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: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 15 7.0E-02 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 15 7.0E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 26 7.0E-02 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 14 7.0E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 25 6.9E-02 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 21 6.9E-02 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 24 6.8E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 30 6.7E-02 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 23 6.7E-02 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 24 6.7E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 13 6.7E-02 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 22 6.6E-02 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 15 6.5E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 15 6.5E-02 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 21 6.5E-02 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 21 6.5E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 69 6.5E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 0 22 6.5E-02 0 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 0 11 6.4E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 13 6.4E-02 0 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		13 0 11 6.4E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 21 6.3E-02 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 20 6.3E-02 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 24 6.2E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 17 6.2E-02 0 0