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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for COL4A4
check button Gene summary
Basic gene informationGene symbolCOL4A4
Gene namecollagen, type IV, alpha 4
SynonymsCA44
CytomapUCSC genome browser: 2q35-q37
Type of geneprotein-coding
RefGenesNM_000092.4,
DescriptionCollagen IV, alpha-4 polypeptidecollagen alpha-4(IV) chaincollagen of basement membrane, alpha-4 chain
Modification date20141219
dbXrefs MIM : 120131
HGNC : HGNC
Ensembl : ENSG00000081052
HPRD : 00360
Vega : OTTHUMG00000149892
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_COL4A4
BioGPS: 1286
PathwayNCI Pathway Interaction Database: COL4A4
KEGG: COL4A4
REACTOME: COL4A4
Pathway Commons: COL4A4
ContextiHOP: COL4A4
ligand binding site mutation search in PubMed: COL4A4
UCL Cancer Institute: COL4A4
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)KidneyLiver
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)KIRC,KIRP,KICHLIHC
Reference showing the relevant tissue of COL4A4
Description by TissGene annotations
* 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.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID


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TissGeneExp for COL4A4

check button 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 exp


check button 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 isoform exp


check button 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.
normal gene exp


check button 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)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
BRCA-0.6493404840.48509899-1.1344394742.66E-099.27E-09
BLCA-1.241507151.793434955-3.0349421053.29E-068.41E-05
KIRP3.8603046925.177610942-1.317306251.13E-065.66E-06
KIRC2.9091880255.289618581-2.3804305563.41E-275.03E-26
LUSC0.5082336134.396347339-3.8881137253.01E-193.20E-18
LIHC-0.4145223081.057637692-1.472163.30E-061.59E-05
LUAD2.3856003814.565143485-2.1795431031.26E-151.37E-14


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TissGene-miRNA for COL4A4

check button 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 typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for COL4A4
TissGeneSNV for COL4A4

