Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 Biomarker group BEFREE A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. 26373900 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE The current study demonstrates that STRA6 mutations can cause isolated eye malformations in addition to the congenital anomalies observed in MWS. 21901792 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE All STRA6 mutants associated with severe birth defects have largely abolished vitamin A uptake activity, consistent with the severe clinical phenotypes. 18387951 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE In humans, mutations in STRA6 are associated with Matthew-Wood syndrome, manifested by multisystem developmental malformations. 18316031 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group. 17273977 2007