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: C1837819
Disease: Cerebrofrontofacial Syndrome
Cerebrofrontofacial Syndrome 		2 0 2 0.50 0 0
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		3 1 2 0.40 1 3.3E-02
CUI: C0003516
Disease: Aortopulmonary Septal Defect
Aortopulmonary Septal Defect 		1 0 1 0.25 0 0
CUI: C0021355
Disease: Infective otitis externa
Infective otitis externa 		1 0 1 0.25 0 0
CUI: C0157680
Disease: Carbuncle/furuncle
Carbuncle/furuncle 		1 0 1 0.25 0 0
CUI: C0238454
Disease: Cavernous Sinus Thrombosis
Cavernous Sinus Thrombosis 		1 0 1 0.25 0 0
CUI: C0240583
Disease: Short upturned nose
Short upturned nose 		1 0 1 0.25 0 0
CUI: C0259860
Disease: psychiatric emergencies
psychiatric emergencies 		1 0 1 0.25 0 0
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		1 0 1 0.25 0 0
CUI: C0578437
Disease: Ischemic foot
Ischemic foot 		1 0 1 0.25 0 0
CUI: C0854328
Disease: Infection due to anaerobic bacteria
Infection due to anaerobic bacteria 		1 0 1 0.25 0 0
CUI: C1846130
Disease: Mental retardation X-linked, South African type
Mental retardation X-linked, South African type 		1 0 1 0.25 0 0
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		1 2 1 0.25 2 6.7E-02
CUI: C1858042
Disease: Becker Nevus Syndrome
Becker Nevus Syndrome 		1 0 1 0.25 0 0
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		1 0 1 0.25 0 0
CUI: C1970280
Disease: Hearing loss begins with loss of high frequencies
Hearing loss begins with loss of high frequencies 		1 0 1 0.25 0 0
CUI: C1970281
Disease: Audiogram shows sloping configuration
Audiogram shows sloping configuration 		1 0 1 0.25 0 0
CUI: C1970282
Disease: Deafness, profound, by 6th decade
Deafness, profound, by 6th decade 		1 0 1 0.25 0 0
CUI: C2349529
Disease: Pneumonia due to methicillin susceptible Staphylococcus aureus
Pneumonia due to methicillin susceptible Staphylococcus aureus 		1 0 1 0.25 0 0
CUI: C3279369
Disease: Microphthalmia (in some patients)
Microphthalmia (in some patients) 		1 0 1 0.25 0 0
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		1 0 1 0.25 0 0
CUI: C3549665
Disease: Deafness (in some patients)
Deafness (in some patients) 		1 0 1 0.25 0 0
CUI: C3808883
Disease: Short neck (in some patients)
Short neck (in some patients) 		1 0 1 0.25 0 0
CUI: C4012410
Disease: Enlarged ventricles (in some patients)
Enlarged ventricles (in some patients) 		1 0 1 0.25 0 0
CUI: C4021370
Disease: Duplication of thumb phalanx
Duplication of thumb phalanx 		6 0 2 0.25 0 0