### 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/Lung}}" "{{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"