Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 123
Gene Symbol: PLIN2
PLIN2
0.020 GeneticVariation disease LHGDN Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). 18188946 2008
Entrez Id: 123
Gene Symbol: PLIN2
PLIN2
0.020 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