ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
|
24031089 |
2013 |
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
|
24031089 |
2013 |
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
|
24031089 |
2013 |
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.
|
16344554 |
2006 |
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Arthrogryposis
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Previously reported patients with SLC35A3-CDG have been described with syndromic autism, epilepsy, and arthrogryposis.
|
28777481 |
2017 |
Arthrogryposis
|
0.120 |
GeneticVariation
|
disease |
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 |
Arthrogryposis
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Glioma
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
|
19578366 |
2009 |
Central Nervous System Neoplasms
|
0.100 |
GeneticVariation
|
group |
GWASDB |
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
|
19578366 |
2009 |
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Mild Mental Retardation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Moderate intellectual disability
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Scoliosis, unspecified
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Severe intellectual disability
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Autistic behavior
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hammer Toe
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hip Dysplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microretrognathia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual Disability
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Absence Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|