Disease: MICROPHTHALMIA, ISOLATED 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 Biomarker disease GENOMICS_ENGLAND Silencing of HIF-1α enhances the radiation sensitivity of human glioma growth in vitro and in vivo. 24859610 2015
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. 24024553 2014
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. 24568872 2014
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 Biomarker disease GENOMICS_ENGLAND The genetic architecture of microphthalmia, anophthalmia and coloboma. 24859618 2014
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. 23881059 2014
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. 24777706 2014
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT Mutations in ALDH1A3 cause microphthalmia. 23646827 2013
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. 23591992 2013
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 GeneticVariation disease UNIPROT ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 23312594 2013
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 Biomarker disease GENOMICS_ENGLAND National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 11826019 2002
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 CausalMutation disease CLINVAR
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 Biomarker disease CTD_human