Annotations

On this page, we’ll dive into the /v1/annotations endpoint. This endpoint returns annotations for a given gene.

GET/v1/annotations/:geneName

Retrieve a gene annotations

This endpoint allows you to retrieve gene annotations by gene name. The gene name is case-sensitive. Refer to the annotation model for more information on the response.

Path parameters

  • Name
    geneName
    Type
    string
    Description

    The name of the gene to retrieve.

Request

GET
/v1/annotations/:geneName
curl -G https://api.genohub.org/v1/annotations/APOE

Response

{
    "ensembl_gene": "ENSG00000130203",
    "chr": "19",
    "gene_old_names": "AD2",
    "gene_other_names": "",
    "uniprot_acc_hgnc_uniprot": "P02649",
    "uniprot_id_hgnc_uniprot": "APOE_HUMAN",
    "entrez_gene_id_x": "348",
    "ccds_id_x": "CCDS12647",
    "refseq_id": "NM_000041",
    "ucsc_id_x": "uc002pab.4",
    "mim_id": "107741",
    "omim_id_x": "107741",
    "gene_full_name": "apolipoprotein E",
    "pathway_uniprot": "",
    "pathway_bio_carta_short": "",
    "pathway_bio_carta_full": "",
    // ...
}

The annotation model

The annotation model is a nested model that contains more specific information about the gene. The model is as follows:

