rs794727931, ALG8

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR
Cyanosis
CUI: C0010520
Disease: Cyanosis
0.700 CausalMutation CLINVAR
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
CUI: C4022114
Disease: Aplasia/hypoplasia of the proximal phalanx of the 5th toe
0.700 CausalMutation CLINVAR
Fetal Distress
CUI: C0015930
Disease: Fetal Distress
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 CausalMutation CLINVAR
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
0.700 CausalMutation CLINVAR
Apnea
CUI: C0003578
Disease: Apnea
0.700 CausalMutation CLINVAR
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 CausalMutation CLINVAR
Overriding toe
CUI: C0920299
Disease: Overriding toe
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Motor retardation
CUI: C0424230
Disease: Motor retardation
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Congenital disorder of glycosylation type 1H
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
0.700 CausalMutation CLINVAR
Macroglossia
CUI: C0024421
Disease: Macroglossia
0.700 CausalMutation CLINVAR
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
0.700 CausalMutation CLINVAR
Partial thromboplastin time increased (finding)
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
0.700 CausalMutation CLINVAR