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: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 3 0.12 2 0.29
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 3 2 9.5E-02 1 0.17
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 9.5E-02 2 0.13
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 7 3 9.4E-02 1 1.0E-01
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 9 3 9.4E-02 2 0.18
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 9.1E-02 1 0.17
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 9.1E-02 2 0.50
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 8.7E-02 2 0.29
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		43 8 5 8.5E-02 2 0.20
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts 		5 0 2 8.3E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 3 7.9E-02 3 0.25
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		21 0 3 7.7E-02 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 7.1E-02 2 0.50
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		9 0 2 7.1E-02 0 0
CUI: C4721438
Disease: Mitral valve dysplasia
Mitral valve dysplasia 		9 0 2 7.1E-02 0 0
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 6.9E-02 1 7.7E-02
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 3 6.7E-02 2 0.22
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 6.7E-02 2 0.33
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		47 16 4 6.2E-02 2 0.11
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		35 0 3 5.7E-02 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 2 5.6E-02 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 2 5.4E-02 2 0.33
CUI: C0004158
Disease: Athetosis
Athetosis 		39 0 3 5.3E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 6 2 5.3E-02 1 0.11
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		19 7 2 5.3E-02 2 0.22