SELENOI, selenoprotein I, 85465

N. diseases: 29; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
0.100 Biomarker phenotype HPO
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis
0.100 Biomarker phenotype HPO
CUI: C1834664
Disease: Nasal, dysarthic speech
Nasal, dysarthic speech
0.100 Biomarker phenotype HPO
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
0.100 Biomarker disease HPO
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia
0.100 Biomarker phenotype HPO
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
0.100 Biomarker phenotype HPO
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity
0.100 Biomarker phenotype HPO
CUI: C1861519
Disease: Moderately short stature
Moderately short stature
0.100 Biomarker phenotype HPO
CUI: C1969462
Disease: Demyelinating motor neuropathy
Demyelinating motor neuropathy
0.100 Biomarker phenotype HPO
Central retinal vessel vascular tortuosity
0.100 Biomarker phenotype HPO
CUI: C4022595
Disease: Tetraplegia/tetraparesis
Tetraplegia/tetraparesis
0.100 Biomarker disease HPO
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit
0.100 Biomarker phenotype HPO
Hyporeflective spaces on macular OCT
0.100 Biomarker phenotype HPO
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
0.100 Biomarker disease HPO
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.070 Biomarker disease BEFREE Using reverse phase protein array, Western blot, Super TOP/FOP, confocal microscopy, and sphere formation ability (SFA) assays, we identified the AKT and Wnt signaling pathways as the key targets of aprepitant in three human HB cell lines (HepT1, HepG2, and HuH6). 26516161 2015
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.070 Biomarker disease BEFREE We assessed β-catenin and Yap1 signaling and interactions in hepatoblastoma cell lines ((HuH6, HepG2, HepT1, HC-AFW1, HepG2, and HC-AFW1); proteins were knocked down with small interfering RNAs, and effects on proliferation and cell death were measured. 24837480 2014