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: rs1057518719
rs1057518719
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519000
rs1057519000
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0543888
Disease:
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR
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: rs1557041672
rs1557041672
Entrez Id: 7355;10084
Gene Symbol: SLC35A2;PQBP1
SLC35A2;PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		T 0.700 CausalMutation CLINVAR The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 20950397 2011
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: rs1557042824
rs1557042824
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1557043131
rs1557043131
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation 		C 0.700 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