Properties

  • Name
    ensembl_gene
    Type
    string
    Description

    The Ensembl Gene ID

  • Name
    chr
    Type
    string
    Description

    Chromosome

  • Name
    gene_old_names
    Type
    string
    Description

    Old names of the gene

  • Name
    gene_other_names
    Type
    string
    Description

    Other names of the gene

  • Name
    uniprot_acc_hgnc_uniprot
    Type
    string
    Description

    UniProt Accession linked to HGNC UniProt

  • Name
    uniprot_id_hgnc_uniprot
    Type
    string
    Description

    UniProt ID linked to HGNC UniProt

  • Name
    entrez_gene_id_x
    Type
    string
    Description

    Entrez Gene ID

  • Name
    ccds_id_x
    Type
    string
    Description

    CCDS ID

  • Name
    refseq_id
    Type
    string
    Description

    RefSeq ID

  • Name
    ucsc_id_x
    Type
    string
    Description

    UCSC ID

  • Name
    mim_id
    Type
    string
    Description

    OMIM ID

  • Name
    omim_id_x
    Type
    string
    Description

    OMIM ID

  • Name
    gene_full_name
    Type
    string
    Description

    Full name of the gene

  • Name
    pathway_uniprot
    Type
    string
    Description

    Pathway information from UniProt

  • Name
    pathway_bio_carta_short
    Type
    string
    Description

    Short pathway information from BioCarta

  • Name
    pathway_bio_carta_full
    Type
    string
    Description

    Full pathway information from BioCarta

  • Name
    pathway_consensus_path_db
    Type
    string
    Description

    Pathway information from Consensus PathDB

  • Name
    pathway_kegg_id
    Type
    string
    Description

    KEGG pathway ID

  • Name
    pathway_kegg_full
    Type
    string
    Description

    Full KEGG pathway information

  • Name
    function_description
    Type
    string
    Description

    Functional description of the gene

  • Name
    disease_description
    Type
    string
    Description

    Description of diseases associated with the gene

  • Name
    mim_phenotype_id
    Type
    string
    Description

    Phenotype ID from OMIM

  • Name
    mim_disease
    Type
    string
    Description

    Disease information from OMIM

  • Name
    orphanet_disorder_id
    Type
    string
    Description

    Orphanet disorder ID

  • Name
    orphanet_disorder
    Type
    string
    Description

    Orphanet disorder information

  • Name
    orphanet_association_type
    Type
    string
    Description

    Association type in Orphanet

  • Name
    trait_association_gwas
    Type
    string
    Description

    Trait association information from GWAS

  • Name
    hpo_id
    Type
    string
    Description

    HPO ID

  • Name
    hpo_name
    Type
    string
    Description

    HPO name

  • Name
    go_biological_process
    Type
    string
    Description

    Gene Ontology - Biological Process information

  • Name
    go_cellular_component
    Type
    string
    Description

    Gene Ontology - Cellular Component information

  • Name
    go_molecular_function
    Type
    string
    Description

    Gene Ontology - Molecular Function information

  • Name
    tissue_specificity_uniprot
    Type
    string
    Description

    Tissue specificity information from UniProt

  • Name
    expression_egenetics
    Type
    string
    Description

    Gene expression information from eGenetics

  • Name
    expression_gnf_atlas
    Type
    string
    Description

    Gene expression information from GNF Atlas

  • Name
    interactions_int_act
    Type
    string
    Description

    Interactions information from IntAct

  • Name
    interactions_bio_grid
    Type
    string
    Description

    Interactions information from BioGRID

  • Name
    interactions_consensus_path_db
    Type
    string
    Description

    Interactions information from Consensus PathDB

  • Name
    p_hi
    Type
    string
    Description

    Probability high score

  • Name
    hi_pred_score
    Type
    string
    Description

    High Pred Score

  • Name
    hi_pred
    Type
    string
    Description

    High Pred information

  • Name
    ghis
    Type
    string
    Description

    GHIS (Gene Haploinsufficiency Score)

  • Name
    p_rec
    Type
    string
    Description

    Probability recessive score

  • Name
    known_rec_info
    Type
    string
    Description

    Known recessive information

  • Name
    rvis_evs
    Type
    string
    Description

    RVIS (Residual Variation Intolerance Score) from EVS (Exome Variant Server)

  • Name
    rvis_percentile_evs
    Type
    string
    Description

    RVIS percentile from EVS

  • Name
    lo_f_fdr_ex_ac
    Type
    string
    Description

    LOF FDR (Loss of Function False Discovery Rate) from ExAC (Exome Aggregation Consortium)

  • Name
    rvis_ex_ac
    Type
    string
    Description

    RVIS from ExAC

  • Name
    rvis_percentile_ex_ac
    Type
    string
    Description

    RVIS percentile from ExAC

  • Name
    ex_ac_p_li
    Type
    string
    Description

    ExAC pLI (Probability of being Loss-of-function Intolerant)

  • Name
    ex_ac_p_rec
    Type
    string
    Description

    ExAC pRec (Probability of being Recessive)

  • Name
    ex_ac_p_null
    Type
    string
    Description

    ExAC pNull (Probability of being Null)

  • Name
    ex_ac_non_tcga_p_li
    Type
    string
    Description

    ExAC Non-TCGA pLI

  • Name
    ex_ac_non_tcga_p_rec
    Type
    string
    Description

    ExAC Non-TCGA pRec

  • Name
    ex_ac_non_tcga_p_null
    Type
    string
    Description

    ExAC Non-TCGA pNull

  • Name
    ex_ac_nonpsych_p_li
    Type
    string
    Description

    ExAC Non-Psych pLI

  • Name
    ex_ac_nonpsych_p_rec
    Type
    string
    Description

    ExAC Non-Psych pRec

  • Name
    ex_ac_nonpsych_p_null
    Type
    string
    Description

    ExAC Non-Psych pNull

  • Name
    gnom_ad_p_li
    Type
    string
    Description

    gnomAD pLI

  • Name
    gnom_ad_p_rec
    Type
    string
    Description

    gnomAD pRec

  • Name
    gnom_ad_p_null
    Type
    string
    Description

    gnomAD pNull

  • Name
    ex_ac_del_score
    Type
    string
    Description

    ExAC Deletion Score

  • Name
    ex_ac_dup_score
    Type
    string
    Description

    ExAC Duplication Score

  • Name
    ex_ac_cnv_score
    Type
    string
    Description

    ExAC Copy Number Variation (CNV) Score

  • Name
    ex_ac_cnv_flag
    Type
    string
    Description

    ExAC CNV Flag

  • Name
    gdi
    Type
    string
    Description

    Gene Damage Index (GDI)

  • Name
    gdi_phred
    Type
    string
    Description

    GDI Phred score

  • Name
    gene_damage_prediction_all_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for all disease-causing genes

  • Name
    gene_damage_prediction_all_mendelian_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for all Mendelian disease-causing genes

