Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		0.100 Biomarker phenotype HPO
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		0.100 Biomarker disease HPO
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		0.100 Biomarker phenotype HPO
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		0.100 Biomarker disease HPO
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.100 Biomarker phenotype HPO
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		0.100 Biomarker disease HPO
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype BEFREE SURF1 should be systematically screened in patients with childhood-onset severe demyelinating neuropathy and additional features such as lactic acidosis, brain MRI abnormalities, and cerebellar ataxia developing years after polyneuropathy. 24027061 2013
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0002063
Disease: Alkalosis
Alkalosis 		0.010 GeneticVariation phenotype BEFREE The aim of the study was to determine whether respiratory alkalosis is characteristic of patients with LS due to SURF1 mutations. 11804207 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Variants in COX6B1, NDUFA4, SURF1, and COX10 were identified to be associated with AD. 30054583 2018
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1832338
Disease: Axonal loss
Axonal loss 		0.100 Biomarker phenotype HPO
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.010 GeneticVariation disease BEFREE Phenotype-genotype correlations revealed predominant axonal neuropathy in mtDNA point mutations and demyelinating neuropathy in SURF1. 26762927 2016
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		0.100 Biomarker phenotype HPO
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		0.100 Biomarker phenotype HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		0.100 Biomarker phenotype HPO
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		0.100 Biomarker disease HPO