Tag: human genes and diseases

The International Genome Sample Resource (IGSR) was established to ensure the ongoing usability of data generated by the 1000 Genomes Project and to extend the data set. The 1000 Genomes Project ran between 2008 and 2015, creating the largest public ...

The cBioPortal for Cancer Genomics provides visualization, analysis and download of large-scale cancer genomics data sets.

DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific liter ...

The Catalogue of Somatic Mutations in Cancer (COSMIC) is a database of manually-curated somatic mutation information relating to human cancers. The COSMIC database combines manually-curated data and genome-wide screen data.

The Database of Genotypes and Phenotypes (dbGaP) archives and distributes the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular dia ...

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variat ...

PharmGKB is a resource that provides information about how human genetic variation affects response to medications. PharmGKB collects, curates and disseminates knowledge about clinically actionable gene-drug associations and genotype-phenotype relati ...

GeneCards is a searchable, integrated, database of human genes that provides concise genomic, transcriptomic, genetic, proteomic, functional and disease related information on all known and predicted human genes.

HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can b ...

BRCA Share is a novel gene datashare initiative that provides scientists and commercial laboratory organizations around the world with open access to BRCA Share (formerly UMD-BRCA1) contains BRCA1 and BRCA2 genetic data. The program’s goal is to acce ...

dbVar is a database of human genomic structural variation where users can search, view, and download data from submitted studies. dbVar stopped supporting data from non-human organisms in 2017, however existing non-human data remains available. In ke ...

The Database of Genomic Variants (DGV) is a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations.

The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature, databases and unpublished data.

Part of the Progenetix project, the arrayMap database facilitates the study of the genetics of human cancer. The Progenetix project provides the data customisation and visualization tools to mine the available data. The arrayMap database is developed ...

DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) is an interactive web-based resource that incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversion ...

The Allele Frequency Net Database (AFND) provides the scientific community with a freely available repository for the storage of frequency data (alleles, genes, haplotypes and genotypes) related to human leukocyte antigens (HLA), killer-cell immunogl ...

This database enables the reliable identification of an individual Interferon Regulated Gene (IRG) or IRG signatures from high-throughput data sets (i.e. microarray, proteomic data etc.). It also assists in identifying regulatory elements, chromosoma ...

The Progenetix database provides an overview of copy number abnormalities in human cancer from Comparative Genomic Hybridization (CGH) experiments. With 30817 cases from 1016 publications (Oct 2013), Progenetix is the largest curated database for who ...

The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. ...

canSAR is an integrated cancer research and drug discovery resource that brings together large-scale data from different disciplines and allows query and exploration to help cancer research and drug discovery.

SNPeffect is a database for phenotyping human single nucleotide polymorphisms (SNPs). SNPeffect primarily focuses on the molecular characterization and annotation of disease and polymorphism variants in the human proteome. Further, SNPeffect holds pe ...

SNPedia is a wiki resource of the functional consequences of human genetic variation as published in peer-reviewed studies. Entries are formatted to allow associations to be assigned to single genotypes as well as sets of genotypes (genosets). Curati ...

GWASdb comprises of collections of traits/diseases associated SNP (TASs) from current GWAS and their comprehensive functional annotations, as well as disease classifications.

This database is compiled from the human genome nucleotide sequences obtained mostly in the Human Genome Projects. The database makes it possible to continuously improve classification and characterization of retroviral families. The HERV database no ...

The MalaCards human disease database (http://www. malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources. MalaCards has a web card for each of ∼20 000 disease entries, in six global categories. It portrays a broa ...

A registry of Hereditary Auto-inflammatory Disorder Mutations.

The Network of Cancer Genes (NCG) contains information on duplicability, evolution, protein-protein and microRNA-gene interaction, function, expression and essentiality of cancer genes from manually curated publications . NCG also provides informatio ...

The goal of the Gene Wiki is to apply community intelligence to the annotation of gene and protein function. The Gene Wiki is an informal collection of pages on human genes and proteins, and this effort to develop these pages is tightly coordinated w ...

The DGVa team accepts direct submissions from researchers and also curates data from the published literature. As part of a regular exchange, DGVa data is sent to its partner archive, dbVar (hosted by the National Center for Biotechnology Information ...

Autism genetics KnowledgeBase, an evidence-based knowledgebase of autism genetics.

The Human Ageing Genomic Resources (HAGR) is a collection of databases and tools for the biology and genetics of ageing. HAGR features several databases with high-quality, manually-curated data: 1) GenAge, a database of genes associated with ageing i ...

Selectome is a database of positive selection, based on a branch-site likelihood test. Release 6 of Selectome includes all gene trees from Ensembl for Primates and Glires, as well as a large set of vertebrate gene trees.

The goal of MutDB is to annotate human variation data with protein structural information and other functionally relevant information, if available. The mutations are organized by gene. Click on the alphabet below to go alphabetically through the lis ...

The human disease methylation database, DiseaseMeth is a web based resource focused on the aberrant methylomes of human diseases. Until recently, bulks of large-scale data are avaible and are increasingly grown, from which more information can be min ...

Proteins involved in self-digestion of eukaryotic cells

DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time detailed information on genes and associated genetic variants involved in digenic diseases, the simplest form of oligogenic inheritance.

ChimerDB is a database of fusion sequences encompassing bioinformatics analysis of mRNA and EST sequences in the GenBank, manual collection of literature data and integration with other well known databases. Fusion transcripts with nonoverlapping ali ...

Polymorphic miRNA-mediated gene regulation in vertebrates

The Selective Targets database (SelTarbase ) is a curated database of public MNR mutation data in microsatellite unstable human tumors. A comprehensive database of all human coding, untranslated, non-coding RNA- and intronic MNRs (MNR_ensembl) is als ...

The tumor-associated gene (TAG) database was designed to utilize information from well-characterized oncogenes and tumor suppressor genes to facilitate cancer research. All target genes were identified through text-mining approach from the PubMed dat ...

Experimentally validated anticancer peptides

The database of human DNA Methylation and Cancer (MethyCancer) is developed to study interplay of DNA methylation, gene expression and cancer. It hosts both highly integrated data of DNA methylation, cancer-related gene, mutation and cancer informati ...

Cervical cancer gene database

The dbDEPC is a database of differentially expressed proteins in human cancers.

The Candidate Cancer Gene Database (CCGD) was developed to disseminate the results of transposon-based forward genetic screens in mice that identify candidate cancer genes. The purpose of the database is to allow cancer researchers to quickly determi ...

Integrated Genomic Database of Non-Small Cell Lung Cancer.

DriverDB, a database that incorporates >9500 cancer-related RNA-seq datasets and >7000 more exome-seq datasets, in addition to annotation databases and published bioinformatics algorithms dedicated to driver gene/mutation identification. Seven additi ...

The Resource of Asian Primary Immunodeficiency Diseases (RAPID) is a repository of molecular alterations in primary immunodeficiency diseases (PID). It hosts information on sequence variations and expression at the mRNA and protein levels of all gene ...

Coronary Artery Disease gene database

Dr.VIS collects and locates human disease-related viral integration sites. So far, about 600 sites covering 5 virus organisms and 11 human diseases are available. Integration sites in Dr.VIS are located against chromesome, cytoband, gene and refseq p ...

The DistiLD database aims to increase the usage of existing genome-wide association studies (GWAS) results by making it easy to query and visualize disease-associated SNPs and genes in their chromosomal context.

Blood Group Antigen Gene Mutation Database

The AlloMAPS database provides data on the energetics of communication in proteins with well-documented allosteric regulation, allosteric signalling in PDBselect chains, and allosteric effects of mutations. In addition to energetics of allosteric sig ...

