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: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 6 0.19 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		71 0 15 0.18 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 6 0.18 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 13 0.18 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 17 0.18 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 13 0.17 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 8 7 0.16 1 1.1E-02
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 13 0.16 0 0
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		9 2 5 0.16 1 1.2E-02
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		32 3 8 0.15 1 1.2E-02
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		42 8 9 0.15 1 1.1E-02
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		42 7 9 0.15 1 1.1E-02
CUI: C0019625
Disease: Sinus histiocytosis
Sinus histiocytosis 		19 2 6 0.15 1 1.2E-02
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		20 0 6 0.14 0 0
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		29 2 7 0.14 1 1.2E-02
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus 		21 0 6 0.14 0 0
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		21 2 6 0.14 1 1.2E-02
CUI: C1511104
Disease: Benign Struma Ovarii
Benign Struma Ovarii 		5 0 4 0.14 0 0
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		5 6 4 0.14 1 1.1E-02
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 4 0.14 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.14 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		5 3 4 0.14 1 1.2E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 16 0.14 6 5.2E-02
CUI: C1531553
Disease: Dendritic cell neoplasm
Dendritic cell neoplasm 		6 2 4 0.13 1 1.2E-02
CUI: C1834120
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) 		6 0 4 0.13 0 0