|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Apraxias
|
Disease
|
Known
|
Explain
|
87.65152
|
|
2
|
Paraparesis, Spastic
|
Disease
|
Known
|
Explain
|
57.40151
|
|
3
|
Early-onset
|
Disease
|
Known
|
Explain
|
28.84872
|
|
4
|
Alzheimer's Disease
|
Disease
|
Known
|
Explain
|
10.15650
|
|
5
|
Gait Apraxia
|
Disease
|
Inferred
|
Explain
|
8.95435
|
|
6
|
PSEN1 gene
|
Gene
|
Known
|
Explain
|
7.11235
|
|
7
|
Psychomotor Disorders
|
Disease
|
Inferred
|
Explain
|
5.72655
|
|
8
|
Wieacker-Wolff syndrome
|
Disease
|
Inferred
|
Explain
|
3.75695
|
|
9
|
Gait Disorders, Neurologic
|
Disease
|
Inferred
|
Explain
|
3.36531
|
|
10
|
Neurobehavioral Manifestations
|
Disease
|
Inferred
|
Explain
|
2.32751
|
|
11
|
FOXP2 gene
|
Gene
|
Inferred
|
Explain
|
1.28707
|
|
12
|
Paraparesis
|
Disease
|
Inferred
|
Explain
|
1.17985
|
|
13
|
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
|
Disease
|
Inferred
|
Explain
|
1.04389
|
|
14
|
SPASTIC PARAPLEGIA 23 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.91048
|
|
15
|
SPASTIC PARAPARESIS AND DEAFNESS
|
Disease
|
Inferred
|
Explain
|
0.88945
|
|
16
|
Troyer syndrome
|
Disease
|
Inferred
|
Explain
|
0.82042
|
|
17
|
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
Disease
|
Inferred
|
Explain
|
0.77744
|
|
18
|
Gait Ataxia
|
Disease
|
Inferred
|
Explain
|
0.67456
|
|
19
|
Paresis
|
Disease
|
Inferred
|
Explain
|
0.47049
|
|
20
|
Neurologic Manifestations
|
Disease
|
Inferred
|
Explain
|
0.26564
|
|
21
|
Spastic Paraplegia
|
Disease
|
Inferred
|
Explain
|
0.19543
|
|
22
|
PILI TORTI
|
Disease
|
Inferred
|
Explain
|
0.13075
|
|
23
|
Harding ataxia
|
Disease
|
Inferred
|
Explain
|
0.12048
|
|
24
|
LEPROSY, SUSCEPTIBILITY TO, 4
|
Disease
|
Inferred
|
Explain
|
0.11770
|
|
25
|
NEPHROTIC SYNDROME, TYPE 3
|
Disease
|
Inferred
|
Explain
|
0.11335
|
|
26
|
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
|
Disease
|
Inferred
|
Explain
|
0.11074
|
|
27
|
CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT
|
Disease
|
Inferred
|
Explain
|
0.11024
|
|
28
|
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5
|
Disease
|
Inferred
|
Explain
|
0.10901
|
|
29
|
SARCOIDOSIS, EARLY-ONSET
|
Disease
|
Inferred
|
Explain
|
0.10829
|
|
30
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
Disease
|
Inferred
|
Explain
|
0.10676
|
|
31
|
HUNTINGTON DISEASE-LIKE 1
|
Disease
|
Inferred
|
Explain
|
0.10622
|
|
32
|
Waisman syndrome
|
Disease
|
Inferred
|
Explain
|
0.10128
|
|
33
|
Milroy Disease
|
Disease
|
Inferred
|
Explain
|
0.09874
|
|
34
|
Welander Distal Myopathy
|
Disease
|
Inferred
|
Explain
|
0.09803
|
|
35
|
Corneal dystrophy, Fuchs' endothelial, 1
|
Disease
|
Inferred
|
Explain
|
0.09781
|
|
36
|
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
|
Disease
|
Inferred
|
Explain
|
0.09778
|
|
37
|
SPINOCEREBELLAR ATAXIA, X-LINKED 2
|
Disease
|
Inferred
|
Explain
|
0.09394
|
|
38
|
Childhood onset
|
Disease
|
Inferred
|
Explain
|
0.09049
|
|
39
|
Vitiligo
|
Disease
|
Inferred
|
Explain
|
0.08699
|
|
40
|
Cerebellar Ataxia
|
Disease
|
Inferred
|
Explain
|
0.08478
|
|
41
|
Congenital contractures
|
Other
|
Inferred
|
Explain
|
0.08445
|
|
42
|
SPINOCEREBELLAR ATAXIA 29
|
Disease
|
Inferred
|
Explain
|
0.08384
|
|
43
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
Disease
|
Inferred
|
Explain
|
0.07938
|
|
44
|
PROOPIOMELANOCORTIN DEFICIENCY
|
Disease
|
Inferred
|
Explain
|
0.07883
|
|
45
|
Agitation
|
Disease
|
Inferred
|
Explain
|
0.07744
|
|
46
|
Vitelliform Macular Dystrophy
|
Disease
|
Inferred
|
Explain
|
0.06991
|
|
47
|
Ataxia
|
Disease
|
Inferred
|
Explain
|
0.05694
|
|
48
|
Oculovestibuloauditory syndrome
