Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 Biomarker disease CTD_human
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 CausalMutation disease CLINVAR
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840404
Disease: Hyperostosis Cranialis Interna
Hyperostosis Cranialis Interna 		0.400 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.120 Biomarker group HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.100 Biomarker phenotype HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0813217
Disease: Expressionless face
Expressionless face 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO