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: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C4317146
Disease:
Acid reflux 		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: C0542514
Disease:
Blue sclera 		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: C0240635
Disease:
Byzanthine arch palate 		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: C0742028
Disease:
Cerebellar vermis 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: 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: 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: C0009806
Disease:
Constipation 		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: 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: C0232475
Disease:
Decreased peristalsis 		A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. 25877686 2015
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849 2013
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 24115232 2013
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family. 9010752 1996
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. 25778940 2015
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Novel genetic causes for cerebral visual impairment. 26350515 2016
dbSNP: rs1557042808
rs1557042808
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator. 8889805 1996
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: rs1057519000
rs1057519000
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0543888
Disease:
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR
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: C1836923
Disease:
Gastrointestinal dysmotility 		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