Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE To determine the minimal findings associated with STRA6 mutations, we performed mutation analysis of the STRA6 gene in 28 cases with anophthalmia. 22686418 2013
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. 23591992 2013
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. 21901792 2011
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. 19309693 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 Biomarker disease BEFREE We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. 19839040 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 19112531 2008
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 Biomarker disease LHGDN Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 19112531 2008
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease LHGDN Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 GeneticVariation disease BEFREE Five other fetuses presenting at least one of the two major signs of clinical anophthalmia or pulmonary hypoplasia with at least one of the two associated signs of diaphragmatic closure defect or cardiopathy had no STRA6 mutations. 17503335 2007
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 Biomarker disease CTD_human Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 Biomarker disease HPO