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: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 18 0.13 3 0.27
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		23 3 5 4.9E-02 2 0.20
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		10 3 2 2.2E-02 2 0.20
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 6 6 4.8E-02 2 0.15
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 8 4 2.2E-02 2 0.13
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 19 6.6E-02 3 0.12
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 10 2 2.0E-02 2 0.12
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		35 1 2 1.7E-02 1 0.11
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		6 1 1 1.1E-02 1 0.11
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter 		3 1 1 1.1E-02 1 0.11
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		5 1 3 3.4E-02 1 0.11
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 1 1 1.1E-02 1 0.11
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		14 1 2 2.1E-02 1 0.11
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		5 1 3 3.4E-02 1 0.11
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 1 4 4.4E-02 1 0.11
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum 		4 1 1 1.1E-02 1 0.11
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		5 1 2 2.3E-02 1 0.11
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		14 1 2 2.1E-02 1 0.11
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 1 1 1.0E-02 1 0.11
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 1 1 1.1E-02 1 0.11
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas 		5 1 1 1.1E-02 1 0.11
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 1 1 1.1E-02 1 0.11
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		4 1 1 1.1E-02 1 0.11
CUI: C4015948
Disease: OSTEOGENESIS IMPERFECTA, TYPE III/IV
OSTEOGENESIS IMPERFECTA, TYPE III/IV 		1 1 1 1.2E-02 1 0.11
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		6 1 1 1.1E-02 1 0.11