TissGDB

Home

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

TissGeneSummary for CFTR

Gene summary

Basic gene information	Gene symbol	CFTR
	Gene name	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
	Synonyms	ABC35\|ABCC7\|CF\|CFTR/MRP\|MRP7\|TNR-CFTR\|dJ760C5.1
	Cytomap	UCSC genome browser: 7q31.2
	Type of gene	protein-coding
	RefGenes	NM_000492.3,
	Description	cAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulator
	Modification date	20141222
dbXrefs	MIM : 602421
	HGNC : HGNC
	Ensembl : ENSG00000001626
	HPRD : 03883
	Vega : OTTHUMG00000023076
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CFTR
	BioGPS: 1080
Pathway	NCI Pathway Interaction Database: CFTR
	KEGG: CFTR
	REACTOME: CFTR
	Pathway Commons: CFTR
Context	iHOP: CFTR
	ligand binding site mutation search in PubMed: CFTR
	UCL Cancer Institute: CFTR
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)	ColonPancreas
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)	COADPAAD
Reference showing the relevant tissue of CFTR
Description by TissGene annotations	Cancer gene

* 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
GO:1902476	chloride transmembrane transport	18570918
GO:1902943	positive regulation of voltage-gated chloride channel activity	22006324
GO:1902476	chloride transmembrane transport	18570918
GO:1902943	positive regulation of voltage-gated chloride channel activity	22006324

Top

TissGeneExp for CFTR

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
KIRC	-2.141632157	2.010088676	-4.151720833	1.06E-20	8.93E-20
KIRP	-0.938895352	2.078326523	-3.017221875	1.18E-05	4.85E-05
LUAD	3.793332019	6.332083743	-2.538751724	7.15E-10	3.84E-09
HNSC	-1.004719625	3.522726887	-4.527446512	6.11E-13	2.50E-11
KICH	8.704473398	1.575637398	7.128836	1.57E-12	1.80E-11
LUSC	1.845847908	6.28337732	-4.437529412	1.71E-18	1.65E-17
BRCA	-1.450164321	0.140915504	-1.591079825	3.52E-10	1.32E-09
LIHC	-0.719420602	4.492877398	-5.212298	4.88E-13	1.06E-11
THCA	-0.887787619	-1.891474059	1.003686441	0.000772	0.001849792

