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5.65821; 5.53337; 1.58809; 5.29021; 7.82660; 6.95277; 6.86990; 3.96842; 1.51792"},"gdp":{"description":"gene damage prediction (low/medium/high) by GDI for all diseases","do_import":true,"enum":["Medium","High","Low"],"field_name":"gdp","schema_title":"Gene damage prediction (all disease-causing genes)","source_name":"dbNSFP","source_version":"4.0c","title":"Gene damage prediction (all disease-causing genes)","type":"string","value_example":"Medium; High; Low"},"gene_biotype":{"description":"The biotype of this gene","do_import":true,"enum":["protein_coding","IG_C_gene","IG_C_pseudogene","IG_D_gene","IG_J_gene","IG_J_pseudogene","IG_pseudogene","IG_V_gene","IG_V_pseudogene","lncRNA","miRNA","misc_RNA","Mt_rRNA","Mt_tRNA","polymorphic_pseudogene","processed_pseudogene","pseudogene","ribozyme","rRNA","rRNA_pseudogene","scaRNA","scRNA","snoRNA","snRNA","sRNA","TEC","transcribed_processed_pseudogene","transcribed_unitary_pseudogene","transcribed_unprocessed_pseudogene","translated_processed_pseudogene","translated_unprocessed_pseudogene","TR_C_gene","TR_D_gene","TR_J_gene","TR_J_pseudogene","TR_V_gene","TR_V_pseudogene","unitary_pseudogene","unprocessed_pseudogene","vaultRNA"],"field_name":"gene_biotype","schema_title":"Gene biotype","source_name":"ENSEMBLgene","source_version":"v99","title":"Gene biotype","type":"string","value_example":"transcribed_unprocessed_pseudogene; unprocessed_pseudogene; miRNA; lncRNA; protein_coding; processed_pseudogene; snRNA; transcribed_processed_pseudogene; misc_RNA; TEC"},"gene_summary":{"comments":"Default=CGAP KB; RefSeq if not available","description":"Gene summary from RefSeq","do_import":true,"field_name":"gene_summary","schema_title":"Gene summary","source_name":"RefSeq","source_version":"2020-03-20","title":"Gene summary","type":"string","value_example":"The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010].; The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012].; This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008].; This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011].; DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008].; The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. COMPLETENESS: complete on the 3' end.; This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014].; The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017].; This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]."},"gene_symbol":{"comments":"Present NCBI or HUGO Name as the default","description":"The official symbol of this gene","do_import":true,"field_name":"gene_symbol","schema_title":"Gene symbol","source_name":"ENSEMBLgene","source_version":"v99","title":"Gene symbol","type":"string","value_example":"DDX11L1; WASH7P; MIR6859-1; MIR1302-2HG; MIR1302-2; FAM138A; OR4G4P; OR4G11P; OR4F5; AL627309.1"},"gene_version":{"description":"The stable identifier version for the gene","do_import":true,"field_name":"gene_version","schema_title":"ENSEMBL gene version","source_name":"ENSEMBLgene","source_version":"v99","title":"ENSEMBL gene version","type":"string","value_example":"5; 1; 2; 3; 6; 7; 4; 10; 12; 11"},"genecards":{"annotation_category":"dbxref","comments":"link","description":"a database of human genes that provides genomic, proteomic, transcriptomic, genetic and functional information on all known and predicted human genes.","do_import":true,"field_name":"genecards","link":"https://www.genecards.org/cgi-bin/carddisp.pl?gene=<ID>","schema_title":"GeneCards","source_name":"ENSEMBLIDxref","source_version":"v2.1.1","title":"GeneCards","type":"string","value_example":"ENSG00000223972; ENSG00000227232; ENSG00000278267; ENSG00000243485; ENSG00000284332; ENSG00000237613; ENSG00000268020; ENSG00000240361; ENSG00000186092; ENSG00000238009"},"genereviews":{"field_name":"genereviews","items":{"annotation_category":"dbxref","description":"GeneReviews","do_import":true,"field_name":"genereviews","link":"https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=<ID>%5BGeneSymbol%5D","schema_title":"GeneReviews","source_name":"ENSEMBLIDxref","source_version":"v2.1.1","title":"GeneReviews","type":"string","value_example":"ISCU; CPT2; GABRB3; SKIV2L; MMADHC; WRN; NPHP3; KIF1A; PEX13; CLCN5"},"title":"GeneReviews","type":"array"},"gnomad":{"description":"gnomAD