TissGDB

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	TissGeneSummary
	TissGeneExp
	TissGene-miRNA
	TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions
	TissGeneNet
	TissGeneProg
	TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for CFH

Gene summary

Basic gene information	Gene symbol	CFH
	Gene name	complement factor H
	Synonyms	AHUS1\|AMBP1\|ARMD4\|ARMS1\|CFHL3\|FH\|FHL1\|HF\|HF1\|HF2\|HUS
	Cytomap	UCSC genome browser: 1q32
	Type of gene	protein-coding
	RefGenes	NM_000186.3, NM_001014975.2,
	Description	H factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1
	Modification date	20141221
dbXrefs	MIM : 134370
	HGNC : HGNC
	Ensembl : ENSG00000000971
	HPRD : 00601
	Vega : OTTHUMG00000035607
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CFH
	BioGPS: 3075
Pathway	NCI Pathway Interaction Database: CFH
	KEGG: CFH
	REACTOME: CFH
	Pathway Commons: CFH
Context	iHOP: CFH
	ligand binding site mutation search in PubMed: CFH
	UCL Cancer Institute: CFH
Assigned class in TissGDB*	C
Included tissue-specific gene expression resources	TiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)	BladderLiver
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)	BLCALIHC
Reference showing the relevant tissue of CFH
Description by TissGene annotations	Fused withTSGene

* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID

GO term

PubMed ID

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TissGeneExp for CFH

Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)

Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)

Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.

Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)

Cancer type	Mean(exp) in tumor	Mean(exp) in matched normal	Log2FC	P-val.	FDR
PRAD	0.31785936	1.410840129	-1.092980769	7.01E-08	6.80E-07
COAD	0.661247822	2.002251668	-1.341003846	1.04E-06	5.86E-06
KICH	-0.87071664	1.36325936	-2.233976	4.37E-09	2.46E-08
BRCA	1.804592693	2.926662869	-1.122070175	3.55E-14	1.75E-13
BLCA	1.86175936	3.630296202	-1.768536842	5.72E-05	0.000714413

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TissGene-miRNA for CFH

Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))

Cancer type

miRNA id

miRNA accession

P-val.

Coeff.

# samples

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TissGeneMut for CFH

TissGeneSNV for CFH

nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
* Click on the image to enlarge it in a new window.

Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

- nsSNVs sorted by frequency.

