TissGeneSummary for COL7A1 |
Gene summary |
Basic gene information | Gene symbol | COL7A1 |
Gene name | collagen, type VII, alpha 1 | |
Synonyms | EBD1|EBDCT|EBR1|NDNC8 | |
Cytomap | UCSC genome browser: 3p21.1 | |
Type of gene | protein-coding | |
RefGenes | NM_000094.3, | |
Description | LC collagencollagen VII, alpha-1 polypeptidecollagen alpha-1(VII) chainlong-chain collagen | |
Modification date | 20141222 | |
dbXrefs | MIM : 120120 | |
HGNC : HGNC | ||
Ensembl : ENSG00000114270 | ||
HPRD : 00358 | ||
Vega : OTTHUMG00000133541 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_COL7A1 | |
BioGPS: 1294 | ||
Pathway | NCI Pathway Interaction Database: COL7A1 | |
KEGG: COL7A1 | ||
REACTOME: COL7A1 | ||
Pathway Commons: COL7A1 | ||
Context | iHOP: COL7A1 | |
ligand binding site mutation search in PubMed: COL7A1 | ||
UCL Cancer Institute: COL7A1 | ||
Assigned class in TissGDB* | A | |
Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BladderProstateSkin | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | BLCAPRADSKCM | |
Reference showing the relevant tissue of COL7A1 | Tissue-specific expression and long-term deposition of human collagen VII in the skin of transgenic mice: implications for gene therapy. Sat E, Leung KH, Bruckner-Tuderman L, Cheah KS. Gene Ther. 2000 Oct;7(19):1631-9. (pmid:11083471) go to article | |
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 |
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TissGeneExp for COL7A1 |
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 |
KICH | -3.884719173 | -0.236039173 | -3.64868 | 1.65E-08 | 8.48E-08 |
COAD | 1.534810058 | -2.070959173 | 3.605769231 | 1.46E-14 | 6.66E-13 |
LUAD | -0.20319538 | -3.065521242 | 2.862325862 | 6.00E-15 | 6.15E-14 |
HNSC | 5.321724548 | 3.033247804 | 2.288476744 | 7.92E-13 | 3.07E-11 |
LUSC | 3.84187416 | -1.942845447 | 5.784719608 | 1.73E-33 | 1.56E-31 |
THCA | -1.118443919 | -3.788767647 | 2.670323729 | 2.70E-09 | 1.48E-08 |
LIHC | -1.541419173 | -3.884045173 | 2.342626 | 2.76E-06 | 1.35E-05 |
ESCA | 4.099622645 | 0.302522645 | 3.7971 | 0.000829 | 0.012803444 |
BLCA | 4.200593459 | 1.550219775 | 2.650373684 | 0.000123 | 0.001296455 |
KIRP | -2.741768548 | -0.804677923 | -1.937090625 | 0.00016 | 0.000520639 |
STAD | 1.046022077 | -1.450821673 | 2.49684375 | 1.83E-05 | 0.00019054 |
KIRC | -3.521153617 | -2.179516117 | -1.3416375 | 7.92E-05 | 0.000168714 |
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TissGene-miRNA for COL7A1 |
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 COL7A1 |
TissGeneSNV for COL7A1 |
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.P1582S | SKCM | 3 |
p.P2748L | SKCM | 2 |
p.E1923K | SKCM | 2 |
p.P1410L | SKCM | 2 |
p.E1535K | SKCM | 2 |
p.S2378F | BLCA | 2 |
p.S430F | SKCM | 2 |
p.P2081S | SKCM | 2 |
p.G2123V | BLCA | 1 |
p.V575M | LGG | 1 |