  • Name
    gene_damage_prediction_mendelian_ad_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for Mendelian autosomal dominant disease-causing genes

  • Name
    gene_damage_prediction_mendelian_ar_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for Mendelian autosomal recessive disease-causing genes

  • Name
    gene_damage_prediction_all_pid_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for all PID (Primary Immunodeficiency) disease-causing genes

  • Name
    gene_damage_prediction_pid_ad_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for PID autosomal dominant disease-causing genes

  • Name
    gene_damage_prediction_pid_ar_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for PID autosomal recessive disease-causing genes

  • Name
    gene_damage_prediction_all_cancer_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for all cancer disease-causing genes

  • Name
    gene_damage_prediction_cancer_recessive_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for cancer recessive disease-causing genes

  • Name
    gene_damage_prediction_cancer_dominant_disease_causing_genes
    Type
    string
    Description

    Gene damage prediction for cancer dominant disease-causing genes

  • Name
    lo_ftool_score
    Type
    string
    Description

    LOFtool Score

  • Name
    sorva_lof_maf0_005_het_or_hom
    Type
    string
    Description

    Sorva LOF MAF (Minor Allele Frequency) 0.005 Het or Hom

  • Name
    sorva_lof_maf0_005_hom_or_compound_het
    Type
    string
    Description

    Sorva LOF MAF 0.005 Hom or Compound Het

  • Name
    sorva_lof_maf0_001_het_or_hom
    Type
    string
    Description

    Sorva LOF MAF 0.001 Het or Hom

  • Name
    sorva_lof_maf0_001_hom_or_compound_het
    Type
    string
    Description

    Sorva LOF MAF 0.001 Hom or Compound Het

  • Name
    sorva_lo_for_missense_maf0_005_het_or_hom
    Type
    string
    Description

    Sorva LOF for Missense MAF 0.005 Het or Hom

  • Name
    sorva_lo_for_missense_maf0_005_hom_or_compound_het
    Type
    string
    Description

    Sorva LOF for Missense MAF 0.005 Hom or Compound Het

  • Name
    sorva_lo_for_missense_maf0_001_het_or_hom
    Type
    string
    Description

    Sorva LOF for Missense MAF 0.001 Het or Hom

  • Name
    sorva_lo_for_missense_maf0_001_hom_or_compound_het
    Type
    string
    Description

    Sorva LOF for Missense MAF 0.001 Hom or Compound Het

  • Name
    essential_gene
    Type
    string
    Description

    Essential gene information

  • Name
    essential_gene_crispr
    Type
    string
    Description

    Essential gene information from CRISPR screens

  • Name
    essential_gene_crispr2
    Type
    string
    Description

    Essential gene information from CRISPR screens (Crispr2)

