|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Hypoalbuminemia
|
Disease
|
Known
|
Explain
|
172.85057
|
|
2
|
HYPOPROTEINEMIA, HYPERCATABOLIC
|
Disease
|
Known
|
Explain
|
156.87765
|
|
3
|
Mirex
|
Compound
|
Known
|
Explain
|
80.86697
|
|
4
|
Blood Protein Disorders
|
Disease
|
Known
|
Explain
|
64.45734
|
|
5
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
Disease
|
Inferred
|
Explain
|
35.37393
|
|
6
|
Furosemide
|
Compound
|
Known
|
Explain
|
29.35639
|
|
7
|
Hydrops Fetalis
|
Disease
|
Inferred
|
Explain
|
2.09135
|
|
8
|
Protein S Deficiency
|
Disease
|
Inferred
|
Explain
|
1.93797
|
|
9
|
Antithrombin III Deficiency
|
Disease
|
Inferred
|
Explain
|
1.81135
|
|
10
|
Hypergammaglobulinemia
|
Disease
|
Inferred
|
Explain
|
1.77548
|
|
11
|
Protein C Deficiency
|
Disease
|
Inferred
|
Explain
|
1.67587
|
|
12
|
B2M gene
|
Gene
|
Inferred
|
Explain
|
1.52752
|
|
13
|
Dysgammaglobulinemia
|
Disease
|
Inferred
|
Explain
|
1.49100
|
|
14
|
Oculovestibuloauditory syndrome
|
Disease
|
Inferred
|
Explain
|
1.36652
|
|
15
|
Paraproteinemias
|
Disease
|
Inferred
|
Explain
|
1.30450
|
|
16
|
Hypoglycemia
|
Disease
|
Inferred
|
Explain
|
1.03989
|
|
17
|
Agammaglobulinemia
|
Disease
|
Inferred
|
Explain
|
0.93971
|
|
18
|
Cataract
|
Other
|
Inferred
|
Explain
|
0.78150
|
|
19
|
Early-onset
|
Disease
|
Inferred
|
Explain
|
0.77795
|
|
20
|
Hyperlipidemia
|
Disease
|
Inferred
|
Explain
|
0.77610
|
|
21
|
Ataxia as late effect of cerebrovascular disease
|
Disease
|
Inferred
|
Explain
|
0.73373
|
|
22
|
Ataxia
|
Disease
|
Inferred
|
Explain
|
0.71430
|
|
23
|
Cerebellar Ataxia
|
Disease
|
Inferred
|
Explain
|
0.65091
|
|
24
|
SERPINA7 gene
|
Gene
|
Inferred
|
Explain
|
0.57376
|
|
25
|
Hematological Disease
|
Disease
|
Inferred
|
Explain
|
0.49305
|
|
26
|
Hydrocarbons, Chlorinated
|
Compound
|
Inferred
|
Explain
|
0.44152
|
|
27
|
Malignant neoplasm of skin
|
Disease
|
Inferred
|
Explain
|
0.43425
|
|
28
|
APTX gene
|
Gene
|
Inferred
|
Explain
|
0.40636
|
|
29
|
A2M gene
|
Gene
|
Inferred
|
Explain
|
0.24841
|
|
30
|
Monoclonal Gammopathy of Undetermined Significance
|
Disease
|
Inferred
|
Explain
|
0.22764
|
|
31
|
Malignant Neoplasms
|
Disease
|
Inferred
|
Explain
|
0.22379
|
|
32
|
Immunoproliferative Disorders
|
Disease
|
Inferred
|
Explain
|
0.21402
|
|
33
|
Hyperparathyroidism, Secondary
|
Disease
|
Inferred
|
Explain
|
0.19616
|
|
34
|
Bedwetting
|
Disease
|
Inferred
|
Explain
|
0.16559
|
|
35
|
Deficiency of mevalonate kinase
|
Disease
|
Inferred
|
Explain
|
0.15314
|
|
36
|
Hypotension, Orthostatic
|
Disease
|
Inferred
|
Explain
|
0.15122
|
|
37
|
Thrombophilia
|
Disease
|
Inferred
|
Explain
|
0.14911
|
|
38
|
Hypertension induced by pregnancy
|
Disease
|
Inferred
|
Explain
|
0.13046
|
|
39
|
Polyuria
|
Disease
|
Inferred
|
Explain
|
0.12578
|
|
40
|
Nephrocalcinosis
|
Disease
|
Inferred
|
Explain
|
0.12312
|
|
41
|
Hypercalcemia
|
Disease
|
Inferred
|
Explain
|
0.11095
|
|
42
|
Dyspnea
|
Disease
|
Inferred
|
Explain
|
0.10948
|
|
43
|
Primary hypomagnesemia (disorder)
|
Disease
|
Inferred
|
Explain
|
0.10557
|
|
44
|
Wieacker-Wolff syndrome
|
Disease
|
Inferred
|
Explain
|
0.09814
|
|
45
|
Hypotension
|
Disease
|
Inferred
|
Explain
|
0.09096
|
|
46
|
Sulfanilamides
|
Compound
|
Inferred
|
Explain
|
0.09047
|
|
47
|
Respiratory Distress Syndrome, Adult
|
Disease
|
Inferred
|
Explain
|
0.09000
|
|
48
|
Vestibulocochlear Nerve Diseases
|
Disease
|
Inferred
|
Explain
|
0.08640
|
|
49
|
Hypercalciuria
|
Disease
|
Inferred
|
Explain
|
0.08331
|
|
50
|
AR gene
|
Gene
|
Inferred
|
Explain
|
0.06246
|
|
51
|
Edema
|
Disease
|
Inferred
|
Explain
|
0.05441
|
|
52
|
hearing impairment
