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: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 14 1 9.2E-03 1 7.1E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 1 5.8E-03 1 8.3E-02
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 11 1 7.8E-03 1 9.1E-02
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 7 1 1.4E-02 1 0.14
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 2 1 1.4E-02 1 0.50
CUI: C0311249
Disease: Cryptophthalmos
Cryptophthalmos 		5 1 1 0.20 1 1.00
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 1 1 6.2E-02 1 1.00
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 9.7E-03 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 1.1E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 1 7.2E-03 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		342 0 1 2.9E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 1 3.9E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 1 1.4E-03 0 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		16 0 1 6.2E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 0 1 2.0E-03 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 1 1.1E-02 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 1 2.5E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 3.7E-03 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 1 1.3E-03 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		3177 0 1 3.1E-04 0 0
CUI: C0018498
Disease: Hair Color
Hair Color 		130 0 1 7.7E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 3.4E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.3E-03 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 1 4.4E-03 0 0
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		27 0 1 3.7E-02 0 0