|
Disease
|
Inferred
|
Explain
|
0.04671
|
|
49
|
SPG20 gene
|
Gene
|
Inferred
|
Explain
|
0.04342
|
|
50
|
Gastroesophageal reflux disease
|
Disease
|
Inferred
|
Explain
|
0.04024
|
|
51
|
Contracture
|
Other
|
Inferred
|
Explain
|
0.03624
|
|
52
|
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.02465
|
|
53
|
Pili torti developmental delay neurological abnormalities
|
Disease
|
Inferred
|
Explain
|
0.02449
|
|
54
|
Pili torti-deafness syndrome
|
Disease
|
Inferred
|
Explain
|
0.02254
|
|
55
|
Coronary Artery Disease
|
Disease
|
Inferred
|
Explain
|
0.01646
|
|
56
|
Foot
|
Other
|
Inferred
|
Explain
|
0.01644
|
|
57
|
Short stature
|
Disease
|
Inferred
|
Explain
|
0.01638
|
|
58
|
Muscular Atrophy
|
Disease
|
Inferred
|
Explain
|
0.01636
|
|
59
|
Parkinsonian Disorders
|
Disease
|
Inferred
|
Explain
|
0.01497
|
|
60
|
PSEN2 gene
|
Gene
|
Inferred
|
Explain
|
0.01473
|
|
61
|
Perceptual Disorders
|
Disease
|
Inferred
|
Explain
|
0.01460
|
|
62
|
Leprosy
|
Disease
|
Inferred
|
Explain
|
0.01412
|
|
63
|
Isotretinoin
|
Compound
|
Inferred
|
Explain
|
0.01386
|
|
64
|
Deafness
|
Disease
|
Inferred
|
Explain
|
0.01356
|
|
65
|
Complete Hearing Loss
|
Disease
|
Inferred
|
Explain
|
0.01352
|
|
66
|
Lethargy
|
Disease
|
Inferred
|
Explain
|
0.01239
|
|
67
|
Confusion
|
Disease
|
Inferred
|
Explain
|
0.01130
|
|
68
|
Diurnal fluctuation
|
Disease
|
Inferred
|
Explain
|
0.01021
|
|
69
|
Consciousness Disorders
|
Disease
|
Inferred
|
Explain
|
0.01004
|
|
70
|
Sarcoidosis
|
Disease
|
Inferred
|
Explain
|
0.00999
|
|
71
|
Communication impairment
|
Disease
|
Inferred
|
Explain
|
0.00999
|
|
72
|
NCSTN gene
|
Gene
|
Inferred
|
Explain
|
0.00996
|
|
73
|
2,3',4,4',5-pentachlorobiphenyl
|
Compound
|
Inferred
|
Explain
|
0.00955
|
|
74
|
Catatonia
|
Disease
|
Inferred
|
Explain
|
0.00871
|
|
75
|
Mental Retardation
|
Disease
|
Inferred
|
Explain
|
0.00844
|
|
76
|
Prion Diseases
|
Disease
|
Inferred
|
Explain
|
0.00822
|
|
77
|
PCB 156
|
Compound
|
Inferred
|
Explain
|
0.00790
|
|
78
|
COL8A2 gene
|
Gene
|
Inferred
|
Explain
|
0.00786
|
|
79
|
Nephrotic Syndrome
|
Disease
|
Inferred
|
Explain
|
0.00779
|
|
80
|
Coronary heart disease
|
Disease
|
Inferred
|
Explain
|
0.00776
|
|
81
|
smooth endoplasmic reticulum calcium ion homeostasis
|
Function
|
Inferred
|
Explain
|
0.00765
|
|
82
|
Lymphedema
|
Disease
|
Inferred
|
Explain
|
0.00756
|
|
83
|
Parkinson Disease
|
Disease
|
Inferred
|
Explain
|
0.00731
|
|
84
|
endoplasmic reticulum calcium ion homeostasis
|
Function
|
Inferred
|
Explain
|
0.00719
|
|
85
|
CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.00702
|
|
86
|
RAI1 gene
|
Gene
|
Inferred
|
Explain
|
0.00679
|
|
87
|
FLT4 gene
|
Gene
|
Inferred
|
Explain
|
0.00675
|
|
88
|
Aplasia, NOS
|
Disease
|
Inferred
|
Explain
|
0.00668
|
|
89
|
LTA gene
|
Gene
|
Inferred
|
Explain
|
0.00657
|
|
90
|
Cajal-Retzius cell differentiation
|
Function
|
Inferred
|
Explain
|
0.00644
|
|
91
|
Nonprogressive
|
Disease
|
Inferred
|
Explain
|
0.00642
|
|
92
|
Memory Disorders
|
Disease
|
Inferred
|
Explain
|
0.00634
|
|
93
|
BACE1 gene
|
Gene
|
Inferred
|
Explain
|
0.00622
|
|
94
|
CHRNA7 gene
|
Gene
|
Inferred
|
Explain
|
0.00619
|
|
95
|
APH1A gene
|
Gene
|
Inferred
|
Explain
|
0.00600
|
|
96
|
regulation of resting membrane potential
|
Function
|
Inferred
|
Explain
|
0.00595
|
|
97
|
PSENEN gene
|
Gene
|
Inferred
|
Explain
|
0.00566
|
|
98
|
membrane protein intracellular domain proteolysis
|
Function
|
Inferred
|
Explain
|
0.00566
|
|
99
|
Arima syndrome
|
Disease
|
Inferred
|
Explain
|
0.00560
|
|
100
|
Cataract Adverse Event
|
Disease
|
Inferred
|
Explain
|
0.00539
|