|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Hypoalbuminemia
|
Disease
|
Known
|
Explain
|
53.95961
|
|
2
|
Oculovestibuloauditory syndrome
|
Disease
|
Known
|
Explain
|
35.55468
|
|
3
|
Early-onset
|
Disease
|
Known
|
Explain
|
19.45640
|
|
4
|
Ataxia as late effect of cerebrovascular disease
|
Disease
|
Known
|
Explain
|
17.60141
|
|
5
|
Ataxia
|
Disease
|
Known
|
Explain
|
17.07090
|
|
6
|
Cerebellar Ataxia
|
Disease
|
Known
|
Explain
|
16.03715
|
|
7
|
APTX gene
|
Gene
|
Known
|
Explain
|
10.69027
|
|
8
|
Wieacker-Wolff syndrome
|
Disease
|
Inferred
|
Explain
|
2.35563
|
|
9
|
Vestibulocochlear Nerve Diseases
|
Disease
|
Inferred
|
Explain
|
2.09734
|
|
10
|
Hypoproteinemia
|
Disease
|
Inferred
|
Explain
|
1.83506
|
|
11
|
Vasculitis
|
Disease
|
Inferred
|
Explain
|
0.99514
|
|
12
|
Harding ataxia
|
Disease
|
Inferred
|
Explain
|
0.77438
|
|
13
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.75055
|
|
14
|
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
0.72824
|
|
15
|
SPINOCEREBELLAR ATAXIA, X-LINKED 2
|
Disease
|
Inferred
|
Explain
|
0.62799
|
|
16
|
Episodic ataxia type 2 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.61769
|
|
17
|
Disorder of eye
|
Disease
|
Inferred
|
Explain
|
0.54393
|
|
18
|
SPINOCEREBELLAR ATAXIA 29
|
Disease
|
Inferred
|
Explain
|
0.49326
|
|
19
|
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
|
Disease
|
Inferred
|
Explain
|
0.43305
|
|
20
|
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT
|
Disease
|
Inferred
|
Explain
|
0.43305
|
|
21
|
EPISODIC ATAXIA, TYPE 4
|
Disease
|
Inferred
|
Explain
|
0.40752
|
|
22
|
ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE
|
Disease
|
Inferred
|
Explain
|
0.39341
|
|
23
|
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
|
Disease
|
Inferred
|
Explain
|
0.38954
|
|
24
|
SPINOCEREBELLAR ATAXIA 18
|
Disease
|
Inferred
|
Explain
|
0.38954
|
|
25
|
Erythrokeratodermia with ataxia
|
Disease
|
Inferred
|
Explain
|
0.38954
|
|
26
|
PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.38954
|
|
27
|
EPISODIC ATAXIA, TYPE 3
|
Disease
|
Inferred
|
Explain
|
0.36722
|
|
28
|
TAPETORETINAL DEGENERATION WITH ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.35042
|
|
29
|
Ataxia with vitamin E deficiency
|
Disease
|
Inferred
|
Explain
|
0.34970
|
|
30
|
MYOCLONUS AND ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.34817
|
|
31
|
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
|
Disease
|
Inferred
|
Explain
|
0.33694
|
|
32
|
ATAXIA WITH FASCICULATIONS
|
Disease
|
Inferred
|
Explain
|
0.33041
|
|
33
|
Spastic
|
Disease
|
Inferred
|
Explain
|
0.32146
|
|
34
|
Episodic ataxia type 1
|
Disease
|
Inferred
|
Explain
|
0.30746
|
|
35
|
Episodic ataxia
|
Disease
|
Inferred
|
Explain
|
0.30335
|
|
36
|
C1838914
|
Other
|
Inferred
|
Explain
|
0.29930
|
|
37
|
Alzheimer disease, familial, type 3
|
Disease
|
Inferred
|
Explain
|
0.29184
|
|
38
|
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION
|
Disease
|
Inferred
|
Explain
|
0.28945
|
|
39
|
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA
|
Disease
|
Inferred
|
Explain
|
0.28928
|
|
40
|
ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS
|
Disease
|
Inferred
|
Explain
|
0.28781
|
|
41
|
TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
|
Disease
|
Inferred
|
Explain
|
0.28632
|
|
42
|
MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS
|
Other
|
Inferred
|
Explain
|
0.28553
|
|
43
|
Ataxia, Spinocerebellar
|
Disease
|
Inferred
|
Explain
|
0.27860
|
|
44
|
PILI TORTI
|
Disease
|
Inferred
|
Explain
|
0.26639
|
|
45
|
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY
|
Disease
|
Inferred
|
Explain
|
0.26261
|
|
46
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
Disease
|
Inferred
|
Explain
|
0.25931
|
|
47
|
LEPROSY, SUSCEPTIBILITY TO, 4
|
Disease
|
Inferred
|
Explain
|
0.25833
|
|
48
|
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
Disease
|
Inferred
|
Explain
|
0.25446
|
|
49
|
Cataracts, ataxia, short stature, and mental retardation
|
Disease
|
Inferred
|
Explain
|
0.25440
|
|
50
|
NEPHROTIC SYNDROME, TYPE 3
|
Disease
|
Inferred
|
Explain
