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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 83 0.19 1 2.0E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 86 0.19 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 124 0.18 3 3.5E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 120 0.17 1 1.6E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 67 0.17 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 53 0.16 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 46 0.16 1 4.2E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 82 0.16 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 74 0.16 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 96 0.15 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 42 0.15 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 39 0.15 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 74 0.14 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 78 0.14 1 2.4E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 48 0.14 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 55 0.14 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 73 0.13 3 5.2E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 111 0.13 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 48 0.13 1 4.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 122 0.13 4 2.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 93 0.13 1 1.5E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 93 0.13 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 35 0.12 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 31 0.12 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 55 0.12 1 2.1E-02