AAchange	Cancer type	# samples
p.G1107E	SKCM	3
p.R1203W	STAD	2
p.K583R	STAD	2
p.G605R	LUAD	2
p.G101E	SKCM	2
p.E643K	SKCM	2
p.G795R	SKCM	1
p.R27S	KIRC	1
p.M725I	SKCM	1
p.Q502X	ESCA	1
p.A1129T	LUAD	1
p.G786V	BLCA	1
p.P258L	SKCM	1
p.W1183*	SKCM	1
p.T548S	BRCA	1
p.G639V	LUAD	1
p.L335V	PRAD	1
p.K457Q	GBM	1
p.H402Y	BRCA	1
p.G409D	SKCM	1
p.L74R	SKCM	1
p.S884Y	DLBC	1
p.L758V	STAD	1
p.N794H	READ	1
p.Q81H	LUAD	1
p.K410N	LUAD	1
p.S380L	PRAD	1
p.P580S	SKCM	1
p.E841K	SKCM	1
p.E23A	BLCA	1
p.P220S	SKCM	1
p.G495C	LUSC	1
p.I221M	LIHC	1
p.E229K	SKCM	1
p.Y710H	PAAD	1
p.A1180T	DLBC	1
p.E902D	UCEC	1
p.W1183X	SKCM	1
p.V592L	BLCA	1
p.F717I	LUSC	1
p.R341H	BLCA	1
p.R830W	LUAD	1
p.S994I	LUAD	1
p.P213S	STAD	1
p.A361V	PAAD	1
p.I225S	READ	1
p.T418S	LUSC	1
p.E570K	UCEC	1
p.G856R	ESCA	1
p.N556I	LIHC	1
p.P438T	COAD	1
p.R303L	LIHC	1
p.A48T	SKCM	1
p.W436C	STAD	1
p.D988Y	HNSC	1
p.N29T	STAD	1
p.P260S	LGG	1
p.R1215*	UCEC	1
p.P328L	LUSC	1
p.P54H	LGG	1
p.G600E	SKCM	1
p.E433K	BLCA	1
p.P139H	UCEC	1
p.L98H	STAD	1
p.S209X	COAD	1
p.T645A	STAD	1
p.V65I	KIRC	1
p.Y565C	LUAD	1
p.E936D	COAD	1
p.D522E	BRCA	1
p.W198*	BLCA	1
p.R404I	LGG	1
p.Q586*	SKCM	1
p.P54L	SKCM	1
p.C374G	UCEC	1
p.S608Y	BRCA	1
p.G650E	SKCM	1
p.G133R	PRAD	1
p.G107V	HNSC	1
p.G304R	SKCM	1
p.P742S	SKCM	1
p.K583N	ESCA	1
p.S898I	ACC	1
p.A998V	SKCM	1
p.E1198K	CESC	1
p.N828I	KIRP	1
p.R404I	READ	1
p.E263X	THYM	1
p.V149M	COAD	1
p.E1098K	SKCM	1
p.V250I	CESC	1
p.L493I	UCEC	1
p.G218*	LUAD	1
p.H1212Y	LUAD	1
p.E70D	STAD	1
p.E570K	READ	1
p.S883L	SKCM	1
p.E535*	BRCA	1
p.I184V	LUSC	1
p.R582H	CESC	1
p.L394F	LUAD	1
p.V737I	READ	1
p.D585N	STAD	1
p.Y1177C	HNSC	1
p.G967W	OV	1
p.D248Y	HNSC	1
p.R830W	COAD	1
p.S705F	BRCA	1
p.K204N	LUAD	1
p.E847K	SKCM	1
p.A425V	PAAD	1
p.D585N	SKCM	1
p.R166W	SKCM	1
p.N115Y	BRCA	1
p.L77S	UCEC	1
p.H980Y	HNSC	1
p.C659F	LUAD	1
p.W71*	SKCM	1
p.P423S	SKCM	1
p.E677K	SKCM	1
p.K156I	OV	1
p.C251S	LUAD	1
p.S266P	STAD	1
p.R662G	STAD	1
p.D195Y	LUAD	1
p.G366R	BLCA	1
p.W701*	SKCM	1
p.R1206C	SKCM	1
p.R885M	STAD	1
p.R341C	STAD	1
p.C267Y	BLCA	1
p.R341H	HNSC	1
p.T690I	SKCM	1
p.G904S	LUAD	1
p.Q47H	STAD	1
p.G255E	SKCM	1
p.E289A	LGG	1
p.G89A	BLCA	1
p.I7T	COAD	1
p.R127H	PCPG	1
p.E23K	SKCM	1
p.Q502*	ESCA	1
p.A468V	COAD	1
p.Y43*	LUSC	1
p.P92S	SKCM	1
p.S546R	STAD	1
p.D137N	SKCM	1
p.C477Y	LUSC	1
p.D581N	GBM	1
p.Q875X	ESCA	1
p.T469A	LUSC	1
p.Q672*	SKCM	1
p.Q875*	ESCA	1
p.G397R	SKCM	1
