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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 62 0.24 3 0.16
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 36 0.22 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 30 0.21 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 41 0.20 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 29 0.20 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 36 0.20 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 38 0.19 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 37 0.19 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 40 0.19 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 32 0.19 0 0
CUI: C1836047
Disease: Long face
Long face 		182 12 49 0.18 2 8.3E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 35 0.17 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 41 0.16 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 40 0.16 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 31 0.16 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 28 0.15 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 48 0.15 2 6.5E-02
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 22 0.15 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 82 0.15 4 5.4E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 34 0.15 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 57 0.15 1 2.9E-02
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 29 0.14 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 17 28 0.14 1 3.3E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 28 0.14 3 0.14
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 30 0.14 0 0