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: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 3 84 0.88 3 0.21
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 7 26 0.26 1 5.0E-02
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 24 0.24 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 29 0.24 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 22 0.23 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 8 34 0.20 2 1.0E-01
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 26 0.20 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 28 0.20 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 32 0.20 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 27 0.20 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 31 0.20 1 5.0E-03
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 38 0.19 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 29 0.19 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 38 0.16 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 26 0.15 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 15 0.15 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 22 0.14 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 33 0.14 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 17 0.13 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 28 0.13 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 45 0.13 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 28 0.13 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 46 0.13 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 20 0.12 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 13 0.12 0 0