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| TissGeneSummary for COL17A1 |
 Gene summary |
| Basic gene information | Gene symbol | COL17A1 |
| Gene name | collagen, type XVII, alpha 1 | |
| Synonyms | BA16H23.2|BP180|BPA-2|BPAG2|LAD-1 | |
| Cytomap | UCSC genome browser: 10q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000494.3, NM_130778.1, | |
| Description | 180 kDa bullous pemphigoid antigen 2alpha 1 type XVII collagenbA16H23.2 (collagen, type XVII, alpha 1 (BP180))bullous pemphigoid antigen 2 (180kD)collagen XVII, alpha-1 polypeptidecollagen alpha-1(XVII) chaintype XVII collagen alpha-1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 113811 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000065618 | ||
| HPRD : 00223 | ||
| Vega : OTTHUMG00000018998 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_COL17A1 | |
| BioGPS: 1308 | ||
| Pathway | NCI Pathway Interaction Database: COL17A1 | |
| KEGG: COL17A1 | ||
| REACTOME: COL17A1 | ||
| Pathway Commons: COL17A1 | ||
| Context | iHOP: COL17A1 | |
| ligand binding site mutation search in PubMed: COL17A1 | ||
| UCL Cancer Institute: COL17A1 | ||
| 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) | BladderSkin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | BLCASKCM | |
| Reference showing the relevant tissue of COL17A1 | Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes. Kim SH, Choi HY, So JH, Kim CH, Ho SY, Frank M, Li Q, Uitto J. Matrix Biol. 2010 Sep;29(7):629-37. doi: 10.1016/j.matbio.2010.07.002. Epub 2010 Aug 4. (pmid:20670682) go to article | |
| Description by TissGene annotations | Cancer gene Fused withOncogene | |
| * 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:0031581 | hemidesmosome assembly | 12482924 | GO:0031581 | hemidesmosome assembly | 12482924 |
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| TissGeneExp for COL17A1 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - 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 |
| LUAD | 1.583674489 | -1.945418614 | 3.529093103 | 7.56E-12 | 5.38E-11 |
| BRCA | 0.81748807 | 4.754473158 | -3.936985088 | 3.27E-19 | 2.19E-18 |
| LUSC | 4.493190547 | -1.040932982 | 5.534123529 | 1.34E-18 | 1.31E-17 |
| PRAD | 1.663884967 | 3.888171505 | -2.224286538 | 9.00E-09 | 1.13E-07 |
| HNSC | 7.627749188 | 6.506249188 | 1.1215 | 0.00348 | 0.009949174 |
| KIRP | -1.136459024 | -3.455643399 | 2.319184375 | 0.00272 | 0.006768302 |
| COAD | 3.683834967 | 5.306519582 | -1.622684615 | 0.00055 | 0.001676008 |
| THCA | 1.071605436 | 2.24732069 | -1.175715254 | 0.000263 | 0.000680236 |
| KICH | -4.897631649 | -3.477515649 | -1.420116 | 0.000124 | 0.000317417 |
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| TissGene-miRNA for COL17A1 |
| 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 COL17A1 |
| TissGeneSNV for COL17A1 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.R145* | UCEC | 5 |
| p.R1069Q | SKCM | 2 |
| p.G1477E | SKCM | 2 |
| p.S895L | SKCM | 2 |
| p.G918R | SKCM | 2 |
| p.G857S | PAAD | 1 |
| p.R766C | HNSC | 1 |
| p.P953R | LUAD | 1 |
| p.A1061T | LUAD | 1 |
| p.E391K | SKCM | 1 |
| p.E634K | SKCM | 1 |
| p.P1217Q | THYM | 1 |
| p.P652T | OV | 1 |
| p.E391Q | BLCA | 1 |
| p.R879* | PRAD | 1 |
| p.K581* | LUSC | 1 |
| p.D1126Y | LIHC | 1 |
| p.V104I | STAD | 1 |
| p.P834A | LIHC | 1 |
| p.R507M | GBM | 1 |
| p.R498H | STAD | 1 |
| p.G254R | SKCM | 1 |
| p.L720I | STAD | 1 |
| p.P217L | SKCM | 1 |
| p.R132* | PRAD | 1 |
| p.G1477V | STAD | 1 |
| p.R584* | UCEC | 1 |
| p.R625Q | HNSC | 1 |
| p.S542C | LUAD | 1 |
| p.S1320P | COAD | 1 |
| p.P1461Q | LIHC | 1 |
| p.S79G | UCEC | 1 |
