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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EVC Gene

protein-coding   GIFtS: 48
GCID: GC04P005712

Ellis Van Creveld Syndrome

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ellis Van Creveld Syndrome1 2
DWF-12 3
EVC12
EVCL2
Ellis-Van Creveld Syndrome Protein2

External Ids:    HGNC: 34971   Entrez Gene: 21212   Ensembl: ENSG000000728407   OMIM: 6048315   UniProtKB: P576793   

Export aliases for EVC gene to outside databases

Previous GC identifers: GC04P005587 GC04M005935 GC04P005705 GC04P005777 GC04P005830


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EVC Gene:
This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated
in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. (provided by RefSeq, Jul 2008)

GeneCards Summary for EVC Gene: 
EVC (Ellis van Creveld syndrome) is a protein-coding gene. Diseases associated with EVC include evc-related ellis-van creveld syndrome, and weyers acrofacial dysostosis.

UniProtKB/Swiss-Prot: EVC_HUMAN, P57679
Function: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and
skeletal development (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006051.18  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EVC gene promoter:
         Elk-1   GATA-3   MEF-2   MIF-1   AP-4   Egr-4   Evi-1   MEF-2A   SEF-1 (1)   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for EVC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EVC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16   Ensembl cytogenetic band:  4p16.2   HGNC cytogenetic band: 4p16

EVC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EVC gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P005712:  view genomic region     (about GC identifiers)

Start:
5,712,924 bp from pter      End:
5,830,772 bp from pter
Size:
117,849 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EVC_HUMAN, P57679 (See protein sequence)
Recommended Name: Ellis-van Creveld syndrome protein  
Size: 992 amino acids; 111990 Da
Subunit: Interacts with EVC2 (By similarity)
Subcellular location: Cell membrane; Single-pass membrane protein (By similarity). Cytoplasm, cytoskeleton, cilium
basal body (By similarity). Cell projection, cilium (By similarity). Cell projection, cilium membrane (By
similarity). Note=EVC2 is required for the localization of EVC at the base of primary cilia (By similarity)

Explore the universe of human proteins at neXtProt for EVC: NX_P57679

Explore proteomics data for EVC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P57679

  • EVC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EVC Protein Expression
    REFSEQ proteins: NP_714928.1  
    ENSEMBL proteins: 
     ENSP00000264956   ENSP00000426774   ENSP00000372120  

    Human Recombinant Protein Products for EVC: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for EVC
    OriGene Protein Over-expression Lysate for EVC
    OriGene MassSpec for EVC 
    OriGene Custom Protein Services for EVC
    GenScript Custom Purified and Recombinant Proteins Services for EVC
    Novus Biologicals EVC Proteins
    Novus Biologicals EVC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EVC 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005929cilium IDA--
    GO:0005932microtubule basal body ISS--
    GO:0016021integral to membrane IEA--
    GO:0060170cilium membrane IEA--

    EVC for ontologies           About GeneDecksing



    EVC Antibody Products: 
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    Abcam antibodies for EVC
    Cloud-Clone Corp. Antibodies for EVC 
    ThermoFisher Antibodies for EVC
    LSBio Antibodies in human, mouse, rat for EVC 

    Assay Products for EVC: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EVC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EVC 
    Cloud-Clone Corp. CLIAs for EVC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026501 Limbin/Ellis-van_Creveld
     IPR026582 Evc

    Graphical View of Domain Structure for InterPro Entry P57679

    ProtoNet protein and cluster: P57679


    EVC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EVC_HUMAN, P57679
    Function: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and
    skeletal development (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    EVC for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Evc):
     behavior/neurological  cellular  craniofacial  growth/size  limbs/digits/tail 
     mortality/aging  reproductive system  skeleton 

    EVC for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EVC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EVC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EVC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EVC 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EVC
    1 QIAGEN miScript miRNA Assays for microRNA that regulate EVC:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidEVC 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EVC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EVC

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for EVC
    Sirion Biotech Customized adenovirus for overexpression of EVC

