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: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		71 8 39 0.38 4 0.50
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		29 2 21 0.27 2 0.50
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		58 0 26 0.25 0 0
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		32 3 14 0.16 2 0.40
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		104 12 22 0.14 2 0.14
CUI: C4725091
Disease: metastatic intraocular melanoma
metastatic intraocular melanoma 		53 0 15 0.14 0 0
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva 		30 2 12 0.13 2 0.50
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 14 0.13 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 24 14 0.13 1 3.7E-02
CUI: C0686377
Disease: CNS metastases
CNS metastases 		102 14 20 0.13 2 0.12
CUI: C2986561
Disease: Spindle Cell Oncocytoma of the Adenohypophysis
Spindle Cell Oncocytoma of the Adenohypophysis 		35 2 12 0.13 2 0.50
CUI: C0019625
Disease: Sinus histiocytosis
Sinus histiocytosis 		19 2 10 0.12 2 0.50
CUI: C2931202
Disease: Urachal cancer
Urachal cancer 		19 0 10 0.12 0 0
CUI: C3899655
Disease: Childhood Langerhans Cell Histiocytosis
Childhood Langerhans Cell Histiocytosis 		40 2 12 0.12 2 0.50
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis 		40 2 12 0.12 2 0.50
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		97 10 18 0.12 2 0.17
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		92 10 17 0.12 2 0.17
CUI: C0334663
Disease: Histiocytic sarcoma
Histiocytic sarcoma 		69 8 14 0.11 2 0.20
CUI: C4684880
Disease: Advanced Bile Duct Carcinoma
Advanced Bile Duct Carcinoma 		19 0 9 0.11 0 0
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 0 10 0.11 0 0
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		62 0 13 0.11 0 0
CUI: C4744564
Disease: Metastatic Colorectal Carcinoma
Metastatic Colorectal Carcinoma 		42 7 11 0.11 2 0.22
CUI: C3900097
Disease: Adult Penile Carcinoma
Adult Penile Carcinoma 		37 0 10 0.10 0 0
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer 		59 0 12 0.10 0 0
CUI: C0853105
Disease: Penis carcinoma
Penis carcinoma 		49 0 11 0.10 0 0