FIGNL1, fidgetin like 1, 63979

N. diseases: 23; N. variants: 60
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853208
rs137853208
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0233514
Disease:
Abnormal behavior 		0.010 GeneticVariation BEFREE We report the case of a Caucasian 43-year-old woman heterozygous for p.Ser250Phe in DDC, encoding for AADC with a positive family history for behavioral problems. 29851841 2018
dbSNP: rs7809758
rs7809758
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
dbSNP: rs880028
rs880028
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
dbSNP: rs7809758
rs7809758
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
dbSNP: rs880028
rs880028
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
dbSNP: rs1181496880
rs1181496880
Entrez Id: 1644;63979;100129427
Gene Symbol: DDC;FIGNL1;DDC-AS1
DDC;FIGNL1;DDC-AS1
CUI: C0342686
Disease:
Aromatic amino acid decarboxylase deficiency 		0.010 GeneticVariation BEFREE This patient possessed compound heterozygous mutations in DDC (p.Trp105Cys, p.Pro129Ser), with a CSF draw indicating abnormal patterns of biogenic amine metabolites, compatible with AADC deficiency. 27371992 2016
dbSNP: rs1285477390
rs1285477390
Entrez Id: 1644;63979;100129427
Gene Symbol: DDC;FIGNL1;DDC-AS1
DDC;FIGNL1;DDC-AS1
CUI: C0342686
Disease:
Aromatic amino acid decarboxylase deficiency 		0.010 GeneticVariation BEFREE Multiple tests had not yielded a diagnosis until exome sequencing revealed compound heterozygous variants of uncertain significance (VUS), c.286G>A (p.G96R) and c.260C>T (p.P87L) in the DDC gene, causal for AADC deficiency. 25956449 2016
dbSNP: rs137853208
rs137853208
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0342686
Disease:
Aromatic amino acid decarboxylase deficiency 		0.010 GeneticVariation BEFREE S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine. 23321058 2013
dbSNP: rs201951824
rs201951824
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0342686
Disease:
Aromatic amino acid decarboxylase deficiency 		0.010 GeneticVariation BEFREE Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations. 29356298 2018
dbSNP: rs746244631
rs746244631
Entrez Id: 1644;63979;100129427
Gene Symbol: DDC;FIGNL1;DDC-AS1
DDC;FIGNL1;DDC-AS1
CUI: C0342686
Disease:
Aromatic amino acid decarboxylase deficiency 		0.010 GeneticVariation BEFREE Multiple tests had not yielded a diagnosis until exome sequencing revealed compound heterozygous variants of uncertain significance (VUS), c.286G>A (p.G96R) and c.260C>T (p.P87L) in the DDC gene, causal for AADC deficiency. 25956449 2016
dbSNP: rs771317809
rs771317809
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0342686
Disease:
Aromatic amino acid decarboxylase deficiency 		0.010 GeneticVariation BEFREE Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations. 29356298 2018
dbSNP: rs6592961
rs6592961
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0004352
Disease:
Autistic Disorder 		0.010 GeneticVariation BEFREE A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047). 22397633 2013
dbSNP: rs4947584
rs4947584
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12718541
rs12718541
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0006012
Disease:
Borderline Personality Disorder 		0.010 GeneticVariation BEFREE The present collaborative candidate gene study of 987 BPD cases and 1110 healthy controls found an association between BPD and single nucleotide polymorphism rs12718541 in the dopa decarboxylase gene. 25017620 2014
dbSNP: rs7809758
rs7809758
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
dbSNP: rs880028
rs880028
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
dbSNP: rs11575542
rs11575542
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.010 GeneticVariation BEFREE The highly heritable DA excretion trait is substantially influenced by a previously uncharacterized common coding variant (Arg462Gln) at the DDC gene that affects multiple renal tubular and glomerular traits, and predicts accelerated functional decline in chronic kidney disease. 30911067 2019
dbSNP: rs10899734
rs10899734
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10899735
rs10899735
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs11238138
rs11238138
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs11575457
rs11575457
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs11980368
rs11980368
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs12718528
rs12718528
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs12718529
rs12718529
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs13311361
rs13311361
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012