ALG8, ALG8 alpha-1,3-glucosyltransferase, 79053

N. diseases: 64; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908293
rs121908293
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		0.800 GeneticVariation UNIPROT Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). 15235028 2004
dbSNP: rs121908294
rs121908294
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		0.800 GeneticVariation UNIPROT Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). 15235028 2004
dbSNP: rs121908293
rs121908293
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908294
rs121908294
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		T 0.800 CausalMutation CLINVAR
dbSNP: rs139832787
rs139832787
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1470636347
rs1470636347
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555073109
rs1555073109
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906277
rs387906277
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		T 0.700 CausalMutation CLINVAR
dbSNP: rs753631154
rs753631154
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0239234
Disease:
Low set ears 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0010520
Disease:
Cyanosis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C4022114
Disease:
Aplasia/hypoplasia of the proximal phalanx of the 5th toe 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0015930
Disease:
Fetal Distress 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0025990
Disease:
Micrognathism 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0019214
Disease:
Hepatosplenomegaly 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C4317146
Disease:
Acid reflux 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0020534
Disease:
Orbital separation excessive 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2749688
Disease:
Abnormal isoelectric focusing of serum transferrin 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0003578
Disease:
Apnea 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0020676
Disease:
Hypothyroidism 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0920299
Disease:
Overriding toe 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0424230
Disease:
Motor retardation 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C1858120
Disease:
Generalized hypotonia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794727931
rs794727931
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C2931002
Disease:
Congenital disorder of glycosylation type 1H 		C 0.700 CausalMutation CLINVAR