  • Name
    essential_gene_gene_trap
    Type
    string
    Description

    Essential gene information from gene trapping experiments

  • Name
    gene_indispensability_score
    Type
    string
    Description

    Gene indispensability score

  • Name
    gene_indispensability_pred
    Type
    string
    Description

    Gene indispensability prediction

  • Name
    mgi_mouse_gene
    Type
    string
    Description

    MGI (Mouse Genome Informatics) mouse gene information

  • Name
    mgi_mouse_phenotype
    Type
    string
    Description

    MGI mouse phenotype information

  • Name
    zfin_zebrafish_gene
    Type
    string
    Description

    ZFIN (Zebrafish Information Network) zebrafish gene information

  • Name
    zfin_zebrafish_structure
    Type
    string
    Description

    ZFIN zebrafish structure information

  • Name
    zfin_zebrafish_phenotype_quality
    Type
    string
    Description

    ZFIN zebrafish phenotype quality information

  • Name
    zfin_zebrafish_phenotype_tag
    Type
    string
    Description

    ZFIN zebrafish phenotype tag information

  • Name
    hgnc_id_x
    Type
    string
    Description

    HGNC ID

  • Name
    symbol
    Type
    string
    Description

    Gene symbol

  • Name
    name
    Type
    string
    Description

    Gene name

  • Name
    locus_group
    Type
    string
    Description

    Locus group

  • Name
    locus_type
    Type
    string
    Description

    Locus type

  • Name
    status
    Type
    string
    Description

    Gene status

  • Name
    location
    Type
    string
    Description
    Location
  • Name
    location_sortable
    Type
    string
    Description
    LocationSortable
  • Name
    alias_symbol
    Type
    string
    Description
    AliasSymbol
  • Name
    alias_name
    Type
    string
    Description
    AliasName
  • Name
    prev_symbol
    Type
    string
    Description
    PrevSymbol
  • Name
    prev_name
    Type
    string
    Description
    PrevName
  • Name
    gene_family
    Type
    string
    Description
    GeneFamily
  • Name
    gene_family_id
    Type
    string
    Description
    GeneFamilyID
  • Name
    date_approved_reserved
    Type
    string
    Description
    DateApprovedReserved
  • Name
    date_symbol_changed
    Type
    string
    Description
    DateSymbolChanged
  • Name
    date_name_changed
    Type
    string
    Description
    DateNameChanged
  • Name
    date_modified
    Type
    string
    Description
    DateModified
  • Name
    entrez_id
    Type
    null.Int
    Description
    EntrezID
  • Name
    vega_id
    Type
    string
    Description
    VegaID
  • Name
    ucsc_id_y
    Type
    string
    Description
    UcscIDY
  • Name
    ena
    Type
    string
    Description
    Ena
  • Name
    refseq_accession
    Type
    string
    Description
    RefseqAccession
  • Name
    ccds_id_y
    Type
    string
    Description
    CcdsIDY
  • Name
    uniprot_ids
    Type
    string
    Description
    UniprotIDs
  • Name
    pubmed_id
    Type
    string
    Description
    PubmedID
  • Name
    mgd_id
    Type
    string
    Description
    MgdID
  • Name
    rgd_id
    Type
    string
    Description
    RgdID
  • Name
    lsdb
    Type
    string
    Description
    Lsdb
  • Name
    cosmic
    Type
    string
    Description
    Cosmic
  • Name
    omim_id_y
    Type
    string
    Description
    OmimIDY
  • Name
    mirbase
    Type
    string
    Description
    Mirbase
  • Name
    homeodb
    Type
    null.Int
    Description
    Homeodb
  • Name
    snornabase
    Type
    string
    Description
    Snornabase
  • Name
    bioparadigms_slc
    Type
    string
    Description
    BioparadigmsSlc
  • Name
    orphanet
    Type
    null.Int
    Description
    Orphanet
  • Name
    pseudogene_org
    Type
    string
    Description
    PseudogeneOrg
  • Name
    horde_id
    Type
    string
    Description
    HordeID
  • Name
    merops
    Type
    string
    Description
    Merops
  • Name
    imgt
    Type
    string
    Description
    Imgt
  • Name
    iuphar
    Type