check button 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.
SNV lollipop
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check button 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)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.G1204ESKCM4
p.P892LSKCM3
p.P917SSKCM3
p.G479ESKCM3
p.G1011ESKCM3
p.G757ESKCM3
p.G554ESKCM2
p.Q1263*SKCM2
p.G49ESKCM2
p.P390SSKCM2
p.S1403PCOAD2
p.P800LSKCM2
p.G433ESKCM2
p.P635SSKCM2
p.G379ESKCM2
p.K1679RCOAD1
p.P1382SSKCM1
p.G1612ESKCM1
p.G996ESKCM1
p.G1248ESKCM1
p.G918RUCEC1
p.G170ESKCM1
p.P650THNSC1
p.G870VLIHC1
p.G1273ESKCM1
p.G40VLUAD1
p.G930DUCEC1
p.G1389ELUAD1
p.G1157RSKCM1
p.G1187RSKCM1
p.D371GHNSC1
p.E1052ACOAD1
p.L30RLIHC1
p.G1075DSKCM1
p.P1031TLUSC1
p.S776LBRCA1
p.D371YOV1
p.R64LCESC1
p.R1006KSKCM1
p.R877WESCA1
p.G768VUCEC1
p.G107VBLCA1
p.D1196YSTAD1
p.E640KGBM1
p.G1304DSKCM1
p.G596ESKCM1
p.G1264ESKCM1
p.M1387TLUSC1
p.G1508SSKCM1
p.R377SCOAD1
p.E735KSKCM1
p.P1234SSKCM1
p.W2*LGG1
p.P1215SSKCM1
p.P1379QBLCA1
p.G748SBRCA1
p.R50ILUAD1
p.P1026SSKCM1
p.E1211DESCA1
p.P1025ROV1
p.G927ESTAD1
p.G695COV1
p.I1559MPAAD1
p.F177SUCEC1
p.E380XPAAD1
p.P1385LSKCM1
p.R1377QSKCM1
p.G660CLUSC1
p.P929SSTAD1
p.G783*UCEC1
p.T973IGBM1
p.R1627TCESC1
p.K290NUCEC1
p.G173ESKCM1
p.R227CPRAD1
p.E1290KBLCA1
p.G593ELUAD1
p.G80ESKCM1
p.G1072*OV1
p.G599RSKCM1
p.R724CUCEC1
p.G164SSKCM1
p.G954ESKCM1
p.R588WUCEC1
p.N1526SLUAD1
p.G822CSTAD1
p.G22DLIHC1
p.G636DSKCM1
p.L874FSKCM1
p.P1369TCOAD1
p.P389SSKCM1
p.E794KLUAD1
p.P1117HUCEC1
p.K543QSTAD1
p.R920TBLCA1
p.P1165TSKCM1
p.P222QESCA1
p.P1255SBRCA1
p.S144*ESCA1
p.R1377QKIRC1
p.G894ESKCM1
p.P46SSKCM1
p.G754DPRAD1
p.P1521LSKCM1
p.E716KSKCM1
p.P977LSTAD1
p.R480KLGG1
p.G633EGBM1
p.R1388THNSC1
p.P504LCOAD1
p.P851SSKCM1
p.P839SSKCM1
p.K325NHNSC1
p.P1315SSKCM1
p.L1623MLUAD1
p.G282EBLCA1
p.K366*BLCA1
p.G454VCOAD1
p.P1059ASKCM1
p.G639ESKCM1
p.G411ESKCM1
p.G317ESKCM1
p.P82SHNSC1
p.R724SUCEC1
p.G1415SSKCM1
p.M9ISKCM1
p.G155ESKCM1
p.R1226CUCS1
p.G249CLUAD1
p.G633ESKCM1
p.G864WLUAD1
p.P1260SSTAD1
p.S749*BLCA1
p.G83ESKCM1
p.R908WSTAD1
p.V474FUCEC1
p.G1442VLUSC1
p.G602ESKCM1
p.G1395RSKCM1
p.P1402LSKCM1
p.D1609NSKCM1
p.R1038KSKCM1
p.Q1111XSKCM1
p.R1627KBLCA1
p.P1044SSKCM1
p.G1328ESKCM1
p.P151SUCEC1
p.G996RSKCM1
p.P1306LLIHC1
p.G500VSTAD1
p.P914LSKCM1
p.E919KSKCM1
p.R349*SKCM1
p.G593RSKCM1
p.D603NSKCM1
p.P1231SSKCM1
p.G616ESKCM1
p.P1299SSKCM1
p.L1470FSKCM1
p.M499VLUAD1
p.L898IUCEC1
p.G1395ESKCM1
p.G518RSKCM1
p.P1159SSKCM1
p.G613RSKCM1
p.G1198RSKCM1
p.P416SSKCM1
p.H165YBRCA1
p.G152ESKCM1
p.G1612RSKCM1
p.P620SSKCM1
p.G542ESKCM1
p.G1483CPAAD1
p.L415VHNSC1
p.R1431CUCEC1
p.G680SSARC1
p.P1232SSKCM1
p.P770LGBM1
p.A696DHNSC1
p.P693SSKCM1
p.G249VLUAD1
p.G1409RSKCM1
p.R675MUCEC1
p.P100SLUSC1
p.P718LSKCM1
p.H1579RSARC1
p.R97HCOAD1
p.G1457RTHCA1
p.R588WSKCM1
p.G855RSKCM1
p.G515RSKCM1
p.P1234SPRAD1
p.P1339SSARC1
p.V236MESCA1
p.G677DTHYM1
p.P779QLIHC1
p.R349XSKCM1
p.G509EUCEC1
p.S1584FSKCM1
p.S749LBLCA1
p.G590ESKCM1
p.P944TKIRC1
p.G74AESCA1
p.E937KSKCM1
p.G48ALUAD1
p.D729YHNSC1
p.G853ESKCM1
p.P621SLIHC1
p.D516ESTAD1
p.I295TSKCM1
p.G270ESKCM1
p.P1376RBRCA1
p.D383NCOAD1
p.G1248RSKCM1
p.N464SSARC1
p.P1047SSKCM1
p.Q34HLUSC1
p.Q1263*BLCA1
p.G771*LUAD1
p.D1373NSKCM1
p.K42TREAD1
p.G1465SSKCM1
p.P1309SSKCM1
p.R1560HESCA1
p.P1281TLUSC1
p.E964KSKCM1
p.K269NLUAD1
p.P650SSKCM1
p.L1182FSKCM1
p.G584VLUAD1
p.P1174LOV1
p.G294DSKCM1
p.P1243LSKCM1
p.A1078THNSC1
p.T1474MSTAD1
p.S1034PSKCM1
p.G98SSTAD1
p.G954*STAD1
p.G1310RLUSC1
p.P788LLGG1
p.P389LSKCM1
p.R920ICOAD1
p.P762THNSC1
p.G1121RSKCM1
p.P520LSKCM1
p.H1013YCOAD1
p.R724CSKCM1
p.A1384VSTAD1
p.G557ASKCM1
p.G83VLUAD1
p.P1170TSKCM1
p.R1416KSKCM1
p.G1160ESKCM1
p.G1027ELUAD1
p.P245_spliceLUSC1
p.G792RHNSC1
p.G1178DSKCM1
p.R811KSKCM1
p.R1560HUCEC1
p.R653KSKCM1
p.G867RLUAD1
p.G74DSARC1
p.K169RTHCA1
p.G1304AUCEC1
p.D597HHNSC1
p.G98SUCEC1
p.G554WSKCM1
p.G834RSKCM1
p.G677DUCEC1
p.P697HLUAD1
p.G957*UCEC1
p.M1394ILUAD1
p.P508SSKCM1
p.P1302LSKCM1
p.R877QPAAD1
p.G481CESCA1
p.P1379SSKCM1
p.G569ESKCM1
p.P1589LUCEC1
p.G654DSKCM1
p.V1422ILGG1
p.G1355VSTAD1
p.G921RSKCM1
p.P839LGBM1
p.G954XSTAD1
p.G1075SSKCM1
p.G1233EBLCA1
p.Q1111*SKCM1
p.G478RSKCM1
p.P839LLIHC1
p.D1293NCESC1
p.G993ESKCM1
p.P1243SSKCM1
p.G170RSKCM1
p.S738FSKCM1
p.G1230SSKCM1
p.Q241*HNSC1
p.G143SSKCM1
p.G173RSKCM1
p.G584ESKCM1
p.P730SUCEC1
p.G1127EUCEC1
p.G1433CUCEC1
p.M403IUCEC1
p.G888ESKCM1
p.G689RSKCM1
p.G518ESKCM1
p.S144XESCA1
p.D991NSKCM1
p.G645RGBM1
p.P1123LSKCM1
p.I1585TKIRP1
p.R877QDLBC1
p.P720SSKCM1
p.R1353KSKCM1
p.R50GSKCM1
p.G645ESKCM1
p.S1125FSKCM1
p.G1039RSKCM1
p.G864ESTAD1
p.R1677CGBM1
p.D1158NSKCM1
p.G270RSKCM1
p.G1319ESKCM1
p.S1681RUCEC1
p.P482SCOAD1
p.D1625HBLCA1
p.K42TPAAD1
p.E1391KSKCM1
p.E380*PAAD1
p.G276EBLCA1
p.G509WSKCM1
p.G633RSKCM1
p.P136LSKCM1
p.A624TSKCM1
p.D1158YLIHC1
p.G341VPAAD1


