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: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 3 0.14 4 0.33
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 4 0.12 3 0.25
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 5 0.11 4 9.1E-02
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 3 2 1.0E-01 1 7.7E-02
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 1.0E-01 2 9.1E-02
CUI: C0152217
Disease: Exophoria
Exophoria 		3 0 2 9.5E-02 0 0
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 9.5E-02 1 7.7E-02
CUI: C1859698
Disease: Contractures of the large joints
Contractures of the large joints 		3 0 2 9.5E-02 0 0
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 9.5E-02 2 0.18
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 4 9.3E-02 2 0.12
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		16 0 3 9.1E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 3 8.8E-02 0 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		19 7 3 8.3E-02 2 0.12
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		6 0 2 8.3E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 2 8.0E-02 2 0.14
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 3 7.9E-02 3 0.25
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		8 2 2 7.7E-02 1 8.3E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 2 7.4E-02 1 7.1E-02
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 7.4E-02 2 0.18
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 4 7.4E-02 1 3.4E-02
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		10 0 2 7.1E-02 0 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		10 0 2 7.1E-02 0 0
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 7.1E-02 1 5.0E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 6.9E-02 2 0.15
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 2 6.9E-02 2 0.12