Source: HPO

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: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
Paroxysmal involuntary eye movements
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
Decreased activity of mitochondrial complex I
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
Abnormal mitochondria in muscle tissue
disease 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
Focal T2 hyperintense brainstem lesion
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group 0.100 None 0 0