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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 149 0.20 4 6.2E-02
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 2 6 1.2E-02 2 5.4E-02
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		34 2 21 4.3E-02 2 5.4E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 4 8.2E-03 3 5.2E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 45 121 0.13 4 5.1E-02
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		5 4 2 4.2E-03 2 5.1E-02
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		20 4 7 1.4E-02 2 5.1E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 45 7.7E-02 3 5.0E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 44 8.3E-02 3 5.0E-02
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 21 4.0E-02 2 5.0E-02
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		12 6 3 6.2E-03 2 4.9E-02
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		8 6 8 1.7E-02 2 4.9E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 55 8.8E-02 3 4.8E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 64 9.2E-02 3 4.8E-02
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 8 27 4.7E-02 2 4.7E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 8 15 2.9E-02 2 4.7E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 9 74 0.14 2 4.5E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 93 0.12 3 4.3E-02
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 11 39 7.0E-02 2 4.3E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 42 7.8E-02 2 4.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 123 0.15 4 4.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 75 9.1E-02 3 4.1E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 46 7.2E-02 2 3.8E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		14 17 7 1.5E-02 2 3.8E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 10 1.8E-02 2 3.7E-02