PDE8B, phosphodiesterase 8B, 8622

N. diseases: 89; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280094
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 		0.700 GeneticVariation disease 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
CUI: C3280094
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. 18272904 2008
CUI: C3280094
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 		0.700 CausalMutation disease CLINVAR
CUI: C3280094
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 		0.700 Biomarker disease CTD_human
CUI: C1836694
Disease: Striatal Degeneration, Autosomal Dominant
Striatal Degeneration, Autosomal Dominant 		0.540 GeneticVariation disease BEFREE Within the 1714 patients, three PDE8B missense variants were identified that were unlikely to be the cause of the parkinsonism phenotype according to the functional prediction and mutation types reported in ADSD. 31726290 2019
CUI: C1836694
Disease: Striatal Degeneration, Autosomal Dominant
Striatal Degeneration, Autosomal Dominant 		0.540 GeneticVariation disease BEFREE Mutations in the phosphodiesterase 8B gene (PDE8B) were recently linked to autosomal-dominant striatal degeneration clinically presenting as slowly progressive parkinsonism. 29909144 2018
CUI: C1836694
Disease: Striatal Degeneration, Autosomal Dominant
Striatal Degeneration, Autosomal Dominant 		0.540 Biomarker disease BEFREE This family is the second family with autosomal-dominant striatal degeneration after the first German family, confirming that cyclic nucleotide phosphodiesterase 8B gene is the causative gene for this disease. 26769607 2015
CUI: C1836694
Disease: Striatal Degeneration, Autosomal Dominant
Striatal Degeneration, Autosomal Dominant 		0.540 AlteredExpression disease BEFREE We found that PDE8B is highly expressed in the brain, especially in the putamen, which is affected by ADSD. 20085714 2010
CUI: C1836694
Disease: Striatal Degeneration, Autosomal Dominant
Striatal Degeneration, Autosomal Dominant 		0.540 GermlineCausalMutation disease ORPHANET Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C1836694
Disease: Striatal Degeneration, Autosomal Dominant
Striatal Degeneration, Autosomal Dominant 		0.540 Biomarker disease CTD_human
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.420 GeneticVariation disease BEFREE Phosphodiesterase-11A (the PDE11A gene) and -8B (the PDE8B gene) mutations were found in patients with isolated adrenal hyperplasia and Cushing syndrome, as well in patients with PPNAD. 21115159 2010
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.420 GeneticVariation disease BEFREE Phosphodiesterase-11A (the PDE11A gene) and -8B (the PDE8B gene) mutations were found in patients with isolated adrenal hyperplasia and Cushing syndrome, as well in patients with PPNAD. 19063937 2009
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.420 Biomarker disease CTD_human Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. 18272904 2008
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.420 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.400 Biomarker disease CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.400 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.400 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.400 Biomarker phenotype HPO
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		0.300 Biomarker group CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders 		0.300 Biomarker group CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		0.300 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0231519
Disease: Gegenhalten
Gegenhalten 		0.300 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0233608
Disease: Catatonic Rigidity
Catatonic Rigidity 		0.300 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0239325
Disease: Extensor Rigidity
Extensor Rigidity 		0.300 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
CUI: C0240952
Disease: Dysarthria, Scanning
Dysarthria, Scanning 		0.300 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010