Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 GeneticVariation disease BEFREE GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. 30185102 2018
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 GeneticVariation disease CLINVAR GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. 27232954 2016
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 GeneticVariation disease BEFREE These cases expanded the clinical and genetic spectrum of the ultra-rare disease, GM3 synthase deficiency with ST3GAL5 variants. 27232954 2016
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. 24026681 2014
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 CausalMutation disease CLINVAR Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. 22990144 2013
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 CausalMutation disease CLINVAR Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. 23436467 2013
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 GeneticVariation disease CLINVAR Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. 22990144 2013
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 CausalMutation disease CLINVAR Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 15502825 2004
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 GeneticVariation disease CLINVAR Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 15502825 2004
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 GermlineCausalMutation disease ORPHANET Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 15502825 2004
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 15502825 2004
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		0.720 Biomarker disease CTD_human
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group BEFREE ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. 30185102 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE Mutations in ST3GAL5 (coding GM3 synthase) were discovered as the basis for severe congenital infantile seizures, whereas mutations in B4GALNT1 (coding GM2/GD2 synthase) are the basis of hereditary spastic paraplegia accompanied by intellectual disability. 29747824 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.110 Biomarker disease BEFREE ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. 30185102 2018
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.110 Biomarker disease HPO
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.100 Biomarker disease HPO