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: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 0.67 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 6 0.55 0 0
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		17 0 9 0.53 0 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		18 0 6 0.29 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		18 0 6 0.29 0 0
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		19 0 6 0.27 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 6 0.27 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 6 0.24 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 6 0.23 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 6 0.19 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 6 0.18 0 0
CUI: C0851971
Disease: Gastrointestinal vascular malformation
Gastrointestinal vascular malformation 		5 0 2 0.17 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 6 0.16 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 6 0.14 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 6 0.14 0 0
CUI: C0003516
Disease: Aortopulmonary Septal Defect
Aortopulmonary Septal Defect 		1 0 1 0.11 0 0
CUI: C0086492
Disease: J-Pouch
J-Pouch 		1 0 1 0.11 0 0
CUI: C0232308
Disease: P pulmonale by EKG (finding)
P pulmonale by EKG (finding) 		1 0 1 0.11 0 0
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		1 0 1 0.11 0 0
CUI: C0270075
Disease: Perinatal disorder
Perinatal disorder 		1 0 1 0.11 0 0
CUI: C0748427
Disease: Right atrial enlargement
Right atrial enlargement 		1 0 1 0.11 0 0
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		1 0 1 0.11 0 0
CUI: C1858042
Disease: Becker Nevus Syndrome
Becker Nevus Syndrome 		1 0 1 0.11 0 0
CUI: C1863495
Disease: Aplasia cutis congenita over posterior parietal area
Aplasia cutis congenita over posterior parietal area 		1 0 1 0.11 0 0
CUI: C1863496
Disease: Aplasia cutis congenita on trunk or limbs
Aplasia cutis congenita on trunk or limbs 		1 0 1 0.11 0 0