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: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 1.00 2 0.14
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 0.67 2 0.50
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 0.67 1 0.25
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 0.50 1 0.14
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		2 0 1 0.33 0 0
CUI: C4553013
Disease: Chemokine (C-C Motif) Ligand 21 Measurement
Chemokine (C-C Motif) Ligand 21 Measurement 		2 0 1 0.33 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 2 0.29 1 0.14
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		3 0 1 0.25 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 0.22 1 0.25
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		4 0 1 0.20 0 0
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 0.20 2 0.18
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 0.18 1 0.17
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 7 2 0.14 2 0.25
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 9 2 0.14 1 9.1E-02
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		6 0 1 0.14 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 2 0.11 1 0.17
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 6 2 0.11 2 0.29
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		19 7 2 0.11 1 0.11
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		20 0 2 1.0E-01 0 0
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		20 0 2 1.0E-01 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 2 1.0E-01 1 7.7E-02
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		21 2 2 9.5E-02 2 0.67
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 2 9.5E-02 1 0.17
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 6 2 7.4E-02 2 0.29
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 2 7.4E-02 1 0.11