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: C4023041
Disease: Parietal cortical atrophy
Parietal cortical atrophy 		2 0 2 0.50 0 0
CUI: C1849151
Disease: Hypermyelinated retinal nerve fibers
Hypermyelinated retinal nerve fibers 		1 0 1 0.25 0 0
CUI: C1849152
Disease: Swan neck-like deformities of the fingers
Swan neck-like deformities of the fingers 		1 0 1 0.25 0 0
CUI: C2750784
Disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) 		1 0 1 0.25 0 0
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		1 0 1 0.25 0 0
CUI: C3683483
Disease: Autosomal Recessive Cerebellar Ataxia Type 1
Autosomal Recessive Cerebellar Ataxia Type 1 		1 0 1 0.25 0 0
CUI: C4023121
Disease: Abnormality of the cerebellar peduncle
Abnormality of the cerebellar peduncle 		1 0 1 0.25 0 0
CUI: C4024899
Disease: Atrophy/Degeneration affecting the central nervous system
Atrophy/Degeneration affecting the central nervous system 		1 0 1 0.25 0 0
CUI: C4707155
Disease: Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive myogenic arthrogryposis multiplex congenita 		1 0 1 0.25 0 0
CUI: C4747646
Disease: LYMPHATIC MALFORMATION 3
LYMPHATIC MALFORMATION 3 		1 0 1 0.25 0 0
CUI: C4748158
Disease: SPINOCEREBELLAR ATAXIA 48
SPINOCEREBELLAR ATAXIA 48 		1 0 1 0.25 0 0
CUI: C1849143
Disease: Progressive truncal ataxia
Progressive truncal ataxia 		2 0 1 0.20 0 0
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		2 0 1 0.20 0 0
CUI: C1969462
Disease: Demyelinating motor neuropathy
Demyelinating motor neuropathy 		2 0 1 0.20 0 0
CUI: C2609040
Disease: Cerebellar cognitive affective syndrome
Cerebellar cognitive affective syndrome 		2 0 1 0.20 0 0
CUI: C4749302
Disease: Maternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1 		2 0 1 0.20 0 0
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		10 0 2 0.17 0 0
CUI: C3151619
Disease: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 		3 0 1 0.17 0 0
CUI: C4021221
Disease: Impaired tactile sensation
Impaired tactile sensation 		3 0 1 0.17 0 0
CUI: C4021754
Disease: Abnormality of the sella turcica
Abnormality of the sella turcica 		3 0 1 0.17 0 0
CUI: C0235439
Disease: Ankle edema (finding)
Ankle edema (finding) 		4 0 1 0.14 0 0
CUI: C1837355
Disease: Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 2 		4 0 1 0.14 0 0
CUI: C4021577
Disease: Abnormality of somatosensory evoked potentials
Abnormality of somatosensory evoked potentials 		4 0 1 0.14 0 0
CUI: C1861736
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder)
SPINOCEREBELLAR ATAXIA 31 (disorder) 		13 0 2 0.13 0 0
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		5 0 1 0.12 0 0