Top

TissGene-miRNA for CFTR

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

Top

TissGeneMut for CFTR

TissGeneSNV for CFTR

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.K464N	KIRC	10
p.Q237*	SKCM	4
p.S495F	SKCM	3
p.S912L	SKCM	3
p.G1069R	SKCM	2
p.D1275N	SKCM	2
p.R764Q	SKCM	2
p.Q237X	SKCM	2
p.S511F	SKCM	2
p.A789S	UCEC	2
p.P1332S	SKCM	2
p.G330E	SKCM	2
p.R1066C	SKCM	2
p.G971E	SKCM	2
p.E583K	SKCM	2
p.E826K	SKCM	2
p.V97L	LUAD	1
p.I860L	STAD	1
p.S489L	SKCM	1
p.S1362N	PAAD	1
p.N1088S	SKCM	1
p.E1433Q	BLCA	1
p.A1146D	LGG	1
p.D835V	LIHC	1
p.G1247A	BLCA	1
p.L541I	UCEC	1
p.R242K	SKCM	1
p.F83L	ACC	1
p.Q493P	STAD	1
p.D58N	SKCM	1
p.G149E	SKCM	1
p.Q372*	BLCA	1
p.K464*	BRCA	1
p.S53*	BRCA	1
p.A1113S	ESCA	1
p.D1312N	SKCM	1
p.L1253S	BRCA	1
p.F992S	STAD	1
p.P798L	SKCM	1
p.W846*	LUAD	1
p.V171F	BLCA	1
p.F508I	ESCA	1
p.L883F	COAD	1
p.T360R	GBM	1
p.E621K	SKCM	1
p.L889V	BLCA	1
p.D373N	SKCM	1
p.I119M	LUSC	1
p.R764X	COAD	1
p.S1196*	UCEC	1
p.E116K	LUAD	1
p.P324S	SKCM	1
p.L130I	HNSC	1
p.I869V	KIRP	1
p.I918N	LIHC	1
p.A554E	READ	1
p.D979N	SKCM	1
p.H775Y	UCEC	1
p.F78S	SARC	1
p.G1127A	LUSC	1
p.Y109C	STAD	1
p.H1375Y	SKCM	1
p.E92V	STAD	1
p.P1451S	SKCM	1
p.S321F	SKCM	1
p.R658K	SKCM	1
p.D1152H	COAD	1
p.G500V	THYM	1
p.E681D	HNSC	1
p.D1425Y	BRCA	1
p.S1235I	HNSC	1
p.D565H	BLCA	1
p.E407V	KICH	1
p.W57C	LUAD	1
p.R1066H	STAD	1
p.F976L	COAD	1
p.M82K	HNSC	1
p.K1461N	LUSC	1
p.M82L	SKCM	1
p.W496*	SKCM	1
p.E1104*	CESC	1
p.E831Q	LUAD	1
p.I947S	STAD	1
p.L541I	HNSC	1
p.W846L	ESCA	1
p.A1031T	READ	1
p.S459F	SKCM	1
p.A204T	SARC	1
p.L644P	BLCA	1
p.S108Y	OV	1
p.A1113V	UCEC	1
p.K716N	KIRC	1
p.G1265*	SKCM	1
p.Q378R	STAD	1
p.P841L	SARC	1
p.I37M	UCEC	1
p.T1216K	LUAD	1
p.D1201E	LUAD	1
p.I530F	LUAD	1
p.P1443L	SKCM	1
p.T164A	KIRP	1
p.L130V	BLCA	1
p.E588*	HNSC	1
p.V580I	UCEC	1
p.S955F	SKCM	1
p.Y380C	BLCA	1
p.M721I	BLCA	1
p.D567N	READ	1
p.P355L	SKCM	1
p.L137F	UCEC	1
p.E608G	SKCM	1
p.D727N	SKCM	1
p.F932L	BLCA	1
p.G1265R	SKCM	1
p.G103E	LUSC	1
p.L235P	LIHC	1
p.L1335H	SARC	1
p.L100R	SKCM	1
p.A523T	SKCM	1
p.D1201Y	KIRP	1
p.E585K	SKCM	1
p.T774I	HNSC	1
p.S1456I	LUSC	1
p.M244I	STAD	1
p.L568F	SKCM	1
p.E116D	PAAD	1
p.D741N	SKCM	1
p.V520I	UCEC	1
p.E403K	SKCM	1
p.D1425N	SKCM	1
p.L365P	LUSC	1
p.L129H	SKCM	1
p.F976L	ESCA	1
p.A367T	KIRC	1
p.E873Q	BLCA	1
p.A1025T	PAAD	1
p.E681X	CHOL	1
p.A399T	PRAD	1
p.L987P	BLCA	1
p.D1214N	HNSC	1
p.Q762*	CESC	1
p.K162*	SKCM	1
p.K503R	SARC	1
p.E395K	SKCM	1
p.S364C	STAD	1
p.S557Y	UCEC	1
p.D565N	LGG	1
p.W361C	THCA	1
p.L184F	SKCM	1
p.D112A	KIRC	1
p.M243I	LUSC	1
p.S1235R	BLCA	1
p.P205S	SKCM	1
p.S631P	LGG	1
p.V470M	COAD	1
p.W57*	SKCM	1
p.R1283K	SKCM	1
p.P355S	SKCM	1
p.A238T	ESCA	1
p.Q890*	SKCM	1
p.Q552E	ESCA	1
p.S271F	SKCM	1
p.G921E	SKCM	1
p.M1157L	BRCA	1
p.R553P	BRCA	1
p.L167P	BLCA	1
p.G542R	SKCM	1
p.E292*	UCEC	1
p.A747V	UCEC	1
p.G576R	SKCM	1
p.R516I	THYM	1
p.R1446K	SKCM	1
p.E585X	UCS	1
p.L235R	SKCM	1
p.R334W	SKCM	1
p.R1422W	GBM	1
p.S1255L	BLCA	1
p.E279K	SKCM	1
p.W1089C	LUAD	1
p.L998V	SKCM	1
p.G241E	SKCM	1
p.E1172K	LGG	1
p.R764*	STAD	1
p.E585*	UCEC	1
p.E535D	COAD	1
p.S977T	SARC	1
p.H146Y	SKCM	1
p.S1460F	SKCM	1
p.R764X	STAD	1
p.L957F	COAD	1
p.R709Q	SKCM	1
p.Q890X	SKCM	1
p.I860S	STAD	1
p.W1145C	THYM	1
p.F916Y	LIHC	1
p.A1374V	LGG	1
p.P1306L	SKCM	1
p.P140L	LUAD	1
p.S1255*	LUAD	1
p.A357V	SKCM	1
p.M284I	HNSC	1
p.E1104X	COAD	1
p.E585*	UCS	1
p.G1127E	SKCM	1
p.T1076N	COAD	1
p.T760M	PRAD	1
p.R347C	UCEC	1
p.E725K	CESC	1
p.R134G	HNSC	1
p.V868I	HNSC	1
p.E822K	BLCA	1
p.G1047D	SKCM	1
p.S712F	BLCA	1
p.S557F	SKCM	1
p.T990N	HNSC	1
p.F1413Y	SKCM	1
p.E1418D	READ	1
p.E449Q	BRCA	1
p.R1158Q	SKCM	1
p.S1297C	STAD	1
p.K1317T	HNSC	1
p.R297Q	BRCA	1
p.S492F	SKCM	1
p.L578V	LUAD	1
p.T1115A	CESC	1
p.M243I	SKCM	1
p.D112N	SKCM	1

