Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8788
Gene Symbol: DLK1
DLK1
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.040 GeneticVariation BEFREE We identified three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. 30462238

2019
Entrez Id: 8788
Gene Symbol: DLK1
DLK1
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.040 Biomarker BEFREE However, in the last decade the number of idiopathic cases has diminished thanks to the discovery of mutations in different genes, including KISS1, KISS1R, MKRN3, and DLK1 that cause CPP. 30733078

2019
Entrez Id: 8788
Gene Symbol: DLK1
DLK1
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.040 GeneticVariation BEFREE We identified a genomic defect in DLK1 associated with isolated familial CPP. 28324015

2017
Entrez Id: 8788
Gene Symbol: DLK1
DLK1
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.040 GeneticVariation BEFREE This could be due to different inheritance patterns of families studied; (2) we expanded the phenotype of MKRN3 defects describing 3 more patients with MKRN3 mutations; and (3) point mutations in DLK1 and KCNK9 at least do not seem to be a common cause of CPP in girls. 28672280

2017