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: C0426870
Disease: Large hand
Large hand 		35 7 13 0.21 3 0.21
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 9 0.15 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 9 0.15 0 0
CUI: C4023051
Disease: Abnormality of skeletal muscle fiber size
Abnormality of skeletal muscle fiber size 		8 0 6 0.14 0 0
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		11 0 6 0.13 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 0 12 0.13 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 6 0.13 0 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		35 0 8 0.12 0 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		16 0 6 0.12 0 0
CUI: C0576225
Disease: Long foot
Long foot 		19 3 6 0.11 1 8.3E-02
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 6 0.11 0 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		21 0 6 0.11 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 14 0.11 2 9.5E-02
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 0 6 1.0E-01 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 6 1.0E-01 0 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		25 0 6 1.0E-01 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		37 0 7 9.9E-02 0 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea 		49 0 8 9.8E-02 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 4 9.8E-02 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 6 9.5E-02 0 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		58 0 8 8.8E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 5 8 8.8E-02 2 0.15
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		22 0 5 8.6E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 12 8.6E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 10 8.4E-02 0 0