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: C1691215
Disease: Penile hypospadias
Penile hypospadias 		127 83 115 0.30 57 0.54
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 232 0.27 11 7.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 168 0.21 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 125 0.19 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 152 0.19 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 119 0.19 1 5.7E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 102 0.19 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 117 0.17 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 85 0.17 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 125 0.17 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 141 0.17 1 4.2E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 195 0.17 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 109 0.16 2 1.2E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 69 0.16 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 202 0.16 1 2.7E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 146 0.16 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 131 0.16 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 115 0.16 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 129 0.16 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 106 0.15 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 11 78 0.15 6 7.1E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 217 0.15 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 69 0.15 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 91 0.15 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 85 0.15 1 9.3E-03