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: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		3 2 1 0.33 1 0.14
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		6 4 1 0.17 1 0.11
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		7 7 1 0.14 1 8.3E-02
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		9 4 1 0.11 1 0.11
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 1 0.11 1 0.11
CUI: C4021959
Disease: Round ear
Round ear 		10 4 1 1.0E-01 1 0.11
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 1 5.0E-02 1 6.2E-02
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 0 1 4.3E-02 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 1 4.2E-02 1 3.0E-02
CUI: C0332573
Disease: Macule
Macule 		31 2 1 3.2E-02 1 0.14
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 3.1E-02 1 2.4E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 13 1 2.8E-02 1 5.6E-02
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		38 12 1 2.6E-02 1 5.9E-02
CUI: C1292780
Disease: Therapy-related myelodysplastic syndrome
Therapy-related myelodysplastic syndrome 		42 0 1 2.4E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 7 1 2.2E-02 1 8.3E-02
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 10 1 2.2E-02 1 6.7E-02
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 14 1 2.0E-02 1 5.3E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 1 1.8E-02 1 5.6E-02
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 4 1 1.6E-02 1 0.11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 1 1.6E-02 1 8.3E-03
CUI: C0241240
Disease: Tall stature
Tall stature 		79 14 1 1.3E-02 1 5.3E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 1 9.7E-03 1 1.0E-02
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		112 10 1 8.9E-03 1 6.7E-02
CUI: C0043094
Disease: Weight Gain
Weight Gain 		124 12 1 8.1E-03 1 5.9E-02
CUI: C0027960
Disease: Nevus
Nevus 		125 0 1 8.0E-03 0 0