### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGER) # 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}}" "AGER" "advanced glycosylation end-product specific receptor" "6" "p21.32" "unknown" "NG_029868.1" "UD_144407849485" "" "" "" "1" "320" "177" "600214" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-03 11:54:13" "" "" "00006" "2021-09-08 15:04:55" ## 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}}" "00000085" "AGER" "transcript variant 1" "008" "NM_001136.4" "" "NP_001127.1" "" "" "" "-100" "1390" "1215" "32184322" "32180968" "00001" "2021-01-03 11:54:13" "" "" ## 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}}" "00050" "T2DM" "Type 2 Diabetes Mellitus" "" "" "" "" "" "00001" "2020-12-28 15:37:52" "" "" "00051" "CKD" "Chronic kidney disease" "" "" "kidney" "" "" "00001" "2021-01-03 11:53:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AGER" "00051" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000313" "" "" "" "1" "" "00002" "{PMID:Foo Nian Wong et al. (2016):27114872}" "" "" "Malaysia" "" "" "" "00000349" "" "" "" "1" "" "00002" "{PMID:Zhi Xiang Ng et al. (2012):22116960}" "" "" "Malaysia" "" "" "" "00000350" "" "" "" "1" "" "00002" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "" "" "Malaysia" "" "" "" "00000449" "" "" "" "1" "" "00002" "{PMID:Z X Ng et al. (2012):22427038}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000313" "00051" "00000349" "00050" "00000350" "00050" "00000449" "00050" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00050, 00051 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000132" "00051" "00000313" "00002" "This studies were compared between the non-diabetic CKD patients, diabetic CKD patients and healthy controls." "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000328" "00000313" "1" "00002" "00002" "2021-01-03 12:07:51" "" "" "PCRm;TaqMan" "DNA" "0000000363" "00000349" "1" "00002" "00002" "2021-01-13 15:05:09" "" "" "PCR;SEQ" "DNA" "0000000364" "00000350" "1" "00002" "00002" "2021-01-13 15:37:43" "" "" "PCR;SEQ" "DNA" "0000000487" "00000449" "1" "00002" "00002" "2021-02-22 16:22:09" "" "" "PCRdig" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000328" "AGER" "0000000363" "AGER" "0000000364" "AGER" "0000000487" "AGER" ## 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 = 26 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001483" "0" "70" "6" "32183666" "32183666" "subst" "0" "00002" "AGER_000001" "g.32183666C>T" "39/102" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs2070600}" "G82S" "non-diabetic (ND-CKD)" "rs2070600" "0000001484" "0" "90" "6" "32183666" "32183666" "subst" "0" "00002" "AGER_000001" "g.32183666C>T" "51/204" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs2070600}" "G82S" "diabetic (D-CKD)" "rs2070600" "0000001485" "0" "70" "6" "32184610" "32184610" "subst" "0" "00002" "AGER_000002" "g.32184610A>T" "22/102" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs1800624}" "−374T/A" "non-diabetic (ND-CKD)" "rs1800624" "0000001486" "0" "90" "6" "32184610" "32184610" "subst" "0" "00002" "AGER_000002" "g.32184610A>T" "48/204" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs1800624}" "−374T/A" "diabetic (D-CKD)" "rs1800624" "0000001487" "0" "70" "6" "32184665" "32184665" "subst" "0" "00002" "AGER_000003" "g.32184665A>G" "16/102" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs1800625}" "−429T/C" "non-diabetic (ND-CKD)" "rs1800625" "0000001488" "0" "90" "6" "32184665" "32184665" "subst" "0" "00002" "AGER_000003" "g.32184665A>G" "46/204" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs1800625}" "−429T/C" "diabetic (D-CKD)" "rs1800625" "0000001489" "0" "70" "6" "32182519" "32182519" "subst" "0" "00002" "AGER_000004" "g.32182519C>A" "42/102" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs184003}" "1704G/T" "non-diabetic (ND-CKD)" "rs184003" "0000001490" "0" "90" "6" "32182519" "32182519" "subst" "0" "00002" "AGER_000004" "g.32182519C>A" "70/204" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs184003}" "1704G/T" "diabetic (D-CKD)" "rs184003" "0000001491" "0" "70" "6" "32182039" "32182039" "subst" "0" "00002" "AGER_000005" "g.32182039T>C" "16/102" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs3134940}" "2184A/G" "non-diabetic (ND-CKD)" "rs3134940" "0000001492" "0" "90" "6" "32182039" "32182039" "subst" "0" "00002" "AGER_000005" "g.32182039T>C" "46/204" "{PMID:Foo Nian Wong et al. (2016):27114872}, {dbSNP:rs3134940}" "2184A/G" "diabetic (D-CKD)" "rs3134940" "0000001613" "0" "90" "6" "32180113" "32180113" "subst" "0" "00002" "AGER_000006" "g.32180113C>T" "28/171" "{PMID:Zhi Xiang Ng et al. (2012):22116960}" "2245G/A" "DNR (diabetic non-retinopathy)" "rs150400704" "0000001614" "0" "90" "6" "32180113" "32180113" "subst" "0" "00002" "AGER_000006" "g.32180113C>T" "52/171" "{PMID:Zhi Xiang Ng et al. (2012):22116960}" "2245G/A" "DR (diabetic retinopathy)" "rs150400704" "0000001615" "0" "90" "6" "32184665" "32184665" "subst" "0" "00002" "AGER_000003" "g.32184665A>G" "47/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "−429T/C" "DNR (diabetic non-retinopathy)" "rs796452917" "0000001616" "3" "90" "6" "32184665" "32184665" "subst" "0" "00002" "AGER_000003" "g.32184665A>G" "4/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "-429T/C" "DNR (diabetic non-retinopathy)" "rs796452917" "0000001617" "0" "90" "6" "32184665" "32184665" "subst" "0" "00002" "AGER_000003" "g.32184665A>G" "37/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "-429T/C" "DR (diabetic retinopathy)" "rs796452917" "0000001618" "3" "90" "6" "32184665" "32184665" "subst" "0" "00002" "AGER_000003" "g.32184665A>G" "2/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "-429T/C" "DR (diabetic retinopathy)" "rs796452917" "0000001619" "0" "90" "6" "32184610" "32184610" "subst" "0" "00002" "AGER_000002" "g.32184610A>T" "56/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "−374T/A" "DNR (diabetic non-retinopathy)" "rs886057791" "0000001620" "3" "90" "6" "32184610" "32184610" "subst" "0" "00002" "AGER_000002" "g.32184610A>T" "2/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "-374T/A" "DNR (diabetic non-retinopathy)" "rs886057791" "0000001621" "0" "90" "6" "32184610" "32184610" "subst" "0" "00002" "AGER_000002" "g.32184610A>T" "54/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "-374T/A" "DR (diabetic retinopathy)" "rs886057791" "0000001622" "3" "90" "6" "32184610" "32184610" "subst" "0" "00002" "AGER_000002" "g.32184610A>T" "7/171" "{PMID:Zhi Xiang Ng et al. (2012):22154374}" "-374T/A" "DR (diabetic retinopathy)" "rs886057791" "0000002097" "0" "90" "6" "32183666" "32183666" "subst" "0" "00002" "AGER_000001" "g.32183666C>T" "17/98" "{PMID:Z X Ng et al. (2012):22427038}, {dbSNP:rs2070600}" "Gly82Ser" "" "rs2070600" "0000002098" "3" "90" "6" "32183666" "32183666" "subst" "0" "00002" "AGER_000001" "g.32183666C>T" "81/98" "{PMID:Z X Ng et al. (2012):22427038}, {dbSNP:rs2070600}" "Gly82Ser" "" "rs2070600" "0000002099" "0" "90" "6" "32182519" "32182519" "subst" "0" "00002" "AGER_000004" "g.32182519C>A" "37/98" "{PMID:Z X Ng et al. (2012):22427038}, {dbSNP:rs184003}" "1704G/T" "" "rs184003" "0000002100" "3" "90" "6" "32182519" "32182519" "subst" "0" "00002" "AGER_000004" "g.32182519C>A" "61/98" "{PMID:Z X Ng et al. (2012):22427038}, {dbSNP:rs184003}" "1704G/T" "" "rs184003" "0000002101" "0" "90" "6" "32182039" "32182039" "subst" "0" "00002" "AGER_000005" "g.32182039T>C" "25/98" "{PMID:Z X Ng et al. (2012):22427038}, {dbSNP:rs3134940}" "2184A/G" "" "rs3134940" "0000002102" "3" "90" "6" "32182039" "32182039" "subst" "0" "00002" "AGER_000005" "g.32182039T>C" "73/98" "{PMID:Z X Ng et al. (2012):22427038}, {dbSNP:rs3134940}" "2184A/G" "" "rs3134940" ## 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 AGER ## Count = 26 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001483" "00000085" "70" "244" "0" "244" "0" "c.244G>A" "" "p.