SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777436
rs587777436 		1.000 0.160 X 48905271 missense variant G/A snv
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2013
dbSNP: rs587776961
rs587776961 		1.000 0.160 X 48904918 missense variant C/T snv
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1557042808
rs1557042808 		1.000 X 48905114 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2016
dbSNP: rs606231196
rs606231196 		1.000 0.080 X 48902788 splice donor variant -/C;CCCC delins
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2016
dbSNP: rs1557041672
rs1557041672 		1.000 0.080 X 48902740 stop gained C/T snv
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0085702
Disease: Monocytosis
Monocytosis 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0020490
Disease: Hyperopia
Hyperopia 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622 		0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.700 1.000 1 2019 2019