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: C0302142
Disease: Deformity
Deformity 		350 26 349 0.32 26 0.36
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 248 0.17 3 1.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 414 0.17 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 451 0.16 5 2.2E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 322 0.16 2 1.4E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 247 0.16 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 422 0.15 2 3.2E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 265 0.14 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 278 0.14 1 2.7E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 264 0.14 3 3.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 234 0.14 2 9.7E-03
CUI: C0023418
Disease: leukemia
leukemia 		2111 144 376 0.13 4 1.9E-02
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		1740 140 331 0.13 5 2.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 251 0.13 0 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 273 0.13 4 2.2E-02
CUI: C0007097
Disease: Carcinoma
Carcinoma 		2462 103 401 0.13 3 1.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 190 0.13 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 204 0.13 1 6.2E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 240 0.12 4 1.2E-02
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 58 166 0.12 8 6.5E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 1085 376 0.12 8 7.0E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		2507 257 396 0.12 7 2.2E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 168 364 0.12 2 8.4E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		2689 322 412 0.12 5 1.3E-02
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		2527 98 393 0.12 2 1.2E-02