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: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 17 34 7.9E-02 1 2.6E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 16 32 7.8E-02 1 2.6E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 96 7.8E-02 0 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		60 0 27 7.8E-02 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 32 7.8E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 44 7.8E-02 0 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		116 0 31 7.8E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 179 7.8E-02 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 28 7.8E-02 0 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		257 0 41 7.8E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 68 7.7E-02 1 5.3E-03
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 34 7.7E-02 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 29 7.7E-02 0 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		122 0 31 7.7E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 74 7.7E-02 1 9.8E-03
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 58 7.6E-02 0 0
CUI: C0231528
Disease: Myalgia
Myalgia 		226 0 38 7.6E-02 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 0 27 7.6E-02 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 44 7.5E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 51 7.5E-02 0 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		763 0 75 7.5E-02 0 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		178 0 34 7.5E-02 0 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 0 34 7.5E-02 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 29 7.5E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 0 51 7.4E-02 0 0