PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Moreover, heterozygous mutations in ROM1 on 11q13, in combination with heterozygous mutations in RDS on 6p21.1-cen, cause digenic RP (the two-locus mechanism). 11559856 2001
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 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 		0.200 GeneticVariation disease BEFREE These 3 RDS gene mutations appear to be polypeptide polymorphisms not related to adRP. 10077725 1999
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system. 10193525 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP. 10627133 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE The authors found mutations in the RDS gene as a cause of dominant or digenic RP and mutations in the ROM1 gene as a cause of digenic RP. 9331261 1997
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop). 7825692 1995
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. 7862413 1995
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease BEFREE Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). 8202715 1994
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE A mutation in codon 216 of the peripherin/rds gene, resulting in a substitution of the amino acid serine for proline, was found to segregate with retinitis pigmentosa in these two families. 8058286 1994
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. 8045710 1994
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 8485576 1993
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease CLINVAR Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 8449524 1993
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease BEFREE The genes encoding two retinal specific proteins, rhodopsin and peripherin/RDS, have been implicated in causing adRP due to the observation of many different mutations in these genes in patients suffering from RP. 8364569 1993
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE This information is of potential value for testing linkage of the RDS gene to the disease phenotype in families with retinitis pigmentosa. 1679750 1991
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 GeneticVariation disease BEFREE A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 1749427 1991
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease HPO