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: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		9 0 9 9.4E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 10 9.3E-02 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 11 9.2E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 19 8.9E-02 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		27 0 10 8.8E-02 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 9 8.7E-02 0 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		17 0 9 8.7E-02 0 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		17 0 9 8.7E-02 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 15 8.6E-02 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 10 8.6E-02 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 9 8.5E-02 0 0
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		60 0 12 8.3E-02 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 12 8.3E-02 3 2.4E-02
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 12 8.3E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 13 8.2E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 9 8.2E-02 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 15 8.1E-02 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 8 8.1E-02 0 0
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		38 0 10 8.1E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 23 8.0E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 9 8.0E-02 42 0.25
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 10 7.9E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 10 7.8E-02 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 12 7.8E-02 0 0
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas 		72 0 12 7.7E-02 0 0