|
0.25078
|
|
51
|
CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT
|
Disease
|
Inferred
|
Explain
|
0.24755
|
|
52
|
Infantile onset spinocerebellar ataxia
|
Disease
|
Inferred
|
Explain
|
0.24600
|
|
53
|
Pyruvate Carboxylase Deficiency Disease
|
Disease
|
Inferred
|
Explain
|
0.24590
|
|
54
|
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
|
Disease
|
Inferred
|
Explain
|
0.24566
|
|
55
|
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE
|
Disease
|
Inferred
|
Explain
|
0.24019
|
|
56
|
SARCOIDOSIS, EARLY-ONSET
|
Disease
|
Inferred
|
Explain
|
0.23960
|
|
57
|
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5
|
Disease
|
Inferred
|
Explain
|
0.23749
|
|
58
|
HUNTINGTON DISEASE-LIKE 1
|
Disease
|
Inferred
|
Explain
|
0.23549
|
|
59
|
Pyruvate Dehydrogenase Complex Deficiency Disease
|
Disease
|
Inferred
|
Explain
|
0.22795
|
|
60
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
Disease
|
Inferred
|
Explain
|
0.22762
|
|
61
|
PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN
|
Disease
|
Inferred
|
Explain
|
0.22660
|
|
62
|
Waisman syndrome
|
Disease
|
Inferred
|
Explain
|
0.22520
|
|
63
|
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.22498
|
|
64
|
Retrocochlear Diseases
|
Disease
|
Inferred
|
Explain
|
0.22423
|
|
65
|
Welander Distal Myopathy
|
Disease
|
Inferred
|
Explain
|
0.21796
|
|
66
|
Milroy Disease
|
Disease
|
Inferred
|
Explain
|
0.21731
|
|
67
|
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
|
Disease
|
Inferred
|
Explain
|
0.21644
|
|
68
|
Corneal dystrophy, Fuchs' endothelial, 1
|
Disease
|
Inferred
|
Explain
|
0.21581
|
|
69
|
Dentatorubral-Pallidoluysian Atrophy
|
Disease
|
Inferred
|
Explain
|
0.21124
|
|
70
|
Congenital contractures
|
Other
|
Inferred
|
Explain
|
0.20711
|
|
71
|
Dysequilibrium syndrome
|
Disease
|
Inferred
|
Explain
|
0.20542
|
|
72
|
Apraxias
|
Disease
|
Inferred
|
Explain
|
0.20202
|
|
73
|
C1857783
|
Other
|
Inferred
|
Explain
|
0.19584
|
|
74
|
Rett Syndrome
|
Disease
|
Inferred
|
Explain
|
0.18776
|
|
75
|
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.17752
|
|
76
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.17517
|
|
77
|
Acoustic Neuroma
|
Disease
|
Inferred
|
Explain
|
0.17186
|
|
78
|
PROOPIOMELANOCORTIN DEFICIENCY
|
Disease
|
Inferred
|
Explain
|
0.16859
|
|
79
|
SPINOCEREBELLAR ATAXIA 27
|
Disease
|
Inferred
|
Explain
|
0.16357
|
|
80
|
CEREBELLAR ATAXIA, CAYMAN TYPE
|
Disease
|
Inferred
|
Explain
|
0.16192
|
|
81
|
CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA
|
Disease
|
Inferred
|
Explain
|
0.15827
|
|
82
|
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS
|
Disease
|
Inferred
|
Explain
|
0.15601
|
|
83
|
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
|
Disease
|
Inferred
|
Explain
|
0.15366
|
|
84
|
Mainzer-Saldino Disease
|
Disease
|
Inferred
|
Explain
|
0.15000
|
|
85
|
Vitelliform Macular Dystrophy
|
Disease
|
Inferred
|
Explain
|
0.14913
|
|
86
|
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
|
Disease
|
Inferred
|
Explain
|
0.14104
|
|
87
|
CAPOS syndrome
|
Disease
|
Inferred
|
Explain
|
0.13560
|
|
88
|
MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
|
Disease
|
Inferred
|
Explain
|
0.12691
|
|
89
|
CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
0.12091
|
|
90
|
Oculo-dento-digital syndrome
|
Disease
|
Inferred
|
Explain
|
0.11780
|
|
91
|
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY
|
Disease
|
Inferred
|
Explain
|
0.11746
|
|
92
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
|
Disease
|
Inferred
|
Explain
|
0.11047
|
|
93
|
Gait Ataxia
|
Disease
|
Inferred
|
Explain
|
0.09774
|
|
94
|
Dementia, familial Danish
|
Disease
|
Inferred
|
Explain
|
0.09469
|
|
95
|
Cranial nerve diseases
|
Disease
|
Inferred
|
Explain
|
0.08787
|
|
96
|
Contracture
|
Other
|
Inferred
|
Explain
|
0.08624
|
|
97
|
Paraparesis, Spastic
|
Disease
|
Inferred
|
Explain
|
0.08051
|
|
98
|
Muscular Atrophy
|
Disease
|
Inferred
|
Explain
|
0.06859
|
|
99
|
Myoclonus
|
Disease
|
Inferred
|
Explain
|
0.06757
|
|
100
|
Gerstmann-Straussler-Scheinker Disease
|
Disease
|
Inferred
|
Explain
|
0.06587
|