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

N. diseases: 64; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 CausalMutation disease CLINVAR
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 GeneticVariation disease CLINVAR
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease CTD_human
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 CausalMutation phenotype CLINVAR
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		0.100 CausalMutation disease CLINVAR
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.100 Biomarker group HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 CausalMutation disease CLINVAR
CUI: C0024236
Disease: Lymphedema
Lymphedema 		0.100 Biomarker disease HPO