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: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 1 1.0E-01 0 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 1 1.0E-01 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 1 9.1E-02 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 1 7.1E-02 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 1 6.7E-02 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 1 5.9E-02 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 1 5.3E-02 0 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 0 1 4.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 4.0E-02 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 1 3.3E-02 0 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		30 0 1 3.3E-02 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 1 3.3E-02 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 1 3.3E-02 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 1 2.9E-02 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 1 2.9E-02 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 1 2.9E-02 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 1 2.6E-02 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 1 2.3E-02 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 1 1.8E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 1 1.8E-02 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 1 1.6E-02 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 1.4E-02 0 0
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		78 0 1 1.3E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 1 1.3E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 1.2E-02 0 0