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: C0598121
Disease: Hypoglycorrhachia
Hypoglycorrhachia 		1 0 1 1.00 0 0
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		1 7 1 1.00 4 0.18
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		1 8 1 1.00 3 0.12
CUI: C1847507
Disease: Paroxysmal lethargy
Paroxysmal lethargy 		1 0 1 1.00 0 0
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		1 11 1 1.00 2 7.1E-02
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		1 35 1 1.00 9 0.20
CUI: C0391870
Disease: Abnormality of red blood cells
Abnormality of red blood cells 		2 0 1 0.50 0 0
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences 		2 2 1 0.50 1 5.0E-02
CUI: C4025593
Disease: Increased intracellular sodium
Increased intracellular sodium 		2 0 1 0.50 0 0
CUI: C1167782
Disease: Lung hyperinflation
Lung hyperinflation 		3 0 1 0.33 0 0
CUI: C0006112
Disease: Brain Diseases, Metabolic
Brain Diseases, Metabolic 		4 0 1 0.25 0 0
CUI: C1281440
Disease: Familial obesity
Familial obesity 		4 0 1 0.25 0 0
CUI: C1334206
Disease: Intermediate Grade Ductal Breast Carcinoma In Situ
Intermediate Grade Ductal Breast Carcinoma In Situ 		4 0 1 0.25 0 0
CUI: C4014803
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 		4 0 1 0.25 0 0
CUI: C4727877
Disease: Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures 		4 0 1 0.25 0 0
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		5 0 1 0.20 0 0
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		5 0 1 0.20 0 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis 		5 0 1 0.20 0 0
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		6 0 1 0.17 0 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		6 19 1 0.17 9 0.31
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		6 0 1 0.17 0 0
CUI: C4023685
Disease: EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz) 		6 0 1 0.17 0 0
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY 		6 0 1 0.17 0 0
CUI: C0349578
Disease: Complex Endometrial Hyperplasia
Complex Endometrial Hyperplasia 		7 0 1 0.14 0 0
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		7 0 1 0.14 0 0