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 0.50 0 0
CUI: C0334467
Disease: Fibrolipoma
Fibrolipoma 		1 0 1 0.50 0 0
CUI: C0349538
Disease: Malignant melanoma of anus
Malignant melanoma of anus 		1 0 1 0.50 0 0
CUI: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5 		1 0 1 0.50 0 0
CUI: C1709220
Disease: Desmoplastic Neurotropic Melanoma
Desmoplastic Neurotropic Melanoma 		1 0 1 0.50 0 0
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		1 0 1 0.50 0 0
CUI: C1834236
Disease: Symmetric spinal nerve root neurofibromas
Symmetric spinal nerve root neurofibromas 		1 0 1 0.50 0 0
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling 		1 0 1 0.50 0 0
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		1 0 1 0.50 0 0
CUI: C1861627
Disease: Butterfly vertebral arch
Butterfly vertebral arch 		1 0 1 0.50 0 0
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		1 0 1 0.50 0 0
CUI: C3532247
Disease: Fetal cardiomyopathy
Fetal cardiomyopathy 		1 0 1 0.50 0 0
CUI: C4024216
Disease: Tibial pseudoarthrosis
Tibial pseudoarthrosis 		1 0 1 0.50 0 0
CUI: C4024217
Disease: Spinal neurofibromas
Spinal neurofibromas 		1 0 1 0.50 0 0
CUI: C0220695
Disease: Neurofibromatosis, type 4, of Riccardi
Neurofibromatosis, type 4, of Riccardi 		2 0 1 0.33 0 0
CUI: C0344975
Disease: Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Atresia with Intact Ventricular Septum 		2 0 1 0.33 0 0
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		2 0 1 0.33 0 0
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		2 0 1 0.33 0 0
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		2 0 1 0.33 0 0
CUI: C4021591
Disease: Reduced number of intrahepatic bile ducts
Reduced number of intrahepatic bile ducts 		2 0 1 0.33 0 0
CUI: C4025174
Disease: Large cafe-au-lait macules with irregular margins
Large cafe-au-lait macules with irregular margins 		2 0 1 0.33 0 0
CUI: C0266242
Disease: Congenital hypoplasia of bile duct
Congenital hypoplasia of bile duct 		3 0 1 0.25 0 0
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma 		3 0 1 0.25 0 0
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
Malignant phyllodes tumor of breast 		3 0 1 0.25 0 0
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		3 0 1 0.25 0 0