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EVC (see all 8)
    OriGene ORF clones in mouse, rat for EVC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EVC (NM_153717)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EVC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EVC
    Sirion Biotech Customized lentivirus for stable overexpression of EVC 
                         Customized lentivirus expression plasmids for stable overexpression of EVC 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EVC
    Search LifeMap BioReagents cell lines for EVC
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EVC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EVC

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10700184
    GO:0003416endochondral bone growth ISS--
    GO:0007224smoothened signaling pathway IEA--
    GO:0007517muscle organ development TAS10700184
    GO:0045880positive regulation of smoothened signaling pathway ISS--

    EVC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EVC

    Search CenterWatch for drugs/clinical trials and news about EVC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EVC gene (2 alternative transcripts): 
    NM_153717.2  NM_014556.2  

    Unigene Cluster for EVC:

    Ellis van Creveld syndrome
    Hs.646899  [show with all ESTs]
    Unigene Representative Sequence: AF216185
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264956(uc003gil.1) ENST00000509451 ENST00000514919 ENST00000506240
    ENST00000515113 ENST00000382674(uc003gim.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EVC
    1 QIAGEN miScript miRNA Assays for microRNA that regulate EVC:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidEVC 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EVC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EVC
    Clone
    Products:
         
    OriGene clones in human, mouse for EVC (see all 8)
    OriGene ORF clones in mouse, rat for EVC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EVC (NM_153717)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EVC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EVC
    Sirion Biotech Customized lentivirus for stable overexpression of EVC 
                         Customized lentivirus expression plasmids for stable overexpression of EVC 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for EVC
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EVC
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EVC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EVC

    Additional mRNA sequence: 

    AF216185.1 AF239742.1 AK025394.1 BC085608.1 

    8 DOTS entries:

    DT.91783263  DT.91783246  DT.92047587  DT.100715473  DT.100715472  DT.100737231  DT.92353232  DT.203977 

    24/158 AceView cDNA sequences (see all 158):

    BF329760 AF216185 BF329701 AI559994 AF239742 AF216184 BF823735 NM_153717 
    BE384172 NM_014556 AI336116 BF329697 BF329772 BQ073657 BP336597 AW025283 
    AJ708606 BE219554 BF359415 BM989103 BF329751 BU182800 BI868509 BF329743 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EVC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAAAAGTGA
    EVC Expression
    About this image


    See EVC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EVC

    SOURCE GeneReport for Unigene cluster: Hs.646899

    UniProtKB/Swiss-Prot: EVC_HUMAN, P57679
    Tissue specificity: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung

        SABiosciences Custom PCR Arrays for EVC
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for EVC
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EVC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EVC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EVC gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Evc1 , 5 Ellis van Creveld gene homolog (human)5
    Ellis van Creveld gene syndrome1
    75.84(n)1
    68.43(a)1
      5 (20.06 cM)5
    590561  NM_021292.21  NP_067267.21 
     372890985 
    chicken
    (Gallus gallus)
    Aves EVC1 Ellis van Creveld syndrome 59.69(n)
    50.16(a)
      422851  NM_001005347.1  NP_001005347.1 


    ENSEMBL Gene Tree for EVC (if available)
    TreeFam Gene Tree for EVC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3164 SNPs in EVC are shown (see all 3164)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0099444
    Acrofacial dysostosis, Weyers type (WAD)4--see VAR_0099442 S P mis40--------
    VAR_0664484
    Ellis-van Creveld syndrome (EVC)4--see VAR_0664482 L P mis40--------
    VAR_0664474
    Ellis-van Creveld syndrome (EVC)4--see VAR_0664472 S N mis40--------
    rs359536261,2,4
    C,FEllis-van Creveld syndrome (EVC)4 pathogenic15733157(-) TGCCTA/C/G/
            
