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 |
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 |
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 |
MICROPHTHALMIA, ISOLATED 8
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetic architecture of microphthalmia, anophthalmia and coloboma.
|
24859618 |
2014 |
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 |
MICROPHTHALMIA, ISOLATED 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
24777706 |
2014 |
MICROPHTHALMIA, ISOLATED 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ALDH1A3 cause microphthalmia.
|
23646827 |
2013 |
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 |
MICROPHTHALMIA, ISOLATED 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
|
23312594 |
2013 |
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 |
MICROPHTHALMIA, ISOLATED 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MICROPHTHALMIA, ISOLATED 8
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
MICROPHTHALMIA, ISOLATED 1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
|
23312594 |
2013 |
Microphthalmos, Autosomal Recessive
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
|
23312594 |
2013 |
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 |
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 |
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 |
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 |
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 |
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 |
Microphthalmos
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
24777706 |
2014 |
Microphthalmos
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
|
24568872 |
2014 |
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 |