rs587776961
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
|
23561849 |
2013 |
rs587777436
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
|
23561849 |
2013 |
rs587777436
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
|
24115232 |
2013 |
rs587776961
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs587777436
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Decreased CSF homovanillic acid
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Muscle hypotonia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Weight less than 3rd percentile
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Inappropriate crying
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Esotropia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Cortical visual impairment
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Cerebral white matter atrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Infantile Spasm
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Increased IgM level
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Serum creatinine low
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Neutrophil count abnormal
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Global developmental delay
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Lymphocyte count abnormal
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Narrow forehead
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Retinal pigment epithelial mottling
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Low alkaline phosphatase
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Anteriorly placed anus
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Neutrophil count decreased
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Low posterior hairline
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1557043622
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
Premature adrenarche
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |