### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ID4) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ID4" "inhibitor of DNA binding 4, dominant negative helix-loop-helix protein" "6" "p22.3" "unknown" "NC_000006.11" "UD_136087659351" "" "http://www.LOVD.nl/ID4" "" "1" "5363" "3400" "600581" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ID4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 14:50:47" "00006" "2026-05-06 10:04:47" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009779" "ID4" "inhibitor of DNA binding 4, dominant negative helix-loop-helix protein" "001" "NM_001546.3" "" "NP_001537.1" "" "" "" "-385" "3491" "486" "19837601" "19842431" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00081431" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00474045" "" "" "" "1" "" "04852" "{PMID:Lucas-Castro 2026: 42069959}, {DOI:Lucas-Castro 2026:10.1038/s41431-026-02124-8}" "" "F" "no" "Argentina" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00081431" "05155" "00474045" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05155 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000061033" "05155" "00081431" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "0000359701" "00198" "00474045" "04852" "Isolated (sporadic)" "8.3y" "see paper; ..., 38wg-birth cesarean section (breech presentation), weight 2990 g (0.0 SD), length 41 cm (–3.6 SD); 1.9y-disproportionate short stature (height –3.5 SD), severe bilateral tibiofibular defect; 8.3y-disproportionate short stature, mesomelic shortening lower limbs (–2.8 SD, sitting height/height +4.8 SD), functional gait, autonomy in daily activities, attends regular schooling, support due to difficulties reading/writing" "1.9y" "" "" "" "" "" "" "SVMD (OMIN:605274)" "mesomelic dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081562" "00081431" "1" "01783" "01783" "2016-10-13 16:53:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000475715" "00474045" "1" "04852" "04852" "2026-03-09 10:20:30" "" "" "SEQ-NG" "DNA" "Blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081562" "ID4" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 6 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000132225" "0" "50" "6" "19838010" "19838010" "subst" "0" "01783" "ID4_000001" "g.19838010C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.19837779C>T" "" "VUS" "" "0000977112" "0" "50" "6" "19838436" "19838436" "subst" "0" "01804" "ID4_000002" "g.19838436C>T" "" "" "" "ID4(NM_001546.4):c.441+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035631" "0" "50" "6" "19838010" "19838010" "subst" "0" "01804" "ID4_000001" "g.19838010C>T" "" "" "" "ID4(NM_001546.4):c.25C>T (p.(Pro9Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035632" "0" "50" "6" "19838205" "19838205" "subst" "0" "01804" "ID4_000003" "g.19838205C>T" "" "" "" "ID4(NM_001546.4):c.220C>T (p.(Arg74Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035633" "0" "30" "6" "19838350" "19838350" "subst" "0.000157317" "01804" "ID4_000004" "g.19838350C>G" "" "" "" "ID4(NM_001546.4):c.365C>G (p.(Ala122Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001070241" "0" "70" "6" "19066291" "21763277" "delins" "0" "04852" "CDKAL1_000005" "g.19066291_21763277delins[CGAATTAACTGT;19066282_21763276inv]" "" "{PMID:Lucas-Castro 2026: 42069959}, {DOI:Lucas-Castro 2026:10.1038/s41431-026-02124-8}" "" "g.19066067_21763050inv" "" "De novo" "yes" "" "0" "" "" "g.19066060_21763046delins[CGAATTAACTGT;19066051_21763045inv]" "" "pathogenic (dominant)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ID4 ## Count = 6 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000132225" "00009779" "50" "25" "0" "25" "0" "c.25C>T" "r.(25c>u)" "p.(Pro9Ser)" "1" "0000977112" "00009779" "50" "441" "10" "441" "10" "c.441+10C>T" "r.(=)" "p.(=)" "" "0001035631" "00009779" "50" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Pro9Ser)" "" "0001035632" "00009779" "50" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "" "0001035633" "00009779" "30" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Ala122Gly)" "" "0001070241" "00009779" "70" "-771695" "0" "1924337" "0" "c.-771695_*1923851delins[CGAATTAACTGT;-771704_*1923850inv]" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000081562" "0000132225" "0000475715" "0001070241"