DDI1, DNA damage inducible 1 homolog 1, 414301

N. diseases: 4; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 Biomarker disease BEFREE The proteasome receptor DDI1 has been identified both in <i>Drosophila</i> photoreceptor neurons and in human neuroblastoma cells in culture as a direct substrate of UBE3A. 31130875 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 Biomarker disease BEFREE The proteasome receptor DDI1 has been identified both in <i>Drosophila</i> photoreceptor neurons and in human neuroblastoma cells in culture as a direct substrate of UBE3A. 31130875 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 Biomarker disease BEFREE The proteasome receptor DDI1 has been identified both in <i>Drosophila</i> photoreceptor neurons and in human neuroblastoma cells in culture as a direct substrate of UBE3A. 31130875 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
0.010 Biomarker disease BEFREE The novel observation that DDI1 is expressed in the developing mice brain, with a significant peak at E16.5, strongly suggests that DDI1 has biological functions not yet described that could be of relevance for Angelman syndrome clinical research. 29788202 2018