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: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		282 21 14 3.2E-02 5 0.15
CUI: C4225236
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 		1 5 1 6.1E-03 4 0.22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 63 3.3E-02 3 5.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 29 2.7E-02 2 1.1E-02
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		2 18 2 1.2E-02 2 6.1E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 6 1.6E-02 1 2.7E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 46 4.7E-02 1 1.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 48 3.9E-02 1 2.4E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 40 6.5E-02 1 1.4E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 41 7.1E-02 1 8.8E-03
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 42 19 3.4E-02 1 1.7E-02
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 27 9 2.6E-02 1 2.3E-02
CUI: C0023882
Disease: Little's Disease
Little's Disease 		37 6 3 1.5E-02 1 4.5E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 20 3.1E-02 1 8.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 85 3.8E-02 1 1.8E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 9 1.5E-02 1 1.1E-02
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 15 5.1E-02 1 9.2E-03
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 41 17 6.3E-02 1 1.8E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 56 4.1E-02 1 7.8E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 7 1.6E-02 1 8.2E-03
CUI: C0456909
Disease: Blindness
Blindness 		393 34 17 3.1E-02 1 2.0E-02
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		21 13 12 6.9E-02 1 3.4E-02
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 13 4.0E-02 1 3.0E-02
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 2 1.1E-02 1 2.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 8 1.9E-02 1 1.1E-02