Source: CLINVAR ×
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: C0029882
Disease: Otitis Media
Otitis Media 		1 0 1 1.00 0 0
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		1 7 1 1.00 6 0.67
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		1 15 1 1.00 6 0.35
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		1 4 1 1.00 1 9.1E-02
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		1 19 1 1.00 3 0.12
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		1 8 1 1.00 5 0.45
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		1 26 1 1.00 6 0.21
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		3 0 1 0.33 0 0
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		5 0 1 0.20 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		5 0 1 0.20 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		6 0 1 0.17 0 0
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 0 1 1.0E-01 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 0 1 9.1E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		12 0 1 8.3E-02 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		13 0 1 7.7E-02 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 0 1 5.3E-02 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		19 0 1 5.3E-02 0 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		21 0 1 4.8E-02 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 3.6E-02 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 3.2E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 3.1E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 3.0E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		42 0 1 2.4E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 2.3E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.4E-02 0 0