    string
    Description
    Iuphar
  • Name
    kznf_gene_catalog
    Type
    null.Int
    Description
    KznfGeneCatalog
  • Name
    mamit_trnadb
    Type
    string
    Description
    MamitTrnadb
  • Name
    cd
    Type
    string
    Description
    Cd
  • Name
    lncrnadb
    Type
    string
    Description
    Lncrnadb
  • Name
    enzyme_id
    Type
    string
    Description
    EnzymeID
  • Name
    intermediate_filament_db
    Type
    string
    Description
    IntermediateFilamentDB
  • Name
    rna_central_ids
    Type
    string
    Description
    RnaCentralIDs
  • Name
    lncipedia
    Type
    string
    Description
    Lncipedia
  • Name
    gtrnadb
    Type
    string
    Description
    Gtrnadb
  • Name
    agr
    Type
    string
    Description
    Agr
  • Name
    number_chromosome
    Type
    string
    Description
    NumberChromosome
  • Name
    genomic_position_start
    Type
    null.Int
    Description
    GenomicPositionStart
  • Name
    genomic_position_end
    Type
    null.Int
    Description
    GenomicPositionEnd
  • Name
    cyto_location
    Type
    string
    Description
    CytoLocation
  • Name
    computed_cyto_location
    Type
    string
    Description
    ComputedCytoLocation
  • Name
    mim_number
    Type
    null.Int
    Description
    MimNumber
  • Name
    gene_symbol2
    Type
    string
    Description
    GeneSymbol2
  • Name
    approved_symbol
    Type
    string
    Description
    ApprovedSymbol
  • Name
    entrez_gene_id_y
    Type
    null.Int
    Description
    EntrezGeneIDY
  • Name
    comments
    Type
    string
    Description
    Comments
  • Name
    phenotypes_x
    Type
    string
    Description
    PhenotypesX
  • Name
    mouse_gene_symbol_id
    Type
    string
    Description
    MouseGeneSymbolID
  • Name
    pheno
    Type
    string
    Description
    Pheno
  • Name
    pheno_mimid
    Type
    string
    Description
    PhenoMimid
  • Name
    pheno_key
    Type
    string
    Description
    PhenoKey
  • Name
    inheritance
    Type
    string
    Description
    Inheritance
  • Name
    pheno_disease
    Type
    string
    Description
    PhenoDisease
  • Name
    s_het
    Type
    null.Float
    Description
    SHet
  • Name
    s_het_lower95
    Type
    null.Float
    Description
    SHetLower95
  • Name
    s_het_upper95
    Type
    null.Float
    Description
    SHetUpper95
  • Name
    nfe_s_het
    Type
    null.Float
    Description
    NfeSHet
  • Name
    nfe_s_het_lower95
    Type
    null.Float
    Description
    NfeSHetLower95
  • Name
    nfe_s_het_upper95
    Type
    null.Float
    Description
    NfeSHetUpper95
  • Name
    rank
    Type
    null.Int
    Description
    Rank
  • Name
    quintile
    Type
    null.Int
    Description
    Quintile
  • Name
    decile
    Type
    null.Int
    Description
    Decile
  • Name
    u
    Type
    null.Float
    Description
    U
  • Name
    n
    Type
    null.Float
    Description
    N
  • Name
    nfe_n
    Type
    null.Float
    Description
    NfeN
  • Name
    n_2
    Type
    null.Int
    Description
    N2
  • Name
    nfe_n_2
    Type
    null.Int
    Description
    NfeN2
  • Name
    gene_mim
    Type
    string
    Description
    GeneMim
  • Name
    disease_name
    Type
    string
    Description
    DiseaseName
  • Name
    disease_mim
    Type
    string
    Description
    DiseaseMim
  • Name
    ddd_category
    Type
    string
    Description
    DddCategory
  • Name
    allelic_requirement
    Type
    string
    Description
    AllelicRequirement
  • Name
    mutation_consequence
    Type
    string
    Description
    MutationConsequence
  • Name
    phenotypes_y
    Type
    string
    Description
    PhenotypesY
  • Name
    organ_specificity_list
    Type
    string
    Description
    OrganSpecificityList
  • Name
    pmids
    Type
    string
    Description
    Pmids
  • Name
    panel
    Type
    string
    Description
    Panel
  • Name
    prev_symbols
    Type
    string
    Description
    PrevSymbols
  • Name
    gene
    Type
    string
    Description

