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: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C4225234
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 		disease 0.710 strong 1.000 0 1 2015 2019
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.120 None 1.000 0 0 2015 2017
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes 		disease 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0