p.S596Y	BLCA	1
p.M945I	GBM	1
p.W1096C	OV	1
p.E912K	LUAD	1
p.E643G	STAD	1
p.G736A	BRCA	1
p.Q494H	LUSC	1
p.H360R	LUAD	1
p.R1210H	STAD	1
p.E976K	SKCM	1
p.R40H	GBM	1
p.S411C	HNSC	1
p.E847V	BRCA	1
p.D510H	LUAD	1
p.G297V	LUAD	1
p.S706F	SKCM	1
p.G247R	SKCM	1
p.C973F	PRAD	1
p.W1219C	LUAD	1
p.E721K	SKCM	1
p.D538Y	HNSC	1
p.G1107R	SKCM	1
p.M805I	LIHC	1
p.E1175K	SKCM	1
p.G1070S	SKCM	1
p.C364S	LUSC	1
p.E696K	SKCM	1
p.D195H	LUAD	1
p.S820Y	READ	1
p.T679K	ESCA	1
p.L449F	LUAD	1
p.P618S	SKCM	1
p.A971V	STAD	1
p.E1088G	UCEC	1
p.R1074H	UCEC	1
p.G879E	SKCM	1
p.S64L	UCEC	1
p.P1080L	UCEC	1
p.G350E	SKCM	1
p.E289K	BRCA	1
p.P1161S	SKCM	1
p.E653K	CESC	1
p.S1105Y	UCEC	1
p.D772N	UCEC	1
p.P1000S	SKCM	1
p.E471X	COAD	1
p.Q47H	READ	1
p.R729I	LUAD	1
p.P139S	SKCM	1
p.G557V	LUAD	1
p.Y271N	SARC	1
p.H939Y	SARC	1
p.G1155R	SKCM	1
p.I216V	HNSC	1
p.E578*	LUSC	1
p.G736V	LUAD	1
p.S720T	LUAD	1
p.P632L	SKCM	1
p.Y420*	LUAD	1
p.C516R	GBM	1
p.P695H	PRAD	1
p.P463H	GBM	1
p.S722L	SKCM	1
p.T895I	SKCM	1
p.D533V	PAAD	1
p.P981S	SKCM	1
p.P661L	SKCM	1
p.S209A	STAD	1
p.W1037*	SKCM	1
p.K1202I	LGG	1
p.P418L	PRAD	1
p.T956M	TGCT	1
p.R582H	LUAD	1
p.E1198K	SKCM	1
p.D560G	PRAD	1
p.R175W	UCEC	1
p.P25H	PAAD	1
p.A151T	UCEC	1
p.G69V	HNSC	1
p.E289K	LGG	1
p.Y467C	LUAD	1
p.F1084L	HNSC	1
p.M1064I	HNSC	1
p.Y271H	OV	1
p.F346S	UCEC	1
p.V592M	UCEC	1
p.P273T	SKCM	1
p.T447I	BLCA	1
p.W1037X	SKCM	1
p.R257H	BRCA	1
p.T91N	BRCA	1
p.S938Y	READ	1
p.E359K	LUAD	1
p.I777L	LUAD	1
p.C516F	GBM	1
p.E841*	UCEC	1
p.R27I	KIRC	1
p.A702T	KIRC	1
p.I140L	HNSC	1
p.S1133*	LIHC	1
p.A406D	LUSC	1
p.D619Y	THYM	1
p.K932N	LUAD	1
p.G615R	SKCM	1
p.G554S	LUSC	1
p.E1198X	READ	1
p.G600R	SKCM	1
p.C56F	LUSC	1
p.I157S	SKCM	1
p.S596F	SKCM	1
p.H373Y	HNSC	1
p.M1083I	LUSC	1
p.G832R	SKCM	1
p.R778W	LUAD	1
p.R1036K	CESC	1
p.S804*	HNSC	1
p.A1019V	UCEC	1
p.A369S	LUSC	1
p.P1068S	SKCM	1
p.A473V	PRAD	1
p.R232Q	UCEC	1
p.S1132L	ESCA	1
p.R1044T	CESC	1
p.N305H	READ	1
p.G554S	KIRC	1
p.D288A	LUAD	1
p.G894E	SKCM	1
p.G967R	STAD	1
p.R1171X	READ	1
p.R444C	ESCA	1
p.P364T	LUAD	1
p.R1078M	HNSC	1
p.M665I	SKCM	1
p.G795A	BLCA	1
p.S209L	SKCM	1
p.P869S	LUSC	1
p.P279H	HNSC	1
p.E910D	LUAD	1
p.A468D	BLCA	1
p.E643X	ESCA	1
p.R518G	UCEC	1
p.A415T	UCEC	1
p.G498E	SKCM	1
p.G498E	LUAD	1
p.G186E	SKCM	1
p.R444C	ACC	1
p.T732M	STAD	1
p.H87D	LUAD	1
p.G1204R	SKCM	1
p.Q672K	UCEC	1
p.H402Y	COAD	1
p.Y1022C	BRCA	1
p.N516S	SKCM	1
p.D772Y	PAAD	1

