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: C0393725
Disease: Eating epilepsy
Eating epilepsy 		1 0 1 1.00 0 0
CUI: C1864361
Disease: Lower thoracic kyphosis
Lower thoracic kyphosis 		2 1 1 0.50 1 1.6E-02
CUI: C4021099
Disease: Orthostatic tachycardia
Orthostatic tachycardia 		2 1 1 0.50 1 1.6E-02
CUI: C4025747
Disease: Bulbous tips of toes
Bulbous tips of toes 		2 1 1 0.50 1 1.6E-02
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		3 2 1 0.33 1 1.5E-02
CUI: C2930898
Disease: Benign essential blepharospasm
Benign essential blepharospasm 		3 0 1 0.33 0 0
CUI: C0259813
Disease: Drop Attack
Drop Attack 		4 0 1 0.25 0 0
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		4 0 1 0.25 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		7 5 1 0.14 1 1.5E-02
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		7 0 1 0.14 0 0
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		10 0 1 1.0E-01 0 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		10 3 1 1.0E-01 1 1.5E-02
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		11 4 1 9.1E-02 1 1.5E-02
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		11 7 1 9.1E-02 1 1.4E-02
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		16 3 1 6.2E-02 1 1.5E-02
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		18 5 1 5.6E-02 1 1.5E-02
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 0 1 5.6E-02 0 0
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		22 0 1 4.5E-02 0 0
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		30 0 1 3.3E-02 0 0
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		39 0 1 2.6E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 2 1 2.5E-02 1 1.5E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 2.4E-02 0 0
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		44 0 1 2.3E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		46 11 1 2.2E-02 1 1.4E-02
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		46 0 1 2.2E-02 0 0