HES1, hes family bHLH transcription factor 1, 3280

N. diseases: 243; N. variants: 0
Disease: Optic Atrophy 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 Biomarker disease BEFREE PCR amplification of this part of exon 2 in four of the pedigrees affected by autosomal dominant optic atrophy mapping to chromosome 3q, followed by haplotype analysis, showed recombination between HRY and OPA1 in one pedigree. 9745030 1998