Source: CURATED ×
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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0 58 0 0 2 1.3E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0 19 0 0 1 8.9E-03
CUI: C0009806
Disease: Constipation
Constipation 		0 49 0 0 1 7.0E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0 24 0 0 2 1.7E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0 39 0 0 1 7.6E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0 42 0 0 1 7.4E-03
CUI: C0013528
Disease: Echolalia
Echolalia 		0 2 0 0 1 1.1E-02
CUI: C0018681
Disease: Headache
Headache 		0 51 0 0 1 6.9E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0 318 0 0 1 2.4E-03
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0 4 0 0 1 1.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0 52 0 0 2 1.4E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0 93 0 0 2 1.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0 579 0 0 2 3.0E-03
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0 10 0 0 1 9.7E-03
CUI: C0027092
Disease: Myopia
Myopia 		0 104 0 0 1 5.1E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0 83 0 0 2 1.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0 120 0 0 1 4.7E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0 62 0 0 1 6.5E-03
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0 25 0 0 2 1.7E-02
CUI: C0043094
Disease: Weight Gain
Weight Gain 		0 12 0 0 1 9.5E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0 27 0 0 1 8.3E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0 19 0 0 2 1.8E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0 26 0 0 1 8.4E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0 18 0 0 1 9.0E-03
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0 14 0 0 1 9.3E-03