Top

TissGeneCNV for CFTR

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)

Top

TissGeneFusions for CFTR

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	TopHat-Fusion	BRCA	TCGA-AC-A2QH-01B	CAPZA2-CFTR	Out-of-Frame	chr7:116552193	chr7:117133981
Chimerdb3.0	TopHat-Fusion	BRCA	TCGA-AC-A2QH-01B	CAPZA2-CFTR	Out-of-Frame	chr7:116552193	chr7:117137596
Chimerdb3.0	TopHat-Fusion	BRCA	TCGA-AC-A2QH-01B	CAPZA2-CFTR	Out-of-Frame	chr7:116552193	chr7:117137734
TCGAfusionPortal	PRADA	BRCA	TCGA-AC-A2QH-01A	ELP4-CFTR	In-frame	Chr11:31616448	Chr7:117170953

Top

TissGeneNet for CFTR

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)
CFTR, EZR, CDH1, PDZK1, PRKACA, SLC9A3R1, VAMP8, HSPA5, VDR, PTBP1, RAB27A, TJP3, MYO5B, LMO7, SEC61A1, LPAR2, VTI1B, SLC4A7, TIAM1, SLC4A8, SLC9A2 (tumor)	CFTR, S100A9, PRKCA, AMFR, LGALS3, BCR, SLC9A3R1, SRF, NFE2L2, PRKAA1, KCNJ1, PBX1, WFS1, TIA1, HSPA1L, S100A7, FAT1, RCN1, SLC9A6, SLC9A2, SLC26A9 (normal)

COAD (tumor)	COAD (normal)
CFTR, PRKCA, FLNA, NEDD4, PRKACA, SRF, FAM120A, HSPB1, TMOD3, PRKG1, RYR2, PBX1, ANXA5, CDX2, WFS1, LGALS4, LPAR2, CUX2, LIMA1, SFXN3, SLC9A2 (tumor)	CFTR, CDH1, CSE1L, B3GNT9, HNF1A, HSPA5, VDR, PDZD3, UBB, HCLS1, AIFM1, RAB27A, LMNA, TJP3, ANXA5, CDX2, IPO7, JKAMP, DNAJC5, SLC26A3, SLC26A9 (normal)

HNSC (tumor)	HNSC (normal)
CFTR, S100A9, VCP, HSPA4, RAB4A, TCEB1, PPP2R1A, B3GNT9, SNX4, CANX, PSMD2, HSPB1, PRKAA1, RYK, LMNA, PBX1, SNAP23, JKAMP, TIAM1, SLC9A2, C6orf48 (tumor)	CFTR, UBC, CTCF, PRKCE, UBE3A, VDR, NFE2L2, PSME2, RYK, RYR2, CLCN3, LMNA, PBX1, TJP3, GRN, MYO5B, TIA1, CLINT1, RCN2, SFXN3, SLC9A2 (normal)

KICH (tumor)	KICH (normal)
CFTR, PDZK1, AMFR, SLC9A3R1, HNF1A, CANX, VDR, PDZD3, PRKAA1, PRKG1, RAB27A, HSPA1L, LMO7, LPAR2, SEC61A2, HSPA2, LIMA1, CLINT1, SLC4A7, SFXN3, SLC4A8 (tumor)	CFTR, DNAJB1, EMD, COMMD1, ADRB2, AMFR, LGALS3, HSP90AA1, PRKCE, AHSA1, VDR, TPM3, RNF5, RAB11A, KCNJ1, LMNA, GNA11, SEC61A2, DNAJA2, LIMA1, PSAP (normal)

