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: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 4 0.19 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.19 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 4 0.15 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 4 0.15 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 5 0.15 0 0
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		4 0 3 0.14 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 3 0.14 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 5 0.14 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 0 3 0.13 0 0
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		7 0 3 0.12 0 0
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma 		7 0 3 0.12 0 0
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		44 0 7 0.12 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 5 0.12 0 0
CUI: C0025164
Disease: Megaesophagus
Megaesophagus 		10 0 3 0.11 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 7 0.11 0 0
CUI: C1333280
Disease: Desmoplastic melanoma
Desmoplastic melanoma 		20 0 4 0.11 0 0
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma 		10 0 3 0.11 0 0
CUI: C3839184
Disease: Low grade serous carcinoma
Low grade serous carcinoma 		11 0 3 0.11 0 0
CUI: C1834124
Disease: Shield chest
Shield chest 		12 0 3 0.10 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 0 4 0.10 0 0
CUI: C0032230
Disease: Pleural Rub
Pleural Rub 		2 0 2 1.0E-01 0 0
CUI: C0035234
Disease: Respiratory Sounds
Respiratory Sounds 		2 0 2 1.0E-01 0 0
CUI: C0035508
Disease: Rhonchi
Rhonchi 		2 0 2 1.0E-01 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 4 1.0E-01 0 0
CUI: C0700199
Disease: Multiple nevi
Multiple nevi 		2 0 2 1.0E-01 0 0