rs28936415, PMM2

N. diseases: 22
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital disorder of glycosylation type 1A
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
80 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.740 1.000 14 1997 2015
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
38 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.710 1.000 1 2000 2000
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 1.000 12 1997 2017
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
10 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0