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 14 0.35 1 0.11
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		12 0 4 0.15 0 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 4 0.11 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 5 0.11 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 5 0.11 0 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		41 10 6 0.11 1 8.3E-02
CUI: C0269011
Disease: Increased size of penis
Increased size of penis 		12 0 3 0.11 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 4 8 0.11 1 0.17
CUI: C1837799
Disease: Generalized muscular appearance from birth
Generalized muscular appearance from birth 		2 0 2 0.11 0 0
CUI: C4021749
Disease: Cystic angiomatosis of bone
Cystic angiomatosis of bone 		2 0 2 0.11 0 0
CUI: C4476537
Disease: Reduced intrathoracic adipose tissue
Reduced intrathoracic adipose tissue 		2 0 2 0.11 0 0
CUI: C4476602
Disease: Reduced intraabdominal adipose tissue
Reduced intraabdominal adipose tissue 		2 0 2 0.11 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 9 0.10 0 0
CUI: C1837795
Disease: Prominent umbilicus
Prominent umbilicus 		3 0 2 1.0E-01 0 0
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		36 0 5 1.0E-01 0 0
CUI: C4022551
Disease: Wide penis
Wide penis 		3 0 2 1.0E-01 0 0
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia 		4 0 2 9.5E-02 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 2 9.5E-02 0 0
CUI: C4021738
Disease: Abnormality of the pubic bone
Abnormality of the pubic bone 		4 0 2 9.5E-02 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 3 9.4E-02 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 2 9.1E-02 0 0
CUI: C3277753
Disease: Deep-set nails
Deep-set nails 		5 0 2 9.1E-02 0 0
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		6 0 2 8.7E-02 0 0
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma 		7 0 2 8.3E-02 0 0
CUI: C1839816
Disease: Long neck
Long neck 		7 0 2 8.3E-02 0 0