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| TissGeneSummary for ABCB6 |
 Gene summary |
| Basic gene information | Gene symbol | ABCB6 |
| Gene name | ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) | |
| Synonyms | ABC|ABC14|DUH3|LAN|MCOPCB7|MTABC3|PRP|umat | |
| Cytomap | UCSC genome browser: 2q36 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005689.2, | |
| Description | ATP-binding cassette half-transporterATP-binding cassette sub-family B member 6, mitochondrialP-glycoprotein-related proteinmitochondrial ABC transporter 3mt-ABC transporter 3ubiquitously-expressed mammalian ABC half transporter | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605452 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115657 | ||
| HPRD : 09261 | ||
| Vega : OTTHUMG00000133131 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ABCB6 | |
| BioGPS: 10058 | ||
| Pathway | NCI Pathway Interaction Database: ABCB6 | |
| KEGG: ABCB6 | ||
| REACTOME: ABCB6 | ||
| Pathway Commons: ABCB6 | ||
| Context | iHOP: ABCB6 | |
| ligand binding site mutation search in PubMed: ABCB6 | ||
| UCL Cancer Institute: ABCB6 | ||
| 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) | OvaryTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | OVTGCT | |
| Reference showing the relevant tissue of ABCB6 | ||
| Description by TissGene annotations | TissgsLTS | |
| * 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:0006779 | porphyrin-containing compound biosynthetic process | 17006453 | GO:0006810 | transport | 10837493 | GO:0015886 | heme transport | 17661442 | GO:0006779 | porphyrin-containing compound biosynthetic process | 17006453 | GO:0006810 | transport | 10837493 | GO:0015886 | heme transport | 17661442 |
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| TissGeneExp for ABCB6 |
| 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) |
 |
| - 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 | -1.793367615 | -0.135851615 | -1.657516 | 2.59E-12 | 2.81E-11 |
| LUAD | 0.83022473 | -0.61007527 | 1.4403 | 2.07E-15 | 2.22E-14 |
| KIRC | 1.443342163 | 0.053410219 | 1.389931944 | 2.71E-20 | 2.21E-19 |
| KIRP | 1.42288001 | 0.367539385 | 1.055340625 | 2.04E-07 | 1.18E-06 |
| LUSC | 1.434427131 | -0.42172385 | 1.85615098 | 1.15E-17 | 1.00E-16 |
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| TissGene-miRNA for ABCB6 |
| 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 ABCB6 |
| TissGeneSNV for ABCB6 |
| 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.S357* | BRCA | 1 |
| p.S493L | LUSC | 1 |
| p.G270R | UCEC | 1 |
| p.W304R | PRAD | 1 |
| p.D224Y | BRCA | 1 |
| p.V735I | LUSC | 1 |
| p.R344W | PAAD | 1 |
| p.A756V | CESC | 1 |
| p.D694Y | LIHC | 1 |
| p.R584H | ESCA | 1 |
| p.W189* | UCEC | 1 |
| p.V788L | KIRP | 1 |
| p.I403V | LIHC | 1 |
| p.F565L | STAD | 1 |
| p.R603W | PAAD | 1 |
| p.P670S | UCEC | 1 |
| p.R477* | HNSC | 1 |
| p.F409C | SKCM | 1 |
| p.R477* | SKCM | 1 |
| p.R336W | STAD | 1 |
| p.G816E | UCEC | 1 |
| p.N545S | HNSC | 1 |
| p.V609M | ESCA | 1 |
| p.K732R | BLCA | 1 |
| p.T740I | BLCA | 1 |
| p.V609L | LUAD | 1 |
| p.W822* | UCEC | 1 |
| p.R634C | UCEC | 1 |
| p.L88Q | ESCA | 1 |
| p.V595M | READ | 1 |
| p.A517T | STAD | 1 |
| p.R688H | STAD | 1 |
| p.T679I | UCEC | 1 |
| p.L636V | LUAD | 1 |
| p.Y214C | LUAD | 1 |
| p.I70L | LUSC | 1 |
| p.S490L | UCEC | 1 |
| p.V796I | STAD | 1 |
| p.A756V | READ | 1 |
| p.V45M | ESCA | 1 |
| p.F311L | ESCA | 1 |
| p.Y536H | STAD | 1 |
| p.V689A | PAAD | 1 |
| p.R584H | READ | 1 |
| p.V796I | CESC | 1 |
| p.W304* | HNSC | 1 |
| p.A373V | LIHC | 1 |
| p.E9* | BLCA | 1 |
| p.R338* | UCEC | 1 |
| p.A57S | HNSC | 1 |
| p.T549A | COAD | 1 |
| p.S661F | SKCM | 1 |
| p.K313N | KIRP | 1 |
| p.R723L | KIRP | 1 |
| p.R375W | HNSC | 1 |
| p.D566H | BLCA | 1 |
| p.Y286D | UCEC | 1 |
| p.W189C | ESCA | 1 |
| p.E472K | UCEC | 1 |
| p.R634H | UCS | 1 |
| p.R330H | UCEC | 1 |
| p.G367E | GBM | 1 |
| p.C268X | ACC | 1 |
| p.N761K | KIRC | 1 |
| p.R375W | UCEC | 1 |
| p.D653H | HNSC | 1 |
| p.I140S | SKCM | 1 |
| p.L662P | KIRP | 1 |