p.G2058E | BLCA | 1 |
p.R2532P | ACC | 1 |
p.G2623D | SKCM | 1 |
p.R2814Q | SKCM | 1 |
p.L2636F | SKCM | 1 |
p.V692I | SKCM | 1 |
p.P773A | SARC | 1 |
p.E2676V | LUSC | 1 |
p.C2912R | STAD | 1 |
p.T1396P | GBM | 1 |
p.R2553W | STAD | 1 |
p.G2713C | UCEC | 1 |
p.G2082R | SKCM | 1 |
p.G1625E | BLCA | 1 |
p.P1046T | LGG | 1 |
p.D2881G | BLCA | 1 |
p.R450H | OV | 1 |
p.G1335E | LUAD | 1 |
p.V1138M | UCEC | 1 |
p.P2723S | THYM | 1 |
p.R523Q | COAD | 1 |
p.G810C | STAD | 1 |
p.R2424W | BRCA | 1 |
p.G2230E | SKCM | 1 |
p.P2259S | SKCM | 1 |
p.E181Q | BLCA | 1 |
p.R2628W | CESC | 1 |
p.R2685Q | BLCA | 1 |
p.V2448M | LIHC | 1 |
p.R2928C | COAD | 1 |
p.P1561S | SKCM | 1 |
p.V2606A | UCEC | 1 |
p.G2605V | HNSC | 1 |
p.K2137E | PAAD | 1 |
p.S527Y | LUAD | 1 |
p.R1620Q | UCEC | 1 |
p.W976X | SKCM | 1 |
p.G2413E | SKCM | 1 |
p.F1106C | UCEC | 1 |
p.R2424W | STAD | 1 |
p.P2667L | BLCA | 1 |
p.P1441L | SKCM | 1 |
p.Q1255H | OV | 1 |
p.K1253N | STAD | 1 |
p.P2381A | CHOL | 1 |
p.R1977H | UCS | 1 |
p.R2338Q | LGG | 1 |
p.G1448_splice | UCEC | 1 |
p.D1983Y | BRCA | 1 |
p.E2343K | BRCA | 1 |
p.L426P | COAD | 1 |
p.R449W | STAD | 1 |
p.R1814H | COAD | 1 |
p.P1441S | LUSC | 1 |
p.R1538H | COAD | 1 |
p.G2825D | UCEC | 1 |
p.Q336P | CESC | 1 |
p.P2846S | COAD | 1 |
p.A36V | SKCM | 1 |
p.E2106D | CESC | 1 |
p.G1821D | STAD | 1 |
p.G619E | LGG | 1 |
p.R1751W | BLCA | 1 |
p.P1536H | UCEC | 1 |
p.E865K | CHOL | 1 |
p.A617S | BRCA | 1 |
p.G2434E | SARC | 1 |
p.R615S | LUAD | 1 |
p.A2655V | STAD | 1 |
p.P2470L | SKCM | 1 |
p.S1183F | SKCM | 1 |
p.G1314E | SKCM | 1 |
p.G2775V | UCEC | 1 |
p.G2351A | OV | 1 |
p.G2082E | SKCM | 1 |
p.V222M | BLCA | 1 |
p.P1897T | LUSC | 1 |
p.K1992N | STAD | 1 |
p.K2289* | LIHC | 1 |
p.T826R | LUAD | 1 |
p.P1889S | SKCM | 1 |
p.I1116T | STAD | 1 |
p.P1897L | SKCM | 1 |
p.P1561L | SKCM | 1 |
p.P1903S | SKCM | 1 |
p.G1433E | SKCM | 1 |
p.R2063L | PRAD | 1 |
p.P1940Q | LUAD | 1 |
p.A2054T | COAD | 1 |
p.G2114V | LUAD | 1 |
p.T498I | SKCM | 1 |
p.G824R | SKCM | 1 |
p.R2745Q | THYM | 1 |
p.R442S | KIRC | 1 |
p.W448R | BRCA | 1 |
p.G2100C | BRCA | 1 |
p.G824E | SKCM | 1 |
p.T750M | PRAD | 1 |
p.A804T | SKCM | 1 |
p.E1466K | SKCM | 1 |
p.G2082E | BRCA | 1 |
p.Q2014* | BLCA | 1 |
p.R108H | COAD | 1 |
p.G1551E | ESCA | 1 |
p.P1645L | COAD | 1 |
p.G1712V | LUAD | 1 |
p.G2046D | PAAD | 1 |
p.G2114S | SKCM | 1 |
p.W448* | SKCM | 1 |
p.T703I | SKCM | 1 |
p.V1162I | SKCM | 1 |
p.E774D | LIHC | 1 |
p.R1944W | SKCM | 1 |
p.E835K | SKCM | 1 |
p.G1714R | SKCM | 1 |
p.A1195V | ESCA | 1 |
p.G63V | STAD | 1 |
p.P863S | KICH | 1 |
p.Q783H | KIRC | 1 |
p.G1341E | SKCM | 1 |
p.S320R | LUAD | 1 |
p.G1919E | SKCM | 1 |
p.S2378F | SKCM | 1 |
p.R2424W | READ | 1 |
p.D1113N | SKCM | 1 |
p.P1349L | STAD | 1 |
p.R1153H | LUAD | 1 |
p.R2002C | STAD | 1 |
p.R2777P | BLCA | 1 |
p.E1986K | READ | 1 |
p.G2737V | LUAD | 1 |
