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: C1853241
Disease: Flat face
Flat face 		83 0 15 0.12 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 13 0.12 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 14 0.12 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 13 9.9E-02 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 0 7 9.9E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 13 9.3E-02 0 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		25 0 7 9.2E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 15 9.1E-02 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 17 9.1E-02 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 8 9.1E-02 1 2.6E-02
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		5 0 5 8.6E-02 0 0
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		5 0 5 8.6E-02 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 14 8.5E-02 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 21 8.5E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 17 8.5E-02 9 3.5E-02
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 13 8.3E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 13 8.2E-02 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 16 8.2E-02 1 2.2E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 16 8.1E-02 4 9.8E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 21 8.0E-02 3 6.8E-02
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 13 7.8E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 6 12 7.6E-02 1 4.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 20 7.4E-02 4 4.5E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 17 7.3E-02 2 2.9E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 13 7.2E-02 7 0.17