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: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		19 0 1 4.0E-04 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 1 4.0E-04 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 1 4.0E-04 0 0
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		18 0 1 4.0E-04 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 1 4.0E-04 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 0 1 4.0E-04 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 1 4.0E-04 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 1 4.0E-04 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		18 0 1 4.0E-04 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 1 4.0E-04 0 0
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		17 0 1 4.0E-04 0 0
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		17 0 1 4.0E-04 0 0
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		17 0 1 4.0E-04 0 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		17 0 1 4.0E-04 0 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		17 0 1 4.0E-04 0 0
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		16 0 1 4.0E-04 0 0
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		16 0 1 4.0E-04 0 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		16 0 1 4.0E-04 0 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		16 0 1 4.0E-04 0 0
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		16 0 1 4.0E-04 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 1 4.0E-04 0 0
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis 		16 0 1 4.0E-04 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 1 4.0E-04 0 0
CUI: C4303163
Disease: Autoimmune hepatitis type 2
Autoimmune hepatitis type 2 		16 0 1 4.0E-04 0 0
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis 		15 0 1 4.0E-04 0 0