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: rs121918360
rs121918360
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C3280094
Disease:
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
C 0.800 CausalMutation CLINVAR
dbSNP: rs878853157
rs878853157
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C4310808
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs878853158
rs878853158
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C4310808
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
T 0.700 CausalMutation CLINVAR
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: rs121918360
rs121918360
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C3280094
Disease:
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
0.800 GeneticVariation UNIPROT A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. 18431404 2008
dbSNP: rs6885099
rs6885099
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement
A 0.800 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs6885099
rs6885099
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement
A 0.800 GeneticVariation GWASDB A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs6885099
rs6885099
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0441683
Disease:
Hormone measurement
A 0.700 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
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: 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: 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: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement
A 0.700 GeneticVariation GWASDB By genotyping 362,129 SNPs in 4,300 Sardinians, we identified a strong association (p = 1.3 x 10(-11)) between alleles of rs4704397 and circulating TSH levels; each additional copy of the minor A allele was associated with an increase of 0.13 muIU/ml in TSH. 18514160 2008
dbSNP: rs1479567
rs1479567
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0020676
Disease:
Hypothyroidism
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
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: 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: 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: rs1382879
rs1382879
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement
G 0.700 GeneticVariation GWASCAT Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. 25436638 2014
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: 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