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: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 0 7 0.13 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 14 0.13 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 13 0.13 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 13 0.13 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 14 0.12 0 0
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		5 0 5 0.12 0 0
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		5 34 5 0.12 5 7.5E-02
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 1 5 0.12 1 2.6E-02
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 15 0.11 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 13 0.11 0 0
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		4 0 4 9.8E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 14 9.5E-02 0 0
CUI: C1832932
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) 		6 0 4 9.3E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 13 9.2E-02 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 13 8.7E-02 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 13 8.7E-02 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 16 8.3E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 13 8.2E-02 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 13 7.9E-02 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 14 7.7E-02 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 13 7.5E-02 0 0
CUI: C0282526
Disease: Hyperpipecolic Acidemia
Hyperpipecolic Acidemia 		3 0 3 7.3E-02 0 0
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		3 0 3 7.3E-02 0 0
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis 		3 0 3 7.3E-02 0 0
CUI: C3554366
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		4 0 3 7.1E-02 0 0