Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. 26373900 2016
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 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: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 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: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE Recessive mutations in STRA6, encoding a membrane receptor for the retinol-binding protein, have been identified in some cases with PDAC syndrome, although many cases have remained unexplained. 24075189 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. 19839040 2009
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE Mutations in FRAS1 and FREM2 occur in FS, and mutations in STRA6 occur in MCOPS9. 22283518 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 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: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE In humans, mutations in STRA6 are associated with Matthew-Wood syndrome, manifested by multisystem developmental malformations. 18316031 2008
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792 2011
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 GeneticVariation disease BEFREE Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. 28398665 2017
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 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 Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 19112531 2008
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 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 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 BEFREE We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. 19839040 2009
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 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 GeneticVariation disease BEFREE Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. 22686418 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group 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: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 GeneticVariation group 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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.110 Biomarker phenotype 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