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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 39 2.1E-02 4 7.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 35 1.6E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 33 1.5E-02 1 1.8E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 31 3.6E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 31 2.4E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 31 3.2E-02 3 5.1E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 31 3.0E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 31 6.2E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 31 2.7E-02 2 6.7E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 30 4.0E-02 1 1.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 30 5.0E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 30 3.5E-02 1 7.1E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 30 4.1E-02 1 1.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 30 6.9E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 30 3.6E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 30 2.9E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 28 7.0E-02 2 2.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 28 2.6E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 27 4.5E-02 1 1.7E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 27 4.3E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 26 4.1E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 25 4.1E-02 1 1.6E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 25 5.4E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 25 5.6E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 25 4.0E-02 0 0