|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Thermosensing
|
Function
|
Known
|
Explain
|
589.68883
|
|
2
|
Cerebellar Ataxia
|
Disease
|
Known
|
Explain
|
158.80185
|
|
3
|
sensory perception of temperature stimulus
|
Function
|
Inferred
|
Explain
|
8.01081
|
|
4
|
TRPM8 gene
|
Gene
|
Inferred
|
Explain
|
3.52074
|
|
5
|
Esthesia
|
Function
|
Inferred
|
Explain
|
3.07807
|
|
6
|
TRPA1 gene
|
Gene
|
Inferred
|
Explain
|
1.82526
|
|
7
|
TRPV1 gene
|
Gene
|
Inferred
|
Explain
|
0.83313
|
|
8
|
Dysequilibrium syndrome
|
Disease
|
Inferred
|
Explain
|
0.83132
|
|
9
|
C1857783
|
Other
|
Inferred
|
Explain
|
0.76807
|
|
10
|
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.67011
|
|
11
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.64650
|
|
12
|
CEREBELLAR ATAXIA, CAYMAN TYPE
|
Disease
|
Inferred
|
Explain
|
0.61814
|
|
13
|
Ataxia, Spinocerebellar
|
Disease
|
Inferred
|
Explain
|
0.61789
|
|
14
|
SPINOCEREBELLAR ATAXIA 27
|
Disease
|
Inferred
|
Explain
|
0.61301
|
|
15
|
Harding ataxia
|
Disease
|
Inferred
|
Explain
|
0.61110
|
|
16
|
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
|
Disease
|
Inferred
|
Explain
|
0.59607
|
|
17
|
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
|
Disease
|
Inferred
|
Explain
|
0.58810
|
|
18
|
Mainzer-Saldino Disease
|
Disease
|
Inferred
|
Explain
|
0.58713
|
|
19
|
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS
|
Disease
|
Inferred
|
Explain
|
0.58329
|
|
20
|
SPINOCEREBELLAR ATAXIA, X-LINKED 2
|
Disease
|
Inferred
|
Explain
|
0.52707
|
|
21
|
CAPOS syndrome
|
Disease
|
Inferred
|
Explain
|
0.51083
|
|
22
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.49725
|
|
23
|
CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
0.49586
|
|
24
|
Oculo-dento-digital syndrome
|
Disease
|
Inferred
|
Explain
|
0.46280
|
|
25
|
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
0.45728
|
|
26
|
SPINOCEREBELLAR ATAXIA 29
|
Disease
|
Inferred
|
Explain
|
0.45581
|
|
27
|
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY
|
Disease
|
Inferred
|
Explain
|
0.43795
|
|
28
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
|
Disease
|
Inferred
|
Explain
|
0.41969
|
|
29
|
MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
|
Disease
|
Inferred
|
Explain
|
0.41569
|
|
30
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
Disease
|
Inferred
|
Explain
|
0.36503
|
|
31
|
Episodic ataxia type 2 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.34842
|
|
32
|
Dementia, familial Danish
|
Disease
|
Inferred
|
Explain
|
0.33354
|
|
33
|
Ataxia
|
Disease
|
Inferred
|
Explain
|
0.31376
|
|
34
|
Early-onset
|
Disease
|
Inferred
|
Explain
|
0.27214
|
|
35
|
Gerstmann-Straussler-Scheinker Disease
|
Disease
|
Inferred
|
Explain
|
0.23377
|
|
36
|
Peripheral motor neuropathy
|
Disease
|
Inferred
|
Explain
|
0.22905
|
|
37
|
Cerebellar Diseases
|
Disease
|
Inferred
|
Explain
|
0.22835
|
|
38
|
Paraparesis, Spastic
|
Disease
|
Inferred
|
Explain
|
0.21610
|
|
39
|
ATCAY gene
|
Gene
|
Inferred
|
Explain
|
0.17467
|
|
40
|
SCN8A gene
|
Gene
|
Inferred
|
Explain
|
0.14865
|
|
41
|
Ataxia as late effect of cerebrovascular disease
|
Disease
|
Inferred
|
Explain
|
0.13431
|
|
42
|
FGF14 gene
|
Gene
|
Inferred
|
Explain
|
0.12941
|
|
43
|
HHG gene
|
Gene
|
Inferred
|
Explain
|
0.11539
|
|
44
|
Physiological Processes
|
Function
|
Inferred
|
Explain
|
0.10892
|
|
45
|
Polymicrogyria
|
Other
|
Inferred
|
Explain
|
0.10509
|
|
46
|
Primary hypogonadism
|
Disease
|
Inferred
|
Explain
|
0.10449
|
|
47
|
FUNDUS ALBIPUNCTATUS
|
Disease
|
Inferred
|
Explain
|
0.10273
|
|
48
|
Sensorineural Hearing Loss (disorder)
|
Disease
|
Inferred
|
Explain
|
0.08655
|
|
49
|
Allanson Pantzar McLeod syndrome
