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: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio 		4 1 1 0.25 1 0.33
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		9 3 1 0.11 1 0.20
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 1 1 8.3E-02 1 0.33
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		15 1 1 6.7E-02 1 0.33
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		17 0 1 5.9E-02 0 0
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		17 0 1 5.9E-02 0 0
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		17 0 1 5.9E-02 0 0
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		17 0 1 5.9E-02 0 0
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		20 0 1 5.0E-02 0 0
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		20 19 1 5.0E-02 1 4.8E-02
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		21 7 1 4.8E-02 1 0.11
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		34 6 1 2.9E-02 1 0.12
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 4 1 2.4E-02 1 0.17
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		48 17 1 2.1E-02 1 5.3E-02
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		49 7 1 2.0E-02 1 0.11
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		56 17 1 1.8E-02 1 5.3E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 24 1 1.8E-02 1 3.8E-02
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 1 1.4E-02 0 0
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		95 0 1 1.1E-02 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 8 1 9.5E-03 1 1.0E-01
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 8 1 8.3E-03 1 1.0E-01
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 17 1 7.9E-03 1 5.3E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 1 4.8E-03 1 9.1E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 1 4.4E-03 1 3.4E-02