Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. 28777481 2017
CUI: C0302142
Disease: Deformity
Deformity 		0.020 GeneticVariation group BEFREE Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. 28777481 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Spontaneous mutation in SLC35A3 has been discovered in cattle worldwide, recapitulating the human phenotype with arthrogryposis and additional skeletal defects known as Complex Vertebral Malformation syndrome. 24031089 2013
CUI: C0302142
Disease: Deformity
Deformity 		0.020 GeneticVariation group BEFREE Spontaneous mutation in SLC35A3 has been discovered in cattle worldwide, recapitulating the human phenotype with arthrogryposis and additional skeletal defects known as Complex Vertebral Malformation syndrome. 24031089 2013
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.010 GeneticVariation group BEFREE "Step-by-step" diagnosis pathways of four particular and new CDG cases, including MGAT2-CDG, ATP6V0A2-CDG, SLC35A2-CDG, and SLC35A3-CDG, are described as illustrative examples. 29869806 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE Previously reported patients with SLC35A3-CDG have been described with syndromic autism, epilepsy, and arthrogryposis. 28777481 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE With this study, we add SLC35A3 to the gene list of epilepsies. 28328131 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.010 GeneticVariation group BEFREE Congenital disorders of glycosylation, including SLC35A3-CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia. 28777481 2017
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.010 Biomarker disease BEFREE Here, we report the first case in humans of SLC35A3-related vertebral anomalies. 28777481 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.010 GeneticVariation disease BEFREE Congenital disorders of glycosylation, including SLC35A3-CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia. 28777481 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.010 GeneticVariation disease BEFREE Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. 28328131 2017
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 GeneticVariation group BEFREE Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089 2013