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: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 5 0.25 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 5 0.24 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 5 0.21 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 5 0.20 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 5 0.19 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 5 0.17 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 6 0.14 0 0
CUI: C0271547
Disease: Overproduction of growth hormone
Overproduction of growth hormone 		2 0 2 0.13 0 0
CUI: C0281913
Disease: Swelling of skeletal muscle
Swelling of skeletal muscle 		2 0 2 0.13 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 5 0.12 0 0
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		3 0 2 0.12 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 5 0.12 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 5 0.12 0 0
CUI: C0014008
Disease: Empty Sella Syndrome
Empty Sella Syndrome 		4 0 2 0.12 0 0
CUI: C0155300
Disease: Pseudopapilledema
Pseudopapilledema 		4 0 2 0.12 0 0
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		4 0 2 0.12 0 0
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 0 2 0.12 0 0
CUI: C4318479
Disease: Growth Hormone Insensitivity Syndrome
Growth Hormone Insensitivity Syndrome 		4 0 2 0.12 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 6 0.11 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 4 0.11 0 0
CUI: C0405578
Disease: Gigantism and acromegaly
Gigantism and acromegaly 		5 0 2 0.11 0 0
CUI: C0858734
Disease: Insulin hypoglycemia
Insulin hypoglycemia 		5 0 2 0.11 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 5 0.11 0 0
CUI: C1849524
Disease: Pygmy (disorder)
Pygmy (disorder) 		5 0 2 0.11 0 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		5 0 2 0.11 0 0