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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 9 8.0E-02 42 0.25
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 21 0.12 42 0.17
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		1 45 1 1.0E-02 17 0.13
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		1 26 1 1.0E-02 12 0.10
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		1 17 1 1.0E-02 9 8.1E-02
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 2 2.1E-02 9 8.1E-02
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		2 13 2 2.1E-02 8 7.4E-02
CUI: C1836517
Disease: Senior-Loken Syndrome 5
Senior-Loken Syndrome 5 		2 11 2 2.1E-02 5 4.6E-02
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		6 15 4 4.1E-02 5 4.4E-02
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1 		18 6 17 0.18 4 3.8E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 7 4.1E-02 7 3.4E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 12 6.5E-02 4 3.2E-02
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		14 7 10 1.0E-01 3 2.8E-02
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		1 48 1 1.0E-02 4 2.7E-02
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 6 4.9E-02 3 2.6E-02
CUI: C1854912
Disease: Short long bone
Short long bone 		42 19 7 5.3E-02 3 2.5E-02
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 12 8.3E-02 3 2.4E-02
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 116 13 0.12 5 2.3E-02
CUI: C4551559
Disease: Senior-Loken Syndrome 1
Senior-Loken Syndrome 1 		5 3 5 5.2E-02 2 1.9E-02
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		4 5 3 3.1E-02 2 1.9E-02
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		2 5 2 2.1E-02 2 1.9E-02
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		44 6 19 0.16 2 1.9E-02
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		1 6 1 1.0E-02 2 1.9E-02
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		2 7 2 2.1E-02 2 1.9E-02
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		1 17 1 1.0E-02 2 1.7E-02