FRMD7, FERM domain containing 7, 90167

N. diseases: 31; N. variants: 13
Disease: Achromatopsia 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.010 GeneticVariation disease BEFREE Analysis of specific diseases, such as albinism and achromatopsia as well as known genetic abnormalities, such as FRMD7 and PAX6 mutations, shows subtle but significant differences between nystagmus subtypes using eye movement recordings. 21951007 2011