Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease HPO
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease CTD_human
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4552048
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 1
ABDOMINAL OBESITY-METABOLIC SYNDROME 1 		0.300 Biomarker disease CTD_human
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 Biomarker group HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 Biomarker group HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		0.100 Biomarker phenotype HPO
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		0.100 Biomarker disease HPO
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat 		0.100 Biomarker phenotype HPO
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		0.100 Biomarker phenotype HPO
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985