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: C0235198
Disease: Unable to concentrate
Unable to concentrate 		1 1 1 0.50 1 0.33
CUI: C1860972
Disease: GENIOSPASM 1
GENIOSPASM 1 		1 0 1 0.50 0 0
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		1 11 1 0.50 2 0.17
CUI: C4017260
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS 		1 0 1 0.50 0 0
CUI: C4022774
Disease: Focal T2 hyperintense thalamic lesion
Focal T2 hyperintense thalamic lesion 		1 1 1 0.50 1 0.33
CUI: C4022968
Disease: Abnormal hypothalamus physiology
Abnormal hypothalamus physiology 		1 1 1 0.50 1 0.33
CUI: C4025791
Disease: Photomyoclonic seizures
Photomyoclonic seizures 		1 0 1 0.50 0 0
CUI: C4225243
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z 		1 0 1 0.50 0 0
CUI: C1849143
Disease: Progressive truncal ataxia
Progressive truncal ataxia 		2 0 1 0.33 0 0
CUI: C4023486
Disease: Focal EEG discharges with secondary generalization
Focal EEG discharges with secondary generalization 		2 0 1 0.33 0 0
CUI: C0152217
Disease: Exophoria
Exophoria 		3 1 1 0.25 1 0.33
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		3 0 1 0.25 0 0
CUI: C0240309
Disease: Hyperplasia of midface
Hyperplasia of midface 		4 2 1 0.20 1 0.25
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		4 2 1 0.20 2 0.67
CUI: C4023501
Disease: Focal myoclonic seizures
Focal myoclonic seizures 		4 0 1 0.20 0 0
CUI: C4023802
Disease: Hyperextensibility of the knee
Hyperextensibility of the knee 		4 3 1 0.20 1 0.20
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		4 3 1 0.20 1 0.20
CUI: C1836851
Disease: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 		5 0 1 0.17 0 0
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		6 4 1 0.14 1 0.17
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		6 4 1 0.14 2 0.40
CUI: C3665983
Disease: Oral aversion
Oral aversion 		7 4 1 0.12 1 0.17
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 1 8.3E-02 1 0.17
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 1 8.3E-02 0 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		11 7 1 8.3E-02 1 0.11
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		12 0 1 7.7E-02 0 0