GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.130 GeneticVariation disease BEFREE Mutations in GDF6 have been associated with abnormal eye development that may result in microphthalmia and anophthalmia. 22049084 2012
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.130 GeneticVariation disease BEFREE Mutation analysis of the GDF6 gene in 200 patients with microphthalmia revealed amino acid substitutions in four of them. 21070663 2010
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.130 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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.130 Biomarker disease HPO