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| TissGeneCNV for ABCB6 |
| 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 ABCB6 |
| 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 | R74223 | FSTL1-ABCB6 | chr3:120113427 | chr2:220084872 | |
| Chimerdb3.0 | ChiTaRs | NA | BE378883 | ABCB6-ABCB6 | chr2:220084267 | chr2:220084102 |
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| TissGeneNet for ABCB6 |
| 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) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (tumor) | ABCB6, TSG101, UBC, TOLLIP, PIK3R3 (normal) |
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| TissGeneProg for ABCB6 |
| 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 ABCB6 |
| TissGeneDrug for ABCB6 |
| 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 ABCB6 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0162534 | Prion Diseases | 19 | BeFree |
| umls:C0079744 | Diffuse Large B-Cell Lymphoma | 18 | BeFree |
| umls:C0027819 | Neuroblastoma | 15 | BeFree |
| umls:C0700095 | Central neuroblastoma | 15 | BeFree |
| umls:C0019693 | HIV Infections | 12 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 9 | BeFree |
| umls:C0010674 | Cystic Fibrosis | 9 | BeFree |
| umls:C0678222 | Breast Carcinoma | 8 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 6 | BeFree |
| umls:C0162309 | Adrenoleukodystrophy | 6 | BeFree |
| umls:C2239176 | Liver carcinoma | 6 | BeFree |
| umls:C0022336 | Creutzfeldt-Jakob disease | 5 | BeFree |
| umls:C0033847 | Pseudoxanthoma Elasticum | 5 | BeFree |
| umls:C0014544 | Epilepsy | 4 | BeFree |
| umls:C0017495 | Gerstmann-Straussler-Scheinker Disease | 4 | BeFree |
| umls:C0019158 | Hepatitis | 4 | BeFree |
| umls:C0019159 | Hepatitis A | 4 | BeFree |
| umls:C0023473 | Myeloid Leukemia, Chronic | 4 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 4 | BeFree |
| umls:C3809394 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 | 4 | CLINVAR,UNIPROT |
| umls:C0009363 | Congenital ocular coloboma (disorder) | 3 | BeFree,ORPHANET |
| umls:C0014175 | Endometriosis | 3 | BeFree |
| umls:C0270612 | Leukoencephalopathies | 3 | BeFree |
| umls:C2930995 | Dyschromatosis universalis hereditaria | 3 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 2 | BeFree |
| umls:C0004364 | Autoimmune Diseases | 2 | BeFree |
| umls:C0007102 | Malignant tumor of colon | 2 | BeFree |
| umls:C0008479 | Chondrosarcoma | 2 | BeFree |
| umls:C0011265 | Presenile dementia | 2 | BeFree |
| umls:C0011334 | Dental caries | 2 | BeFree |
| umls:C0011615 | Dermatitis, Atopic | 2 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | BeFree |
| umls:C0013421 | Dystonia | 2 | BeFree |
| umls:C0013595 | Eczema | 2 | BeFree |
| umls:C0017638 | Glioma | 2 | BeFree |
| umls:C0019163 | Hepatitis B | 2 | BeFree |
| umls:C0023418 | leukemia | 2 | BeFree |
| umls:C0023895 | Liver diseases | 2 | BeFree |
| umls:C0023903 | Liver neoplasms | 2 | BeFree |
| umls:C0024530 | Malaria | 2 | BeFree |
| umls:C0024623 | Malignant neoplasm of stomach | 2 | BeFree |
| umls:C0025202 | melanoma | 2 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 2 | BeFree |
| umls:C0036572 | Seizures | 2 | BeFree |
| umls:C0038358 | Gastric ulcer | 2 | BeFree |
| umls:C0085584 | Encephalopathies | 2 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree |
| umls:C0333519 | Caries (morphologic abnormality) | 2 | BeFree |
| umls:C0376329 | New Variant Creutzfeldt-Jakob Disease | 2 | BeFree |
| umls:C0393593 | Dystonia Disorders | 2 | BeFree |
| umls:C0497327 | Dementia | 2 | BeFree |
| umls:C0524620 | Metabolic Syndrome X | 2 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 2 | BeFree |
| umls:C0699790 | Colon Carcinoma | 2 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
| umls:C0750929 | Arnold-Chiari Malformation, Type I | 2 | BeFree |
| umls:C1857941 | Brooke-Spiegler syndrome | 2 | BeFree |
| umls:C0001849 | AIDS Dementia Complex | 1 | BeFree |
| umls:C0003076 | Aniridia | 1 | BeFree |
| umls:C0003850 | Arteriosclerosis | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | BeFree |