|
Disease
|
Inferred
|
Explain
|
0.04773
|
|
53
|
Vasculitis
|
Disease
|
Inferred
|
Explain
|
0.04426
|
|
54
|
Reperfusion Injury
|
Other
|
Inferred
|
Explain
|
0.04365
|
|
55
|
alpha-Thalassemia
|
Disease
|
Inferred
|
Explain
|
0.04275
|
|
56
|
Heart failure
|
Disease
|
Inferred
|
Explain
|
0.04253
|
|
57
|
REN gene
|
Gene
|
Inferred
|
Explain
|
0.04033
|
|
58
|
Blood Coagulation Disorders, Inherited
|
Disease
|
Inferred
|
Explain
|
0.03885
|
|
59
|
Signs and Symptoms
|
Disease
|
Inferred
|
Explain
|
0.03733
|
|
60
|
SLC22A7 gene
|
Gene
|
Inferred
|
Explain
|
0.03243
|
|
61
|
Harding ataxia
|
Disease
|
Inferred
|
Explain
|
0.03229
|
|
62
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.03221
|
|
63
|
Erythroblastosis, Fetal
|
Disease
|
Inferred
|
Explain
|
0.03196
|
|
64
|
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
0.03125
|
|
65
|
ABCC3 gene
|
Gene
|
Inferred
|
Explain
|
0.03042
|
|
66
|
Hyperimmunoglobulin M syndrome
|
Disease
|
Inferred
|
Explain
|
0.03021
|
|
67
|
Episodic ataxia type 2 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.02713
|
|
68
|
Lymphoproliferative Disorders
|
Disease
|
Inferred
|
Explain
|
0.02651
|
|
69
|
SPINOCEREBELLAR ATAXIA, X-LINKED 2
|
Disease
|
Inferred
|
Explain
|
0.02648
|
|
70
|
NPS R-467
|
Compound
|
Inferred
|
Explain
|
0.02550
|
|
71
|
Blood Coagulation Disorders
|
Disease
|
Inferred
|
Explain
|
0.02529
|
|
72
|
Disorder of eye
|
Disease
|
Inferred
|
Explain
|
0.02393
|
|
73
|
Kidney Diseases
|
Disease
|
Inferred
|
Explain
|
0.02184
|
|
74
|
SPINOCEREBELLAR ATAXIA 29
|
Disease
|
Inferred
|
Explain
|
0.02161
|
|
75
|
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
|
Disease
|
Inferred
|
Explain
|
0.01934
|
|
76
|
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT
|
Disease
|
Inferred
|
Explain
|
0.01934
|
|
77
|
UGT1A10 gene
|
Gene
|
Inferred
|
Explain
|
0.01874
|
|
78
|
Renal Osteodystrophy
|
Disease
|
Inferred
|
Explain
|
0.01850
|
|
79
|
UGT1A3 gene
|
Gene
|
Inferred
|
Explain
|
0.01815
|
|
80
|
EPISODIC ATAXIA, TYPE 4
|
Disease
|
Inferred
|
Explain
|
0.01806
|
|
81
|
Immunoglobulin A deficiency (disorder)
|
Disease
|
Inferred
|
Explain
|
0.01802
|
|
82
|
Heavy Chain Disease
|
Disease
|
Inferred
|
Explain
|
0.01800
|
|
83
|
EGF gene
|
Gene
|
Inferred
|
Explain
|
0.01793
|
|
84
|
ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE
|
Disease
|
Inferred
|
Explain
|
0.01766
|
|
85
|
EPISODIC ATAXIA, TYPE 3
|
Disease
|
Inferred
|
Explain
|
0.01763
|
|
86
|
UGT1A8 gene
|
Gene
|
Inferred
|
Explain
|
0.01726
|
|
87
|
Cryoglobulinemia
|
Disease
|
Inferred
|
Explain
|
0.01717
|
|
88
|
UGT1A7 gene
|
Gene
|
Inferred
|
Explain
|
0.01700
|
|
89
|
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
|
Disease
|
Inferred
|
Explain
|
0.01679
|
|
90
|
SPINOCEREBELLAR ATAXIA 18
|
Disease
|
Inferred
|
Explain
|
0.01679
|
|
91
|
Erythrokeratodermia with ataxia
|
Disease
|
Inferred
|
Explain
|
0.01679
|
|
92
|
PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.01679
|
|
93
|
Hereditary Autoinflammatory Diseases
|
Disease
|
Inferred
|
Explain
|
0.01644
|
|
94
|
Spastic
|
Disease
|
Inferred
|
Explain
|
0.01546
|
|
95
|
MYOCLONUS AND ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.01522
|
|
96
|
TAPETORETINAL DEGENERATION WITH ATAXIA
|
Disease
|
Inferred
|
Explain
|
0.01514
|
|
97
|
Ataxia with vitamin E deficiency
|
Disease
|
Inferred
|
Explain
|
0.01511
|
|
98
|
Immune System Diseases
|
Disease
|
Inferred
|
Explain
|
0.01498
|
|
99
|
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
|
Disease
|
Inferred
|
Explain
|
0.01466
|
|
100
|
ATAXIA WITH FASCICULATIONS
|
Disease
|
Inferred
|
Explain
|
0.01462
|