MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.

Abstract:

: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 broad array of annotation topics in 15 sections, including Summaries, Symptoms, Anatomical Context, Drugs, Genetic Tests, Variations and Publications. The Aliases and Classifications section reflects an algorithm for disease name integration across often-conflicting sources, providing effective annotation consolidation. A central feature is a balanced Genes section, with scores reflecting the strength of disease-gene associations. This is accompanied by other gene-related disease information such as pathways, mouse phenotypes and GO-terms, stemming from MalaCards' affiliation with the GeneCards Suite of databases. MalaCards' capacity to inter-link information from complementary sources, along with its elaborate search function, relational database infrastructure and convenient data dumps, allows it to tackle its rich disease annotation landscape, and facilitates systems analyses and genome sequence interpretation. MalaCards adopts a 'flat' disease-card approach, but each card is mapped to popular hierarchical ontologies (e.g. International Classification of Diseases, Human Phenotype Ontology and Unified Medical Language System) and also contains information about multi-level relations among diseases, thereby providing an optimal tool for disease representation and scrutiny.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Rappaport N,Twik M,Plaschkes I,Nudel R,Iny Stein T,Levitt J,Gershoni M,Morrey CP,Safran M,Lancet D

doi

10.1093/nar/gkw1012

subject

Has Abstract

pub_date

2017-01-04 00:00:00

pages

D877-D887

issue

D1

eissn

0305-1048

issn

1362-4962

pii

gkw1012

journal_volume

45

pub_type

杂志文章,评审
  • Ionic strength effects on the stability and conformation of Penicillium chrysogenum mycophage double stranded RNA.

    abstract::The effect of [Na+] on the stability and conformation of penicillium chrysogenum mycophage dsRNA (PCMdsRNA) was investigated using CD and UV optical techniques. Thermal melting profiles reveal prominent fine structure attributed to at least four regions of structural dissimilarity. A constant increased thermal stabili...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/2.6.759

    authors: Burnett JP,Frank BH,Douthart RJ

    更新日期:1975-06-01 00:00:00

  • Hydropathic analysis of the free energy differences in anthracycline antibiotic binding to DNA.

    abstract::Molecular models of six anthracycline antibiotics and their complexes with 32 distinct DNA octamer sequences were created and analyzed using HINT (Hydropathic INTeractions) to describe binding. The averaged binding scores were then used to calculate the free energies of binding for comparison with experimentally deter...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkg645

    authors: Cashman DJ,Scarsdale JN,Kellogg GE

    更新日期:2003-08-01 00:00:00

  • Molecular evolution of protein-RNA mimicry as a mechanism for translational control.

    abstract::Elongation factor P (EF-P) is a conserved ribosome-binding protein that structurally mimics tRNA to enable the synthesis of peptides containing motifs that otherwise would induce translational stalling, including polyproline. In many bacteria, EF-P function requires post-translational modification with (R)-β-lysine by...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkt1296

    authors: Katz A,Solden L,Zou SB,Navarre WW,Ibba M

    更新日期:2014-03-01 00:00:00

  • Transposition of Mutator-like transposable elements (MULEs) resembles hAT and Transib elements and V(D)J recombination.

    abstract::Mutator-like transposable elements (MULEs) are widespread across fungal, plant and animal species. Despite their abundance and importance as genetic tools in plants, the transposition mechanism of the MULE superfamily was previously unknown. Discovery of the Muta1 element from Aedes aegypti and its successful transpos...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkx357

    authors: Liu K,Wessler SR

    更新日期:2017-06-20 00:00:00

  • Human protein reference database--2006 update.

    abstract::Human Protein Reference Database (HPRD) (http://www.hprd.org) was developed to serve as a comprehensive collection of protein features, post-translational modifications (PTMs) and protein-protein interactions. Since the original report, this database has increased to >20 000 proteins entries and has become the largest...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkj141

    authors: Mishra GR,Suresh M,Kumaran K,Kannabiran N,Suresh S,Bala P,Shivakumar K,Anuradha N,Reddy R,Raghavan TM,Menon S,Hanumanthu G,Gupta M,Upendran S,Gupta S,Mahesh M,Jacob B,Mathew P,Chatterjee P,Arun KS,Sharma S,Chand

    更新日期:2006-01-01 00:00:00

  • The relationship between the prothrombin upstream sequence element and the G20210A polymorphism: the influence of a competitive environment for mRNA 3'-end formation.

