Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.600 GeneticVariation CLINVAR Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. 29276005

2018
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.600 CausalMutation CLINVAR

Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in histone-modifying genes in congenital heart disease. 23665959

2013
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo mutations in histone-modifying genes in congenital heart disease. 23665959

2013
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR De novo mutations in histone-modifying genes in congenital heart disease. 23665959

2013
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. 15145825

2004
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. 15145825

2004
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. 15145825

2004
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR