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: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 7 9.9E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 20 9.5E-02 3 2.5E-02
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 4 9.5E-02 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 9.5E-02 0 0
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		11 2 4 9.3E-02 1 1.1E-02
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 5 9.3E-02 0 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		36 0 6 9.1E-02 0 0
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 9.1E-02 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 9.1E-02 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		26 0 5 8.8E-02 0 0
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		52 0 7 8.6E-02 0 0
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		27 0 5 8.6E-02 0 0
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		3 0 3 8.3E-02 0 0
CUI: C1854774
Disease: Dermatan sulfate excretion in urine
Dermatan sulfate excretion in urine 		3 0 3 8.3E-02 0 0
CUI: C1854834
Disease: Dense calvaria
Dense calvaria 		3 0 3 8.3E-02 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 6 7.9E-02 0 0
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		60 0 7 7.9E-02 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 7 7.9E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 9 7.8E-02 0 0
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		7 101 3 7.5E-02 3 1.6E-02
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		108 0 10 7.5E-02 0 0
CUI: C4023009
Disease: Constrictive median neuropathy
Constrictive median neuropathy 		8 0 3 7.3E-02 0 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		9 0 3 7.1E-02 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		25 0 4 7.0E-02 0 0
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		10 0 3 7.0E-02 0 0