ALG3, ALG3 alpha-1,3- mannosyltransferase, 10195

N. diseases: 61; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 CausalMutation disease CLINVAR
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 Biomarker disease CTD_human
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 GeneticVariation disease CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0149696
Disease: Food intolerance (disorder)
Food intolerance (disorder) 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO