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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 69 0.14 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 48 0.14 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 65 0.14 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 71 0.14 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 108 0.14 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 49 0.14 0 0
CUI: C0221373
Disease: Claw hand
Claw hand 		63 0 28 0.14 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 90 0.13 1 1.1E-02
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 23 0.13 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 24 0.13 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 38 0.13 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 29 0.13 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 27 0.13 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 26 0.13 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		30 0 23 0.13 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 22 0.13 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 22 0.13 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 22 0.13 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 40 0.13 1 5.3E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 42 0.13 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 86 0.13 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 54 0.13 0 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 0 27 0.13 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 22 0.13 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 23 0.13 0 0