KIRC (tumor)	KIRC (normal)
CFTR, PDZK1, PDCD6, AMFR, SLC9A3R1, HNF1A, VDR, PDZD3, PRKG1, TJP1, HSPA1L, LPAR2, SEC61A2, HSPA2, DNAJC5, CLINT1, SLC4A7, SFXN3, SLC4A8, SLC36A1, SLC26A9 (tumor)	CFTR, NEDD4, PDZK1, AMFR, LGALS3, BCR, HSP90AA1, B3GNT9, AHSA1, HNF1A, PDZD3, RAB5A, HCLS1, RAB11A, TJP3, GNA11, VTI1B, LIMA1, SFXN3, FAT1, SLC9A2 (normal)

KIRP (tumor)	KIRP (normal)
CFTR, EZR, PRKCA, CSE1L, AMFR, CANX, VDR, PDZD3, PRKG1, NFYC, RNF5, TJP1, WFS1, LMO7, SEC61A2, HSPA2, SLC4A7, SFXN3, FAT1, SLC4A8, SLC9A2 (tumor)	CFTR, HSP90AB1, ADRB2, PDCD6, LGALS3, BCAP31, GNB2L1, RAB5A, HSPB1, PRKG1, KCNJ1, RAB27A, GNA11, HSPA1L, LMO7, HSPA2, LIMA1, SFXN3, SLC26A3, SLC4A8, SLC36A1 (normal)

LIHC (tumor)	LIHC (normal)
CFTR, CREB1, HSPA4, FLNA, LGALS3, B3GNT9, VDR, UBB, TJP1, RYR2, PBX1, ANXA5, CAPRIN1, LPAR2, ADCY8, TRIP12, LIMA1, SLC4A7, SFXN3, FAT1, SLC36A1 (tumor)	CFTR, CDH1, FLNA, CBL, LGALS3, B3GNT9, RYK, PRKG1, APOA2, RYR2, PBX1, TJP3, ANXA5, LPAR2, WSB1, LIMA1, SLC4A7, SFXN3, TMEM43, CALU, SLC26A9 (normal)

LUAD (tumor)	LUAD (normal)
CFTR, S100A9, HSPA4, FLNA, HNF1A, VDR, PDZD3, HSPB1, HSPA9, HCLS1, AIFM1, RAB27A, WFS1, HSPA1L, LGALS4, HSPA2, CSTB, PSAP, CLINT1, SFXN3, TMEM43 (tumor)	CFTR, ADRB2, YY1, CSE1L, KPNB1, EXO1, XPO1, PRKCE, AHSA1, PSMD2, TPM3, PRKAA1, HSPD1, PTBP1, RYR2, RAB27A, LGALS4, CUX2, CLINT1, CALU, SLC26A9 (normal)

LUSC (tumor)	LUSC (normal)
CFTR, USP19, EMD, FLNA, VDR, GNB2L1, HAX1, PRKG1, RYR2, RAB27A, PBX1, LGALS4, SEC61A2, VTI1B, CSTB, DERL1, STX8, CLINT1, SFXN3, TIAM1, SLC4A8 (tumor)	CFTR, S100A9, EZR, HSP90AB1, ADRB2, LGALS3, KPNB1, EXO1, HSPA1B, PRKCE, AHSA1, VAMP8, PRKAA1, HCLS1, SLC9A3R2, KCNJ1, RAB27A, TJP3, SNAP23, LMO7, SLC26A9 (normal)

PRAD (tumor)	PRAD (normal)
CFTR, TFG, CLCA1, S100A9, ADRB2, PRKACA, LGALS3, EXO1, SNX4, RAB5A, HCLS1, APOA2, KCNJ1, WFS1, HSPA1L, SEC61B, LIMA1, SLC26A3, TMEM43, RCN1, SLC26A9 (tumor)	CFTR, S100A9, FLNA, LGALS3, TCEB1, B3GNT9, AHSA1, VDR, NFE2L2, HSPD1, HCLS1, KCNJ1, LMNA, PBX1, TJP3, LIMA1, SFXN3, TIAM1, TMEM43, SLC4A8, SLC26A9 (normal)

STAD (tumor)	STAD (normal)
CFTR, CDH1, LGALS3, HNF1A, VAMP8, VDR, TPM3, PDZD3, PSME2, RYK, AIFM1, TJP3, CDX2, MYO5B, IPO7, LGALS4, SEC61A2, HSPA2, LIMA1, TMEM43, SLC9A2 (tumor)	CFTR, CDH1, PDZK1, LGALS3, SLC9A3R1, PRKCE, HNF1A, VDR, GNB2L1, PDZD3, CLCN3, TJP3, CDX2, MYO5B, LGALS4, LIMA1, SLC26A8, SLC26A3, FAT1, SLC9A2, C6orf48 (normal)

