, 26961257, 26961928, 27099955, 27196323, 27225020, 27241480, 27257685, 27316788, 27376713, 27471039, 27502478, 27572114, 27647805, 27706724, 27832277, 27974306, 28108569, 28120909, 28228273, 28332910, 28859202, 28912512, 28926193, 29132549, 29311295, 29346644, 29367644, 29374201, 29398083, 29410599, 29529059, 29592796, 29596588, 29801032, 29844195, 29888403, 30089174, 30217822, 30389371, 30596689, 30616835, 30696427, 30820144, 30934838, 30996586, 31176916, 31554875, 31658355, 31731799, 31795454, 31861421, 31970928, 32034129, 32138827, 32246154, 32321835, 32587311, 32717343, 32762675, 32815311, 33253757, 33273512, 33320170, 33354892, 33369641, 33519811, 33595494, 33604378, 33900362, 33918210, 34233521, 34260947, 34260948, 34445430, 34508573, 34563268, 34647987, 34911940, 35063911, 35113155, 35285476, 35398599, 35561216, 35630075, 35657810, 35805159, 35925583, 35930268, 36036675, 36379987, 36544284, 36643920, 36749597, 37089696, 37934784, 37975850, 38067097, 38383077, 39487449, 39643072, 39959171, 40593839
Macular Degeneration	Stimulate	21273533, 31267090
Macular Degeneration	Inhibit	27316788
Macular Degeneration Age Related 2	Associate	20861866, 23112567
Macular dystrophy retinal 1 North Carolina type	Associate	32476814
Mesangial Sclerosis Diffuse Renal with Ocular Abnormalities	Associate	24586071
Metabolic Diseases	Associate	19833879
Metabolic Syndrome	Associate	19833879
Mitochondrial Diseases	Associate	33918210
Monoclonal Gammopathy of Undetermined Significance	Associate	20832153
Mouth Diseases	Associate	28707765
Mucocutaneous Lymph Node Syndrome	Associate	29207079
Multifocal Choroiditis	Associate	23497844, 37410486
Multiple Myeloma	Associate	36849497
Multiple Sclerosis	Associate	22354735
Muscular Disorders Atrophic	Associate	15930014
Myocardial Infarction	Associate	16630992
Necrosis	Associate	17293598
Neoplasms	Associate	12402151, 32923173
Nephritis	Associate	22171659
Neurocognitive Disorders	Associate	20841369
Neuroinflammatory Diseases	Associate	37155564
Neurologic Manifestations	Associate	17973958
Neuromyelitis Optica	Inhibit	31708932
Noncommunicable Diseases	Stimulate	38187376
Obesity	Associate	19833879, 21947364, 24287500
Oligospermia	Associate	18658028
Ovarian Neoplasms	Associate	12402151, 27035765
Panuveitis	Associate	23497844
Parkinson Disease	Associate	15920296
Patterned dystrophy of retinal pigment epithelium	Associate	33918210
Periodontitis	Associate	35315933
Personality Disorders	Associate	19077177
Pituitary Neoplasms	Associate	37803932
Platelet Factor 3 Deficiency	Associate	19861685
Pneumococcal Infections	Associate	18627465
Polycystic Kidney Autosomal Dominant	Associate	28637589
Polycystic Ovary Syndrome	Associate	36293087, 40243681
Polypoidal Choroidal Vasculopathy	Associate	17995985, 20378180, 25277308, 25771815, 26171855, 26861912, 31988359, 32328755, 32346038, 33920794, 38383077
Post Infectious Disorders	Associate	28381748, 36211394
Pre Eclampsia	Associate	23797962, 32179765
Prediabetic State	Associate	40023439
Pressure Ulcer	Associate	22848687
Primary Immunodeficiency Diseases	Associate	28729648, 28911789
Prostatic Neoplasms	Associate	19197355, 21804603
Prostatic Neoplasms	Inhibit	23009291
Prostatitis	Associate	21804603
Protein Losing Enteropathies	Associate	25277308, 35630075
Psychological Distress	Associate	26654980
Pulmonary Arterial Hypertension	Associate	24847905
Purpura Thrombotic Thrombocytopenic	Associate	25893747
Renal Insufficiency	Associate	17973958, 27064621
Reticular dysgenesis	Associate	21825189, 29801032, 31558345, 32163116, 35136347, 40064387
Reticular Dystrophy Of Retinal Pigment Epithelium	Associate	18936151
Retinal Degeneration	Associate	33354892
Retinal Detachment	Associate	30142373, 31988359, 33920794, 35925583
Retinal Diseases	Associate	28228273
Retinal Drusen	Associate	15870199, 16300415, 18043728, 18252232, 18538409, 18786923, 18936151, 21633121, 22247473, 23840815, 24083687, 25214719, 25880396, 26901353, 27502478, 27572114, 28859202, 29096998, 30905644, 31658355, 32407518, 32815311, 34260947, 34911940, 35925583
Retinal Vein Occlusion	Associate	33270842
Retinitis	Associate	24847905, 26861912, 29374201, 32587311, 33920794
Retinopathy of Prematurity	Associate	18787502, 40084286
Rheumatic Diseases	Associate	22894814
Sarcoidosis	Associate	23497844
Schizophrenia	Associate	39616737
Scleroderma Diffuse	Associate	20730046
Scleroderma Systemic	Associate	32361709
Sjogren's Syndrome	Associate	31708932
Smoke Inhalation Injury	Associate	18162041
Squamous Cell Carcinoma of Head and Neck	Stimulate	31253657
Status Asthmaticus	Associate	30630982
Stevens Johnson Syndrome	Inhibit	31795786
Syndrome	Associate	33643312
Thinness	Associate	30596689
Thrombocytopenia	Associate	18268093, 23243267
Thrombosis	Associate	17973958, 36626252
Thrombotic Microangiopathies	Associate	17973958, 18557729, 23814021, 33643292, 36680323, 36849497, 37984551
Uveitis	Associate	22876110, 23497844, 27419833
Uveitis Anterior	Associate	22065918, 27419833
Uveitis Intermediate	Associate	22876110
Uveitis Posterior	Associate	22876110, 23497844, 38187376
Uveomeningoencephalitic Syndrome	Associate	22876110
Vascular Diseases	Associate	29136640
Vision Disorders	Associate	17464302, 18252232, 18627465, 20876352, 38282487
Weight Loss	Inhibit	19833879
Wet Macular Degeneration	Associate	33946050
Yin Deficiency	Associate	27706724