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: C0013362
Disease: Dysarthria
Dysarthria 		34 42 9 0.13 15 0.18
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 39 7 0.11 10 0.11
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 6 0.10 2 2.5E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 7 1.0E-01 4 4.3E-02
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		13 13 5 9.6E-02 1 1.4E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		36 46 7 9.6E-02 4 4.0E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		14 17 5 9.4E-02 1 1.4E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		15 17 5 9.3E-02 3 4.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 14 8.9E-02 3 1.4E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 9 8.3E-02 3 2.0E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 8 8.0E-02 4 2.4E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 15 7.9E-02 3 1.0E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		12 13 4 7.7E-02 4 6.0E-02
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		13 17 4 7.5E-02 2 2.7E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 6 7.5E-02 2 1.7E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 36 5 7.5E-02 1 1.1E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 19 4 7.3E-02 4 5.5E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 42 5 7.2E-02 2 2.0E-02
CUI: C0040822
Disease: Tremor
Tremor 		16 21 4 7.1E-02 1 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 6 7.1E-02 3 2.4E-02
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		18 23 4 6.9E-02 5 6.6E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 5 6.6E-02 2 1.3E-02
CUI: C4551520
Disease: Intention tremor
Intention tremor 		5 5 3 6.5E-02 3 5.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 17 6.4E-02 10 2.2E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 5 6.4E-02 2 1.9E-02