THCA (tumor)	THCA (normal)
CFTR, SLC9A3R1, STUB1, PSMA3, VAMP8, UBE3A, SNX4, TPM3, NFE2L2, PSME2, PRKAA1, RYK, PRKG1, AIFM1, TJP1, RYR2, PBX1, CDX2, LMO7, SEC61B, FAT1 (tumor)	CFTR, S100A9, FLNA, LGALS3, B3GNT9, HNF1A, SNX4, HSPA5, TPM3, TMOD3, PRKG1, NFYC, SLC9A3R2, LMO7, ADCY8, CUX2, LIMA1, PSAP, SFXN3, TIAM1, TMEM43 (normal)

Top

TissGeneProg for CFTR

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.

Top

TissGeneClin for CFTR

TissGeneDrug for CFTR

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

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

TissGeneDisease for CFTR

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

Disease ID	Disease name	# pubmeds	Source
umls:C0010674	Cystic Fibrosis	1178	BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
umls:C0403814	Congenital bilateral aplasia of vas deferens	95	BeFree,CLINVAR,CTD_human,GAD,ORPHANET,UNIPROT
umls:C0024115	Lung diseases	74	BeFree,GAD,LHGDN
umls:C0149521	Pancreatitis, Chronic	66	BeFree,CTD_human,GAD,LHGDN
umls:C0030305	Pancreatitis	64	BeFree,CTD_human,GAD,LHGDN
umls:C0021364	Male infertility	41	BeFree,CTD_human,GAD
umls:C0004509	Azoospermia	34	BeFree,CTD_human,GAD
umls:C0267963	Exocrine pancreatic insufficiency	25	BeFree,GAD
umls:C0004096	Asthma	20	BeFree,GAD
umls:C0341471	Idiopathic chronic pancreatitis	19	BeFree
umls:C0747198	pancreatitis idiopathic	18	BeFree
umls:C0028960	Oligospermia	17	BeFree,GAD
umls:C0030293	Pancreatic Insufficiency	16	BeFree
umls:C0006267	Bronchiectasis	15	BeFree,CLINVAR,GAD
umls:C0024117	Chronic Obstructive Airway Disease	15	BeFree,GAD,LHGDN
umls:C0376670	Pancreatitis, Alcoholic	13	BeFree,GAD
umls:C0876973	Infectious disease of lung	12	BeFree
umls:C0001339	Acute pancreatitis	11	BeFree
umls:C0004623	Bacterial Infections	11	BeFree,GAD
umls:C0027430	Nasal Polyps	11	BeFree,GAD,LHGDN
umls:C0033817	Pseudomonas Infections	10	BeFree,GAD
umls:C0235974	Pancreatic carcinoma	9	BeFree
umls:C0346647	Malignant neoplasm of pancreas	9	BeFree,GAD
umls:C0566602	Primary sclerosing cholangitis	9	BeFree
umls:C0008313	Cholangitis, Sclerosing	8	BeFree,GAD,LHGDN
umls:C0032285	Pneumonia	8	BeFree
umls:C0270246	Meconium plug syndrome	8	BeFree
umls:C0546982	Cystic fibrosis with meconium ileus	8	BeFree
umls:C0854135	Pseudomonas aeruginosa infection	8	BeFree
umls:C2939175	Meconium ileus	8	BeFree
umls:C0037199	Sinusitis	7	BeFree,CTD_human,GAD
umls:C0266270	Pancreas divisum	7	BeFree,GAD
umls:C0266444	Congenital absence of vas deferens	7	BeFree
umls:C0281361	Adenocarcinoma of pancreas	7	BeFree
umls:C0004031	Aspergillosis, Allergic Bronchopulmonary	6	BeFree
umls:C0008677	Bronchitis, Chronic	6	BeFree
umls:C0011175	Dehydration	6	BeFree
umls:C0011991	Diarrhea	6	BeFree
umls:C0030286	Pancreatic Diseases	6	BeFree,GAD,LHGDN
umls:C0085413	Polycystic Kidney, Autosomal Dominant	6	BeFree,GAD,LHGDN
umls:C0149516	Chronic sinusitis	6	BeFree
umls:C0699790	Colon Carcinoma	6	BeFree
umls:C0022680	Polycystic Kidney Diseases	5	BeFree
umls:C0023895	Liver diseases	5	BeFree,GAD
umls:C0267937	Acute recurrent pancreatitis	5	BeFree
