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: C0860439
Disease: Mottled pigmentation
Mottled pigmentation 		5 0 2 0.14 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 2 0.14 0 0
CUI: C3151495
Disease: Long upper lip
Long upper lip 		5 0 2 0.14 0 0
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity 		5 0 2 0.14 0 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		5 0 2 0.14 0 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth 		14 0 3 0.14 0 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		6 0 2 0.13 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 0 2 0.13 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		6 0 2 0.13 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		6 0 2 0.13 0 0
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		16 0 3 0.12 0 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		25 0 4 0.12 0 0
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		7 0 2 0.12 0 0
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging 		8 0 2 0.12 0 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation 		8 0 2 0.12 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 2 0.12 0 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 0 3 0.11 0 0
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		9 0 2 0.11 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 0 3 0.11 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		9 0 2 0.11 0 0
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		10 0 2 0.11 0 0
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		10 0 2 0.11 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 0 2 0.11 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 2 0.11 0 0
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		10 0 2 0.11 0 0