KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 65; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 GeneticVariation disease CLINVAR
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 GeneticVariation disease CLINVAR
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.100 GeneticVariation group CLINVAR
CUI: C0349450
Disease: Soiling
Soiling 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.100 GeneticVariation disease CLINVAR
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 Biomarker phenotype HPO
CUI: C1696701
Disease: Skin-picking
Skin-picking 		0.100 Biomarker disease HPO
CUI: C1696701
Disease: Skin-picking
Skin-picking 		0.100 GeneticVariation disease CLINVAR
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 Biomarker phenotype HPO
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 Biomarker phenotype HPO