| p.G1291C | UCEC | 1 |
| p.A1208F | LUAD | 1 |
| p.G1271E | SKCM | 1 |
| p.A1239E | THYM | 1 |
| p.Q751L | LUAD | 1 |
| p.G906S | SKCM | 1 |
| p.G1477R | SKCM | 1 |
| p.V852I | HNSC | 1 |
| p.G273R | SKCM | 1 |
| p.G440D | SKCM | 1 |
| p.E1375* | BLCA | 1 |
| p.D536N | CESC | 1 |
| p.A1208V | LUAD | 1 |
| p.S1202L | UCEC | 1 |
| p.P511L | SKCM | 1 |
| p.R632H | STAD | 1 |
| p.G924C | OV | 1 |
| p.D2Y | OV | 1 |
| p.R145X | COAD | 1 |
| p.M620I | BRCA | 1 |
| p.A454S | ACC | 1 |
| p.D1366H | CESC | 1 |
| p.S568C | LUAD | 1 |
| p.V809A | THYM | 1 |
| p.I142T | HNSC | 1 |
| p.T387I | SKCM | 1 |
| p.S669F | SKCM | 1 |
| p.S663F | SKCM | 1 |
| p.P744H | LGG | 1 |
| p.A1208S | LUAD | 1 |
| p.E714D | UCEC | 1 |
| p.G1291D | HNSC | 1 |
| p.R143* | UCEC | 1 |
| p.G526C | COAD | 1 |
| p.G567R | SKCM | 1 |
| p.G1325S | READ | 1 |
| p.R1260H | UCEC | 1 |
| p.G532R | SKCM | 1 |
| p.G659V | LUAD | 1 |
| p.G877E | SKCM | 1 |
| p.E520K | SKCM | 1 |
| p.A454S | LIHC | 1 |
| p.A373S | LUAD | 1 |
| p.P1150S | BLCA | 1 |
| p.E357K | SKCM | 1 |
| p.P994L | PRAD | 1 |
| p.P1004L | COAD | 1 |
| p.R145X | READ | 1 |
| p.R106H | BRCA | 1 |
| p.S577T | HNSC | 1 |
| p.F126V | UCEC | 1 |
| p.L1135I | UCEC | 1 |
| p.P878T | LUAD | 1 |
| p.Q856* | BRCA | 1 |
| p.G1152R | SKCM | 1 |
| p.P753S | LUSC | 1 |
| p.H849R | BLCA | 1 |
| p.P994L | GBM | 1 |
| p.Q607X | THYM | 1 |
| p.E982K | SKCM | 1 |
| p.P375T | LUAD | 1 |
| p.A444T | CESC | 1 |
| p.R584X | PAAD | 1 |
| p.E561G | LUSC | 1 |
| p.P994L | UCEC | 1 |
| p.P1157S | COAD | 1 |
| p.S400X | CHOL | 1 |
| p.G821S | LGG | 1 |
| p.A376T | OV | 1 |
| p.G258R | STAD | 1 |
| p.G737R | STAD | 1 |
| p.A264V | GBM | 1 |
| p.A227V | STAD | 1 |
| p.K1476Q | BRCA | 1 |
| p.R100M | LUSC | 1 |
| p.G1005D | SKCM | 1 |
| p.A198T | PRAD | 1 |
| p.R106H | SARC | 1 |
| p.S1009R | BRCA | 1 |
| p.R584* | SKCM | 1 |
| p.R879Q | BLCA | 1 |
| p.D1056E | CESC | 1 |
| p.R632H | UCEC | 1 |
| p.S905Y | SKCM | 1 |
| p.P802T | THYM | 1 |
| p.N562S | HNSC | 1 |
| p.T412S | STAD | 1 |
| p.P910L | SKCM | 1 |
| p.K496N | UCEC | 1 |
| p.S1124C | HNSC | 1 |
| p.R584* | PAAD | 1 |
| p.P186S | SKCM | 1 |
| p.T421S | LUAD | 1 |
| p.G880D | STAD | 1 |
| p.E1013Q | BLCA | 1 |
| p.L556I | UCEC | 1 |
| p.P122T | COAD | 1 |
| p.K521N | SKCM | 1 |
| p.V322I | TGCT | 1 |
| p.R625* | UCEC | 1 |
| p.P681S | SKCM | 1 |
| p.S942C | HNSC | 1 |
| p.S938* | HNSC | 1 |
| p.R145* | SKCM | 1 |
| p.P961H | LUAD | 1 |
| p.S277P | STAD | 1 |
| p.P859S | ESCA | 1 |
| p.L759H | STAD | 1 |
| p.A454S | UCEC | 1 |
| p.P654S | SKCM | 1 |
| p.L1235M | LUAD | 1 |
| p.M989K | LUAD | 1 |
| p.G1434E | SKCM | 1 |
| p.P1409L | THYM | 1 |
| p.P980H | THYM | 1 |
| p.P1110T | BRCA | 1 |
| p.S1202L | STAD | 1 |
| p.E1352Q | BLCA | 1 |
| p.S61I | UCEC | 1 |
| p.G906S | UCEC | 1 |
| p.E1163A | KIRP | 1 |
| p.G254V | LUAD | 1 |
| p.R9Q | SKCM | 1 |
| p.R1303Q | UCS | 1 |
| p.L949F | SARC | 1 |
| p.R145X | SKCM | 1 |
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| TissGeneCNV for COL17A1 |
| 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 COL17A1 |
| 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 | FusionScan | ESCA | TCGA-Z6-A8JD-01A | COL17A1-COL1A1 | Out-of-Frame | chr10:105802177 | chr17:48274424 |
| TCGAfusionPortal | PRADA | HNSC | TCGA-CR-6474-01A | TNC-COL17A1 | NA | Chr9:117782839 | Chr10:105845629 |
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| TissGeneNet for COL17A1 |
| 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) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| COAD (tumor) | COAD (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| KICH (tumor) | KICH (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| STAD (tumor) | STAD (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| THCA (tumor) | THCA (normal) |
| COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (tumor) | COL17A1, TP63, CTNND1, ITGB4, DSP, ACTN4, KRT18, PPL, ACTN1, CLCN7, PLEC, DST, CLSTN1, ITGA6, LAD1 (normal) |
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| TissGeneProg for COL17A1 |
| 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. |
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| 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. |
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| 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. |
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| 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 COL17A1 |
| TissGeneDrug for COL17A1 |
| 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 COL17A1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0030805 | Bullous pemphigoid | 67 | BeFree,LHGDN |
| umls:C0079301 | Junctional Epidermolysis Bullosa | 33 | BeFree |
| umls:C0014527 | Epidermolysis Bullosa | 18 | BeFree,LHGDN |
| umls:C0272187 | Congenital leukocyte adherence deficiency | 7 | BeFree |
| umls:C0406650 | Linear IgA Bullous Dermatosis | 6 | BeFree |
| umls:C0037274 | Dermatologic disorders | 5 | BeFree |
| umls:C0079298 | Epidermolysis Bullosa Simplex | 5 | BeFree |
| umls:C0268374 | Adult junctional epidermolysis bullosa (disorder) | 5 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0432326 | Junctional epidermolysis bullosa mitis | 5 | BeFree |
| umls:C0030804 | Pemphigoid, Benign Mucous Membrane | 4 | BeFree |
| umls:C0151514 | Atrophic condition of skin | 4 | BeFree |
| umls:C0019340 | Herpes NOS | 3 | BeFree |
| umls:C0037277 | Skin Diseases, Genetic | 3 | BeFree |
| umls:C0030809 | Pemphigus Vulgaris | 2 | BeFree |
| umls:C0031099 | Periodontitis | 2 | BeFree,GAD |
| umls:C0398738 | Leukocyte adhesion deficiency type 1 | 2 | BeFree |
| umls:C0406369 | Lichen planus pemphigoides | 2 | BeFree |
| umls:C0553723 | Squamous cell carcinoma of skin | 2 | BeFree |
| umls:C0001418 | Adenocarcinoma | 1 | LHGDN |
| umls:C0004364 | Autoimmune Diseases | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
| umls:C0011608 | Dermatitis Herpetiformis | 1 | BeFree |
| umls:C0018800 | Cardiomegaly | 1 | GAD |
| umls:C0019343 | Pemphigoid Gestationis | 1 | LHGDN |
| umls:C0022602 | Actinic keratosis | 1 | BeFree |
| umls:C0023418 | leukemia | 1 | BeFree |
| umls:C0026272 | Mixed Connective Tissue Disease | 1 | BeFree |
| umls:C0036221 | Mast-Cell Sarcoma | 1 | BeFree |
| umls:C0037299 | Skin Ulcer | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0085084 | Motor Neuron Disease | 1 | LHGDN |
| umls:C0085652 | Pyoderma Gangrenosum | 1 | BeFree |
| umls:C0149782 | Squamous cell carcinoma of lung | 1 | BeFree |
| umls:C0270814 | Spastic syndrome | 1 | BeFree |
| umls:C0406632 | Autoimmune skin disease | 1 | BeFree |
| umls:C0474889 | Localized junctional epidermolysis bullosa | 1 | BeFree |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C1112570 | Paraneoplastic pemphigus | 1 | BeFree |
| umls:C1383860 | Cardiac Hypertrophy | 1 | GWASCAT |
| umls:C1512419 | Hereditary Melanoma | 1 | BeFree |
| umls:C1852551 | Epithelial Recurrent Erosion Dystrophy | 1 | BeFree,CLINVAR,ORPHANET,UNIPROT |
| umls:C2931822 | Nasopharyngeal carcinoma | 1 | BeFree |
| umls:C3811653 | Experimental Organism Basal Cell Carcinoma | 1 | BeFree |
| umls:C2608084 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) | 0 | CLINVAR |
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