rs1555570093, MPDU1

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
0.700 GeneticVariation CLINVAR
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
0.700 GeneticVariation CLINVAR
obsolete Hypopigmented fundi
CUI: C1856885
Disease: obsolete Hypopigmented fundi
0.700 GeneticVariation CLINVAR
Strabismus
CUI: C0038379
Disease: Strabismus
0.700 GeneticVariation CLINVAR
Frontal lobe hypoplasia
CUI: C1849172
Disease: Frontal lobe hypoplasia
0.700 GeneticVariation CLINVAR
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Low Vision
CUI: C0042798
Disease: Low Vision
0.700 GeneticVariation CLINVAR
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
0.700 GeneticVariation CLINVAR
Motor retardation
CUI: C0424230
Disease: Motor retardation
0.700 GeneticVariation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
0.700 GeneticVariation CLINVAR