Source: INFERRED ×
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: 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 6 0.67
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		1 15 1 1.00 6 0.38
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		1 4 1 1.00 1 1.0E-01
CUI: C1847507
Disease: Paroxysmal lethargy
Paroxysmal lethargy 		1 0 1 1.00 0 0
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		1 19 1 1.00 4 0.18
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		1 8 1 1.00 5 0.50
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		1 26 1 1.00 6 0.22
CUI: C0391870
Disease: Abnormality of red blood cells
Abnormality of red blood cells 		2 0 1 0.50 0 0
CUI: C4025593
Disease: Increased intracellular sodium
Increased intracellular sodium 		2 0 1 0.50 0 0
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		3 0 1 0.33 0 0
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		5 0 1 0.20 0 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		6 0 1 0.17 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		6 0 1 0.17 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		6 0 1 0.17 0 0
CUI: C1963933
Disease: Punding
Punding 		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: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		7 0 1 0.14 0 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements 		7 0 1 0.14 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		7 0 1 0.14 0 0
CUI: C4025184
Disease: Spontaneous hemolytic crises
Spontaneous hemolytic crises 		7 0 1 0.14 0 0
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia 		8 0 1 0.12 0 0
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		9 0 1 0.11 0 0
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		9 0 1 0.11 0 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem 		10 0 1 1.0E-01 0 0