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: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 21 2 1.5E-02 2 8.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 2 2.4E-03 2 2.0E-02
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		502 80 1 2.0E-03 2 2.4E-02
CUI: C0031154
Disease: Peritonitis
Peritonitis 		15 2 1 5.3E-02 2 0.33
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 1 2.3E-03 2 2.6E-02
CUI: C0040822
Disease: Tremor
Tremor 		528 52 1 1.9E-03 2 3.6E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 1 6.2E-03 2 3.6E-02
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 1 7.5E-03 2 8.0E-02
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 2 1 4.5E-02 2 0.33
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 1 1.0E-02 2 1.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 1 5.5E-04 2 3.6E-03
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 1 9.6E-03 2 6.7E-02
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		3 39 1 0.14 2 4.7E-02
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		1 48 1 0.20 2 3.8E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 1 4.2E-03 2 2.6E-02
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 38 1 0.12 2 4.8E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 1 8.2E-03 2 7.1E-02
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 1 0.17 2 9.5E-02
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		1 6 1 0.20 2 0.20
CUI: C3887499
Disease: Renal cyst
Renal cyst 		170 17 1 5.7E-03 2 9.5E-02
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		2 3 1 0.17 2 0.29
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 1 3.9E-03 1 2.8E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 824 2 7.1E-04 1 1.2E-03
CUI: C0018099
Disease: Gout
Gout 		205 2354 1 4.8E-03 1 4.2E-04
CUI: C0018965
Disease: Hematuria
Hematuria 		235 31 1 4.2E-03 1 2.8E-02