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: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 21 0.58 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 18 0.42 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 22 0.34 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 22 0.34 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 22 0.30 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 22 0.28 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 22 0.24 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 10 0.24 3 2.3E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 23 0.23 5 2.3E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 21 0.23 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 22 0.23 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 22 0.23 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 22 0.21 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 20 0.21 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 22 0.20 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 22 0.20 0 0
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		5 65 5 0.19 2 2.1E-02
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 5 0.19 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 7 0.18 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 7 0.18 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 9 0.18 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 12 0.18 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 5 0.18 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 7 0.17 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		27 0 7 0.15 0 0