|
Other
|
Inferred
|
Explain
|
0.05469
|
|
50
|
Mental Retardation
|
Disease
|
Inferred
|
Explain
|
0.05177
|
|
51
|
Optic Atrophy
|
Disease
|
Inferred
|
Explain
|
0.04882
|
|
52
|
C1850339
|
Other
|
Inferred
|
Explain
|
0.04659
|
|
53
|
CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.04160
|
|
54
|
GPR56 gene
|
Gene
|
Inferred
|
Explain
|
0.04089
|
|
55
|
Aplasia, NOS
|
Disease
|
Inferred
|
Explain
|
0.04008
|
|
56
|
Nonprogressive
|
Disease
|
Inferred
|
Explain
|
0.03539
|
|
57
|
CEREBELLAR HYPOPLASIA
|
Other
|
Inferred
|
Explain
|
0.03519
|
|
58
|
Arima syndrome
|
Disease
|
Inferred
|
Explain
|
0.03285
|
|
59
|
Complete Hearing Loss
|
Disease
|
Inferred
|
Explain
|
0.03015
|
|
60
|
Deafness
|
Disease
|
Inferred
|
Explain
|
0.03014
|
|
61
|
Narcolepsy
|
Disease
|
Inferred
|
Explain
|
0.02591
|
|
62
|
Hypogonadotropic hypogonadism
|
Disease
|
Inferred
|
Explain
|
0.02557
|
|
63
|
Episodic ataxia
|
Disease
|
Inferred
|
Explain
|
0.02542
|
|
64
|
SCAR5 gene
|
Gene
|
Inferred
|
Explain
|
0.02298
|
|
65
|
Motor neuropathy peripheral with dysautonomia
|
Disease
|
Inferred
|
Explain
|
0.02075
|
|
66
|
Alzheimer disease, familial, type 3
|
Disease
|
Inferred
|
Explain
|
0.01950
|
|
67
|
Aniridia
|
Other
|
Inferred
|
Explain
|
0.01941
|
|
68
|
Paraparesis
|
Disease
|
Inferred
|
Explain
|
0.01693
|
|
69
|
magnetoreception
|
Function
|
Inferred
|
Explain
|
0.01610
|
|
70
|
ZNF592 gene
|
Gene
|
Inferred
|
Explain
|
0.01581
|
|
71
|
HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY
|
Disease
|
Inferred
|
Explain
|
0.01572
|
|
72
|
sensory perception of mechanical stimulus
|
Function
|
Inferred
|
Explain
|
0.01562
|
|
73
|
Nystagmus Adverse Event
|
Disease
|
Inferred
|
Explain
|
0.01562
|
|
74
|
GNRH1 gene
|
Gene
|
Inferred
|
Explain
|
0.01536
|
|
75
|
Nystagmus
|
Disease
|
Inferred
|
Explain
|
0.01489
|
|
76
|
SPASTIC PARAPARESIS AND DEAFNESS
|
Disease
|
Inferred
|
Explain
|
0.01379
|
|
77
|
Meckel-Gruber syndrome
|
Other
|
Inferred
|
Explain
|
0.01370
|
|
78
|
VLDLR gene
|
Gene
|
Inferred
|
Explain
|
0.01356
|
|
79
|
Cerebral Amyloid Angiopathy
|
Disease
|
Inferred
|
Explain
|
0.01344
|
|
80
|
SPASTIC PARAPLEGIA 23 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.01316
|
|
81
|
Bork Stender Schmidt syndrome
|
Disease
|
Inferred
|
Explain
|
0.01315
|
|
82
|
X-linked inheritance
|
Function
|
Inferred
|
Explain
|
0.01266
|
|
83
|
Myoclonus
|
Disease
|
Inferred
|
Explain
|
0.01205
|
|
84
|
Troyer syndrome
|
Disease
|
Inferred
|
Explain
|
0.01199
|
|
85
|
SYNE1 gene
|
Gene
|
Inferred
|
Explain
|
0.01163
|
|
86
|
Spinocerebellar Degeneration
|
Disease
|
Inferred
|
Explain
|
0.01153
|
|
87
|
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
Disease
|
Inferred
|
Explain
|
0.01143
|
|
88
|
sensory perception of electrical stimulus
|
Function
|
Inferred
|
Explain
|
0.01100
|
|
89
|
Menthol
|
Compound
|
Inferred
|
Explain
|
0.01092
|
|
90
|
C1855857
|
Other
|
Inferred
|
Explain
|
0.01073
|
|
91
|
GJA1 gene
|
Gene
|
Inferred
|
Explain
|
0.01059
|
|
92
|
Cerebral hemisphere structure (body structure)
|
Other
|
Inferred
|
Explain
|
0.01052
|
|
93
|
Infantile onset spinocerebellar ataxia
|
Disease
|
Inferred
|
Explain
|
0.01003
|
|
94
|
ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
0.00992
|
|
95
|
magnetoreception by sensory perception of electrical stimulus
|
Function
|
Inferred
|
Explain
|
0.00953
|
|
96
|
Touch sensation
|
Function
|
Inferred
|
Explain
|
0.00889
|
|
97
|
ITM2B gene
|
Gene
|
Inferred
|
Explain
|
0.00863
|
|
98
|
Malouf syndrome
|
Disease
|
Inferred
|
Explain
|
0.00830
|
|
99
|
Perisylvian syndrome
|
Other
|
Inferred
|
Explain
|
0.00787
|
|
100
|
Dysautonomia
|
Disease
|
Inferred
|
Explain
|
0.00779
|