Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
0.710 CausalMutation CLINVAR

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.120 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0013421
Disease: Dystonia
Dystonia
0.110 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0239399
Disease: Short extremities
Short extremities
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C1836038
Disease: Poor head control
Poor head control
0.100 Biomarker HPO

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
0.100 Biomarker HPO