p.S718F | SKCM | 1 |
p.D746H | SKCM | 1 |
p.E56K | STAD | 1 |
p.G1569V | LUAD | 1 |
p.P1678S | SKCM | 1 |
p.E2311K | SKCM | 1 |
p.P2191L | STAD | 1 |
p.T612M | READ | 1 |
p.G2749R | STAD | 1 |
p.Q377H | COAD | 1 |
p.R1957Q | SKCM | 1 |
p.P1648T | LUAD | 1 |
p.L310I | STAD | 1 |
p.G2046S | LIHC | 1 |
p.P1364S | SKCM | 1 |
p.A893V | UCEC | 1 |
p.G2737* | LUAD | 1 |
p.G871R | SKCM | 1 |
p.G2293S | COAD | 1 |
p.G2644* | BLCA | 1 |
p.D1608E | UCEC | 1 |
p.R592C | LUAD | 1 |
p.R1178C | SKCM | 1 |
p.V972M | SKCM | 1 |
p.S2826C | SKCM | 1 |
p.S2512G | LUSC | 1 |
p.D1593H | CESC | 1 |
p.T1909M | PRAD | 1 |
p.P2486S | LUAD | 1 |
p.A1313V | LUAD | 1 |
p.R582L | BLCA | 1 |
p.R2895Q | UCEC | 1 |
p.V621I | SKCM | 1 |
p.R185Q | UCEC | 1 |
p.P1007S | SKCM | 1 |
p.E1261* | UCEC | 1 |
p.P2145L | LUAD | 1 |
p.Y805* | BLCA | 1 |
p.R2485C | UCEC | 1 |
p.P1352S | BLCA | 1 |
p.P1176T | SKCM | 1 |
p.G2242E | SKCM | 1 |
p.V1093A | SKCM | 1 |
p.A676T | COAD | 1 |
p.R2628W | COAD | 1 |
p.P1897S | SKCM | 1 |
p.R2927C | STAD | 1 |
p.R1101W | LIHC | 1 |
p.G2623D | LGG | 1 |
p.Q1063E | CESC | 1 |
p.K2289X | LIHC | 1 |
p.G1546E | SKCM | 1 |
p.G1613R | BLCA | 1 |
p.Q696* | LUSC | 1 |
p.H1100R | COAD | 1 |
p.R293L | LIHC | 1 |
p.E2764K | OV | 1 |
p.R2622Q | STAD | 1 |
p.L1169F | BLCA | 1 |
p.P2376L | PRAD | 1 |
p.R1014Q | LIHC | 1 |
p.G2469V | LUAD | 1 |
p.R549Q | STAD | 1 |
p.E1768K | SKCM | 1 |
p.F2618L | LUAD | 1 |
p.K2675N | COAD | 1 |
p.S379L | SKCM | 1 |
p.A121T | STAD | 1 |
p.P2879S | STAD | 1 |
p.R2504C | UCEC | 1 |
p.R105C | COAD | 1 |
p.D2270Y | LIHC | 1 |
p.P463L | SKCM | 1 |
p.G1712* | PRAD | 1 |
p.P1520S | SKCM | 1 |
p.R293W | UCEC | 1 |
p.M1207I | SKCM | 1 |
p.A2783P | UCS | 1 |
p.Q1886L | LIHC | 1 |
p.R1538C | SKCM | 1 |
p.S959R | ESCA | 1 |
p.R361Q | LGG | 1 |
p.N284D | LIHC | 1 |
p.G1782R | READ | 1 |
p.G2475R | LUSC | 1 |
p.R593Q | STAD | 1 |
p.G2201V | LUAD | 1 |
p.G2363E | STAD | 1 |
p.A415T | LGG | 1 |
p.G2174D | HNSC | 1 |
p.R1574W | LGG | 1 |
p.R578X | COAD | 1 |
p.G1749E | SKCM | 1 |
p.G1260A | BLCA | 1 |
p.P2134S | LGG | 1 |
p.G1712R | LUAD | 1 |
p.F194L | UCS | 1 |
p.P2869L | SKCM | 1 |
p.P1441L | ACC | 1 |
p.P457Q | UCEC | 1 |
p.R1201H | COAD | 1 |
p.C1234* | LUAD | 1 |
p.D564G | LIHC | 1 |
p.D2007N | SKCM | 1 |
p.G2611R | BLCA | 1 |
p.G1290E | SKCM | 1 |
p.T1318A | LIHC | 1 |
p.R2895W | BLCA | 1 |
p.G2511W | ESCA | 1 |
p.G2689R | SKCM | 1 |
p.R1306S | LUSC | 1 |
p.G1712E | SKCM | 1 |
p.G1448S | UCEC | 1 |
p.R851H | COAD | 1 |
p.P2652H | BLCA | 1 |
p.E2840Q | CESC | 1 |
p.R843Q | SKCM | 1 |
p.P1702L | MESO | 1 |
p.R2063Q | UCEC | 1 |
p.H2838Y | LUSC | 1 |
p.G2269E | SKCM | 1 |
p.G1021S | SKCM | 1 |
p.F2711L | SKCM | 1 |
p.G2025A | COAD | 1 |
p.G2108E | SKCM | 1 |
p.I858T | UCEC | 1 |
p.P1307A | BLCA | 1 |
p.Y2819C | LUAD | 1 |
p.G1572W | LUAD | 1 |
p.P1391S | SKCM | 1 |
p.G1554R | SKCM | 1 |
p.T413N | THYM | 1 |
