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: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		3 0 3 0.43 0 0
CUI: C0085649
Disease: Peripheral edema
Peripheral edema 		3 0 2 0.25 0 0
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		6 0 2 0.18 0 0
CUI: C0009765
Disease: Conjunctivitis, Acute Hemorrhagic
Conjunctivitis, Acute Hemorrhagic 		1 0 1 0.14 0 0
CUI: C0262665
Disease: Abnormal vocal cord morphology
Abnormal vocal cord morphology 		1 0 1 0.14 0 0
CUI: C1321325
Disease: Elliptical nystagmus
Elliptical nystagmus 		1 0 1 0.14 0 0
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		1 23 1 0.14 1 3.6E-02
CUI: C1848735
Disease: Developmental delay, mild
Developmental delay, mild 		1 0 1 0.14 0 0
CUI: C1864929
Disease: Cerebellar atrophy, progressive
Cerebellar atrophy, progressive 		1 1 1 0.14 1 0.17
CUI: C2750027
Disease: Growth Hormone Deficiency With Pituitary Anomalies
Growth Hormone Deficiency With Pituitary Anomalies 		1 0 1 0.14 0 0
CUI: C2930844
Disease: Hypopituitarism and septooptic 'dysplasia'
Hypopituitarism and septooptic 'dysplasia' 		1 0 1 0.14 0 0
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		1 19 1 0.14 1 4.2E-02
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		1 37 1 0.14 3 7.5E-02
CUI: C3887784
Disease: Decreased urine output
Decreased urine output 		1 0 1 0.14 0 0
CUI: C4014488
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 		1 0 1 0.14 0 0
CUI: C4021216
Disease: EEG with persistent abnormal rhythmic activity
EEG with persistent abnormal rhythmic activity 		2 0 1 0.12 0 0
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		3 0 1 0.11 0 0
CUI: C4324406
Disease: Cerebral volume loss
Cerebral volume loss 		3 0 1 0.11 0 0
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 0 2 0.11 0 0
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		4 0 1 1.0E-01 0 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		4 0 1 1.0E-01 0 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		27 0 3 9.7E-02 0 0
CUI: C0342396
Disease: Idiopathic hypopituitarism
Idiopathic hypopituitarism 		5 0 1 9.1E-02 0 0
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
Pontocerebellar Hypoplasia Type 6 		5 0 1 9.1E-02 0 0
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		5 0 1 9.1E-02 0 0