rs104894927, RP2

N. diseases: 4
Disease: RETINITIS PIGMENTOSA 2 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RETINITIS PIGMENTOSA 2 (disorder)
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
0.720 GeneticVariation BEFREE A compound heterozygous mutation in the gene usherin 2A (USH2A; c.6,485+5G>A/c.11,156G>A) and a heterozygous X‑linked mutation in the gene retinitis pigmentosa 2 (RP2) ARL3 GTPase‑activating protein (RP2; c.358C>T) were identified by Sanger sequencing and co‑segregation analysis, of which the pathogenic mutation (c.6,485+5G>A) in USH2A has not been previously reported among Chinese patients. 30280194 2018
RETINITIS PIGMENTOSA 2 (disorder)
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
0.720 GeneticVariation BEFREE This was further validated by reduced levels of Kif7 at cilia tips detected in fibroblasts and induced pluripotent stem cell (iPSC) 3D optic cups derived from a patient carrying an RP2 nonsense mutation c.519C > T (p.R120X), which lack detectable RP2 protein. 28444310 2017
RETINITIS PIGMENTOSA 2 (disorder)
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
0.720 CausalMutation CLINVAR Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 15032968 2004
RETINITIS PIGMENTOSA 2 (disorder)
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
0.720 CausalMutation CLINVAR Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. 10090907 1999