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TissGeneCNV for CFH

Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)

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TissGeneFusions for CFH

Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)

Database	Src	Cancer type	Sample	Fusion gene	ORF	5'-gene BP	3'-gene BP
Chimerdb3.0	ChiTaRs	NA	AW371066	CFH-COL12A1		chr1:196654356	chr6:75794449
Chimerdb3.0	ChiTaRs	NA	CV350270	CFH-CFH		chr1:196643933	chr1:196643634
Chimerdb3.0	ChiTaRs	NA	AA312953	CFH-TP53INP1		chr1:196644936	chr8:95939254
Chimerdb3.0	ChiTaRs	NA	AA461475	CFH-VKORC1L1		chr1:196658157	chr7:65378095
Chimerdb3.0	ChiTaRs	NA	AF074645	UBE2H-CFH		chr7:129577896	chr1:196626337
Chimerdb3.0	ChiTaRs	NA	AW959894	CFH-TP53INP1		chr1:196644936	chr8:95938964

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TissGeneNet for CFH

Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)

BRCA (tumor)	BRCA (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

COAD (tumor)	COAD (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

HNSC (tumor)	HNSC (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

KICH (tumor)	KICH (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

KIRC (tumor)	KIRC (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

KIRP (tumor)	KIRP (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

LIHC (tumor)	LIHC (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

LUAD (tumor)	LUAD (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

LUSC (tumor)	LUSC (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

PRAD (tumor)	PRAD (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

STAD (tumor)	STAD (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

THCA (tumor)	THCA (normal)
CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (tumor)	CFH, SMAD3, GRB2, SELL, STAT1, ZBTB16, THBS1, PITX3, EP300, FOXO3, VDR, CRP, ADM, ITGAM, PTX3, C3, YTHDC1, CFI, CFHR1 (normal)

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TissGeneProg for CFH

Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image to enlarge it in a new window.

Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image enlarge it in a new window.

Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image enlarge it in a new window.

Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image enlarge it in a new window.

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TissGeneClin for CFH

TissGeneDrug for CFH

Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)

DrugBank ID

Drug name

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TissGeneDisease for CFH

Disease information associated with TissGene
(DisGeNet, 2016-06-01)