p.G1854R | SKCM | 1 |
p.A254V | UCS | 1 |
p.R481C | SKCM | 1 |
p.A735T | LGG | 1 |
p.A2361V | LAML | 1 |
p.P1274T | PRAD | 1 |
p.G1830E | SKCM | 1 |
p.R105C | SKCM | 1 |
p.C2925Y | COAD | 1 |
p.W448X | SKCM | 1 |
p.G1854A | STAD | 1 |
p.R669P | LUAD | 1 |
p.R1366Q | STAD | 1 |
p.R450C | STAD | 1 |
p.P1437S | LGG | 1 |
p.R2002H | UCEC | 1 |
p.P2087A | LUAD | 1 |
p.R51C | PAAD | 1 |
p.G1679A | LGG | 1 |
p.P2045S | SKCM | 1 |
p.R605W | UCEC | 1 |
p.G1697V | LUAD | 1 |
p.A2453T | UCEC | 1 |
p.G1872S | COAD | 1 |
p.A255T | SKCM | 1 |
p.R298W | SKCM | 1 |
p.R357C | GBM | 1 |
p.R2544Q | UCEC | 1 |
p.P1473S | SKCM | 1 |
p.P2027L | SKCM | 1 |
p.R2338Q | BLCA | 1 |
p.P2381H | LGG | 1 |
p.R1334C | CESC | 1 |
p.D1064H | OV | 1 |
p.A172D | LUAD | 1 |
p.E2482K | SKCM | 1 |
p.R450L | LUSC | 1 |
p.T2705N | THYM | 1 |
p.R2063W | COAD | 1 |
p.A1662T | COAD | 1 |
p.R2777Q | BLCA | 1 |
p.G1353* | PAAD | 1 |
p.P1423L | PAAD | 1 |
p.G2126A | GBM | 1 |
p.P1742S | HNSC | 1 |
p.P2027S | SKCM | 1 |
p.G1613R | SKCM | 1 |
p.T1140R | BLCA | 1 |
p.R778C | SKCM | 1 |
p.P476L | UCEC | 1 |
p.V1216M | PRAD | 1 |
p.P1880L | SKCM | 1 |
p.D2881G | LGG | 1 |
p.G2049V | LUAD | 1 |
p.G1507V | LUAD | 1 |
p.G2692C | LUSC | 1 |
p.G2064* | LUSC | 1 |
p.V461E | LUAD | 1 |
p.D2483N | SKCM | 1 |
p.R1666W | SKCM | 1 |
p.R324W | UCEC | 1 |
p.G1734S | SKCM | 1 |
p.G1997C | READ | 1 |
p.P1151T | CESC | 1 |
p.P2832H | LUAD | 1 |
p.P1376H | ESCA | 1 |
p.T217M | STAD | 1 |
p.P1940S | THYM | 1 |
p.G2662R | UCEC | 1 |
p.P2231L | HNSC | 1 |
p.S857F | SKCM | 1 |
p.G2434R | SARC | 1 |
p.A516T | LUAD | 1 |
p.R525* | LUSC | 1 |
p.R445Q | STAD | 1 |
p.G2725W | KIRP | 1 |
p.G2605* | HNSC | 1 |
p.G1857A | STAD | 1 |
p.R1814C | SKCM | 1 |
p.R449Q | LGG | 1 |
p.E447D | SKCM | 1 |
p.R578Q | SKCM | 1 |
p.W976* | SKCM | 1 |
p.R1594W | PAAD | 1 |
p.G1412E | BLCA | 1 |
p.A758T | STAD | 1 |
p.D230N | BLCA | 1 |
p.R843* | HNSC | 1 |
p.R1630Q | LGG | 1 |
p.G1697W | LUAD | 1 |
p.P1775S | SKCM | 1 |
p.E451Q | HNSC | 1 |
p.A1066V | UCEC | 1 |
p.P1765S | SKCM | 1 |
p.P775H | CESC | 1 |
p.P2382S | SKCM | 1 |
p.A1864T | STAD | 1 |
p.P2732S | SKCM | 1 |
p.D1835Y | ESCA | 1 |
p.A2783D | LUAD | 1 |
p.H723Y | SKCM | 1 |
p.D2615H | LUAD | 1 |
p.P2259L | SKCM | 1 |
p.G2383D | LIHC | 1 |
p.W1963S | BLCA | 1 |
p.S1041F | HNSC | 1 |
p.V395M | ESCA | 1 |
p.P2229S | SKCM | 1 |
p.A624T | COAD | 1 |
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TissGeneCNV for COL7A1 |
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 COL7A1 |
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 | BU615800 | ABHD14B-COL7A1 | chr3:52007850 | chr3:48627180 | |
Chimerdb3.0 | ChiTaRs | NA | BU198036 | COL7A1-CES4A | chr3:48601644 | chr16:67043577 | |
Chimerdb3.0 | FusionScan | ESCA | TCGA-LN-A8I0-01A | COL7A1-PLXNB1 | Out-of-Frame | chr3:48605006 | chr3:48457168 |
