KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.400 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.350 GeneticVariation disease UNIPROT
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 GeneticVariation disease CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		0.100 GeneticVariation disease CLINVAR
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 GeneticVariation disease CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		0.100 Biomarker phenotype HPO
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 Biomarker phenotype HPO
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		0.100 GeneticVariation disease CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Cancer-associated mutations in the sequence encoding the MLL3 PHD repeats disrupt the interaction between MLL3 and BAP1 and correlate with poor patient survival. 29785026 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE Cancer-associated mutations in the sequence encoding the MLL3 PHD repeats disrupt the interaction between MLL3 and BAP1 and correlate with poor patient survival. 29785026 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE MLL3, which has already been implicated in cancer, had the highest mutation frequency in MSI-H cancers (48%). 20824714 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE MLL3, which has already been implicated in cancer, had the highest mutation frequency in MSI-H cancers (48%). 20824714 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE MLL3 and MLL4 are frequently mutated in cancer, and indeed, the widely used HCT116 cancer cell line contains inactivating mutations in the MLL3 gene. 24081332 2013