GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.020 GeneticVariation disease BEFREE Mutations in GDF6 have been associated with abnormal eye development that may result in microphthalmia and anophthalmia. 22049084 2012
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.020 Biomarker disease LHGDN The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development. 17236135 2007
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.020 Biomarker disease BEFREE The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development. 17236135 2007