umls:C0392164	Pulmonary Cystic Fibrosis	5	BeFree
umls:C0524620	Metabolic Syndrome X	5	BeFree
umls:C3714514	Infection	5	GAD,LHGDN
umls:C0001418	Adenocarcinoma	4	BeFree,GAD,LHGDN
umls:C0006277	Bronchitis	4	BeFree
umls:C0008354	Cholera	4	BeFree
umls:C0010709	Cyst	4	BeFree,LHGDN
umls:C0011849	Diabetes Mellitus	4	BeFree
umls:C0021400	Influenza	4	BeFree
umls:C0024523	Malabsorption Syndrome	4	BeFree
umls:C0035243	Respiratory Tract Infections	4	BeFree,GAD
umls:C0035455	Rhinitis	4	CTD_human,GAD
umls:C0036202	Sarcoidosis	4	BeFree,GAD
umls:C0037090	Signs and Symptoms, Respiratory	4	BeFree
umls:C0042063	Urogenital Abnormalities	4	GAD
umls:C0162429	Malnutrition	4	BeFree
umls:C0238339	Hereditary pancreatitis	4	BeFree,CLINVAR
umls:C0242379	Malignant neoplasm of lung	4	BeFree,GAD
umls:C0375023	Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site	4	BeFree
umls:C0684249	Carcinoma of lung	4	BeFree
umls:C0746102	Chronic lung disease	4	BeFree
umls:C2936423	Echogenic Bowel	4	BeFree,GAD
umls:C0000768	Congenital Abnormality	3	BeFree
umls:C0001486	Adenovirus Infections	3	BeFree
umls:C0007131	Non-Small Cell Lung Carcinoma	3	BeFree
umls:C0011847	Diabetes	3	BeFree
umls:C0015230	Exanthema	3	BeFree
umls:C0017178	Gastrointestinal Diseases	3	BeFree,GAD,LHGDN
umls:C0030297	Pancreatic Neoplasm	3	GAD
umls:C0036868	Sex Chromosome Aberrations	3	GAD
umls:C0266292	Congenital anomaly of the kidney	3	BeFree
umls:C0267557	Secretory diarrhea	3	BeFree
umls:C0542519	Congenital absence of kidney	3	BeFree
umls:C0600260	Lung Diseases, Obstructive	3	BeFree
umls:C0699949	airway disease	3	BeFree
umls:C1527396	Fibrocystic Disease of Pancreas	3	BeFree
umls:C1567435	Polycystic Kidney - body part	3	BeFree
umls:C1609433	Congenital absence of kidneys syndrome	3	BeFree
umls:C2239176	Liver carcinoma	3	BeFree
umls:C0003873	Rheumatoid Arthritis	2	BeFree
umls:C0006142	Malignant neoplasm of breast	2	BeFree
umls:C0007847	Malignant tumor of cervix	2	BeFree
umls:C0008625	Chromosome Aberrations	2	GAD
umls:C0010417	Cryptorchidism	2	BeFree,GAD
umls:C0011854	Diabetes Mellitus, Insulin-Dependent	2	BeFree,GAD
umls:C0011860	Diabetes Mellitus, Non-Insulin-Dependent	2	BeFree,GAD
umls:C0012242	Digestive System Disorders	2	BeFree
umls:C0018273	Growth Disorders	2	GAD
umls:C0019693	HIV Infections	2	BeFree
umls:C0021368	Inflammation	2	LHGDN
umls:C0021390	Inflammatory Bowel Diseases	2	BeFree,GAD,LHGDN
umls:C0021831	Intestinal Diseases	2	BeFree
umls:C0022568	Keratitis	2	BeFree
umls:C0033578	Prostatic Neoplasms	2	BeFree,LHGDN
umls:C0034067	Pulmonary Emphysema	2	BeFree
umls:C0035235	Respiratory Syncytial Virus Infections	2	BeFree
umls:C0035242	Respiratory Tract Diseases	2	BeFree,GAD
umls:C0038238	Steatorrhea	2	GAD
umls:C0041466	Typhoid Fever	2	BeFree,GAD
umls:C0042769	Virus Diseases	2	BeFree
umls:C0085129	Bronchial Hyperreactivity	2	BeFree,GAD
umls:C0162565	Acute intermittent porphyria	2	BeFree
umls:C0220983	Metabolic alkalosis	2	BeFree
umls:C0221002	Hyperparathyroidism, Primary	2	BeFree,GAD
umls:C0221376	Hydrosalpinx (disease)	2	BeFree
umls:C0264408	Childhood asthma	2	BeFree
