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: C0266177
Disease: Megaduodenum
Megaduodenum 		1 0 1 0.25 0 0
CUI: C0405124
Disease: Nuchal Cord
Nuchal Cord 		1 1 1 0.25 1 0.33
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		6 11 2 0.25 1 7.7E-02
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		1 17 1 0.25 1 5.3E-02
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		1 1 1 0.25 1 0.33
CUI: C4023278
Disease: Left aortic arch with retroesophageal right subclavian artery
Left aortic arch with retroesophageal right subclavian artery 		1 1 1 0.25 1 0.33
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 1 1 0.25 1 0.33
CUI: C0343643
Disease: Facial wart
Facial wart 		2 2 1 0.20 1 0.25
CUI: C1849735
Disease: Underfolded helix
Underfolded helix 		2 2 1 0.20 1 0.25
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		2 2 1 0.20 1 0.25
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		2 1 1 0.20 1 0.33
CUI: C1862474
Disease: Decreased facial expression
Decreased facial expression 		3 0 1 0.17 0 0
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		3 1 1 0.17 1 0.33
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		3 0 1 0.17 0 0
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		3 2 1 0.17 1 0.25
CUI: C4025714
Disease: Abnormality of the autonomic nervous system
Abnormality of the autonomic nervous system 		3 0 1 0.17 0 0
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		4 2 1 0.14 1 0.25
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		4 6 1 0.14 1 0.12
CUI: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		4 0 1 0.14 0 0
CUI: C4022658
Disease: Punctate periventricular T2 hyperintense foci
Punctate periventricular T2 hyperintense foci 		4 1 1 0.14 1 0.33
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle 		5 0 1 0.12 0 0
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 0 1 0.12 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 1 0.12 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 1 0.12 0 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		15 0 2 0.12 0 0