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: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 10 0.29 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 12 0.23 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 11 0.22 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 11 0.22 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 8 0.22 0 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 7 0.21 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 7 0.21 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 8 0.20 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 7 0.17 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 12 0.16 0 0
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral 		18 0 6 0.14 0 0
CUI: C0221182
Disease: Chordee
Chordee 		11 0 5 0.14 0 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		11 0 5 0.14 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 11 0.13 0 0
CUI: C0563449
Disease: Epispadias, male (disorder)
Epispadias, male (disorder) 		4 0 4 0.13 0 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 0 6 0.13 0 0
CUI: C4022477
Disease: Onychogryposis of fingernail
Onychogryposis of fingernail 		4 0 4 0.13 0 0
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid 		6 0 4 0.12 0 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		15 0 5 0.12 0 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology 		6 0 4 0.12 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 5 0.12 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 8 0.12 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 7 0.12 0 0
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion 		8 0 4 0.12 0 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		8 0 4 0.12 0 0