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: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1 60 1 3.3E-02 2 1.3E-02
CHOREOATHETOSIS/SPASTICITY, EPISODIC
1 0 1 3.3E-02 0 0
Hemiplegic migraine, familial type 1
1 0 1 3.3E-02 0 0
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
1 0 1 3.3E-02 0 0
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
1 0 1 3.3E-02 0 0
Heterotopia, Periventricular, Ehlers-Danlos Variant
1 0 1 3.3E-02 0 0
Terminal Osseous Dysplasia and Pigmentary Defects
1 0 1 3.3E-02 0 0
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome
1 0 1 3.3E-02 0 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
1 0 1 3.3E-02 0 0
Molybdenum Cofactor Deficiency, Complementation Group C
1 0 1 3.3E-02 0 0
Neuronal intestinal pseudoobstruction
1 0 1 3.3E-02 0 0
Mental Retardation, Autosomal Dominant 5
1 0 1 3.3E-02 0 0
Congenital idiopathic intestinal pseudoobstruction
1 0 1 3.3E-02 0 0
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
1 0 1 3.3E-02 0 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
1 0 1 3.3E-02 0 0
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
1 0 1 3.3E-02 0 0
Benign paroxysmal torticollis of infancy
1 0 1 3.3E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
1 0 1 3.3E-02 0 0
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
1 0 1 3.3E-02 0 0
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
1 0 1 3.3E-02 0 0
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
1 0 1 3.3E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
1 13 1 3.3E-02 1 9.4E-03
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
1 9 1 3.3E-02 1 9.8E-03
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
1 0 1 3.3E-02 0 0
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
1 0 1 3.3E-02 0 0