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: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome 		4 0 1 0.25 0 0
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		5 0 1 0.20 0 0
CUI: C0346057
Disease: Cutaneous neurofibroma
Cutaneous neurofibroma 		5 0 1 0.20 0 0
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		5 0 1 0.20 0 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		5 0 1 0.20 0 0
CUI: C0751374
Disease: Schwannomatosis, Plexiform
Schwannomatosis, Plexiform 		5 0 1 0.20 0 0
CUI: C0917817
Disease: Neurofibromatosis 3
Neurofibromatosis 3 		5 0 1 0.20 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 1 0.20 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 1 0.20 0 0
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		6 12 1 0.17 2 6.2E-02
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		6 0 1 0.17 0 0
CUI: C0031118
Disease: Peripheral Nervous System Neoplasms
Peripheral Nervous System Neoplasms 		7 0 1 0.14 0 0
CUI: C0221363
Disease: Bifid nose
Bifid nose 		9 0 1 0.11 0 0
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		9 0 1 0.11 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 0.11 0 0
CUI: C0796418
Disease: Visual Pathway Glioma
Visual Pathway Glioma 		10 0 1 1.0E-01 0 0
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		11 0 1 9.1E-02 0 0
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization 		12 0 1 8.3E-02 0 0
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		13 0 1 7.7E-02 0 0
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		16 0 1 6.2E-02 0 0
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		16 0 1 6.2E-02 0 0
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		16 0 1 6.2E-02 0 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		16 0 1 6.2E-02 0 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		17 0 1 5.9E-02 0 0
CUI: C0017653
Disease: Glomus Tumor
Glomus Tumor 		18 0 1 5.6E-02 0 0