ETHE1, ETHE1 persulfide dioxygenase, 23474

N. diseases: 46; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease CTD_human
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		0.100 Biomarker phenotype HPO
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		0.100 CausalMutation phenotype CLINVAR
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 CausalMutation disease CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		0.100 Biomarker phenotype HPO
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		0.100 Biomarker phenotype HPO
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 Biomarker phenotype HPO
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		0.100 Biomarker phenotype HPO