Gene: KMT2D ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.020 GeneticVariation disease BEFREE Recently, the first two cases with alobar holoprosencephaly and mutations in KMT2D have been reported in the medical literature. 31846209 2020
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.020 GeneticVariation disease BEFREE Here we report two patients diagnosed with alobar holoprosencephaly in their antenatal period with de novo monoallelic KMT2D variants identified by trio-based exome sequencing. 31282990 2019