KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554580083
rs1554580083
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
A 0.700 GeneticVariation CLINVAR Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
dbSNP: rs779659766
rs779659766
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
C 0.700 GeneticVariation CLINVAR Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
dbSNP: rs587777073
rs587777073
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
A 0.700 GeneticVariation CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
dbSNP: rs1554477105
rs1554477105
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0566899
Disease:
Small labia majora
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0003803
Disease:
Arnold Chiari Malformation
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4021805
Disease:
Abnormality of the nasal bridge
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0020534
Disease:
Orbital separation excessive
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C1697450
Disease:
obsolete Prominent epicanthal folds
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C1837218
Disease:
Cleft palate, isolated
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554496813
rs1554496813
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C1849340
Disease:
Long palpebral fissure
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554505381
rs1554505381
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554580083
rs1554580083
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1563831738
rs1563831738
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C1843367
Disease:
Poor school performance
C 0.700 CausalMutation CLINVAR
dbSNP: rs587777073
rs587777073
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs779659766
rs779659766
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C4540395
Disease:
KLEEFSTRA SYNDROME 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs4725443
rs4725443
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0007107
Disease:
Malignant neoplasm of larynx
0.010 GeneticVariation BEFREE We also found that MLL3 rs6943984 and rs4725443 polymorphisms had synergistic effects with smoking or alcohol drinking for the risk of laryngeal cancer. 26818916 2016
dbSNP: rs4725443
rs4725443
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE We also found that MLL3 rs6943984 and rs4725443 polymorphisms had synergistic effects with smoking or alcohol drinking for the risk of laryngeal cancer. 26818916 2016
dbSNP: rs6464211
rs6464211
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0007107
Disease:
Malignant neoplasm of larynx
0.010 GeneticVariation BEFREE Four polymorphisms of the MLL3 gene (rs6943984, rs4725443, rs3800836, rs6464211) were genotyped using the TaqMan method in 592 patients with larynx cancer and 602 age- and sex-matched noncancer controls. 26818916 2016
dbSNP: rs6943984
rs6943984
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0007107
Disease:
Malignant neoplasm of larynx
0.010 GeneticVariation BEFREE We also found that MLL3 rs6943984 and rs4725443 polymorphisms had synergistic effects with smoking or alcohol drinking for the risk of laryngeal cancer. 26818916 2016
dbSNP: rs6943984
rs6943984
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE We also found that MLL3 rs6943984 and rs4725443 polymorphisms had synergistic effects with smoking or alcohol drinking for the risk of laryngeal cancer. 26818916 2016
dbSNP: rs6464211
rs6464211
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE The strongest association with CRC risk and survival was found for MLL3 (rs6464211, OR 1.50, p = 0.002, dominant model; HR 2.12, p = 0.020, recessive model). 24706189 2014
dbSNP: rs74483926
rs74483926
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE A missense mutation (S3660L) in MLL3 gene influences risk of gastric cancer. 24965397 2014
dbSNP: rs74483926
rs74483926
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE A missense mutation (S3660L) in MLL3 gene influences risk of gastric cancer. 24965397 2014