Disease: KLEEFSTRA SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE The microdeletions cause Kleefstra syndrome (KS), whose responsible gene is EHMT1. 31209758 2019
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease BEFREE Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS. 31666522 2019
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Kleefstra syndrome is a rare neurogenetic disorder caused by a subtelomeric 9q34.3 deletion or by an intragenic mutation of the euchromatin histone methyl transferase 1 gene (EHMT1). 31750954 2019
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. 30448833 2018
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. 29554304 2018
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Most of the EHMT1 mutations are frameshift or nonsense mutations, but two individuals with KS were reported to possess EHMT1 missense mutations. 29459631 2018
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 PosttranslationalModification disease BEFREE Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. 29554304 2018
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. 28071689 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE This is the first report to suggest that missense variants in EHMT1 that lead to protein misfolding and disrupted histone mark binding can lead to KS. 28057753 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified. 28742076 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Exome sequencing identified a novel, de novo splice site variant NM_024757.4: c.2750-1G>T in EHMT1, a candidate gene for Kleefstra syndrome, in the patient that results in exon skipping and downstream frameshift and termination. 28361099 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified. 28742076 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (<i>EHMT1,</i> GLP). 28361100 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease BEFREE Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (<i>EHMT1,</i> GLP). 28361100 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN The novel mutation detected in the EHMT1 gene is responsible for KS's symptoms. 27651234 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 CausalMutation disease CLINVAR The novel mutation detected in the EHMT1 gene is responsible for KS's symptoms. 27651234 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN These data suggest that the developmental impairments observed in EHMT1-deficient networks may result in a temporal misalignment between activity-dependent developmental processes thereby contributing to the pathophysiology of Kleefstra syndrome. 27767173 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE The novel mutation detected in the EHMT1 gene is responsible for KS's symptoms. 27651234 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE These data suggest that the developmental impairments observed in EHMT1-deficient networks may result in a temporal misalignment between activity-dependent developmental processes thereby contributing to the pathophysiology of Kleefstra syndrome. 27767173 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance. 27789404 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. 25081361 2015
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease CLINGEN Lastly, we found that Ehmt1(+/-) mice showed brachycephalic crania, a shorter or bent nose, and hypertelorism, reminiscent of the craniofacial dysmorphisms seen in KS. 24362066 2014
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 GeneticVariation disease BEFREE A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. 23232695 2013
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		1.000 Biomarker disease MGD These data demonstrate that Ehmt1 haploinsufficiency in mice leads to learning deficits and synaptic dysfunction, providing a possible mechanism for the ID phenotype in patients with KS. 23175442 2013