PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 GeneticVariation disease BEFREE In this report, we highlight that pediatric cone-rod dystrophy with high myopia and nystagmus suggests recessive mutations in the gene PROM1. 24547909 2015
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.110 Biomarker disease HPO