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: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		1 0 1 0.17 0 0
CUI: C3713418
Disease: Ppm-X Syndrome
Ppm-X Syndrome 		1 0 1 0.17 0 0
CUI: C3714043
Disease: Trisomy Xq28
Trisomy Xq28 		1 0 1 0.17 0 0
CUI: C4022860
Disease: Maternal anticardiolipin antibody positive
Maternal anticardiolipin antibody positive 		1 0 1 0.17 0 0
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips 		1 0 1 0.17 0 0
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		9 0 2 0.15 0 0
CUI: C0233778
Disease: Synesthesia
Synesthesia 		2 0 1 0.14 0 0
CUI: C0751355
Disease: Polymyoclonus
Polymyoclonus 		2 0 1 0.14 0 0
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		2 0 1 0.14 0 0
CUI: C1833145
Disease: Distal ulnar hypoplasia
Distal ulnar hypoplasia 		2 0 1 0.14 0 0
CUI: C1834384
Disease: Glenoid fossa hypoplasia
Glenoid fossa hypoplasia 		2 0 1 0.14 0 0
CUI: C1839765
Disease: Triangular nasal tip
Triangular nasal tip 		2 0 1 0.14 0 0
CUI: C3693299
Disease: Broad uvula
Broad uvula 		2 2 1 0.14 1 0.50
CUI: C4022750
Disease: Thin fingernail
Thin fingernail 		2 0 1 0.14 0 0
CUI: C4023486
Disease: Focal EEG discharges with secondary generalization
Focal EEG discharges with secondary generalization 		2 0 1 0.14 0 0
CUI: C4023523
Disease: Bilateral fetal pyelectasis
Bilateral fetal pyelectasis 		2 0 1 0.14 0 0
CUI: C0031192
Disease: Persistent Ostium Primum
Persistent Ostium Primum 		3 0 1 0.12 0 0
CUI: C0264082
Disease: Craniomandibular osteopathy
Craniomandibular osteopathy 		3 0 1 0.12 0 0
CUI: C0426430
Disease: Drooping nasal tip
Drooping nasal tip 		3 0 1 0.12 0 0
CUI: C1845337
Disease: Lack of peer relationships
Lack of peer relationships 		3 0 1 0.12 0 0
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		3 0 1 0.12 0 0
CUI: C4021050
Disease: Dilated superficial abdominal veins
Dilated superficial abdominal veins 		3 0 1 0.12 0 0
CUI: C4022766
Disease: Abnormal large intestine physiology
Abnormal large intestine physiology 		3 0 1 0.12 0 0
CUI: C4023764
Disease: Elevated alkaline phosphatase of hepatic origin
Elevated alkaline phosphatase of hepatic origin 		3 0 1 0.12 0 0
CUI: C4025077
Disease: Slender metacarpals
Slender metacarpals 		3 0 1 0.12 0 0