| umls:C0006118 | Brain Neoplasms | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
| umls:C0007570 | Celiac Disease | 1 | BeFree |
| umls:C0007682 | CNS disorder | 1 | BeFree |
| umls:C0009324 | Ulcerative Colitis | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| umls:C0012546 | Diphtheria | 1 | BeFree |
| umls:C0017154 | Gastritis, Atrophic | 1 | BeFree |
| umls:C0019196 | Hepatitis C | 1 | BeFree |
| umls:C0021400 | Influenza | 1 | BeFree |
| umls:C0022602 | Actinic keratosis | 1 | BeFree |
| umls:C0023440 | Acute Erythroblastic Leukemia | 1 | BeFree |
| umls:C0023443 | Hairy Cell Leukemia | 1 | BeFree |
| umls:C0023531 | Leukoplakia | 1 | BeFree |
| umls:C0023890 | Liver Cirrhosis | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0024301 | Lymphoma, Follicular | 1 | BeFree |
| umls:C0026010 | Microphthalmos | 1 | BeFree |
| umls:C0026703 | Mucopolysaccharidoses | 1 | BeFree |
| umls:C0026847 | Spinal Muscular Atrophy | 1 | BeFree |
| umls:C0026918 | Mycobacterium Infections | 1 | BeFree |
| umls:C0030920 | Peptic Ulcer | 1 | BeFree |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| umls:C0032584 | polyps | 1 | BeFree |
| umls:C0039614 | Tetanus | 1 | BeFree |
| umls:C0085648 | Synovial Cyst | 1 | BeFree |
| umls:C0153633 | Malignant neoplasm of brain | 1 | BeFree |
| umls:C0153676 | Secondary malignant neoplasm of lung | 1 | BeFree |
| umls:C0206042 | Fatal Familial Insomnia | 1 | BeFree |
| umls:C0206708 | Cervical Intraepithelial Neoplasia | 1 | BeFree |
| umls:C0234458 | Dream disorder | 1 | BeFree |
| umls:C0238463 | Papillary thyroid carcinoma | 1 | BeFree |
| umls:C0239849 | Harlequin Fetus | 1 | BeFree |
| umls:C0242723 | Parasitemia | 1 | BeFree |
| umls:C0259782 | Telangiectatic osteosarcoma | 1 | BeFree |
| umls:C0262404 | Cerebellar degeneration | 1 | BeFree |
| umls:C0263641 | Epithelial hyperplasia of skin | 1 | BeFree |
| umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
| umls:C0279543 | Philadelphia chromosome positive chronic myelogenous leukemia | 1 | BeFree |
| umls:C0280100 | Solid tumour | 1 | BeFree |
| umls:C0281361 | Adenocarcinoma of pancreas | 1 | BeFree |
| umls:C0338656 | Impaired cognition | 1 | BeFree |
| umls:C0339901 | Acute respiratory infections | 1 | BeFree |
| umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
| umls:C0473583 | Nevus elasticus | 1 | BeFree |
| umls:C0524851 | Neurodegenerative Disorders | 1 | BeFree |
| umls:C0587248 | Costello syndrome (disorder) | 1 | BeFree |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0686353 | Muscular Dystrophies, Limb-Girdle | 1 | BeFree |
| umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
| umls:C0729233 | Dissecting aneurysm of the thoracic aorta | 1 | BeFree |
| umls:C0740279 | Cerebellar atrophy | 1 | BeFree |
| umls:C0751254 | Creutzfeldt-Jakob Disease, Familial | 1 | BeFree |
| umls:C0878544 | Cardiomyopathies | 1 | BeFree |
| umls:C0917801 | Sleeplessness | 1 | BeFree |
| umls:C1096063 | Drug Resistant Epilepsy | 1 | BeFree |
| umls:C1258666 | Myxoid cyst | 1 | BeFree |
| umls:C1261473 | Sarcoma | 1 | BeFree |
| umls:C1274408 | Chronic plaque-like oral candidiasis | 1 | BeFree |
| umls:C1333978 | Hepatitis C Virus-Related Hepatocellular Carcinoma | 1 | BeFree |
| umls:C1335302 | Pancreatic Ductal Adenocarcinoma | 1 | BeFree |
| umls:C1623038 | Cirrhosis | 1 | BeFree |
| umls:C1704429 | Hypoalphalipoproteinemia, Familial | 1 | BeFree |
| umls:C1840264 | IMMUNE SUPPRESSION | 1 | BeFree |
| umls:C1852467 | Creutzfeldt-Jakob Disease, Sporadic | 1 | BeFree |
| umls:C1859372 | Calcification of Joints and Arteries | 1 | BeFree |
| umls:C2931838 | Familial HDL deficiency | 1 | BeFree |
| umls:C3281027 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 | 1 | CLINVAR,UNIPROT |
| umls:C1306229 | Dyschromatosis universalis | 0 | ORPHANET |
| umls:C1836705 | Pseudohyperkalemia, Familial, 2, due to Red Cell Leak | 0 | CLINVAR,ORPHANET |
| umls:C3276339 | BLOOD GROUP, LANGEREIS SYSTEM | 0 | CLINVAR |
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