rs1557043622, SLC35A2

N. diseases: 46
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Decreased peristalsis
CUI: C0232475
Disease: Decreased peristalsis
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Increased serum testosterone level
CUI: C4072885
Disease: Increased serum testosterone level
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Sleep Apnea, Central
CUI: C0520680
Disease: Sleep Apnea, Central
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
MCV - raised
CUI: C0302845
Disease: MCV - raised
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Constipation
CUI: C0009806
Disease: Constipation
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Hematocrit increased
CUI: C0239935
Disease: Hematocrit increased
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Solute carrier family 35 member A2 congenital disorder of glycosylation
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Blue sclera
CUI: C0542514
Disease: Blue sclera
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Pyloric Stenosis
CUI: C0034194
Disease: Pyloric Stenosis
0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019