TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 Biomarker disease BEFREE Furthermore, depression of tyrosine hydroxylase, the key enzyme of melanine synthesis, could be the basis for the pathognomotic 'café au lait' spots of FA. 11948424 2002