SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776961
rs587776961
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
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
dbSNP: rs587777436
rs587777436
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
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
dbSNP: rs587777436
rs587777436
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
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
dbSNP: rs587776961
rs587776961
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation
0.800 GeneticVariation UNIPROT
dbSNP: rs587777436
rs587777436
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation
A 0.800 CausalMutation CLINVAR
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C4280803
Disease:
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
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1844806
Disease:
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
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0860609
Disease:
Inappropriate crying
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0014877
Disease:
Esotropia
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C4048268
Disease:
Cortical visual impairment
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C4022735
Disease:
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
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3887898
Disease:
Infantile Spasm
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1839972
Disease:
Increased IgM level
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0428282
Disease:
Serum creatinine low
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0580316
Disease:
Neutrophil count abnormal
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0557874
Disease:
Global developmental delay
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0580550
Disease:
Lymphocyte count abnormal
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1839758
Disease:
Narrow forehead
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1857644
Disease:
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
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1860130
Disease:
Low alkaline phosphatase
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1838705
Disease:
Anteriorly placed anus
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0853697
Disease:
Neutrophil count decreased
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1855728
Disease:
Low posterior hairline
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0342546
Disease:
Premature adrenarche
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019