    abstract::The human prothrombin G20210A polymorphism located at the 3' cleavage site of the mRNA results in elevated plasma prothrombin levels and increased risk of venous thrombosis. This polymorphism has been shown to directly influence a variety of processes related to prothrombin mRNA metabolism. We have constructed plasmid...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki245

    authors: Sachchithananthan M,Stasinopoulos SJ,Wilusz J,Medcalf RL

    更新日期:2005-02-17 00:00:00

  • MTR-Viewer: identifying regions within genes under purifying selection.

    abstract::Advances in genomic sequencing have enormous potential to revolutionize personalized medicine, however distinguishing disease-causing from benign variants remains a challenge. The increasing number of human genome and exome sequences available has revealed areas where unfavourable variation is removed through purifyin...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkz457

    authors: Silk M,Petrovski S,Ascher DB

    更新日期:2019-07-02 00:00:00

  • Gene expression: chemical synthesis and molecular cloning of a bacteriophage T5 (T5P25) early promoter.

    abstract::A sixty base pair DNA duplex containing the nucleotide sequence of the bacteriophage T5 early (T5P25) promoter has been constructed using a combination of chemical synthesis and enzymatic methods. Subsequent to cloning into pBR322, the promoter has been demonstrated to be biologically active being capable of directing...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/11.17.5921

    authors: Rommens J,MacKnight D,Pomeroy-Cloney L,Jay E

    更新日期:1983-09-10 00:00:00

  • DAP-like kinase interacts with the rat homolog of Schizosaccharomyces pombe CDC5 protein, a factor involved in pre-mRNA splicing and required for G2/M phase transition.

    abstract::DAP-like kinase (Dlk, also termed ZIP kinase) is a leucine zipper-containing serine/threonine-specific protein kinase with as yet unknown biological function(s). Interaction partners so far identified are either transcription factors or proteins that can support or counteract apoptosis. Thus, Dlk might be involved in ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/30.6.1408

    authors: Engemann H,Heinzel V,Page G,Preuss U,Scheidtmann KH

    更新日期:2002-03-15 00:00:00

  • Changes in transfer ribonucleic acids of Bacillus subtilis during different growth phases.

    abstract::The transfer ribonucleic acids (tRNAs) of B. subtilis at different growth phases are examined for changes in the composition and the methylation of minor constituents. The composition of the tRNAs indicates about equal amounts of adenosine and uridine, and of guanosine and cytidine. About 3-4 residues are present as m...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/3.5.1249

    authors: Singhal RP,Vold B

    更新日期:1976-05-01 00:00:00

  • Nucleotide sequence and newly formed phosphodiester bond of spontaneously ligated satellite tobacco ringspot virus RNA.

    abstract::The satellite RNA of tobacco ringspot virus (STobRV RNA) replicates and becomes encapsidated in association with tobacco ringspot virus. Previous results show that the infected tissue produces multimeric STobRV RNAs of both polarities. RNA that is complementary to encapsidated STobRV RNA, designated as having the (-) ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/14.24.9729

    authors: Buzayan JM,Hampel A,Bruening G

    更新日期:1986-12-22 00:00:00

  • Autoregulation of phage mu transposase at the level of translation.

    abstract::The bacteriophage Mu A and B genes, which lie adjacent to each other and are colinear on the phage genome, encode proteins that catalyze efficient transposition of Mu DNA. We show that the molar ratio of A and B proteins is approximately 1:20 in extracts prepared after induction of cells containing a Mu lysogen or a p...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/16.23.11285

    authors: Parsons RL,Harshey R

    更新日期:1988-12-09 00:00:00

  • Peptidyl transferase centre of bacterial ribosomes: substrate specificity and binding sites.

    abstract::A detailed scheme of the Peptidyl Transferase Centre of bacterial ribosomes is proposed by summarizing the literature data on the substrate specificity of the acceptor and donor sites. According to the proposed scheme only the elements of the donor and acceptor having a stable structure bind with the ribosome. The pre...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/2.12.2223

    authors: Krayevsky AA,Kukhanova MK,Gottikh BP

    更新日期:1975-12-01 00:00:00

  • Two-dimensional conformation-dependent electrophoresis (2D-CDE) to separate DNA fragments containing unmatched bulge from complex DNA samples.

    abstract::DNA fragments containing mispaired and modified bases, bulges, lesions and specific sequences have altered conformation. Methods for separating complex samples of DNA fragments based on conformation but independent of length have many applications, including (i) separation of mismatched or unmatched DNA fragments from...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gnh018

    authors: Gunnarsson GH,Thormar HG,Gudmundsson B,Akesson L,Jonsson JJ

    更新日期:2004-02-03 00:00:00

  • A diminutive and specific RNA binding site for L-tryptophan.