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TissGeneCNV for COL4A4

check button 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)
CNV


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TissGeneFusions for COL4A4

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNABF376481COL4A4-VPS26Bchr2:227972900chr11:134116898


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TissGeneNet for COL4A4

check button 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)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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COAD (tumor)COAD (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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HNSC (tumor)HNSC (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
bullet pointbullet point
KICH (tumor)KICH (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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KIRC (tumor)KIRC (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
bullet pointbullet point
KIRP (tumor)KIRP (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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LIHC (tumor)LIHC (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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LUAD (tumor)LUAD (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
bullet pointbullet point
LUSC (tumor)LUSC (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
bullet pointbullet point
PRAD (tumor)PRAD (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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STAD (tumor)STAD (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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THCA (tumor)THCA (normal)
COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (tumor)COL4A4, FN1, OSM, COL4A5, SAA1, HABP2, MMP9, CD93, ANTXR2, MATN2, DCN, FBLN2, SERPINE2, KLK6, LMX1B, TGFBI (normal)
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TissGeneProg for COL4A4

check button 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.
survival 1

check button 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.
survival 2

check button 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.
survival 3

check button 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.
survival 4

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TissGeneClin for COL4A4
TissGeneDrug for COL4A4

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for COL4A4

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C1567741Alport Syndrome31BeFree
umls:C0403440Thin basement membrane disease21BeFree
umls:C0241908Hematuria, Benign Familial14BeFree,CLINVAR,UNIPROT
umls:C1567744Alport Syndrome, Autosomal Recessive13BeFree,CLINVAR,MGD,ORPHANET,UNIPROT
umls:C0022658Kidney Diseases7BeFree,GAD
umls:C0027706Hereditary nephritis7BeFree,LHGDN
umls:C1305904Familial hematuria6BeFree
umls:C0017668Focal glomerulosclerosis5BeFree
umls:C0022578Keratoconus5BeFree,GAD
umls:C0035078Kidney Failure5BeFree
umls:C1567742Alport Syndrome, X-Linked5BeFree
umls:C0022661Kidney Failure, Chronic4BeFree,LHGDN
umls:C0238157Benign hematuria3BeFree
umls:C0333497Segmental glomerulosclerosis2BeFree
umls:C1561643Chronic Kidney Diseases2BeFree
umls:C1565489Renal Insufficiency2BeFree
umls:C0008495Chorioamnionitis1GAD
umls:C0015944Fetal Membranes, Premature Rupture1GAD
umls:C0017665Membranous glomerulonephritis1GAD
umls:C0018784Sensorineural Hearing Loss (disorder)1BeFree
umls:C0018965Hematuria1LHGDN
umls:C0022876Premature Obstetric Labor1GAD
umls:C0032914Pre-Eclampsia1GAD
umls:C0040336Tobacco Use Disorder1GAD
umls:C0151526Premature Birth1GAD
umls:C0154856Retinal lattice degeneration1BeFree
umls:C0268731Renal glomerular disease1BeFree
umls:C0403447Chronic Kidney Insufficiency1BeFree
umls:C1384666hearing impairment1LHGDN
umls:C1567743Alport Syndrome, Autosomal Dominant1BeFree,ORPHANET
umls:C2316810Chronic kidney disease stage 51BeFree
umls:C2919032Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified1GAD
umls:C2931253Alport syndrome, dominant type0ORPHANET
umls:C2931254Alport syndrome, recessive type0CTD_human