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: rs1443492116
rs1443492116
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE In this study, single nucleotide polymorphisms, P24T and L48V, of the UGT1A4 enzyme have been investigated in a Turkish population of patients with epilepsy (n=131) by comparing serum levels of LTG of wild type and polymorphic subjects. 21601426 2011
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
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0684276
Disease:
Hypsarrhythmia 		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: C0085702
Disease:
Monocytosis 		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: C0431928
Disease:
Congenital overgrowth of lower limb 		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: C0038379
Disease:
Strabismus 		A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019