Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		1.000 CausalMutation disease CLINVAR
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		1.000 GeneticVariation disease CLINVAR
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 CausalMutation disease CLINVAR
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 GeneticVariation disease CLINVAR
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 Biomarker disease CTD_human
CUI: C0004134
Disease: Ataxia
Ataxia 		0.500 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.480 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.480 Biomarker phenotype HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease CLINVAR
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype CLINVAR
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 CausalMutation phenotype CLINVAR
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype MGD
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.400 Biomarker phenotype HPO
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		0.210 Biomarker disease MGD
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.200 Biomarker disease MGD
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.200 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.200 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype CLINVAR
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.200 Biomarker group HPO
CUI: C0154674
Disease: Symptomatic torsion dystonia
Symptomatic torsion dystonia 		0.200 Biomarker disease MGD
CUI: C0154675
Disease: Fragments of torsion dystonia
Fragments of torsion dystonia 		0.200 Biomarker disease MGD
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		0.200 Biomarker disease HPO
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.200 Biomarker disease MGD
CUI: C0393601
Disease: Idiopathic non-familial dystonia
Idiopathic non-familial dystonia 		0.200 Biomarker disease MGD