PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 Biomarker disease BEFREE Using the Pde6b <sup>rd10/rd10</sup> mouse model of RP, we investigated the effects of daily intraperitoneal administration of VP3.15, a small-molecule heterocyclic GSK-3 inhibitor. 29661219 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. 30153077 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE Mutations in PDE6A and the PDE6B genes lead to autosomal recessive (ar) forms of retinitis pigmentosa (RP) in human and to the homologous disease in dogs, designated generalised progressive retinal atrophy (gPRA). 10782214 2000
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE While Pde6b(rd1)/Pde6b(rd1) mice have severe photoreceptor degeneration, as in human RP, the H258N transgene rescued these cells. 17044014 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 Biomarker disease BEFREE In previous efforts to identify the genetic locus for prcd, the canine homologs for many of the genes causally associated with RP in humans, such as RHO, PDE6B, and RDS/peripherin, have been excluded. 9501213 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE The finding of a mutation in the beta subunit of the cyclic GMP (cGMP) phosphodiesterase gene causing retinal degeneration in mice (the Pdeb gene) prompted a search for disease-causing mutations in the human phosphodiesterase gene (PDEB gene) in patients with retinitis pigmentosa. 1329504 1992
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 Biomarker disease BEFREE In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the beta-subunit gene for cyclic GMP phosphodiesterase (PDE6B), and RDS/peripherin, were excluded. 10409424 1999
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE In particular, pharmacological activation of S1R was recently shown to rescue cones in the rd10 mouse, a rod Pde6b mutant that recapitulates the RP pathology of autonomous rod degeneration followed by secondary death of cones. 28927431 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE The homozygous PDE6B mutation causes retinitis pigmentosa. 24828262 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE THE FAMILY WAS FOUND TO SEGREGATE NOVEL MUTATIONS OF TWO DIFFERENT GENES: myosin VIIA (MYO7A), which causes type 1 Usher syndrome, and phosphodiesterase 6B, cyclic guanosine monophosphate-specific, rod, beta (PDE6B), which causes nonsyndromic RP. 23882135 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE Using the PCR-SSCP method, sequencing analysis, and restriction endonuclease digestion assay, we analyzed the PDEB gene in 17 Japanese families with non-dominant retinitis pigmentosa. 9543643 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease BEFREE We employed the rd10 mouse model (Pde6b <sup>rd10</sup> mutation) of retinitis pigmentosa (RP) to examine the involvement of BET proteins in retinal neurodegeneration. 28103888 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 Biomarker disease BEFREE Preclinical studies often rely on the retinal degeneration 1 (rd1 or Pde6b(rd1)) retinitis pigmentosa (RP) mouse model. 26283863 2015
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 GeneticVariation disease BEFREE Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM# 180072); a similar mutation was not found in RP patients. 17044014 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 GeneticVariation disease BEFREE While the RHO and PDE6B mutations result in constitutively active proteins, the only known adCSNB-associated GNAT1 change (p.Gly38Asp) produces an alpha-transducin that is unable to activate its downstream effector molecule in vitro. 17584859 2007
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group BEFREE We investigated the gene encoding the beta subunit of cGMP phosphodiesterase (PDE6B) as a candidate for generalized progressive retinal atrophy (gPRA), an autosomal recessively transmitted eye disease in dogs. 11124530 2000
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.110 GeneticVariation disease BEFREE Overall, phenotypic analysis revealed no substantial differences between the 2 groups except for night blindness as a presenting symptom that was noted to be more prevalent in the PDE6A than PDE6B group (80% vs 37%, respectively; P = .005). 30998820 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation group BEFREE A novel PDE6B founder variant is likely to account for 16% of recessive inherited retinal dystrophy in Māori. 28488341 2017
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.110 GeneticVariation disease BEFREE To compare genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B. 30998820 2019
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 Biomarker disease BEFREE The Pde6b(rd10) (rd10) mouse has a moderate rate of photoreceptor degeneration and serves as a valuable model for human autosomal recessive retinitis pigmentosa (RP). 20394059 2010
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 GeneticVariation disease BEFREE According to the data presented here, the PDEB gene is not the main gene responsible for ARRP, but accounts for about 5% of the cases. 7599633 1995
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 GeneticVariation disease BEFREE Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. 8595886 1995
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 GeneticVariation disease BEFREE Segregation analysis using these polymorphic sites excludes linkage of ARRP to the PDEB gene in a family with two affected children. 1329504 1992
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 Biomarker disease BEFREE Indeed, linkage analysis disclosed the cosegregation of the USH2 phenotype with the USH2C locus markers, D5S428 and D5S618, whereas the ARRP perfectly segregates with PDE6B flanking markers D4S3360 and D4S2930. 18854872 2009
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 GeneticVariation disease BEFREE We report the molecular analysis of the beta subunit of the rod phosphodiesterase (PDEB) gene in a consanguineous autosomal recessive retinitis pigmentosa family that shows homozygosity for polymorphisms in the genomic region comprising this gene, and positive linkage between a PDEB marker and the disease. 8557257 1996