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: C0152258
Disease: Morgagnian cataract
Morgagnian cataract
1 0 1 0.33 0 0
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 0 1 0.33 0 0
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 0 1 0.33 0 0
Symmetric spinal nerve root neurofibromas
1 0 1 0.33 0 0
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling
1 0 1 0.33 0 0
CUI: C1860334
Disease: Lisch nodules
Lisch nodules
1 0 1 0.33 0 0
CUI: C3532247
Disease: Fetal cardiomyopathy
Fetal cardiomyopathy
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: C4310622
Disease: ANTERIOR SEGMENT DYSGENESIS 8
ANTERIOR SEGMENT DYSGENESIS 8
1 0 1 0.33 0 0
Neurofibromatosis, type 4, of Riccardi
2 0 1 0.25 0 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 11
2 0 1 0.25 0 0
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome
2 0 1 0.25 0 0
Large cafe-au-lait macules with irregular margins
2 0 1 0.25 0 0
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
Cafe-au-lait macules with pulmonary stenosis
3 0 1 0.20 0 0
CUI: C1096099
Disease: Iris transillumination defect
Iris transillumination defect
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
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
3 0 1 0.20 0 0
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement
3 0 1 0.20 0 0