Disease ID	Disease name	# pubmeds	Source
umls:C0242383	Age related macular degeneration	393	BeFree,CTD_human,GAD,GWASCAT,LHGDN
umls:C2931788	Atypical Hemolytic Uremic Syndrome	101	BeFree,CTD_human,GAD,RGD
umls:C0019061	Hemolytic-Uremic Syndrome	72	BeFree,GAD,LHGDN
umls:C0024437	Macular degeneration	41	BeFree
umls:C0271084	Exudative age-related macular degeneration	40	BeFree,GWASCAT
umls:C0302810	Uremia syndrome	28	BeFree
umls:C0017662	Glomerulonephritis, Membranoproliferative	26	BeFree,CTD_human,LHGDN
umls:C0268743	Membranoproliferative Glomerulonephritis, Type II	23	BeFree,ORPHANET
umls:C0600518	Choroidal Neovascularization	21	GAD,LHGDN
umls:C0022661	Kidney Failure, Chronic	18	BeFree,GAD
umls:C0026848	Myopathy	16	BeFree
umls:C1260959	Drusen	16	BeFree
umls:C0024198	Lyme Disease	15	BeFree
umls:C0398777	Complement Factor H Deficiency	13	BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C2316810	Chronic kidney disease stage 5	13	BeFree
umls:C2717961	Thrombotic Microangiopathies	12	BeFree
umls:C0010068	Coronary heart disease	11	BeFree,GAD,LHGDN
umls:C0017658	Glomerulonephritis	11	BeFree,GAD
umls:C0270970	Reducing-body myopathy	11	BeFree
umls:C1536085	Geographic Atrophy	11	BeFree,GAD
umls:C0022658	Kidney Diseases	10	BeFree,GWASCAT
umls:C0017661	IGA Glomerulonephritis	9	BeFree,GAD,GWASCAT
umls:C0410189	Muscular Dystrophy, Emery-Dreifuss	9	BeFree
umls:C0034155	Purpura, Thrombotic Thrombocytopenic	8	BeFree
umls:C2749604	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	8	CLINVAR,MGD,UNIPROT
umls:C0010054	Coronary Arteriosclerosis	7	BeFree,GAD
umls:C0025303	Meningococcal Infections	7	BeFree,CTD_human,GAD
umls:C0004153	Atherosclerosis	6	BeFree,GAD
umls:C0007194	Hypertrophic Cardiomyopathy	6	BeFree
umls:C0024141	Lupus Erythematosus, Systemic	6	BeFree
umls:C0151594	Hemorrhagic diarrhea	6	BeFree
umls:C3714534	dowling-degos disease	6	BeFree
umls:C0008521	Choroid Diseases	5	GAD
umls:C0011991	Diarrhea	5	BeFree
umls:C0020538	Hypertensive disease	5	BeFree,GAD,LHGDN
umls:C0027051	Myocardial Infarction	5	BeFree,GAD,LHGDN
umls:C0035309	Retinal Diseases	5	BeFree,GAD
umls:C0035312	Retinal Drusen	5	BeFree,GAD,LHGDN
umls:C0085096	Peripheral Vascular Diseases	5	GAD
umls:C0243026	Sepsis	5	BeFree,RGD
umls:C0730295	BASAL LAMINAR DRUSEN (disorder)	5	BeFree,CLINVAR,CTD_human
umls:C1268935	Congenital Thrombotic Thrombocytopenic Purpura	5	BeFree
umls:C1956346	Coronary Artery Disease	5	BeFree,GAD
umls:C0002395	Alzheimer's Disease	4	BeFree,GAD,LHGDN
umls:C0002878	Anemia, Hemolytic	4	BeFree
umls:C0003850	Arteriosclerosis	4	BeFree
umls:C0003873	Rheumatoid Arthritis	4	BeFree
umls:C0007222	Cardiovascular Diseases	4	BeFree,GAD,LHGDN
umls:C0022660	Kidney Failure, Acute	4	BeFree
umls:C0026846	Muscular Atrophy	4	BeFree
umls:C0026850	Muscular Dystrophy	4	BeFree