umls:C0267792	Hepatobiliary disease	2	BeFree
umls:C0302592	Cervix carcinoma	2	BeFree
umls:C0332910	bilateral agenesis	2	BeFree
umls:C0333133	Mucus cast	2	BeFree
umls:C0339985	Idiopathic bronchiectasis	2	BeFree,ORPHANET
umls:C0340238	Infectious disorder of bronchus	2	BeFree
umls:C0376358	Malignant neoplasm of prostate	2	BeFree,GAD
umls:C0600139	Prostate carcinoma	2	BeFree
umls:C0678222	Breast Carcinoma	2	BeFree
umls:C0729353	Subfertility	2	BeFree
umls:C0810032	Pancreatic disorders (not diabetes)	2	BeFree
umls:C0848332	Spots on skin	2	BeFree
umls:C1145670	Respiratory Failure	2	BeFree
umls:C1258215	Ileus	2	GAD
umls:C1335302	Pancreatic Ductal Adenocarcinoma	2	BeFree
umls:C1458155	Mammary Neoplasms	2	BeFree
umls:C2609129	Autoimmune pancreatitis	2	BeFree
umls:C0001883	Airway Obstruction	1	BeFree
umls:C0001973	Alcoholic Intoxication, Chronic	1	GAD
umls:C0002395	Alzheimer's Disease	1	LHGDN
umls:C0002793	Anaplasia	1	BeFree
umls:C0003130	Anoxia	1	LHGDN
umls:C0005684	Malignant neoplasm of urinary bladder	1	BeFree
umls:C0007095	Carcinoid Tumor	1	BeFree
umls:C0007137	Squamous cell carcinoma	1	BeFree
umls:C0008087	Child Nutrition Disorders	1	GAD
umls:C0008311	Cholangitis	1	BeFree
umls:C0008312	Primary biliary cirrhosis	1	BeFree
umls:C0008370	Cholestasis	1	RGD
umls:C0008628	Chromosome Deletion	1	GAD
umls:C0009080	Clubbed Fingers	1	BeFree
umls:C0009373	Colonic Diseases	1	GAD
umls:C0009402	Colorectal Carcinoma	1	BeFree
umls:C0009404	Colorectal Neoplasms	1	CTD_human
umls:C0010278	Craniosynostosis	1	BeFree
umls:C0010346	Crohn Disease	1	GAD,LHGDN
umls:C0011334	Dental caries	1	GAD
umls:C0013295	Duodenal Ulcer	1	RGD
umls:C0014175	Endometriosis	1	BeFree
umls:C0015403	Eye Infections	1	BeFree
umls:C0015929	Fetal Diseases	1	GAD
umls:C0016059	Fibrosis	1	LHGDN
umls:C0016169	pathologic fistula	1	GAD
umls:C0017205	Gaucher Disease	1	BeFree
umls:C0019284	Diaphragmatic Hernia	1	CTD_human
umls:C0020437	Hypercalcemia	1	BeFree
umls:C0020456	Hyperglycemia	1	GAD
umls:C0020473	Hyperlipidemia	1	GAD
umls:C0020517	Hypersensitivity	1	GAD
umls:C0020523	Immediate hypersensitivity	1	GAD
umls:C0021361	Female infertility	1	GAD
umls:C0021933	Intussusception	1	GAD
umls:C0022336	Creutzfeldt-Jakob disease	1	BeFree
umls:C0022521	Kartagener Syndrome	1	BeFree,LHGDN
umls:C0022735	Klinefelter Syndrome	1	GAD
umls:C0023015	Language Disorders	1	BeFree
umls:C0023892	Biliary cirrhosis	1	GAD
umls:C0023976	Long QT Syndrome	1	BeFree
umls:C0024623	Malignant neoplasm of stomach	1	BeFree
umls:C0024959	Maxillary Sinusitis	1	GAD
umls:C0025218	Chloasma	1	BeFree
umls:C0025268	Multiple Endocrine Neoplasia Type 2a	1	BeFree
umls:C0026847	Spinal Muscular Atrophy	1	BeFree
umls:C0026916	Mycobacterium avium-intracellulare Infection	1	BeFree
umls:C0026918	Mycobacterium Infections	1	GAD
umls:C0030389	Parainfluenza	1	BeFree
umls:C0030469	Paranasal Sinus Diseases	1	GAD
umls:C0032460	Polycystic Ovary Syndrome	1	BeFree
umls:C0032584	polyps	1	BeFree
umls:C0033677	Protein-Energy Malnutrition	1	GAD
umls:C0033774	Pruritus	1	BeFree
umls:C0034063	Pulmonary Edema	1	BeFree
umls:C0034069	Pulmonary Fibrosis	1	BeFree
