LOXL3, lysyl oxidase like 3, 84695

N. diseases: 46; N. variants: 8
Disease: Uranostaphyloschisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 GeneticVariation disease BEFREE The identification in lysyl oxidase like 3 of a missense variant which under a recessive model associates with 10-fold increased risk of non-syndromic cleft palate supports the hypothesis that the genetic etiology of this congenital anomaly includes relatively uncommon recessive variants with moderate penetrance and located in genes which are also involved in syndromes that include cleft palate as part of the phenotype. 29802726 2018