Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE It also indicates that heterozygous STRA6 mutations may rarely contribute to microphthalmia and coloboma. 22283518 2013
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. 22686418 2013
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 Biomarker disease CTD_human These fatal consequences of Stra6 deficiency, including craniofacial and cardiac defects and microphthalmia, were largely alleviated by reducing embryonic Rbp4 levels by morpholino oligonucleotide or pharmacological treatments. 18316031 2008
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 19112531 2008
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 Biomarker disease BEFREE Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. 17503335 2007
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 Biomarker disease HPO