SOX6, SRY-box transcription factor 6, 55553

N. diseases: 105; N. variants: 46
Disease: Syringomyelia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		0.010 GeneticVariation disease BEFREE Global developmental delay, progressive relapsing-remitting parkinsonism, and spinal syrinx in a child with SOX6 mutation. 24453155 2014