SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 12 0.730 None 1.000 6 12 2013 2019
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		phenotype Finding 1 1 0.100 None 1.000 1 1 2019 2019
CUI: C4022943
Disease: Decreased galactosylation of N-linked protein glycosylation
Decreased galactosylation of N-linked protein glycosylation 		phenotype Finding 1 0.100 None 0
CUI: C4024638
Disease: Transient nephrotic syndrome
Transient nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4476572
Disease: Elevated brain N-acetyl aspartate level by MRS
Elevated brain N-acetyl aspartate level by MRS 		phenotype Finding 1 0.100 None 0
CUI: C4476805
Disease: Increased circulating thyroglobulin level
Increased circulating thyroglobulin level 		phenotype Finding 1 0.100 None 0
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		phenotype Finding 2 1 0.100 None 1.000 1 1 2019 2019
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		phenotype Finding 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C0234650
Disease: Ocular flutter
Ocular flutter 		phenotype Finding 2 0.100 None 0
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		phenotype Finding 2 1 0.100 None 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C4022928
Disease: Decreased sialylation of O-linked protein glycosylation
Decreased sialylation of O-linked protein glycosylation 		phenotype Finding 2 0.100 None 0
CUI: C4021902
Disease: Short corpus callosum
Short corpus callosum 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		phenotype Finding 4 2 0.100 None 1.000 1 1 2019 2019
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype Finding 4 5 0.100 None 1.000 1 1 2019 2019
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.010 None 1.000 1 2017 2017
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		phenotype Finding 4 7 0.100 None 1.000 1 1 2019 2019
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		phenotype Finding 5 1 0.100 None 1.000 1 1 2019 2019
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		phenotype Finding 6 2 0.100 None 1.000 1 1 2019 2019
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		phenotype Finding 7 1 0.100 None 1.000 1 1 2019 2019
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		phenotype Finding 7 2 0.100 None 1.000 1 1 2019 2019
CUI: C0003081
Disease: Anisometropia
Anisometropia 		disease Eye Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		disease Congenital Abnormality 7 1 0.100 None 0
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		phenotype Finding 8 2 0.100 None 1.000 1 1 2019 2019