PDE8B, phosphodiesterase 8B, 8622

N. diseases: 89; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853158
rs878853158
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1836694
Disease:
Striatal Degeneration, Autosomal Dominant
0.010 GeneticVariation BEFREE An ADSD diagnosis was confirmed by a nonsense mutation in PDE8B (p.E102X) in a patient and a presymptomatic carrier. 31726290 2019
dbSNP: rs2046045
rs2046045
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1304508
Disease:
Spindle cell hemangioma
0.010 GeneticVariation BEFREE After adjusting for multiple testing by the program SNPSpD, allelic frequencies of rs4704397 (p = 0.016, OR = 1.692), rs6885099 (p = 0.031, OR = 0.621), and rs2046045 (p = 0.023, OR = 0.602) in PDE8B gene showed significant differences between patients with SCH and control subjects. 25822812 2015
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1304508
Disease:
Spindle cell hemangioma
0.010 GeneticVariation BEFREE After adjusting for multiple testing by the program SNPSpD, allelic frequencies of rs4704397 (p = 0.016, OR = 1.692), rs6885099 (p = 0.031, OR = 0.621), and rs2046045 (p = 0.023, OR = 0.602) in PDE8B gene showed significant differences between patients with SCH and control subjects. 25822812 2015
dbSNP: rs6885099
rs6885099
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1304508
Disease:
Spindle cell hemangioma
0.010 GeneticVariation BEFREE After adjusting for multiple testing by the program SNPSpD, allelic frequencies of rs4704397 (p = 0.016, OR = 1.692), rs6885099 (p = 0.031, OR = 0.621), and rs2046045 (p = 0.023, OR = 0.602) in PDE8B gene showed significant differences between patients with SCH and control subjects. 25822812 2015
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE If the relation between thyroid function and CVD is causal, one could also expect rs4704397 genotypes to predict CVD and possibly health in general. 23941514 2014
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE rs4704397 is associated with thyroid function, risk of MI, and body height. 23941514 2014
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0040128
Disease:
Thyroid Diseases
0.010 GeneticVariation BEFREE From the Tromsø Study, 8938 subjects without thyroid disease or thyroid medication were successfully genotyped for rs4704397. 23941514 2014
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE DNA was prepared and genotyping performed for rs4704397 in subjects who participated in the fourth survey of the Tromsø Study in 1994-1995 and who were registered with the endpoints myocardial infarction (MI), type 2 diabetes (T2DM), cancer, or death, as well as a randomly selected control group. 23941514 2014
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE DNA was prepared and genotyping performed for rs4704397 in subjects who participated in the fourth survey of the Tromsø Study in 1994-1995 and who were registered with the endpoints myocardial infarction (MI), type 2 diabetes (T2DM), cancer, or death, as well as a randomly selected control group. 23941514 2014
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE DNA was prepared and genotyping performed for rs4704397 in subjects who participated in the fourth survey of the Tromsø Study in 1994-1995 and who were registered with the endpoints myocardial infarction (MI), type 2 diabetes (T2DM), cancer, or death, as well as a randomly selected control group. 23941514 2014
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2362324
Disease:
Pediatric Obesity
0.010 GeneticVariation BEFREE Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity. 22084153 2012
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1997262
Disease:
Hypothyroidism in pregnancy
0.010 GeneticVariation BEFREE We aimed to assess whether genetic variation in TSH due to the rs4704397 genotype affects the number of individuals classified as having subclinical hypothyroidism in pregnancy. 19820008 2009
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0271790
Disease:
Subclinical hypothyroidism
0.010 GeneticVariation BEFREE Genetic variation in TSH levels in pregnancy associated with the PDE8B rs4704397 genotype has implications for the number of women treated for subclinical hypothyroidism under current guidelines. 19820008 2009
dbSNP: rs10036386
rs10036386
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0020676
Disease:
Hypothyroidism
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1382894
rs1382894
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs1479559
rs1479559
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4703730
rs4703730
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1382879
rs1382879
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0020676
Disease:
Hypothyroidism
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018
dbSNP: rs2046045
rs2046045
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0020550
Disease:
Hyperthyroidism
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018
dbSNP: rs10061629
rs10061629
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10942819
rs10942819
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11750661
rs11750661
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17671389
rs17671389
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6453303
rs6453303
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6453304
rs6453304
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017