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: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		4 25 2 0.40 18 0.72
CUI: C0332881
Disease: Congenital pseudoarthrosis
Congenital pseudoarthrosis 		1 0 1 0.33 0 0
CUI: C0334467
Disease: Fibrolipoma
Fibrolipoma 		1 0 1 0.33 0 0
CUI: C0349538
Disease: Malignant melanoma of anus
Malignant melanoma of anus 		1 0 1 0.33 0 0
CUI: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5 		1 1 1 0.33 1 5.6E-02
CUI: C1709220
Disease: Desmoplastic Neurotropic Melanoma
Desmoplastic Neurotropic Melanoma 		1 0 1 0.33 0 0
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		1 22 1 0.33 17 0.74
CUI: C1834236
Disease: Symmetric spinal nerve root neurofibromas
Symmetric spinal nerve root neurofibromas 		1 0 1 0.33 0 0
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling 		1 7 1 0.33 1 4.2E-02
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		1 5 1 0.33 1 4.5E-02
CUI: C3532247
Disease: Fetal cardiomyopathy
Fetal cardiomyopathy 		1 0 1 0.33 0 0
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		1 0 1 0.33 0 0
CUI: C4024216
Disease: Tibial pseudoarthrosis
Tibial pseudoarthrosis 		1 0 1 0.33 0 0
CUI: C4024217
Disease: Spinal neurofibromas
Spinal neurofibromas 		1 0 1 0.33 0 0
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		6 12 2 0.29 2 7.1E-02
CUI: C0220695
Disease: Neurofibromatosis, type 4, of Riccardi
Neurofibromatosis, type 4, of Riccardi 		2 0 1 0.25 0 0
CUI: C0796000
Disease: Multiple non-ossifying fibromatosis
Multiple non-ossifying fibromatosis 		2 0 1 0.25 0 0
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		2 0 1 0.25 0 0
CUI: C4021264
Disease: Abnormal ventricular septum morphology
Abnormal ventricular septum morphology 		2 0 1 0.25 0 0
CUI: C4025174
Disease: Large cafe-au-lait macules with irregular margins
Large cafe-au-lait macules with irregular margins 		2 1 1 0.25 1 5.6E-02
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma 		3 0 1 0.20 0 0
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
Malignant phyllodes tumor of breast 		3 0 1 0.20 0 0
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		3 0 1 0.20 0 0
CUI: C1827970
Disease: Neurofibroma of subcutaneous tissue
Neurofibroma of subcutaneous tissue 		3 0 1 0.20 0 0
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement 		3 0 1 0.20 0 0