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: C0332881
Disease: Congenital pseudoarthrosis
Congenital pseudoarthrosis 		1 0 1 1.00 0 0
CUI: C0334467
Disease: Fibrolipoma
Fibrolipoma 		1 0 1 1.00 0 0
CUI: C0349538
Disease: Malignant melanoma of anus
Malignant melanoma of anus 		1 0 1 1.00 0 0
CUI: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5 		1 1 1 1.00 1 4.5E-02
CUI: C1709220
Disease: Desmoplastic Neurotropic Melanoma
Desmoplastic Neurotropic Melanoma 		1 0 1 1.00 0 0
CUI: C1834236
Disease: Symmetric spinal nerve root neurofibromas
Symmetric spinal nerve root neurofibromas 		1 0 1 1.00 0 0
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling 		1 7 1 1.00 1 3.6E-02
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		1 5 1 1.00 1 3.8E-02
CUI: C3532247
Disease: Fetal cardiomyopathy
Fetal cardiomyopathy 		1 0 1 1.00 0 0
CUI: C4024216
Disease: Tibial pseudoarthrosis
Tibial pseudoarthrosis 		1 0 1 1.00 0 0
CUI: C4024217
Disease: Spinal neurofibromas
Spinal neurofibromas 		1 0 1 1.00 0 0
CUI: C0220695
Disease: Neurofibromatosis, type 4, of Riccardi
Neurofibromatosis, type 4, of Riccardi 		2 0 1 0.50 0 0
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		2 0 1 0.50 0 0
CUI: C4025174
Disease: Large cafe-au-lait macules with irregular margins
Large cafe-au-lait macules with irregular margins 		2 1 1 0.50 1 4.5E-02
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma 		3 0 1 0.33 0 0
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
Malignant phyllodes tumor of breast 		3 0 1 0.33 0 0
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		3 0 1 0.33 0 0
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		3 18 1 0.33 17 0.74
CUI: C1827970
Disease: Neurofibroma of subcutaneous tissue
Neurofibroma of subcutaneous tissue 		3 0 1 0.33 0 0
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement 		3 0 1 0.33 0 0
CUI: C0043324
Disease: Juvenile Xanthogranuloma
Juvenile Xanthogranuloma 		4 0 1 0.25 0 0
CUI: C0221252
Disease: Eruptive xanthoma
Eruptive xanthoma 		4 0 1 0.25 0 0
CUI: C0851265
Disease: Learning problems
Learning problems 		4 0 1 0.25 0 0
CUI: C1333003
Disease: Childhood Kidney Neoplasm
Childhood Kidney Neoplasm 		4 0 1 0.25 0 0
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		4 25 1 0.25 17 0.57