    Gene

  • Name
    gene_synonym
    Type
    string
    Description

    GeneSynonym

  • Name
    gene_description
    Type
    string
    Description

    GeneDescription

  • Name
    uniprot
    Type
    string
    Description

    Uniprot

  • Name
    chromosome
    Type
    string
    Description

    Chromosome

  • Name
    position
    Type
    string
    Description

    Position

  • Name
    protein_class
    Type
    string
    Description

    ProteinClass

  • Name
    evidence
    Type
    string
    Description

    Evidence

  • Name
    hpa_evidence
    Type
    string
    Description

    HpaEvidence

  • Name
    uni_prot_evidence
    Type
    string
    Description

    UniProtEvidence

  • Name
    ne_xt_prot_evidence
    Type
    string
    Description

    NeXtProtEvidence

  • Name
    ms_evidence
    Type
    string
    Description

    MsEvidence

  • Name
    rna_tissue_specificity
    Type
    string
    Description

    RnaTissueSpecificity

  • Name
    rna_tissue_distribution
    Type
    string
    Description

    RnaTissueDistribution

  • Name
    rna_tissue_specificity_score
    Type
    null.Int
    Description

    RnaTissueSpecificityScore

  • Name
    rna_cell_line_specificity
    Type
    string
    Description

    RnaCellLineSpecificity

  • Name
    rna_cell_line_distribution
    Type
    string
    Description

    RnaCellLineDistribution

  • Name
    rna_cell_line_specificity_score
    Type
    null.Int
    Description

    RnaCellLineSpecificityScore

  • Name
    rna_cancer_specificity
    Type
    string
    Description

    RnaCancerSpecificity

  • Name
    rna_cancer_distribution
    Type
    string
    Description

    RnaCancerDistribution

  • Name
    rna_cancer_specificity_score
    Type
    null.Int
    Description

    RnaCancerSpecificityScore

  • Name
    rna_cancer_specific_fpkm
    Type
    string
    Description

    RnaCancerSpecificFpkm

  • Name
    rna_brain_regional_specificity
    Type
    string
    Description

    RnaBrainRegionalSpecificity

  • Name
    rna_brain_regional_distribution
    Type
    string
    Description

    RnaBrainRegionalDistribution

  • Name
    rna_brain_regional_specificity_score
    Type
    null.Int
    Description

    RnaBrainRegionalSpecificityScore

  • Name
    rna_blood_cell_specificity
    Type
    string
    Description

    RnaBloodCellSpecificity

  • Name
    rna_blood_cell_distribution
    Type
    string
    Description

    RnaBloodCellDistribution

  • Name
    rna_blood_cell_specificity_score
    Type
    null.Int
    Description

    RnaBloodCellSpecificityScore

  • Name
    rna_blood_lineage_specificity
    Type
    string
    Description

    RnaBloodLineageSpecificity

  • Name
    rna_blood_lineage_distribution
    Type
    string
    Description

    RnaBloodLineageDistribution

  • Name
    rna_blood_lineage_specificity_score
    Type
    null.Int
    Description

    RnaBloodLineageSpecificityScore

  • Name
    rna_mouse_brain_regional_specificity
    Type
    string
    Description

    RnaMouseBrainRegionalSpecificity

  • Name
    rna_mouse_brain_regional_distribution
    Type
    string
    Description

    RnaMouseBrainRegionalDistribution

  • Name
    rna_mouse_brain_regional_specificity_score
    Type
    null.Int
    Description

    RnaMouseBrainRegionalSpecificityScore

  • Name
    rna_mouse_brain_regional_specific_p_tpm
    Type
    string
    Description

    RnaMouseBrainRegionalSpecificPTpm

  • Name
    rna_pig_brain_regional_specificity
    Type
    string
    Description

    RnaPigBrainRegionalSpecificity

  • Name
    rna_pig_brain_regional_distribution
    Type
    string
    Description

    RnaPigBrainRegionalDistribution

  • Name
    rna_pig_brain_regional_specificity_score
    Type
    null.Int
    Description

    RnaPigBrainRegionalSpecificityScore

  • Name
    rna_pig_brain_regional_specific_p_tpm
    Type
    string
    Description

    RnaPigBrainRegionalSpecificPTpm

  • Name
    antibody
    Type
    string
    Description

    Antibody

  • Name
    reliability_ih
    Type
    string
    Description

    ReliabilityIh

  • Name
    reliability_mouse_brain
    Type
    string
    Description

    ReliabilityMouseBrain

  • Name
    reliability_if
    Type
    string
    Description

    ReliabilityIf

  • Name
    subcellular_location
    Type
    string
    Description

    SubcellularLocation

  • Name
    secretome_location
    Type
    string
    Description

    SecretomeLocation

  • Name
    blood_concentration_conc_blood_im_pg_l
    Type
    string
    Description

    BloodConcentrationConcBloodImPGl

  • Name
    blood_concentration_conc_blood_ms_pg_l
    Type
    string
    Description

