Source: BEFREE ×
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: C0432562
Disease: Malignant lymphoma of spleen
Malignant lymphoma of spleen 		0 2 0 0 2 0.11
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 2.2E-03 0 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		74 0 1 2.2E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		68 0 1 2.2E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		66 0 1 2.3E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		63 0 1 2.3E-03 0 0
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		62 0 1 2.3E-03 0 0
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		61 0 1 2.3E-03 0 0
CUI: C0683322
Disease: Mental impairment
Mental impairment 		58 0 1 2.3E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		56 0 1 2.3E-03 0 0
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		54 0 1 2.3E-03 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		51 0 1 2.3E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		50 0 1 2.3E-03 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		50 0 1 2.3E-03 0 0
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		50 0 1 2.3E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		49 0 1 2.3E-03 0 0
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		49 0 1 2.3E-03 0 0
CUI: C0403824
Disease: Teratozoospermia
Teratozoospermia 		47 0 1 2.4E-03 0 0
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		46 0 1 2.4E-03 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		43 0 1 2.4E-03 0 0
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		42 0 1 2.4E-03 0 0
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		42 0 1 2.4E-03 0 0
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		40 0 1 2.4E-03 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		39 0 1 2.4E-03 0 0
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		37 0 1 2.4E-03 0 0