umls:C0028754	Obesity	4	BeFree
umls:C0035078	Kidney Failure	4	BeFree
umls:C0036690	Septicemia	4	BeFree
umls:C0242379	Malignant neoplasm of lung	4	BeFree,GAD
umls:C0268731	Renal glomerular disease	4	BeFree
umls:C2931268	Scapuloperoneal myopathy	4	BeFree
umls:C0001733	Afibrinogenemia	3	BeFree
umls:C0004610	Bacteremia	3	BeFree
umls:C0007131	Non-Small Cell Lung Carcinoma	3	BeFree
umls:C0011847	Diabetes	3	BeFree
umls:C0011849	Diabetes Mellitus	3	BeFree
umls:C0015397	Disorder of eye	3	BeFree,LHGDN
umls:C0024623	Malignant neoplasm of stomach	3	BeFree
umls:C0035304	Retinal Degeneration	3	BeFree,GAD,RGD
umls:C0042165	Anterior uveitis	3	BeFree
umls:C0085635	Photopsia	3	BeFree
umls:C0151514	Atrophic condition of skin	3	BeFree
umls:C0221021	Microangiopathic hemolytic anemia	3	BeFree
umls:C0235618	Proliferative glomerulonephritis	3	BeFree
umls:C0240805	Prodrome	3	BeFree
umls:C0684249	Carcinoma of lung	3	BeFree
umls:C0699791	Stomach Carcinoma	3	BeFree
umls:C0701807	Acute anterior uveitis	3	BeFree
umls:C0730362	Disorder of macula of retina	3	BeFree
umls:C0878544	Cardiomyopathies	3	BeFree
umls:C0948008	Ischemic stroke	3	BeFree,GAD
umls:C1720452	Soft drusen	3	BeFree,GAD
umls:C3665346	Unspecified visual loss	3	BeFree
umls:C0005684	Malignant neoplasm of urinary bladder	2	BeFree,GAD
umls:C0007102	Malignant tumor of colon	2	BeFree
umls:C0011311	Dengue Fever	2	BeFree
umls:C0011860	Diabetes Mellitus, Non-Insulin-Dependent	2	BeFree,GAD
umls:C0011884	Diabetic Retinopathy	2	BeFree
umls:C0017665	Membranous glomerulonephritis	2	BeFree,LHGDN,RGD
umls:C0019693	HIV Infections	2	BeFree
umls:C0020445	Hypercholesterolemia, Familial	2	BeFree,GAD
umls:C0021053	Immune System Diseases	2	BeFree
umls:C0021368	Inflammation	2	GAD
umls:C0023343	Leprosy	2	BeFree
umls:C0023434	Chronic Lymphocytic Leukemia	2	BeFree
umls:C0024530	Malaria	2	BeFree
umls:C0030552	Paresis	2	BeFree
umls:C0031094	Periodontal Pocket	2	BeFree
umls:C0033578	Prostatic Neoplasms	2	GAD
umls:C0038454	Cerebrovascular accident	2	BeFree,RGD
umls:C0042164	Uveitis	2	BeFree
umls:C0042167	Uveitis, Posterior	2	BeFree
umls:C0151565	Hemorrhagic colitis	2	BeFree
umls:C0151786	Muscle Weakness	2	BeFree
umls:C0155765	Disease of capillaries	2	BeFree
umls:C0162739	HELLP Syndrome	2	BeFree,LHGDN
umls:C0333641	Atrophic	2	LHGDN
umls:C0410180	Eichsfeld type congenital muscular dystrophy	2	BeFree
umls:C0524851	Neurodegenerative Disorders	2	BeFree
umls:C0678222	Breast Carcinoma	2	BeFree
umls:C0699790	Colon Carcinoma	2	BeFree
umls:C0730314	Chronic central serous chorioretinopathy	2	BeFree
umls:C0948264	Neuroborreliosis	2	BeFree
umls:C1268937	Diarrhea-negative hemolytic uremic syndrome	2	BeFree
umls:C1533060	Multifocal choroiditis	2	BeFree
umls:C2239176	Liver carcinoma	2	BeFree
umls:C2678065	Myofibrillar Myopathy	2	BeFree
