|
rs11575542
|
DDC;FIGNL1
|
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 |
|
rs137853208
|
DDC;FIGNL1
|
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 |
|
rs201951824
|
DDC;FIGNL1
|
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 |
|
rs771317809
|
DDC;FIGNL1
|
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 |
|
rs7809758
|
DDC;FIGNL1
|
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 |
|
rs7809758
|
DDC;FIGNL1
|
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 |
|
rs7809758
|
DDC;FIGNL1
|
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 |
|
rs880028
|
DDC;FIGNL1
|
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 |
|
rs880028
|
DDC;FIGNL1
|
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 |
|
rs880028
|
DDC;FIGNL1
|
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 |
|
rs1181496880
|
DDC;FIGNL1;DDC-AS1
|
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 |
|
rs1181496880
|
DDC;FIGNL1;DDC-AS1
|
Deficiency of aromatic-L-amino-acid decarboxylase
|
|
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 |
|
rs1285477390
|
DDC;FIGNL1;DDC-AS1
|
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 |
|
rs1285477390
|
DDC;FIGNL1;DDC-AS1
|
Deficiency of aromatic-L-amino-acid decarboxylase
|
|
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 |
|
rs2242041
|
DDC;FIGNL1
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that with the similar effect to GWASs, risk alleles of rs2191566, rs9290663, rs11155133, rs2239633, rs10821936, and rs2242041 significantly increased the risk of AML in at least one genetic model [odds ratios (ORs) range from 1.26 to 4.34, P values range from <0.001 to 0.043].
|
26177813 |
2016 |
|
rs746244631
|
DDC;FIGNL1;DDC-AS1
|
Deficiency of aromatic-L-amino-acid decarboxylase
|
|
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 |
|
rs746244631
|
DDC;FIGNL1;DDC-AS1
|
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 |
|
rs778052047
|
DDC;FIGNL1
|
Heroin Dependence
|
|
0.010 |
GeneticVariation |
BEFREE |
The Met allele of the functional COMT Val158Met was associated with protection from OD.
|
25875614 |
2015 |
|
rs12718541
|
DDC;FIGNL1
|
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 |
|
rs137853208
|
DDC;FIGNL1
|
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 |
|
rs3735273
|
DDC;FIGNL1
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation |
BEFREE |
DRD4 sites showed significant difference in allelic frequencies by case-control analysis, while DDC and COMT exhibited bias in familial transmission (P < 0.05). rs3837091 "AGAG," rs3735273 "A," rs1799732 "C," rs740603 "G," rs165599 "G" and single repeat alleles of rs4646984/rs4646983 showed positive correlation with co-morbid characteristics (P < 0.05).
|
24163823 |
2013 |
|
rs6592961
|
DDC;FIGNL1
|
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 |
|
rs12718541
|
DDC;FIGNL1
|
Nicotine Dependence
|
|
0.010 |
GeneticVariation |
BEFREE |
Although sequence analysis suggests that rs12718541 may be an intronic splicing enhancer, further studies are needed to determine whether a direct link exists between an alternatively spliced form of DDC and predisposition to ND.
|
16740595 |
2006 |
|
rs2060762
|
DDC;FIGNL1
|
Nicotine Dependence
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype-based association analysis revealed a protective T-G-T-G haplotype for rs921451-rs3735273-rs1451371-rs2060762 in the AA sample, which was significantly associated with all three adjusted ND measures after correction for multiple testing (min Z=-2.78, P=0.006 for HSI).
|
15879433 |
2005 |
|
rs1195471902
|
DDC;FIGNL1
|
Premature Menopause
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the patients, a woman with Addison's disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene.
|
10634424 |
2000 |