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: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.070 GeneticVariation disease BEFREE Missense mutations of the PDEB gene causing arRP have been reported in a limited region (codon 527-codon 699) in which codon 535 is located. 9543643 1998
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 GeneticVariation disease BEFREE Here, we review the history of research on the retinal degeneration (rd) mutant mouse, which carries a genetic mutation of PDE6b, and we also highlight recent research in photoreceptor degeneration using zebrafish models. 28812418 2017
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 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: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 Biomarker disease BEFREE Pde6b knockout rats exhibited visible photoreceptor degeneration at 3 weeks of postnatal age. 31009522 2019
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 GeneticVariation disease BEFREE PARP inhibition protects photoreceptors via regulation of the EVs activity in rod photoreceptor degeneration in a PDE6b mutation. 30842506 2019
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 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: C0041296
Disease: Tuberculosis
Tuberculosis 		0.020 Biomarker disease BEFREE Recognition of the Rv0222 was compared with the 38 kDa protein and a fusion protein of the RD1 proteins ESAT-6 and CFP10 in a serum panel from pulmonary tuberculosis (TB) patients from Uganda. 18243798 2008
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.020 Biomarker disease BEFREE Region of difference (RD1) genes are present in virulent Mycobacterium tuberculosis but not the vaccine strain M. bovis bacille Calmette-Guérin (BCG). 15195251 2004
CUI: C0521691
Disease: Generalized progressive retinal atrophy
Generalized progressive retinal atrophy 		0.020 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: C0521691
Disease: Generalized progressive retinal atrophy
Generalized progressive retinal atrophy 		0.020 GeneticVariation disease BEFREE Therefore, the PDE6B sequence variations did not segregate together with the mutation(s) causing gPRA. 11124530 2000
CUI: C0002136
Disease: Allogenic disease
Allogenic disease 		0.010 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Thus, TCRs such as RD1, generated <i>de novo</i> against cancer antigens, can serve as an alternative to TCRs generated from T-cell clones. 31548259 2019
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 Biomarker disease BEFREE Recognition of the Rv0222 was compared with the 38 kDa protein and a fusion protein of the RD1 proteins ESAT-6 and CFP10 in a serum panel from pulmonary tuberculosis (TB) patients from Uganda. 18243798 2008
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 Biomarker phenotype BEFREE The efficacy of these novel serotypes were assessed in wild type mice and in two models of retinal degeneration (the Abca4(-/-) mouse which is a model for Stargardt disease and in the Pde6b(rd1/rd1) mouse) in vivo, in primate tissue ex-vivo, and in the human-derived SH-SY5Y cell line, using an identical AAV2 expression cassette. 23593201 2013
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075 1996
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.010 GeneticVariation disease BEFREE Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. 1338765 1992
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 GeneticVariation disease BEFREE Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS. 31639430 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Thus, TCRs such as RD1, generated <i>de novo</i> against cancer antigens, can serve as an alternative to TCRs generated from T-cell clones. 31548259 2019
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation disease BEFREE However, no DNA changes in the PDEB gene have been identified in our study population which could be causative for the LCA phenotype. 1338765 1992
CUI: C3161220
Disease: Tuberculin (skin test) positive
Tuberculin (skin test) positive 		0.010 AlteredExpression disease BEFREE Concerning the IFN-γ response to PstS-1(285-374):CFP10 in the 22-h and 5-day assays, a slight increase in contact-TST(positive) detection was observed (23/54 and 26/54) compared to the level seen with the RD1 protein (18/54 and 24/54) whereas in the TST(negative) group, similarly lower numbers (≤5/48) of responders were achieved for both antigens, except for RD1 in the 5-day assay (8/48). 24521785 2014
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		0.010 GeneticVariation disease BEFREE Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 8075643 1994
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation disease CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015