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: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 7 34 0.35 2 1.0E-02
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 29 0.30 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 34 0.28 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 33 0.27 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 35 0.26 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 6 37 0.25 1 5.2E-03
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 31 23 0.23 5 2.3E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 38 0.23 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 35 0.22 4 1.9E-02
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 28 0.20 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 38 25 0.20 12 5.6E-02
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 14 31 0.20 1 5.0E-03
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 30 0.20 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 19 0.19 86 0.42
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 35 0.17 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 29 0.17 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 7 48 0.17 2 1.0E-02
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 20 0.16 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 33 0.16 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 37 0.16 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 33 0.15 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 11 24 0.15 1 5.1E-03
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 29 0.14 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 35 0.14 4 1.8E-02
CUI: C1836047
Disease: Long face
Long face 		182 0 34 0.14 0 0