    BloodConcentrationConcBloodMsPGl

  • Name
    subcellular_main_location
    Type
    string
    Description

    SubcellularMainLocation

  • Name
    subcellular_additional_location
    Type
    string
    Description

    SubcellularAdditionalLocation

  • Name
    antibody_rrid
    Type
    string
    Description

    AntibodyRrid

  • Name
    mu
    Type
    null.Float
    Description

    Mu

  • Name
    ac
    Type
    null.Int
    Description

    Ac

  • Name
    an_int
    Type
    null.Float
    Description

    AnInt

  • Name
    mean_s_het
    Type
    null.Float
    Description

    MeanSHet

  • Name
    ptriplo
    Type
    null.Float
    Description

    PTriplo

  • Name
    phaplo
    Type
    null.Float
    Description

    PHaplo

  • Name
    gene_mim_v2_kegg
    Type
    null.Int
    Description

    GeneMimV2Kegg

  • Name
    disease_name_v2_kegg
    Type
    string
    Description

    DiseaseNameV2Kegg

  • Name
    disease_mim_v2_kegg
    Type
    null.Int
    Description

    DiseaseMimV2Kegg

  • Name
    confidence_category_v2_kegg
    Type
    string
    Description

    ConfidenceCategoryV2Kegg

  • Name
    allelic_requirement_v2_kegg
    Type
    string
    Description

    AllelicRequirementV2Kegg

  • Name
    mutation_consequence_v2_kegg
    Type
    string
    Description

    MutationConsequenceV2Kegg

  • Name
    phenotypes_v2_kegg
    Type
    string
    Description

    PhenotypesV2Kegg

  • Name
    organ_specificity_list_v2_kegg
    Type
    string
    Description

    OrganSpecificityListV2Kegg

  • Name
    pmids_v2_kegg
    Type
    string
    Description

    PmidsV2Kegg

  • Name
    panel_v2_kegg
    Type
    string
    Description

    PanelV2Kegg

  • Name
    prev_symbols_v2_kegg
    Type
    string
    Description

    PrevSymbolsV2Kegg

  • Name
    kegg_hgnc_id_v2_kegg
    Type
    null.Int
    Description

    KeggHgncIDV2Kegg

  • Name
    gene_disease_pair_entry_date_v2_kegg
    Type
    string
    Description

    GeneDiseasePairEntryDateV2Kegg

  • Name
    cross_cutting_modifier_v2_kegg
    Type
    string
    Description

    CrossCuttingModifierV2Kegg

  • Name
    mutation_consequence_flag_v2_kegg
    Type
    string
    Description

    MutationConsequenceFlagV2Kegg

  • Name
    confidence_value_flag_v2_kegg
    Type
    string
    Description

    ConfidenceValueFlagV2Kegg

  • Name
    comments_v2_kegg
    Type
    string
    Description

    CommentsV2Kegg

  • Name
    variant_consequence_v2_kegg
    Type
    string
    Description

    VariantConsequenceV2Kegg

  • Name
    disease_ontology_v2_kegg
    Type
    string
    Description

    DiseaseOntologyV2Kegg

  • Name
    adipose_subcutaneous
    Type
    null.Float
    Description

    AdiposeSubcutaneous

  • Name
    adipose_visceral_omentum
    Type
    null.Float
    Description

    AdiposeVisceralOmentum

  • Name
    adrenal_gland
    Type
    null.Float
    Description

    AdrenalGland

  • Name
    artery_aorta
    Type
    null.Float
    Description

    ArteryAorta

  • Name
    artery_coronary
    Type
    null.Float
    Description

    ArteryCoronary

  • Name
    artery_tibial
    Type
    null.Float
    Description

    ArteryTibial

  • Name
    bladder
    Type
    null.Float
    Description

    Bladder

  • Name
    brain_amygdala
    Type
    null.Float
    Description

    BrainAmygdala

  • Name
    brain_anterior_cingulate_cortex_ba24
    Type
    null.Float
    Description

    BrainAnteriorCingulateCortexBa24

  • Name
    brain_caudate_basal_ganglia
    Type
    null.Float
    Description

    BrainCaudateBasalGanglia

  • Name
    brain_cerebellar_hemisphere
    Type
    null.Float
    Description

    BrainCerebellarHemisphere

  • Name
    brain_cerebellum
    Type
    null.Float
    Description

    BrainCerebellum

  • Name
    brain_cortex
    Type
    null.Float
    Description

    BrainCortex

  • Name
    brain_frontal_cortex_ba9
    Type
    null.Float
    Description

    BrainFrontalCortexBa9

  • Name
    brain_hippocampus
    Type
    null.Float
    Description

    BrainHippocampus

  • Name
    brain_hypothalamus
    Type
    null.Float
    Description

    BrainHypothalamus

  • Name
    brain_nucleus_accumbens_basal_ganglia
    Type
    null.Float
    Description