    abstract::Selection for amino acid affinity by elution of RNAs from tryptophan-Sepharose using free L-tryptophan evokes one sequence predominantly (K(D) = 12 microM), a symmetrical internal loop of 3 nt per side. Though we have also isolated larger sequences with affinity for tryptophan, successively squeezed selection in rando...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki861

    authors: Majerfeld I,Yarus M

    更新日期:2005-09-25 00:00:00

  • In vitro non-viral gene delivery with nanofibrous scaffolds.

    abstract::Extracellular and intracellular barriers typically prevent non-viral gene vectors from having an effective transfection efficiency. Formulation of a gene delivery vehicle that can overcome the barriers is a key step for successful tissue regeneration. We have developed a novel core-shelled DNA nanoparticle by invoking...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gni171

    authors: Liang D,Luu YK,Kim K,Hsiao BS,Hadjiargyrou M,Chu B

    更新日期:2005-11-03 00:00:00

  • Electron microscopic localization of the chloroplast DNA replicative origins in Chlamydomonas reinhardii.

    abstract::Chloroplast DNA, isolated from a synchronized culture of Chlamydomonas reinhardii, was digested with restriction endonucleases and examined in the electron microscope. Restriction fragments containing displacement loops (D-loop) were photographed and measured to determine the position of replicated sequences in relati...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/12.9.3843

    authors: Waddell J,Wang XM,Wu M

    更新日期:1984-05-11 00:00:00

  • The SINEB1 element in the long non-coding RNA Malat1 is necessary for TDP-43 proteostasis.

    abstract::Transposable elements (TEs) comprise a large proportion of long non-coding RNAs (lncRNAs). Here, we employed CRISPR to delete a short interspersed nuclear element (SINE) in Malat1, a cancer-associated lncRNA, to investigate its significance in cellular physiology. We show that Malat1 with a SINE deletion forms diffuse...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkz1176

    authors: Nguyen TM,Kabotyanski EB,Reineke LC,Shao J,Xiong F,Lee JH,Dubrulle J,Johnson H,Stossi F,Tsoi PS,Choi KJ,Ellis AG,Zhao N,Cao J,Adewunmi O,Ferreon JC,Ferreon ACM,Neilson JR,Mancini MA,Chen X,Kim J,Ma L,Li W,Ro

    更新日期:2020-03-18 00:00:00

  • A novel method for determining linkage between DNA sequences: hybridization to paired probe arrays.

    abstract::Cooperative hybridization has been used to establish physical linkage between two loci on a DNA strand. Linkage was detected by hybridization to a new type of high-density oligonucleotide array. Each synthesis location on the array contains a mixture of two different probe sequences. Each of the two probes can hybridi...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/27.6.1485

    authors: Gentalen E,Chee M

    更新日期:1999-03-15 00:00:00

  • Padlock oligonucleotides as a tool for labeling superhelical DNA.

    abstract::Labeling of a covalently closed circular double-stranded DNA was achieved using a so-called 'padlock oligonucleotide'. The oligonucleotide was targeted to a sequence which is present in the replication origin of phage f1 and thus in numerous commonly used plasmids. After winding around the double-stranded target DNA s...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/30.3.e12

    authors: Roulon T,Coulaud D,Delain E,Le Cam E,Hélène C,Escudé C

    更新日期:2002-02-01 00:00:00

  • Sequence determination of nucleic acids containing 5-methylisocytosine and isoguanine: identification and insight into polymerase replication of the non-natural nucleobases.

    abstract::Nucleobase analogs 5-methylisocytosine ((Me)isoC) and isoguanine (isoG) form a non-natural base pair in duplex nucleic acids with base pairing specificity orthogonal to the natural nucleobase pairs. Sequencing reactions were conducted with oligodeoxyribonucleotides (ODNs) containing d(Me)isoC and disoG using modified ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki628

    authors: Ahle JD,Barr S,Chin AM,Battersby TR

    更新日期:2005-06-02 00:00:00

  • Quantitative analysis of conditional gene inactivation using rationally designed, tetracycline-controlled miRNAs.

    abstract::The combination of RNA interference (RNAi) with the tetracycline-controlled transcription activation (tet) system promises to become a powerful method for conditional gene inactivation in cultured cells and in whole organisms. Here, we tested critical sequence elements that originated from miRNA mR-30 for optimal effi...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkq616

    authors: Berger SM,Pesold B,Reber S,Schönig K,Berger AJ,Weidenfeld I,Miao J,Berger MR,Gruss OJ,Bartsch D