Cancer-relevant proteins and compound interactions

The UCSC Cancer Genomics Browser is a web-based tool to integrate, visualize and analyze cancer genomics and clinical data. The browser displays whole-genome views of experimental measurements for multiple samples, alongside their associated clinical ...

Essential gene profiles in human cancer cell lines

A genetic database for attention deficit hyperactivity disorder. ADHDgene aims to provide research community with a central genetic resource and analysis platform for ADHD, to help unveil the genetic basis of ADHD and to contribute to global mental h ...

An integrated database of human coding single nucleotide polymorphisms (SNPs) and their annotations.

The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relation ...

Database of Chromosomal Rearrangements In Diseases

Colorectral Cancer Atlas is an web-based resource which integrates genomic and proteomic pertaining to colorectal cancer cell lines and tissues. Data catalogued includes, quantitative and non-quantitative protein expression, sequence variations, cell ...

The Centre for Arab Genomic Studies (CAGS) initiated the ambitious project to establish the CTGA (Catalogue of Transmission Genetics in Arabs) database for genetic disorders in Arabs with the aim to enlighten the scientific community and the public o ...

Polymorphic inversions in the human genome

Database of Human Lung Cancer Research

The YH database presents the entire DNA sequence of a Han Chinese individual, as a representative of Asian population. This genome, named as YH, is the start of YanHuang Project, which aims to sequence 100 Chinese individuals in 3 years.assembled bas ...

Indian Genetic Disease Database

Nervous System Disease NcRNAome Atlas

Lnc2Cancer 3.0 includes comprehensive data on experimentally supported long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) associated with human cancers. In addition, web tools for analyzing lncRNA expression by high-throughput RNA sequencing ...

Autosomal monoallelic expression (MAE) refers to mitotically stable, epigenetically controlled allele-specific expression of autosomal genes, with the initial non-predetermined ('random') choice of thetranscriptional activity of the two alleles maint ...

Comparison system for cancer stem cell analysis

Cancer SNP data on copy number alterations

Mouse Indel Polymorphism Database

GWAS prioritization tool

Somatic mutation hotspots in protein domains in cancer

FINDbase (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disord ...

PhenoModifier is a genetic modifier database for elucidating the genetic basis of human phenotypic variation. PhenoModifier provides a more complete spectrum of genetic factors contributing to human phenotypic variation and the portal has a broad sci ...

IntOGen is a framework for automatic and comprehensive knowledge extraction based on mutational data from sequenced tumor samples from patients. The framework identifies cancer genes and pinpoints their putative mechanism of action across tumor types ...

mirDNMR is a database for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by f ...

denovo-db is a collection of germline de novo variants identified in the human genome. de novo variants are those present in children but not their parents.

CarpeDB serves as a novel source for epilepsy researchers by featuring scores of "epilepsy genes" and associated publications in one locus. Furthermore, multiple genes implicated in epilepsy are also implicated in other human disorders.

Gene copy number changes in cancer

The Type 2 Diabetes Knowledge Portal is an open-access resource for human genetic information on type 2 diabetes (T2D). It is a central repository for data from large genomic studies that identify DNA variants whose presence is linked to altered risk ...

Ageing factors, phenotypes and lifespan data

A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for t ...

With the rapid progress of the HLPP (Human Liver Proteome Project), a massive quantity of liver proteome expression profile data has been generated. To manage the valuable resource effectively and present it for researchers, a web-based database of l ...