(Gly82Ser)" "r.(?)" "" "" "" "0000001484" "00000085" "90" "244" "0" "244" "0" "c.244G>A" "" "p.(Gly82Ser)" "r.(?)" "" "" "" "0000001485" "00000085" "70" "-388" "0" "-388" "0" "c.-388T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001486" "00000085" "90" "-388" "0" "-388" "0" "c.-388T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001487" "00000085" "70" "-443" "0" "-443" "0" "c.-443T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001488" "00000085" "90" "-443" "0" "-443" "0" "c.-443T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001489" "00000085" "70" "822" "49" "822" "49" "c.822+49G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001490" "00000085" "90" "822" "49" "822" "49" "c.822+49G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001491" "00000085" "70" "964" "208" "964" "208" "c.964+208A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001492" "00000085" "90" "964" "208" "964" "208" "c.964+208A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001613" "00000085" "90" "2245" "0" "2245" "0" "c.*1030G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001614" "00000085" "90" "2245" "0" "2245" "0" "c.*1030G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001615" "00000085" "90" "-443" "0" "-443" "0" "c.-443T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001616" "00000085" "90" "-443" "0" "-443" "0" "c.-443T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001617" "00000085" "90" "-443" "0" "-443" "0" "c.-443T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001618" "00000085" "90" "-443" "0" "-443" "0" "c.-443T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001619" "00000085" "90" "-388" "0" "-388" "0" "c.-388T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001620" "00000085" "90" "-388" "0" "-388" "0" "c.-388T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001621" "00000085" "90" "-388" "0" "-388" "0" "c.-388T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001622" "00000085" "90" "-388" "0" "-388" "0" "c.-388T>A" "" "p.(=)" "r.(=)" "" "" "" "0000002097" "00000085" "90" "244" "0" "244" "0" "c.244G>A" "" "p.(Gly82Ser)" "r.(?)" "" "" "" "0000002098" "00000085" "90" "244" "0" "244" "0" "c.244G>A" "" "p.(Gly82Ser)" "r.(?)" "" "" "" "0000002099" "00000085" "90" "822" "49" "822" "49" "c.822+49G>T" "" "p.(=)" "r.(=)" "" "" "" "0000002100" "00000085" "90" "822" "49" "822" "49" "c.822+49G>T" "" "p.(=)" "r.(=)" "" "" "" "0000002101" "00000085" "90" "964" "208" "964" "208" "c.964+208A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002102" "00000085" "90" "964" "208" "964" "208" "c.964+208A>G" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000000328" "0000001483" "0000000328" "0000001484" "0000000328" "0000001485" "0000000328" "0000001486" "0000000328" "0000001487" "0000000328" "0000001488" "0000000328" "0000001489" "0000000328" "0000001490" "0000000328" "0000001491" "0000000328" "0000001492" "0000000363" "0000001613" "0000000363" "0000001614" "0000000364" "0000001615" "0000000364" "0000001616" "0000000364" "0000001617" "0000000364" "0000001618" "0000000364" "0000001619" "0000000364" "0000001620" "0000000364" "0000001621" "0000000364" "0000001622" "0000000487" "0000002097" "0000000487" "0000002098" "0000000487" "0000002099" "0000000487" "0000002100" "0000000487" "0000002101" "0000000487" "0000002102"