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TissGeneNet for COL7A1 |
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) |
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TissGeneProg for COL7A1 |
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 COL7A1 |
TissGeneDrug for COL7A1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for COL7A1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0079294 | Epidermolysis Bullosa Dystrophica | 96 | BeFree,CTD_human,GAD,LHGDN |
umls:C0079474 | Hallopeau-Siemens Disease | 79 | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT |
umls:C0079136 | Cockayne-Touraine Disease | 21 | BeFree |
umls:C0014527 | Epidermolysis Bullosa | 20 | BeFree,GAD,LHGDN |
umls:C1275114 | Epidermolysis Bullosa Pruriginosa | 12 | BeFree,CTD_human,ORPHANET,UNIPROT |
umls:C0432322 | Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) | 11 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0037274 | Dermatologic disorders | 10 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 6 | BeFree,LHGDN |
umls:C0037277 | Skin Diseases, Genetic | 6 | BeFree |
umls:C0432321 | Epidermolysis bullosa, pretibial | 4 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C1851573 | Transient bullous dermolysis of the newborn | 4 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0221260 | Dystrophia unguium | 3 | BeFree |
umls:C0079293 | Epidermolysis Bullosa Acquisita | 2 | LHGDN |
umls:C0085932 | Skin Diseases, Bullous | 2 | BeFree |
umls:C0553723 | Squamous cell carcinoma of skin | 2 | BeFree |
umls:C0007114 | Malignant neoplasm of skin | 1 | BeFree |
umls:C0009404 | Colorectal Neoplasms | 1 | CTD_human |
umls:C0010346 | Crohn Disease | 1 | LHGDN |
umls:C0019296 | Inguinal Hernia, Indirect | 1 | BeFree |
umls:C0033774 | Pruritus | 1 | GAD |
umls:C0036341 | Schizophrenia | 1 | GAD |
umls:C0039538 | Teratoma | 1 | BeFree |
umls:C0079301 | Junctional Epidermolysis Bullosa | 1 | BeFree |
umls:C0175754 | Agenesis of corpus callosum | 1 | BeFree |
umls:C0266999 | Vesicular Stomatitis | 1 | BeFree |
umls:C0270853 | Myoclonic Epilepsy, Juvenile | 1 | BeFree |
umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | BeFree |
umls:C0406557 | Poikiloderma of Kindler | 1 | BeFree |
umls:C0474886 | Localized recessive dystrophic epidermolysis bullosa | 1 | BeFree |
umls:C0474887 | Generalized dystrophic epidermolysis bullosa | 1 | BeFree |
umls:C1458155 | Mammary Neoplasms | 1 | CTD_human |
umls:C1843761 | TOENAIL DYSTROPHY, ISOLATED | 1 | CLINVAR,CTD_human,UNIPROT |
umls:C0268371 | Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails | 0 | CLINVAR,CTD_human |
umls:C1843477 | Epidermolysis Bullosa Simplex Superficialis | 0 | ORPHANET |
umls:C2673611 | Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | 0 | CLINVAR |
umls:C2673612 | Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive | 0 | CLINVAR |