Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 154288
Gene Symbol: KHDC3L
KHDC3L
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.020 GeneticVariation BEFREE In this study, we have screened NLRP7 and KHDC3L mutations in five patients with recurrent moles and five with sporadic moles. 31220306

2019
Entrez Id: 154288
Gene Symbol: KHDC3L
KHDC3L
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.020 GeneticVariation BEFREE However, it is unknown if correct parental origin of every imprinted gene is crucial for normal early differentiation or if abnormal parental imprinting of only one, or some, gene(s) can cause the mole phenotype.Two conceptuses included in the Danish Mole Project stood out since they presented with vesicular chorionic villi and without signs of fetal differentiation, and had apparently biparental diploid genomes, and no mutations in NLRP7 or KHDC3L were detected in the mothers. 26554776

2015