gene","do_import":true,"field_name":"gnomad","link":"https://gnomad.broadinstitute.org/gene/<ID>","schema_title":"gnomAD","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"gnomAD","type":"string","value_example":"ENSG00000186092; ENSG00000187634; ENSG00000188976; ENSG00000187961; ENSG00000187583; ENSG00000187642; ENSG00000188290; ENSG00000187608; ENSG00000188157; ENSG00000237330"},"gtex_expression":{"do_import":true,"field_name":"gtex_expression","link":"https://gtexportal.org/home/gene/<ID>","schema_title":"GTEx","source_name":"GTEx","source_version":"v8","title":"GTEx","type":"string","value_example":"ENSG00000070669.12"},"hgnc_id":{"annotation_category":"dbxref","description":"A unique ID provided by the HGNC for each gene with an approved symbol.","do_import":true,"field_name":"hgnc_id","link":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:<ID>","schema_title":"HGNC ID","source_name":"HGNC","source_version":"2020-02-24","title":"HGNC ID","type":"string","value_example":"37102; 38034; 50039; 52482; 35294; 32334; 14822; 31276; 14825; 48835"},"marrvel":{"description":"Integrated information from six human genetic databases and seven model organism databases","do_import":true,"field_name":"marrvel","link":"http://www.marrvel.org/search/gene/<ID>","schema_title":"Marrvel","source_name":"Marrvel","source_version":"v1.2","title":"Marrvel","type":"string","value_example":"DDX11L1;WASH7P;FAM138A;OR4G4P;OR4G11P;OR4F5;CICP27;WASH9P;WBP1LP7;OR4F29;CICP7;WBP1LP6;OR4F16;CICP3;FAM87B;FAM41C;TUBB8P11;SAMD11;NOC2L;KLHL17"},"mgd_id":{"field_name":"mgd_id","items":{"annotation_category":"dbxref","comments":"We need to look at one mouse db at least","description":"Mouse Genome Informatics Database","do_import":true,"field_name":"mgd_id","link":"http://www.informatics.jax.org/marker/<ID>","pattern":"^MGI:[0-9]+","schema_title":"MGI","source_name":"HGNC","source_version":"2020-02-24","title":"MGI","type":"string","value_example":"MGI:3031137; MGI:2446220; MGI:1931051; MGI:2678948; MGI:2387630; MGI:1921433; MGI:1855694; MGI:87961; MGI:3588193; MGI:2444364"},"title":"MGI","type":"array"},"mgi_mouse_gene":{"description":"Homolog mouse gene name from MGI","do_import":true,"field_name":"mgi_mouse_gene","schema_title":"Mouse gene (MGI)","source_name":"dbNSFP","source_version":"4.0c","title":"Mouse gene (MGI)","type":"string","value_example":"Olfr1303; Samd11; Noc2l; Klhl17; Plekhn1; Perm1; Isg15; Agrn; Rnf223; 9430015G10Rik"},"mgi_mouse_phenotype":{"description":"Phenotype description for the homolog mouse gene from MGI","do_import":true,"field_name":"mgi_mouse_phenotype","schema_title":"Mouse phenotype (MGI)","source_name":"dbNSFP","source_version":"4.0c","title":"Mouse phenotype (MGI)","type":"string","value_example":"endocrine/exocrine gland phenotype; cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype; skeleton phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; renal/urinary system phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; digestive/alimentary phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; respiratory system phenotype; liver/biliary system phenotype; growth/size/body region phenotype; taste/olfaction phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)"},"name":{"comments":"Default","description":"The full gene name approved by the HGNC.","do_import":true,"field_name":"name","schema_title":"Gene full name","source_name":"HGNC","source_version":"2020-02-24","title":"Gene full name","type":"string","value_example":"DEAD/H-box helicase 11 like 1; WASP family homolog 7, pseudogene; microRNA 6859-1; MIR1302-2 host gene; microRNA 1302-2; family with sequence similarity 138 member A; olfactory receptor family 4 subfamily G member 4 pseudogene; olfactory receptor family 4 subfamily G member 11 pseudogene; olfactory receptor family 4 subfamily F member 5; capicua transcriptional repressor pseudogene 27"},"num_coding_exons":{"do_import":true,"field_name":"num_coding_exons","schema_title":"Number of coding exons","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"Number of coding exons","type":"integer","value_example":"1; 13; 19; 12; 16; 5; 3; 2; 36; 8"},"obs_lof":{"do_import":true,"field_name":"obs_lof","schema_title":"Observed LoF","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"Observed LoF","type":"integer","value_example":"2; 22; 43; 26; 25; 21; 6; 0; 29; 7"},"obs_mis":{"do_import":true,"field_name":"obs_mis","schema_title":"Observed missense","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"Observed missense","type":"integer","value_example":"67; 546; 577; 467; 480; 422; 103; 117; 1303; 124"},"obs_syn":{"do_import":true,"field_name":"obs_syn","schema_title":"Observed synonymous","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"Observed synonymous","type":"integer","value_example":"28; 270; 320; 360; 216; 215; 53; 63; 727; 58"},"oe_lof":{"annotation_category":"gene metrics","do_import":true,"field_name":"oe_lof","schema_title":"o/e (LoF)","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"o/e (LoF)","type":"number","value_example":"8.5584e-01; 8.9656e-01; 1.0291e+00; 9.0749e-01; 8.0467e-01; 1.1826e+00; 1.6997e+00; 0.0000e+00; 3.1914e-01; 9.5227e-01"},"oe_mis":{"annotation_category":"gene metrics","do_import":true,"field_name":"oe_mis","schema_title":"o/e (missense)","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"o/e (missense)","type":"number","value_example":"8.1001e-01; 1.5082e+00; 1.2489e+00; 1.0772e+00; 1.2593e+00; 1.0790e+00; 1.1390e+00; 1.0115e+00; 9.8257e-01; 1.1504e+00"},"oe_syn":{"annotation_category":"gene metrics","do_import":true,"field_name":"oe_syn","schema_title":"o/e (synonymous)","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"o/e (synonymous)","type":"number","value_example":"9.1766e-01; 1.6983e+00; 1.6049e+00; 1.7903e+00; 1.2377e+00; 1.2299e+00; 1.2689e+00; 1.0834e+00; 1.2049e+00; 1.1454e+00"},"omim_id":{"field_name":"omim_id","items":{"annotation_category":"dbxref","description":"Online Mendelian Inheritance in Man (OMIM)","do_import":true,"field_name":"omim_id","link":"https://omim.org/entry/<ID>","pattern":"^[0-9]+$","schema_title":"OMIM","source_name":"HGNC","source_version":"2020-02-24","title":"OMIM","type":"string","value_example":"616765; 610770; 615921; 608060; 147571; 103320; 612091; 612090; 612094; 603905"},"title":"OMIM","type":"array"},"orphanet":{"annotation_category":"dbxref","description":"portal for rare diseases and orphan drugs","do_import":true,"field_name":"orphanet","link":"https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=<ID>","pattern":"^[0-9]+$","schema_title":"OrphaNet","source_name":"HGNC","source_version":"2020-02-24","title":"OrphaNet","type":"string","value_example":"315470; 233062; 434205; 356939; 426034; 469968; 412653; 470030; 121991; 311140"},"pathway_kegg_full":{"annotation_category":"dbxref","description":"Full name(s) of the Pathway(s) the gene belongs to (from KEGG)","do_import":true,"field_name":"pathway_kegg_full","schema_title":"KEGG pathway","source_name":"dbNSFP","source_version":"4.0c","title":"KEGG pathway","type":"string","value_example":"Olfactory transduction; ECM-receptor interaction; Cytokine-cytokine receptor interaction; Chondroitin sulfate biosynthesis;Glycan structures - biosynthesis 1; Ubiquitin mediated proteolysis;Parkinson's disease; Taste transduction; Wnt signaling pathway;Notch signaling pathway;Melanogenesis;Colorectal cancer;Basal cell carcinoma; Nicotinate and nicotinamide metabolism; Calcium signaling pathway;Phosphatidylinositol signaling system;Long-term potentiation;Olfactory transduction;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Huntington's disease;Glioma; Neuroactive ligand-receptor interaction"},"pathway_kegg_id":{"annotation_category":"dbxref","description":"ID(s) of the Pathway(s) the gene belongs to (from KEGG)","do_import":true,"field_name":"pathway_kegg_id","link":"https://www.genome.jp/dbget-bin/www_bget?<ID>","schema_title":"KEGG","source_name":"dbNSFP","source_version":"4.0c","title":"KEGG","type":"string","value_example":"hsa04740; hsa04512; hsa04060; hsa00532;hsa01030; hsa04120;hsa05020; hsa04742; hsa04310;hsa04330;hsa04916;hsa05210;hsa05217; hsa00760; hsa04020;hsa04070;hsa04720;hsa04740;hsa04910;hsa04912;hsa04916;hsa05040;hsa05214; hsa04080"},"pdb":{"field_name":"pdb","items":{"annotation_category":"dbxref","description":"The Protein Data Bank (PDB) [1] is a database for the three-dimensional structural data of large biological molecules, such as proteins and nucleic acids.","do_import":true,"field_name":"pdb","link":"https://www.rcsb.org/structure/<ID>","schema_title":"PDB","source_name":"ENSEMBLIDxref","source_version":"v2.1.1","title":"PDB","type":"string","value_example":"6HRL; 5KZ5|5WKP|5WLW|6NZU|1Z2M|2HJ8|3PHX|3PSE|3R66|3RT3|3SDL|5TL6|5W8T|5W8U|6BI8|6FFA; 2X9E|2ZMC|2ZMD|3CEK|3DBQ|3GFW|3H9F|3HMN|3HMO|3HMP|3VQU|3W1F|3WYX|3WYY|3WZJ|3WZK|4B94|4BHZ|4BI0|4BI1|4BI2|4C4E|4C4F|4C4G|4C4H|4C4I|4C4J|4CV8|4CV9|4CVA|4D2S|4H7X|4H7Y|4JS8|4JT3|4O6L|4ZEG|5AP0|5AP1|5AP2|5AP3|5AP4|5AP5|5AP6|5AP7|5EH0|5EHL|5EHO|5EHY|5EI2|5EI6|5EI8|5LJJ|5MRB|5N7V|5N84|5N87|5N93|5N9S|5NA0|5NAD|5NTT|5O91|6B4W|6GVJ|6H3K|6N6O; 1OQD|1XU2|2KN1|4ZFO|6J7W; 1RF3|4MXW|1D0A|2HEV|2HEY|6OGX|6OKM|6OKN; 1UPK|1UPL|2WTK|3GNI|4FZA|4FZD|4FZF|4NZW|4O27; 2F4W; 6BQN; 6IF3; 5KKP"},"title":"PDB","type":"array"},"pharmgkb":{"field_name":"pharmgkb","items":{"annotation_category":"dbxref","comments":"PGx- manul MVP","description":"a publicly available, online knowledgebase responsible for the aggregation, curation, integration and dissemination of knowledge regarding the impact of human genetic variation on drug response.","do_import":true,"field_name":"pharmgkb","link":"https://www.pharmgkb.org/gene/<ID>","schema_title":"PharmGKB","source_name":"ENSEMBLIDxref","source_version":"v2.1.1","title":"PharmGKB","type":"string","value_example":"PA32290; PA32278; PA25678; PA134934728; PA162399738; PA30439; PA142671692; PA162392328; PA134982718; PA164725453"},"title":"PharmGKB","type":"array"},"refseq_accession":{"field_name":"refseq_accession","items":{"annotation_category":"dbxref","description":"The Reference Sequence (RefSeq) collection","do_import":true,"field_name":"refseq_accession","link":"https://www.ncbi.nlm.nih.gov/gene/?term=<ID>","pattern":"^(A|N|W|X|Y)(C|G|M|P|R|T|W)_[0-9]+","schema_title":"RefSeq","source_name":"HGNC","source_version":"2020-02-24","title":"RefSeq","type":"string","value_example":"NR_046018; 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It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010].; The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012].; This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008].; This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011].; DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008].; The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. COMPLETENESS: complete on the 3' end.; This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014].; The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017].; This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. 