Source: CLINVAR ×
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: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		1 1 1 1.00 1 1.00
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		2 2 1 0.50 1 0.50
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 3 1 0.33 1 0.33
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		4 4 1 0.25 1 0.25
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		5 5 1 0.20 1 0.20
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 9 1 0.14 1 0.11
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		8 9 1 0.12 1 0.11
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		9 9 1 0.11 1 0.11
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		9 15 1 0.11 1 6.7E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		10 10 1 1.0E-01 1 1.0E-01
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		11 13 1 9.1E-02 1 7.7E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 17 1 8.3E-02 1 5.9E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		17 21 1 5.9E-02 1 4.8E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 5.3E-02 1 2.9E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 1 4.8E-02 1 3.7E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 1 4.3E-02 1 4.0E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 1 3.2E-02 1 2.6E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 1 3.0E-02 1 2.0E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 1 2.4E-02 1 1.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 1 2.3E-02 1 2.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 1 1.6E-02 1 1.2E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 1 1.1E-02 1 3.9E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 1 8.1E-03 1 5.2E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 1 7.8E-03 1 6.1E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.3E-03 1 4.1E-03