PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 GeneticVariation disease BEFREE Crosses of white-spotted mice showed that homozygosity for the mutation caused tail and limb abnormalities and embryonic lethality as a result of exencephaly; these phenotypes were analogous to those found in other Pax3 mutants. 28381738 2017
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Biomarker disease CTD_human Oxidant regulation of gene expression and neural tube development: Insights gained from diabetic pregnancy on molecular causes of neural tube defects. 12739027 2003
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Therapeutic disease CTD_human Oxidant regulation of gene expression and neural tube development: Insights gained from diabetic pregnancy on molecular causes of neural tube defects. 12739027 2003
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Biomarker disease CTD_human If arsenite produces exencephaly by inactivating the Pax3 protein, then the fact that the exencephaly rate was increased in Sp/Sp embryos with no functional Pax3 indicates that arsenite may either induce this defect through additional pathways, or may alter the response via modifier genes. 12854658 2003
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Therapeutic disease CTD_human If arsenite produces exencephaly by inactivating the Pax3 protein, then the fact that the exencephaly rate was increased in Sp/Sp embryos with no functional Pax3 indicates that arsenite may either induce this defect through additional pathways, or may alter the response via modifier genes. 12854658 2003
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Therapeutic disease CTD_human Histological comparison of the effects of the splotch gene and retinoic acid on the closure of the mouse neural tube. 3293260 1988
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Biomarker disease CTD_human Histological comparison of the effects of the splotch gene and retinoic acid on the closure of the mouse neural tube. 3293260 1988