    BrainNucleusAccumbensBasalGanglia

  • Name
    brain_putamen_basal_ganglia
    Type
    null.Float
    Description

    BrainPutamenBasalGanglia

  • Name
    brain_spinal_cord_cervical_c_1
    Type
    null.Float
    Description

    BrainSpinalCordCervicalC1

  • Name
    brain_substantia_nigra
    Type
    null.Float
    Description

    BrainSubstantiaNigra

  • Name
    breast_mammary_tissue
    Type
    null.Float
    Description

    BreastMammaryTissue

  • Name
    cells_cultured_fibroblasts
    Type
    null.Float
    Description

    CellsCulturedFibroblasts

  • Name
    cells_ebv_transformed_lymphocytes
    Type
    null.Float
    Description

    CellsEbvTransformedLymphocytes

  • Name
    cervix_ectocervix
    Type
    null.Float
    Description

    CervixEctocervix

  • Name
    cervix_endocervix
    Type
    null.Float
    Description

    CervixEndocervix

  • Name
    colon_sigmoid
    Type
    null.Float
    Description

    ColonSigmoid

  • Name
    colon_transverse
    Type
    null.Float
    Description

    ColonTransverse

  • Name
    esophagus_gastroesophageal_junction
    Type
    null.Float
    Description

    EsophagusGastroesophagealJunction

  • Name
    esophagus_mucosa
    Type
    null.Float
    Description

    EsophagusMucosa

  • Name
    esophagus_muscularis
    Type
    null.Float
    Description

    EsophagusMuscularis

  • Name
    fallopian_tube
    Type
    null.Float
    Description

    FallopianTube

  • Name
    heart_atrial_appendage
    Type
    null.Float
    Description

    HeartAtrialAppendage

  • Name
    heart_left_ventricle
    Type
    null.Float
    Description

    HeartLeftVentricle

  • Name
    kidney_cortex
    Type
    null.Float
    Description

    KidneyCortex

  • Name
    kidney_medulla
    Type
    null.Float
    Description

    KidneyMedulla

  • Name
    liver
    Type
    null.Float
    Description

    Liver

  • Name
    lung
    Type
    null.Float
    Description

    Lung

  • Name
    minor_salivary_gland
    Type
    null.Float
    Description

    MinorSalivaryGland

  • Name
    muscle_skeletal
    Type
    null.Float
    Description

    MuscleSkeletal

  • Name
    nerve_tibial
    Type
    null.Float
    Description

    NerveTibial

  • Name
    ovary
    Type
    null.Float
    Description

    Ovary

  • Name
    pancreas
    Type
    null.Float
    Description

    Pancreas

  • Name
    pituitary
    Type
    null.Float
    Description

    Pituitary

  • Name
    prostate
    Type
    null.Float
    Description

    Prostate

  • Name
    skin_not_sun_exposed_suprapubic
    Type
    null.Float
    Description

    SkinNotSunExposedSuprapubic

  • Name
    skin_sun_exposed_lower_leg
    Type
    null.Float
    Description

    SkinSunExposedLowerLeg

  • Name
    small_intestine_terminal_ileum
    Type
    null.Float
    Description

    SmallIntestineTerminalIleum

  • Name
    spleen
    Type
    null.Float
    Description

    Spleen

  • Name
    stomach
    Type
    null.Float
    Description

    Stomach

  • Name
    testis
    Type
    null.Float
    Description

    Testis

  • Name
    thyroid
    Type
    null.Float
    Description

    Thyroid

  • Name
    uterus
    Type
    null.Float
    Description

    Uterus

  • Name
    vagina
    Type
    null.Float
    Description

    Vagina

  • Name
    whole_blood
    Type
    null.Float
    Description

    WholeBlood