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
CUI: C0025202
Disease: melanoma
melanoma
0.310 Biomarker disease CTD_human Gene expression analysis using pre-treatment tumor samples supports high ALDH1A3 expression before BRAF/MEK inhibitor treatment as predictive of better treatment response in BRAF-mutant melanoma patients. 31580832 2019
CUI: C0025202
Disease: melanoma
melanoma
0.310 AlteredExpression disease BEFREE Gene expression analysis using pre-treatment tumor samples supports high ALDH1A3 expression before BRAF/MEK inhibitor treatment as predictive of better treatment response in BRAF-mutant melanoma patients. 31580832 2019
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1
0.300 GermlineCausalMutation disease ORPHANET ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 23312594 2013
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive
0.300 GermlineCausalMutation disease ORPHANET ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 23312594 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.300 Biomarker disease CTD_human Methylation status of the 32 randomly selected and 16 potential tumor-related genes was analyzed in 10 primary gastric cancers, and 42 genes (ABHD9, ADFP, ALDH1A3, ANXA5, AREG, BDNF, BMP7, CAV1, CDH2, CLDN3, CTSL, EEF1A2, F2R, FADS1, FSD1, FST, FYN, GPR54, GREM1, IGFBP3, IGFBP7, IRS2, KISS1, MARK1, MLF1, MSX1, MTSS1, NT5E, PAX6, PLAGL1, PLAU, PPIC, RBP4, RORA, SCRN1, TBX3, TFAP2C, TNFSF9, ULBP2, WIF1, ZNF177 and ZNF559) were methylated in at least one primary gastric cancer. 16367923 2006
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.300 Biomarker group CTD_human Chemical genomic screening for methylation-silenced genes in gastric cancer cell lines using 5-aza-2'-deoxycytidine treatment and oligonucleotide microarray. 16367923 2006
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
0.300 Biomarker disease CTD_human Chemical genomic screening for methylation-silenced genes in gastric cancer cell lines using 5-aza-2'-deoxycytidine treatment and oligonucleotide microarray. 16367923 2006
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.180 GeneticVariation disease BEFREE A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. 23881059 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.180 GeneticVariation disease BEFREE Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. 24777706 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.180 GeneticVariation disease BEFREE Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. 24568872 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.180 Biomarker disease BEFREE Our data support the very recent and independent identification of ALDH1A3 as a disease gene in microphthalmia. 23646827 2013