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: C4021539
Disease: Posterior helix pit
Posterior helix pit 		9 0 8 0.29 0 0
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		6 0 6 0.22 0 0
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia 		6 0 6 0.22 0 0
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		6 0 6 0.22 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 0 8 0.20 0 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		14 0 6 0.17 0 0
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		23 0 7 0.16 0 0
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		36 0 7 0.12 0 0
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		34 0 6 0.11 0 0
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		14 0 4 0.11 0 0
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		14 0 4 0.11 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 0 7 0.11 0 0
CUI: C1856659
Disease: Polysplenia
Polysplenia 		15 0 4 0.11 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 0 6 1.0E-01 0 0
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		7 0 3 9.7E-02 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 0 8 9.6E-02 0 0
CUI: C1856184
Disease: HEMIHYPERPLASIA, ISOLATED
HEMIHYPERPLASIA, ISOLATED 		31 0 5 9.4E-02 0 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 0 7 9.3E-02 0 0
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		32 0 5 9.3E-02 0 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 0 9 8.7E-02 0 0
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		50 0 6 8.5E-02 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 3 8 8.3E-02 1 0.25
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		12 0 3 8.3E-02 0 0
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		12 0 3 8.3E-02 0 0
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		12 0 3 8.3E-02 0 0