Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		16 0 16 0.27 0 0
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		18 0 16 0.26 0 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 0 30 0.26 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 13 24 0.23 2 0.13
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		35 0 16 0.21 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 11 0.18 0 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		18 0 11 0.17 0 0
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		11 0 10 0.17 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 14 0.16 0 0
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		13 0 10 0.16 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 11 0.15 0 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		12 0 9 0.15 0 0
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 9 0.14 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 3 11 0.14 1 0.17
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		46 0 11 0.12 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 7 0.11 0 0
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		63 0 12 0.11 0 0
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 0 11 0.10 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 20 9.5E-02 0 0
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		23 0 7 9.3E-02 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 8 9.2E-02 0 0
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		13 0 6 9.1E-02 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 16 9.1E-02 0 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		25 0 7 9.1E-02 0 0
CUI: C0234518
Disease: Slurred speech
Slurred speech 		39 10 8 8.9E-02 2 0.17