    更新日期:2010-09-01 00:00:00

  • Regulation of gene amplification and expression in cells that constitutively express a temperature sensitive SV40 T-antigen.

    abstract::Simian cells have been transformed with SV40 origin-defective recombinant plasmids containing the tsA209 T-antigen gene. These plasmids contain deletions of either 5 or 52 nucleotides that include the BglI site at the SV40 ori, are defective for replication in COS-1 cells but retain a functional SV40 early promoter. T...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/13.22.7913

    authors: Portela A,de la Luna S,Melero JA,Vara J,Jiménez A,Ortín J

    更新日期:1985-11-25 00:00:00

  • Noncoding RNAs database (ncRNAdb).

    abstract::The noncoding RNA database (ncRNAdb) was created as a source of information on RNA molecules, which do not possess protein-coding capacity. It is now widely accepted that, in addition to constitutively expressed, housekeeping or infrastructural RNAs, there is a wide variety of RNAs participating in mechanisms involved...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkl994

    authors: Szymanski M,Erdmann VA,Barciszewski J

    更新日期:2007-01-01 00:00:00

  • Helix opening in deoxyribonucleic acid from a proton nuclear magnetic resonance study of imino and amino protons in d(CG)3.

    abstract::All exchangeable protons in a short DNA helix, d(CG)3 sodium salt, have been studied by proton nuclear magnetic resonance. The cytidine and guanosine amino protons have been assigned for the first time. As a function of temperature the cytidine amino protons and the imino protons behave very similarly, their relaxatio...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/12.21.8269

    authors: Fazakerley GV,van der Marel GA,van Boom JH,Guschlbauer W

    更新日期:1984-11-12 00:00:00

  • The Comparative Toxicogenomics Database: update 2019.

    abstract::The Comparative Toxicogenomics Database (CTD; http://ctdbase.org/) is a premier public resource for literature-based, manually curated associations between chemicals, gene products, phenotypes, diseases, and environmental exposures. In this biennial update, we present our new chemical-phenotype module that codes chemi...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gky868

    authors: Davis AP,Grondin CJ,Johnson RJ,Sciaky D,McMorran R,Wiegers J,Wiegers TC,Mattingly CJ

    更新日期:2019-01-08 00:00:00

  • Evolutionarily divergent spliceosomal snRNAs and a conserved non-coding RNA processing motif in Giardia lamblia.

    abstract::Non-coding RNAs (ncRNAs) have diverse essential biological functions in all organisms, and in eukaryotes, two such classes of ncRNAs are the small nucleolar (sno) and small nuclear (sn) RNAs. In this study, we have identified and characterized a collection of sno and snRNAs in Giardia lamblia, by exploiting our discov...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gks887

    authors: Hudson AJ,Moore AN,Elniski D,Joseph J,Yee J,Russell AG

    更新日期:2012-11-01 00:00:00

  • TurboFold II: RNA structural alignment and secondary structure prediction informed by multiple homologs.

    abstract::This paper presents TurboFold II, an extension of the TurboFold algorithm for predicting secondary structures for multiple RNA homologs. TurboFold II augments the structure prediction capabilities of TurboFold by additionally providing multiple sequence alignments. Probabilities for alignment of nucleotide positions b...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkx815

    authors: Tan Z,Fu Y,Sharma G,Mathews DH

    更新日期:2017-11-16 00:00:00

  • UV stalled replication forks restart by re-priming in human fibroblasts.

    abstract::Restarting stalled replication forks is vital to avoid fatal replication errors. Previously, it was demonstrated that hydroxyurea-stalled replication forks rescue replication either by an active restart mechanism or by new origin firing. To our surprise, using the DNA fibre assay, we only detect a slightly reduced for...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkr420

    authors: Elvers I,Johansson F,Groth P,Erixon K,Helleday T

    更新日期:2011-09-01 00:00:00

  • Ensembl 2021.

    abstract::The Ensembl project (https://www.ensembl.org) annotates genomes and disseminates genomic data for vertebrate species. We create detailed and comprehensive annotation of gene structures, regulatory elements and variants, and enable comparative genomics by inferring the evolutionary history of genes and genomes. Our int...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkaa942

    authors: Howe KL,Achuthan P,Allen J,Allen J,Alvarez-Jarreta J,Amode MR,Armean IM,Azov AG,Bennett R,Bhai J,Billis K,Boddu S,Charkhchi M,Cummins C,Da Rin Fioretto L,Davidson C,Dodiya K,El Houdaigui B,Fatima R,Gall A,Garcia G

    更新日期:2021-01-08 00:00:00