Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		disease 0.750 None 1.000 0 11 1999 2016
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1839025
Disease: Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 2
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 2