    GCTGG
    2 Q R mis114NA NS EA WA CSA EU 6353
    rs1219084241,2
    Cpathogenic15788072(+) AGCAGC/TAGCAG 2 Q * stg10--------
    VAR_0099504
    ----see VAR_0099502 D G mis40--------
    rs1396140351,2
    C--5669457(+) AGTCT-/GGCGGGT
    TCACACACCA
    GGCCT
    1 -- int10--------
    rs58558911,2
    C--5684415(-) ACTCT-/AGTCAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1505004091,2
    C--5685626(+) GCCTC-/AGGGAA 1 -- int10--------
    rs1442361671,2
    --5685816(+) ACCCAC/TCCATC 1 -- int10--------

    HapMap Linkage Disequilibrium report for EVC (5712924 - 5830772 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for EVC (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1097941CNV Deletion17803354
    esv2726976CNV Deletion23290073
    esv991561CNV Deletion20482838
    esv2726977CNV Deletion23290073
    esv1296377CNV Insertion17803354
    nsv508993CNV Insertion20534489
    esv21689CNV Loss19812545
    dgv314n21CNV Loss19592680
    nsv517345CNV Loss19592680
    nsv461182CNV Loss19166990


    Human Gene Mutation Database (HGMD): EVC
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EVC
    DNA2.0 Custom Variant and Variant Library Synthesis for EVC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604831   
    OMIM disorders: 225500  193530  
    UniProtKB/Swiss-Prot: EVC_HUMAN, P57679
  • Ellis-van Creveld syndrome (EVC) [MIM:225500]: An autosomal recessive condition characterized by the
    clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest
    short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects,
    most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]: An autosomal dominant condition characterized by
    dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence.
    The phenotype is milder than Ellis-van Creveld syndrome. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/21 diseases for EVC (see all 21):    About MalaCards
    evc-related ellis-van creveld syndrome    weyers acrofacial dysostosis    ellis-van creveld syndrome    facial hemiatrophy
    acute hemorrhagic conjunctivitis    dysostosis    clouston syndrome    sensenbrenner syndrome
    ventricular septal defect    steroid-resistant nephrotic syndrome    atrioventricular septal defect    poliomyelitis
    polydactyly    asphyxiating thoracic dystrophy    short stature    conjunctivitis
    congenital heart defect    nephrotic syndrome    dwarfism    patent ductus arteriosus

    6 diseases from the University of Copenhagen DISEASES database for EVC:
    Ellis-Van Creveld syndrome     Polydactyly     Asphyxiating thoracic dystrophy     Dysostosis
    Congenital heart defect     Sensenbrenner syndrome

    EVC for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for EVC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ellis-van creveld syndrome 98.1 9 17024374 (2), 10700184 (1), 19251731 (1), 17392984 (1) (see all 8)
    polydactyly, postaxial 93.3 2 10700184 (1), 17392984 (1)
    dysostosis 83.5 3 10700184 (3)
    short stature 57.8 1 10700184 (1)
    heart defects congenital 40.7 2 10700184 (1), 17392984 (1)

    Genetic Association Database (GAD): EVC
    Human Genome Epidemiology (HuGE) Navigator: EVC (7 documents)

    Export disorders for EVC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EVC gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with EVC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (PubMed id 10700184)1, 2, 3, 9 Ruiz-Perez V.L....Goodship J. (2000)
    2. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. (PubMed id 18947413)1, 2, 9 Ulucan H....Biesecker L.G. (2008)
    3. Common variations in 4p locus are related to male completed suicide. (PubMed id 19115052)1, 4, 9 Must A....VAoli M. (2009)
    4. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (2012)
    5. A novel missense mutation in the EVC gene underlies E llis-van Creveld syndrome in a Pakistani family. (PubMed id 19744229)1, 2 Umm-E-Kalsoom ....Ahmad W. (2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    8. Association between genes on chromosome 4p16 and non- syndromic oral clefts in four populations. (PubMed id 20087401)1, 4 Ingersoll R.G....Beaty T.H. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. (PubMed id 15492864)1, 9 Sivakumaran T.A. and Lesperance M.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2121 HGNC: 3497 AceView: EVC Ensembl:ENSG00000072840 euGenes: HUgn2121
    ECgene: EVC H-InvDB: EVC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EVC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EVC

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EVC gene:
    Search GeneIP for patents involving EVC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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