Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE This study expands the molecular spectrum of pathogenic ALDH1A3 variants associated with anophthalmia and microphthalmia, and provides further insight of the key role of the ALDH1A3 in human eye development. 30200890 2018
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE Very recently, homozygous variations within ALDH1A3 have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay/autism spectrum disorder in eight families. 24024553 2014
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. 23881059 2014
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. 24777706 2014
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. 24568872 2014
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 Biomarker disease BEFREE Our data support the very recent and independent identification of ALDH1A3 as a disease gene in microphthalmia. 23646827 2013
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 23312594 2013
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 GeneticVariation disease BEFREE ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. 23591992 2013
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.180 Biomarker disease HPO