Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		0.500 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C0497327
Disease: Dementia
Dementia 		0.360 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. 10888890 2000
CUI: C0497327
Disease: Dementia
Dementia 		0.360 Biomarker disease GENOMICS_ENGLAND Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. 15049507 2004
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		0.150 Biomarker disease HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 Biomarker group HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0001816
Disease: Agnosia
Agnosia 		0.100 Biomarker disease HPO
CUI: C0003635
Disease: Apraxias
Apraxias 		0.100 Biomarker group HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.100 Biomarker group HPO
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease HPO