Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35528310
rs35528310
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 29160022 2018
dbSNP: rs1554879633
rs1554879633
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 29160022 2018
dbSNP: rs749848324
rs749848324
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 29160022 2018
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A structured assessment of motor function and behavior in patients with Kleefstra syndrome. 26808425 2016
dbSNP: rs1554879633
rs1554879633
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR A structured assessment of motor function and behavior in patients with Kleefstra syndrome. 26808425 2016
dbSNP: rs749848324
rs749848324
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A structured assessment of motor function and behavior in patients with Kleefstra syndrome. 26808425 2016
dbSNP: rs797045043
rs797045043
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs886037776
rs886037776
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 27651234 2016
dbSNP: rs886037776
rs886037776
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1510586
Disease:
Autism Spectrum Disorders 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 27651234 2016
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR If not Angelman, what is it? A review of Angelman-like syndromes. 24779060 2014
dbSNP: rs1554879633
rs1554879633
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR If not Angelman, what is it? A review of Angelman-like syndromes. 24779060 2014
dbSNP: rs749848324
rs749848324
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR If not Angelman, what is it? A review of Angelman-like syndromes. 24779060 2014
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Update on Kleefstra Syndrome. 22670141 2012
dbSNP: rs1554879633
rs1554879633
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
dbSNP: rs1554879633
rs1554879633
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Update on Kleefstra Syndrome. 22670141 2012
dbSNP: rs749848324
rs749848324
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
dbSNP: rs749848324
rs749848324
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Update on Kleefstra Syndrome. 22670141 2012
dbSNP: rs786205129
rs786205129
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR Update on Kleefstra Syndrome. 22670141 2012
dbSNP: rs137852714
rs137852714
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 19264732 2009
dbSNP: rs137852716
rs137852716
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		G 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 19264732 2009
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 19264732 2009
dbSNP: rs1554879633
rs1554879633
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 19264732 2009
dbSNP: rs749848324
rs749848324
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 19264732 2009