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integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; digestive/alimentary phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; respiratory system phenotype; liver/biliary system phenotype; growth/size/body region phenotype; taste/olfaction phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)"},"name":{"comments":"Default","description":"The full gene name approved by the HGNC.","do_import":true,"field_name":"name","schema_title":"Gene full name","source_name":"HGNC","source_version":"2020-02-24","title":"Gene full name","type":"string","value_example":"DEAD/H-box helicase 11 like 1; WASP family homolog 7, pseudogene; microRNA 6859-1; MIR1302-2 host gene; microRNA 1302-2; family with sequence similarity 138 member A; 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107080; 110233"},"title":"BioGrid","type":"array"},"brainatlas_microarray":{"do_import":true,"field_name":"brainatlas_microarray","link":"https://human.brain-map.org/microarray/search/show?exact_match=false&search_term=%22<ID>%22&search_type=gene","schema_title":"BrainAtlas Microarray","source_name":"BrainAtlas","source_version":"March.2013","title":"BrainAtlas Microarray","type":"string","value_example":"BRCA"},"brainspan_microarray":{"do_import":true,"field_name":"brainspan_microarray","link":"https://www.brainspan.org/lcm/search?exact_match=false&search_term=%<ID>%22&search_type=gene","schema_title":"BrainSpan Microarray","source_name":"BrainSpan","source_version":"March.2013","title":"BrainSpan Microarray","type":"string","value_example":"BRCA"},"brainspan_rnaseq":{"do_import":true,"field_name":"brainspan_rnaseq","link":"https://www.brainspan.org/rnaseq/searches?exact_match=false&search_term=<ID>","schema_title":"BrainSpan RNAseq","source_name":"BrainSpan","source_version":"March.2013","title":"BrainSpan RNAseq","type":"string","value_example":"ENSG00000070669"},"ccds_id":{"field_name":"ccds_id","items":{"annotation_category":"dbxref","description":"The Consensus CDS (CCDS) project: a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality","do_import":true,"field_name":"ccds_id","link":"https://www.ncbi.nlm.nih.gov/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&DATA=<ID>","pattern":"^CCDS[0-9]+","schema_title":"CCDS","source_name":"HGNC","source_version":"2020-02-24","title":"CCDS","type":"string","value_example":"CCDS30547; CCDS72675; CCDS41221; CCDS2; CCDS3; CCDS30550; CCDS4|CCDS53256; CCDS76083; CCDS5|CCDS44034; CCDS6"},"title":"CCDS","type":"array"},"cds_length":{"do_import":true,"field_name":"cds_length","schema_title":"CDS length","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"CDS length","type":"integer","value_example":"915; 2043; 2247; 1926; 1833; 2088; 741; 495; 6135; 747"},"chrom":{"description":"name of the chromosome or scaffold; chromosome names without a 'chr'","do_import":true,"enum":["1","2","3","4","5","6","7","8","9","10","11","12","13","14","15","16","17","18","19","20","21","22","X","Y","M"],"field_name":"chrom","schema_title":"Chromosome","source_name":"ENSEMBLgene","source_version":"v99","title":"Chromosome","type":"string","value_example":"1; 2; 3; 4; 5; 6; 7; X; 8; 9"},"chrom_hg19":{"description":"name of the chromosome or scaffold in hg19; chromosome names without a 'chr'","do_import":true,"field_name":"chrom_hg19","schema_title":"Chromosome (hg19)","source_name":"ENSEMBLgeneGRCh37","source_version":"v75(GRCh37.p13)","title":"Chromosome (hg19)","type":"string"},"clingen":{"annotation_category":"dbxref","comments":"Keep as a link","description":"ClinGen","do_import":true,"field_name":"clingen","link":"https://search.clinicalgenome.org/kb/genes/HGNC:<ID>","pattern":"^[0-9]+$","schema_title":"ClinGen","source_name":"ClinGen","source_version":"20200309","title":"ClinGen","type":"string","value_example":"329; 17978; 4396; 10896; 12003; 19104; 13281; 29105; 18806; 16369"},"clingendis":{"items":{"properties":{"classification":{"do_import":true,"enum":["Definitive","Disputed","Limited","Moderate","No Reported Evidence","Refuted","Strong"],"field_name":"classification","schema_title":"Classification","source_name":"ClinGenDisease","source_version":"20200309","sub_embedding_group":"{\"key\": \"clingendis\", \"title\": \"ClinGen-Disease\"}","title":"Classification","type":"string","value_example":"Definitive; Limited|Definitive; Moderate; Limited; Disputed|Strong; Moderate|Definitive|Limited|No Reported Evidence|Limited|No Reported Evidence; Definitive|Moderate; Strong; Disputed; Limited|No Reported Evidence|Limited|Definitive|Limited"},"disease_id":{"do_import":true,"field_name":"disease_id","link":"https://search.clinicalgenome.org/kb/conditions/<ID>","pattern":"^MONDO_[0-9]+$","schema_title":"Disease ID (MONDO)","source_name":"ClinGenDisease","source_version":"20200309","sub_embedding_group":"{\"key\": \"clingendis\", \"title\": \"ClinGen-Disease\"}","title":"Disease ID (MONDO)","type":"string","value_example":"MONDO_0008426; MONDO_0019497|MONDO_0019497; MONDO_0009353; MONDO_0009401; MONDO_0013343; MONDO_0009520; MONDO_0005045; MONDO_0019497|MONDO_0017851; MONDO_0019354; MONDO_0019497"},"disease_label":{"description":"Disease label list","do_import":true,"field_name":"disease_label","schema_title":"Disease Label","source_name":"ClinGenDisease","source_version":"20200309","sub_embedding_group":"{\"key\": \"clingendis\", \"title\": \"ClinGen-Disease\"}","title":"Disease Label","type":"string","value_example":"Shprintzen-Goldberg syndrome; nonsyndromic genetic deafness|nonsyndromic genetic deafness; homocystinuria due to methylene tetrahydrofolate reductase deficiency; hyperprolinemia type 2; C1Q deficiency; 3-hydroxy-3-methylglutaric aciduria; hypertrophic cardiomyopathy; nonsyndromic genetic deafness|erythrokeratodermia variabilis; Stickler syndrome; nonsyndromic genetic deafness"},"inheritance":{"do_import":true,"enum":["Autosomal Dominant","Autosomal Recessive","Mitochondrial","Semidominant","X-linked","Undetermined MOI","Other"],"field_name":"inheritance","schema_title":"Inheritance","source_name":"ClinGenDisease","source_version":"20200309","sub_embedding_group":"{\"key\": \"clingendis\", \"title\": \"ClinGen-Disease\"}","title":"Inheritance","type":"string","value_example":"Autosomal Dominant; Autosomal Dominant|Autosomal Recessive; Autosomal Recessive; Autosomal Dominant|Autosomal Dominant; Autosomal Dominant|Autosomal Recessive|Autosomal Dominant|Autosomal Dominant|Autosomal Recessive|Autosomal Recessive; Autosomal Recessive|Autosomal Dominant; Autosomal Dominant|Autosomal Dominant|Autosomal Dominant|Autosomal Dominant|Autosomal Dominant; Autosomal Dominant|Autosomal Recessive|Autosomal Dominant; Autosomal Dominant|Autosomal Dominant|Autosomal Recessive; Autosomal Dominant|Autosomal Dominant|Autosomal Dominant|Autosomal Dominant"}},"title":"ClinGen-Disease","type":"object"},"title":"ClinGen-Disease","type":"array"},"cytoband":{"field_name":"cytoband","items":{"description":"cytoband","do_import":true,"field_name":"cytoband","schema_title":"Cytoband","source_name":"CYTOBAND","source_version":"2017-07-17","title":"Cytoband","type":"string","value_example":"1p36.33; 1p36.32; 1p36.31; 1p36.23; 1p36.22; 1p36.21; 1p36.13; 1p36.12; 1p36.11; 1p35.3"},"title":"Cytoband","type":"array"},"ensgid":{"description":"The stable identifier for the gene","do_import":true,"field_name":"ensgid","link":"https://useast.ensembl.org/Homo_sapiens/Gene/Summary?g=<ID>","pattern":"^ENSG[0-9]{11}$","schema_title":"ENSEMBL gene ID","source_name":"ENSEMBLgene","source_version":"v99","title":"ENSEMBL gene ID","type":"string","uniqueKey":true,"value_example":"ENSG00000223972; 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2.4538e+01; 4.1785e+01; 2.8650e+01; 3.1069e+01; 1.7757e+01; 3.5300e+00; 1.1056e+00; 9.0870e+01; 2.1002e+00"},"exp_mis":{"do_import":true,"field_name":"exp_mis","schema_title":"Expected missense","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"Expected missense","type":"number","value_example":"8.2715e+01; 3.6202e+02; 4.6201e+02; 4.3355e+02; 3.8117e+02; 3.9110e+02; 9.0430e+01; 1.1566e+02; 1.3261e+03; 1.0779e+02"},"exp_syn":{"do_import":true,"field_name":"exp_syn","schema_title":"Expected synonymous","source_name":"gnomADmetrics","source_version":"v2.1.1","title":"Expected synonymous","type":"number","value_example":"3.0512e+01; 1.5898e+02; 1.9938e+02; 2.0109e+02; 1.7452e+02; 1.7481e+02; 4.1769e+01; 5.8149e+01; 6.0335e+02; 5.0639e+01"},"gdi_phred":{"comments":"??also change to no??","description":"Phred-scaled GDI scores","do_import":true,"field_name":"gdi_phred","schema_title":"GDI phred score","source_name":"dbNSFP","source_version":"4.0c","title":"GDI phred score","type":"number","value_example":"2.31572; 5.65821; 5.53337; 1.58809; 5.29021; 7.82660; 6.95277; 6.86990; 3.96842; 1.51792"},"gdp":{"description":"gene damage prediction (low/medium/high) by GDI for all diseases","do_import":true,"enum":["Medium","High","Low"],"field_name":"gdp","schema_title":"Gene damage prediction (all disease-causing genes)","source_name":"dbNSFP","source_version":"4.0c","title":"Gene damage prediction (all disease-causing genes)","type":"string","value_example":"Medium; High; Low"},"gene_biotype":{"description":"The biotype of this gene","do_import":true,"enum":["protein_coding","IG_C_gene","IG_C_pseudogene","IG_D_gene","IG_J_gene","IG_J_pseudogene","IG_pseudogene","IG_V_gene","IG_V_pseudogene","lncRNA","miRNA","misc_RNA","Mt_rRNA","Mt_tRNA","polymorphic_pseudogene","processed_pseudogene","pseudogene","ribozyme","rRNA","rRNA_pseudogene","scaRNA","scRNA","snoRNA","snRNA","sRNA","TEC","transcribed_processed_pseudogene","transcribed_unitary_pseudogene","transcribed_unprocessed_pseudogene","translated_processed_pseudogene","translated_unprocessed_pseudogene","TR_C_gene","TR_D_gene","TR_J_gene","TR_J_pseudogene","TR_V_gene","TR_V_pseudogene","unitary_pseudogene","unprocessed_pseudogene","vaultRNA"],"field_name":"gene_biotype","schema_title":"Gene biotype","source_name":"ENSEMBLgene","source_version":"v99","title":"Gene biotype","type":"string","value_example":"transcribed_unprocessed_pseudogene; 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It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010].; The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012].; This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008].; This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011].; DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008].; The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. COMPLETENESS: complete on the 3' end.; This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014].; The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017].; This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. 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MGI:2446220; MGI:1931051; MGI:2678948; MGI:2387630; MGI:1921433; MGI:1855694; MGI:87961; MGI:3588193; MGI:2444364"},"title":"MGI","type":"array"},"mgi_mouse_gene":{"description":"Homolog mouse gene name from MGI","do_import":true,"field_name":"mgi_mouse_gene","schema_title":"Mouse gene (MGI)","source_name":"dbNSFP","source_version":"4.0c","title":"Mouse gene (MGI)","type":"string","value_example":"Olfr1303; Samd11; Noc2l; Klhl17; Plekhn1; Perm1; Isg15; Agrn; Rnf223; 9430015G10Rik"},"mgi_mouse_phenotype":{"description":"Phenotype description for the homolog mouse gene from MGI","do_import":true,"field_name":"mgi_mouse_phenotype","schema_title":"Mouse phenotype (MGI)","source_name":"dbNSFP","source_version":"4.0c","title":"Mouse phenotype (MGI)","type":"string","value_example":"endocrine/exocrine gland phenotype; cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype; skeleton phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; renal/urinary system phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); 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immune system phenotype; digestive/alimentary phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; respiratory system phenotype; liver/biliary system phenotype; growth/size/body region phenotype; taste/olfaction phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); 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diff --git a/schemas/draft-04/schema.json b/schemas/draft-04/schema.json
new file mode 100644
index 0000000..bcbb847
--- /dev/null
+++ b/schemas/draft-04/schema.json
@@ -0,0 +1,149 @@
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