umls:C3272363	Ischemic Cerebrovascular Accident	2	BeFree
umls:C3463916	Complement Factor I (C3 inactivator) deficiency	2	BeFree
umls:C0001418	Adenocarcinoma	1	BeFree
umls:C0001430	Adenoma	1	BeFree
umls:C0002871	Anemia	1	BeFree
umls:C0002992	Angiomatosis	1	GAD
umls:C0004135	Ataxia Telangiectasia	1	GAD
umls:C0004364	Autoimmune Diseases	1	BeFree
umls:C0004623	Bacterial Infections	1	BeFree
umls:C0007134	Renal Cell Carcinoma	1	BeFree
umls:C0007273	Carotid Artery Diseases	1	GAD
umls:C0008149	Chlamydia Infections	1	GAD
umls:C0008526	Choroiditis	1	GAD
umls:C0009375	Colonic Neoplasms	1	LHGDN
umls:C0011854	Diabetes Mellitus, Insulin-Dependent	1	GAD
umls:C0011881	Diabetic Nephropathy	1	GAD
umls:C0013264	Muscular Dystrophy, Duchenne	1	BeFree
umls:C0014335	Enteritis	1	BeFree
umls:C0016867	Furunculosis	1	GAD
umls:C0017563	Gingival Diseases	1	BeFree
umls:C0017636	Glioblastoma	1	BeFree
umls:C0017638	Glioma	1	BeFree
umls:C0017668	Focal glomerulosclerosis	1	BeFree
umls:C0018081	Gonorrhea	1	BeFree
umls:C0019569	Hirschsprung Disease	1	BeFree
umls:C0020542	Pulmonary Hypertension	1	BeFree
umls:C0021051	Immunologic Deficiency Syndromes	1	CTD_human
umls:C0021390	Inflammatory Bowel Diseases	1	GAD
umls:C0021400	Influenza	1	BeFree
umls:C0022354	Jaundice, Obstructive	1	RGD
umls:C0022602	Actinic keratosis	1	BeFree
umls:C0023530	Leukopenia	1	BeFree
umls:C0023895	Liver diseases	1	BeFree
umls:C0024117	Chronic Obstructive Airway Disease	1	GAD
umls:C0024143	Lupus Nephritis	1	BeFree
umls:C0024305	Lymphoma, Non-Hodgkin	1	GAD
umls:C0025294	Meningococcal meningitis	1	BeFree
umls:C0025517	Metabolic Diseases	1	BeFree
umls:C0026470	Monoclonal Gammopathy of Undetermined Significance	1	BeFree
umls:C0026769	Multiple Sclerosis	1	BeFree
umls:C0027092	Myopia	1	BeFree
umls:C0027121	Myositis	1	BeFree
umls:C0027697	Nephritis	1	BeFree
umls:C0027706	Hereditary nephritis	1	GAD
umls:C0027720	Nephrosis	1	RGD
umls:C0027947	Neutropenia	1	BeFree
umls:C0028326	Noonan Syndrome	1	BeFree
umls:C0030343	Panuveitis	1	BeFree
umls:C0030567	Parkinson Disease	1	GAD
umls:C0031090	Periodontal Diseases	1	BeFree
umls:C0032914	Pre-Eclampsia	1	GAD
umls:C0032927	Precancerous Conditions	1	BeFree
umls:C0033626	Protein Deficiency	1	BeFree
umls:C0033687	Proteinuria	1	RGD
umls:C0033847	Pseudoxanthoma Elasticum	1	BeFree,GAD
umls:C0035021	Relapsing Fever	1	BeFree
umls:C0035022	Tick-borne relapsing fever	1	BeFree
umls:C0035126	Reperfusion Injury	1	RGD
umls:C0035320	Retinal Neovascularization	1	GAD
umls:C0035344	Retinopathy of Prematurity	1	GAD
umls:C0035412	Rhabdomyosarcoma	1	BeFree
umls:C0036117	Salmonella infections	1	BeFree
umls:C0036202	Sarcoidosis	1	BeFree
umls:C0036830	Serum Sickness	1	BeFree
umls:C0036982	Shock, Hemorrhagic	1	RGD
umls:C0037274	Dermatologic disorders	1	BeFree
umls:C0038160	Staphylococcal Infections	1	GAD