umls:C0034072	Cor pulmonale	1	BeFree
umls:C0035204	Respiration Disorders	1	BeFree
umls:C0036205	Sarcoidosis, Pulmonary	1	GAD
umls:C0038160	Staphylococcal Infections	1	GAD
umls:C0040715	Chromosomal translocation	1	GAD
umls:C0085096	Peripheral Vascular Diseases	1	BeFree
umls:C0085548	Autosomal Recessive Polycystic Kidney Disease	1	RGD
umls:C0086942	Rous Sarcoma	1	BeFree
umls:C0149651	Clubbing	1	BeFree
umls:C0149725	Lower respiratory tract infection	1	BeFree
umls:C0151744	Myocardial Ischemia	1	RGD
umls:C0162309	Adrenoleukodystrophy	1	BeFree
umls:C0206698	Cholangiocarcinoma	1	BeFree
umls:C0221757	alpha 1-Antitrypsin Deficiency	1	GAD
umls:C0236969	Substance-Related Disorders	1	CTD_human
umls:C0238074	Chronic pulmonary heart disease	1	BeFree
umls:C0242656	Disease Progression	1	GAD
umls:C0267662	Congenital chloride diarrhea	1	BeFree
umls:C0268181	Lactose Intolerance, Adult Type	1	BeFree
umls:C0278996	Cancer of Head and Neck	1	GAD
umls:C0282677	Burkholderia Infections	1	GAD
umls:C0332853	Anastomosis	1	BeFree
umls:C0334299	Carcinoid tumor no ICD-O subtype	1	BeFree
umls:C0341439	Chronic liver disease	1	GAD
umls:C0342257	Complications of Diabetes Mellitus	1	GAD
umls:C0346648	Malignant tumor of exocrine pancreas	1	BeFree
umls:C0398349	Distal intestinal obstruction syndrome	1	BeFree
umls:C0403823	Asthenozoospermia	1	GAD
umls:C0423772	Cutaneous Fistula	1	GAD
umls:C0426576	Gastrointestinal symptom	1	BeFree
umls:C0494165	Secondary malignant neoplasm of liver	1	BeFree
umls:C0520933	Abnormal spermatogenesis	1	BeFree
umls:C0546817	Fluid overload	1	BeFree
umls:C0694549	Community acquired pneumonia	1	BeFree
umls:C0699791	Stomach Carcinoma	1	BeFree
umls:C0699885	Carcinoma of bladder	1	BeFree
umls:C0854076	Distal ileal obstruction syndrome	1	BeFree
umls:C0860006	Hypotonic dehydration	1	BeFree
umls:C1265792	Chronic emphysema	1	BeFree
umls:C1272641	Systemic arterial pressure	1	GAD
umls:C1290884	Inflammatory disorder	1	BeFree
umls:C1301752	Respiratory morbidity	1	BeFree
umls:C1302773	Low Grade Squamous Intraepithelial Neoplasia	1	BeFree
umls:C1384582	Primary testicular failure	1	BeFree
umls:C1527249	Colorectal Cancer	1	BeFree
umls:C1559072	Diaphoresis Adverse Event	1	BeFree
umls:C1842402	TROPICAL CALCIFIC PANCREATITIS	1	BeFree
umls:C1851945	DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	1	BeFree
umls:C1857231	LACTASE PERSISTENCE	1	BeFree
umls:C1956346	Coronary Artery Disease	1	BeFree
umls:C2350344	Chronic Lung Injury	1	BeFree
umls:C2718001	Protein Misfolding Disorders	1	BeFree
umls:C2733595	Pulmonary Mycobacterium avium complex infection	1	BeFree
umls:C2931038	Pancreatic carcinoma, familial	1	BeFree
umls:C2931404	Albright's hereditary osteodystrophy	1	BeFree
umls:C2936781	Generalized Myotonia of Thomsen	1	BeFree
umls:C2936858	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	1	GAD
umls:C3494506	Pseudohypoparathyroidism, Type Ia	1	BeFree
umls:C3539909	Allergic disposition	1	BeFree
umls:C3714509	Nutrition Disorders	1	GAD
umls:C2749757	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	0	CTD_human