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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease CLINVAR
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
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