Source: CLINVAR ×
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: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		13 13 8 0.20 7 0.13
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		14 21 7 0.16 7 0.12
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		15 17 7 0.16 5 8.6E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		10 10 5 0.12 2 3.7E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 7 0.12 7 9.1E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 7 0.11 5 6.0E-02
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		5 5 4 0.11 1 2.0E-02
CUI: C4551520
Disease: Intention tremor
Intention tremor 		5 5 4 0.11 2 4.1E-02
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		7 6 4 0.10 2 4.0E-02
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		7 9 4 0.10 3 5.8E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 5 1.0E-01 5 7.8E-02
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		8 11 4 1.0E-01 3 5.6E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 7 9.6E-02 4 4.0E-02
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		13 13 4 8.9E-02 2 3.5E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 5 8.8E-02 3 4.4E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		14 17 4 8.7E-02 5 8.6E-02
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		14 24 4 8.7E-02 1 1.4E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		5 6 3 7.9E-02 2 4.0E-02
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		6 6 3 7.7E-02 2 4.0E-02
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		7 7 3 7.5E-02 2 3.9E-02
CUI: C0234518
Disease: Slurred speech
Slurred speech 		10 10 3 7.0E-02 4 7.7E-02
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		10 13 3 7.0E-02 2 3.5E-02
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 8 3 6.8E-02 1 1.9E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		12 15 3 6.7E-02 2 3.4E-02
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		13 17 3 6.5E-02 2 3.3E-02