Genes to Cognition

Various types of human gene polymorphism

Tumor Suppressor Gene database

Genes and mutations related to epilepsy

DNA methylation in human cancer

Genes, diseases, and pathways associated with PolyCystic Ovary Syndrome

Associations between genes methylated in diseases

A compilation of human mutation databases

Differentially expressed miRNAs in human cancers

Cancer-Testis Antigens database

Database of human anatomy, represented as 3D anatomical concepts

Public angiogenesis research portal

Annotated SNPs within regulatory DNA elements

Mapping of cancer mutations to protein structures

Prostate and prostatic diseases gene database

A database of recent positive selection across human populations

Breast Cancer Campaign Tissue Bank bioinformatics portal

SchiZophrenia Gene Resource

Functional effects of various human SNPs

Human haemoglobin variants and thalassemias

Genes transcribed in differentiating human erythroid cells

Disease-related non-synonymous mutations

Single Amino acid polymorphisms: SNP-derived variation in human proteins

Mutations of Kinases in Cancer

A compendium of cell line expression profiles by microarray analysis

Re-sequenced SNPs from 102 reference samples

Evolutionary genomics of pregnancy-related tissues and phenotypes

Disease gene conserved sequence tags

Open Teratoma Investigation: images of teratomas derived from stem cells

Chromosomal breakpoints and affected genes

X-linked severe combined immunodeficiency mutations

Families of proteins functioning in the eye

Sequence-tagged sites in the human Y chromosome

Kaleidoscope of gEne Responses to Inflammation among Species

VarySysDB Disease Edition: Disease-associated genomic polymorphisms

Topographic database of non-synonymous SNPs

Human ageing-related data

Breakpoint profiles of CANcer genomes

Signature of selection in the human genomes

Mutation Database for Parkinson's Disease

FusionCancer - a database of cancer fusion genes derived from RNA-Seq data

Autoimmune lymphoproliferative syndrome database

Interactive SNP annotation, selection and prioritization system for genotyping projects and/or analysis and interpretation of SNP data.

Database for the eukaryotic DNA replication community

ImmunoBase is a web based resource focused on the genetics and genomics of immunologically related human diseases. Our mission is to provide a curated and integrated set of datasets and tools, across multiple diseases, to support and promote research ...

Disease mutations in the Cypriot population

Estrogen responsive genes database

Clustering of homeobox genes

Oncogenomic database of hepatocellular carcinoma

KBERG is a database to decipher the functional association of Estrogen Responsive Genes, espcially the transcriptional regulation and functional classification of ERG.

Plasma membrane protein sequences, literature, and expression database

Mutations in the OCRL1 gene encoding phosphatidylinositol-4,5-bisphosphate 5-phosphatase

Microsatellite markers genotyped in Taiwanese populations

HDBase is a community website for Huntington's Disease (HD) research. Presently, contains protein-protein interaction data centered around the HD protein (huntingtin) and information on therapeutic studies in mouse.

HPTAA is a database of potential tumor-associated antigens that uses expression data from various expression platforms, including carefully chosen publicly available microarray expression data, GEO SAGE data and Unigene expression data.

Cancer Cell Metabolism Gene Database (ccmGDB) is a comprehensive annotation resource for cell metabolism genes in cancer. The objective of this database is to serve both the cancer cell metabolism and broader research communities by providing a usefu ...

NEIBank is a project for ocular genomics. This includes both the generation and analysis of new cDNA libraries for human and animal model eye tissues and the creation of a database and web site for eye-related expression data, known eye disease genes ...

A surprising finding in human transcriptome analysis is that protein-coding sequences only account for a small portion of the genome transcripts (1). The majority of the human genome transcripts are noncoding RNAs, in particular, long noncoding RNAs ...

ITTACA centralizes public datasets containing both microarray gene expression and clinical data of tumors. ITTACA currently focuses on breast carcinoma, bladder carcinoma, and uveal melanoma. A web interface allows users to carry out different class ...

The Disease Variant Store provides information on genetic variants observed in various disease populations. Users can quickly obtain frequencies, functional annotations, and known disease annotations by performing simple queries. Access to genetic va ...

The Genetics Home Reference is designed for patients and others to learn about specific genetic conditions and the genes that cause them. While the research results from the Human Genome Project are increasingly being made available in scientific dat ...

PhenomicDB is a multi-species genotype/phenotype database,integrating public genotype/phenotype data from a wide range of modelorganisms and Homo sapiens. Genotype and phenotype descriptions areobtained from Entrez Gene, OMIM, wormbase, flybase, and ...

Ethanol-Related Gene Resource (ERGR) is a comprehensive and useful gene resource to the Ethanol/Alcohol research community. Currently, the ERGR database contains more than 30 large datasets from literature and 21 mouse QTLs from public databases. The ...

The imprinted gene and parent-of-origin effect database (http://www.otago.ac.nz/IGC) consists of two sections. One section catalogues the current literature on imprinted genes in humans and animals. The second, and new, section catalogues current rep ...

The Human Intermediate Filament Database (http://www.interfil.org) was initiated by the Human Genetics Unit, University of Dundee in 2001 and was revised by the Centre for Molecular Medicine and the Bioinformatics Institute in Singapore in 2006, from ...

Perturbations of mammalian organisms including diseases, drug treatments and gene perturbations in mice affect organ systems differently. Some perturbations impair relatively few organ systems while others lead to highly heterogeneous or systemic eff ...

The genome sequence framework provided by the human genome project allows us to precisely map human genetic variations in order to study their association with disease and their direct effects on gene function. Since the description of tumor suppress ...

The GOLD.db (Genomics of Lipid-Associated Disorders Database) was developed to address the need for integrating disparate information on the function and properties of genes and their protein products that are particularly relevant to the biology, di ...

MPD is designed for providing a comprehensive, integrated and well-annotated resource, focusing on protein sequence-altering variations originated from both germline and cancer-associated somatic variations. The mutated protein sequence pool was base ...

The SNP Consortium website (http://snp.cshl.org) has undergone many changes since its initial conception three years ago. The database back end has been changed from the venerable ACeDB to the more scalable MySQL engine. Users can access the data via ...

Lynx (http://lynx.ci.uchicago.edu)is a web-based database and a knowledge extraction suite of tools designed specifically to support the discovery and hypothesis-based approaches to identification of genetic factors contributing to phenotypes or diso ...

The Human Induced Pluripotent Stem Cell Initiative (HipSci) isf establishing a large catalogue of human iPSC lines, arguably the most well characterized collection to date. The HipSci portal enables researchers to choose the right cell line for their ...

Olfactory receptors (ORs) constitute the largest multi-gene family in multi-cellular organisms. Their evolutionary proliferation has been driven by the need to provide recognition capacity for millions of potential odorants with arbitrary chemical co ...

Synaptic protein database (SynDB, available at http://syndb.cbi.pku.edu.cn), is a manually curated database of the molecular biology of the synapse proteome. It contains a comprehensive collection of proteins (13580 unique proteins spanning 650 spec ...

The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here we present the Collaborative Spanish Variabil ...

EndoNet is a new database that provides information about the components of endocrine networks and their relations. It focuses on the endocrine cell-to-cell communication and enables the analysis of intercellular regulatory pathways in humans. In the ...

The IARC TP53 database is a public web-based resource for the analysis and interpretation of the biological and clinical impacts of TP53 gene variations in human cancers (http://www-p53.iarc.fr/). It contains data that are compiled from the peer-revi ...

DIANA-TarBase v8 (http://www.microrna.gr/tarbase) is a reference database devoted to the indexing of experimentally supported microRNA (miRNA) targets. Its eighth version is the first database indexing >1 million entries, corresponding to ~670 000 un ...

Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability ...

dbRIP is a highly integrated database of Retrotransposon Insertion Polymorphism (RIPs) in human. It currently contains a non-redundant list of 1608 polymorphic Alus and 387 polymorphic L1s. In dbRIP, we deploy the utilities and genome annotation data ...

The AlzGene (http://www.alzgene.org) database aims to provide an unbiased, centralized, publicly available and regularly updated collection of genetic association studies performed on Alzheimer's disease (AD) phenotypes. Data is collected following s ...