umls:C0040034	Thrombocytopenia	1	LHGDN
umls:C0040038	Thromboembolism	1	BeFree
umls:C0085435	Arthritis, Reactive	1	BeFree
umls:C0085648	Synovial Cyst	1	BeFree
umls:C0149925	Small cell carcinoma of lung	1	BeFree
umls:C0151744	Myocardial Ischemia	1	GAD
umls:C0152013	Adenocarcinoma of lung (disorder)	1	BeFree
umls:C0152171	Idiopathic pulmonary hypertension	1	BeFree
umls:C0234958	Muscle degeneration	1	BeFree
umls:C0235031	Neurologic Symptoms	1	BeFree
umls:C0236733	Amphetamine-Related Disorders	1	RGD
umls:C0242301	furuncle	1	BeFree
umls:C0242966	Systemic Inflammatory Response Syndrome	1	BeFree,GAD
umls:C0260037	Multiple tumors	1	BeFree
umls:C0265910	Congenital hypoplasia of pulmonary artery	1	BeFree
umls:C0268750	Necrotizing glomerulonephritis	1	BeFree
umls:C0270960	Congenital myopathy (disorder)	1	BeFree
umls:C0271083	Nonexudative age-related macular degeneration	1	BeFree
umls:C0272241	Complement abnormality	1	BeFree
umls:C0302358	Disease caused by Shigella dysenteriae	1	BeFree
umls:C0343381	Verotoxigenic Escherichia coli gastrointestinal tract infection	1	BeFree
umls:C0398677	Ocular sarcoidosis	1	BeFree
umls:C0398762	Properdin deficiency disease	1	BeFree
umls:C0403411	Endocapillary glomerulonephritis	1	BeFree
umls:C0410158	Muscle damage	1	BeFree
umls:C0456909	Blind Vision	1	GAD
umls:C0494165	Secondary malignant neoplasm of liver	1	BeFree
umls:C0553723	Squamous cell carcinoma of skin	1	BeFree
umls:C0596263	Carcinogenesis	1	BeFree
umls:C0600139	Prostate carcinoma	1	BeFree
umls:C0677932	Progressive Neoplastic Disease	1	BeFree
umls:C0740391	Middle Cerebral Artery Occlusion	1	BeFree
umls:C0744972	HIV nephropathy	1	BeFree
umls:C0751075	Cancer of Digestive System	1	BeFree
umls:C0751356	Idiopathic Inflammatory Myopathies	1	BeFree
umls:C0877009	Muscle fibrosis	1	BeFree
umls:C0887976	Chlamydophila Infections	1	GAD
umls:C1136085	Monoclonal Gammapathies	1	BeFree
umls:C1258666	Myxoid cyst	1	BeFree
umls:C1319200	Postoperative confusion	1	BeFree
umls:C1378703	Renal carcinoma	1	BeFree
umls:C1408247	Renal disease (acute) NOS	1	BeFree
umls:C1561643	Chronic Kidney Diseases	1	BeFree
umls:C1567741	Alport Syndrome	1	BeFree
umls:C1567742	Alport Syndrome, X-Linked	1	BeFree
umls:C1853147	MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	1	CLINVAR,CTD_human,MGD,UNIPROT
umls:C1956258	Familial Thrombotic Thrombocytopenic Purpura	1	BeFree
umls:C2237660	exudative macular degeneration	1	GAD
umls:C2931876	Hirschsprung disease 1	1	BeFree
umls:C3203102	Idiopathic pulmonary arterial hypertension	1	BeFree
umls:C3241937	Nonalcoholic Steatohepatitis	1	BeFree
umls:C3539781	Progressive cGVHD	1	BeFree
umls:C3714514	Infection	1	LHGDN
umls:C0268742	Membranoproliferative Glomerulonephritis, Type I	0	ORPHANET
umls:C1720821	Membranoproliferative Glomerulonephritis, Type III	0	ORPHANET