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: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 1 6.7E-02 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 1 5.6E-02 0 0
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		41 0 2 4.9E-02 0 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		21 0 1 4.5E-02 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		21 0 1 4.5E-02 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 1 4.5E-02 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 1 3.2E-02 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		31 0 1 3.1E-02 0 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 0 1 3.0E-02 0 0
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		33 0 1 2.9E-02 0 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 1 2.9E-02 0 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		35 0 1 2.8E-02 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 1 2.7E-02 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 1 2.4E-02 0 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 0 1 2.3E-02 0 0
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		43 0 1 2.3E-02 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 0 1 2.1E-02 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 1 1.9E-02 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		58 0 1 1.7E-02 0 0
CUI: C0221373
Disease: Claw hand
Claw hand 		63 0 1 1.6E-02 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 0 1 1.5E-02 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		75 0 1 1.3E-02 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.3E-02 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 1 1.3E-02 0 0
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		88 0 1 1.1E-02 0 0