|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Coagulation Protein Disorders
|
Disease
|
Known
|
Explain
|
78.10474
|
|
2
|
Blood Coagulation Disorders, Inherited
|
Disease
|
Known
|
Explain
|
58.93279
|
|
3
|
Hemorrhagic Disorders
|
Disease
|
Known
|
Explain
|
53.43018
|
|
4
|
F9 gene
|
Gene
|
Known
|
Explain
|
46.82956
|
|
5
|
Genetic Diseases, X-Linked
|
Disease
|
Known
|
Explain
|
29.52679
|
|
6
|
Hemophilia A
|
Disease
|
Inferred
|
Explain
|
2.38201
|
|
7
|
Factor VII Deficiency
|
Disease
|
Inferred
|
Explain
|
2.36187
|
|
8
|
Hypoprothrombinemias
|
Disease
|
Inferred
|
Explain
|
2.35796
|
|
9
|
Factor V Deficiency
|
Disease
|
Inferred
|
Explain
|
2.34514
|
|
10
|
Factor X Deficiency
|
Disease
|
Inferred
|
Explain
|
2.33016
|
|
11
|
Factor XI Deficiency
|
Disease
|
Inferred
|
Explain
|
2.31856
|
|
12
|
Factor XII Deficiency
|
Disease
|
Inferred
|
Explain
|
2.28303
|
|
13
|
Factor XIII Deficiency
|
Disease
|
Inferred
|
Explain
|
2.17065
|
|
14
|
Afibrinogenemia
|
Disease
|
Inferred
|
Explain
|
2.08063
|
|
15
|
von Willebrand Disease
|
Disease
|
Inferred
|
Explain
|
1.60892
|
|
16
|
Activated Protein C Resistance
|
Disease
|
Inferred
|
Explain
|
1.46889
|
|
17
|
Wiskott-Aldrich Syndrome
|
Disease
|
Inferred
|
Explain
|
1.09481
|
|
18
|
Blood Coagulation Disorders
|
Disease
|
Inferred
|
Explain
|
0.89022
|
|
19
|
Thrombasthenia
|
Disease
|
Inferred
|
Explain
|
0.68617
|
|
20
|
Hermanski-Pudlak Syndrome
|
Disease
|
Inferred
|
Explain
|
0.58513
|
|
21
|
Bernard-Soulier Syndrome
|
Disease
|
Inferred
|
Explain
|
0.54454
|
|
22
|
Blood Platelet Disorders
|
Disease
|
Inferred
|
Explain
|
0.44820
|
|
23
|
Platelet Storage Pool Deficiency
|
Disease
|
Inferred
|
Explain
|
0.34057
|
|
24
|
Gray Platelet Syndrome
|
Disease
|
Inferred
|
Explain
|
0.28976
|
|
25
|
F7 gene
|
Gene
|
Inferred
|
Explain
|
0.28563
|
|
26
|
Disseminated Intravascular Coagulation
|
Disease
|
Inferred
|
Explain
|
0.27087
|
|
27
|
Thrombophilia
|
Disease
|
Inferred
|
Explain
|
0.23819
|
|
28
|
Antithrombin III Deficiency
|
Disease
|
Inferred
|
Explain
|
0.23668
|
|
29
|
Thrombocythemia, Essential
|
Disease
|
Inferred
|
Explain
|
0.23184
|
|
30
|
Protein C Deficiency
|
Disease
|
Inferred
|
Explain
|
0.22412
|
|
31
|
Vitamin K Deficiency
|
Disease
|
Inferred
|
Explain
|
0.22038
|
|
32
|
Waterhouse-Friderichsen Syndrome
|
Disease
|
Inferred
|
Explain
|
0.16981
|
|
33
|
Purpura, Thrombocytopenic, Idiopathic
|
Disease
|
Inferred
|
Explain
|
0.14823
|
|
34
|
F13B gene
|
Gene
|
Inferred
|
Explain
|
0.12899
|
|
35
|
F11 gene
|
Gene
|
Inferred
|
Explain
|
0.12630
|
|
36
|
Hereditary factor I deficiency disease
|
Disease
|
Inferred
|
Explain
|
0.12171
|
|
37
|
Hematological Disease
|
Disease
|
Inferred
|
Explain
|
0.11189
|
|
38
|
Androgen-Insensitivity Syndrome
|
Disease
|
Inferred
|
Explain
|
0.10185
|
|
39
|
Glycogen Storage Disease Type VIII
|
Disease
|
Inferred
|
Explain
|
0.09854
|
|
40
|
Ornithine carbamoyltransferase deficiency
|
Disease
|
Inferred
|
Explain
|
0.09841
|
|
41
|
Dyskeratosis Congenita
|
Disease
|
Inferred
|
Explain
|
0.09793
|
|
42
|
X-Linked Combined Immunodeficiency Diseases
|
Disease
|
Inferred
|
Explain
|
0.09286
|
|
43
|
F5 gene
|
Gene
|
Inferred
|
Explain
|
0.09037
|
|
44
|
Christ-Siemens-Touraine syndrome
|
Disease
|
Inferred
|
Explain
|
0.08988
|
|
45
|
Isolated Noncompaction of the Ventricular Myocardium
|
Disease
|
Inferred
|
Explain
|
0.08892
|
|
46
|
Focal Dermal Hypoplasia
|
Disease
|
Inferred
|
Explain
|
0.08717
|
|
47
|
F10 gene
|
Gene
|
Inferred
|
Explain
|
0.08610
|
|
48
|
Genetic Diseases, Inborn
|
Disease
|
Inferred
|
Explain
|
0.08589
|
|
49
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
Disease
|
Inferred
|
Explain
|
0.08402
|
|
50
|
Fabry Disease
|
Disease
|
Inferred
|
Explain
|
0.08371
|
|
51
|
Vascular Hemostatic Disorders
|
Disease
|
Inferred
|
Explain
|
0.08148
|
|
52
|
F2 gene
|
Gene
|
Inferred
|
Explain
|
0.08066
|
|
53
|
Ichthyosis, X-Linked
|
Disease
|
Inferred
|
Explain
|
0.07835
|
|
54
|
Choroideremia
|
Disease
|
Inferred
|
Explain
|
0.07789
|
|
55
|
F12 gene
|
Gene
|
Inferred
|
Explain
|
0.07567
|
|
56
|
Oculocerebrorenal Syndrome
|
Disease
|
Inferred
|
Explain
|
0.07550
|
|
57
|
Muscular Dystrophy, Duchenne
|
Disease
|
Inferred
|
Explain
|
0.07445
|
|
58
|
Muscular Dystrophy, Emery-Dreifuss
|
Disease
|
Inferred
|
Explain
|
0.07387
|
|
59
|
Granulomatous Disease, Chronic
|
Disease
|
Inferred
|
Explain
|
0.07247
|
|
60
|
Danon Disease
|
Disease
|
Inferred
|
Explain
|
0.07161
|
|
61
|
Pelizaeus-Merzbacher Disease
|
Disease
|
Inferred
|
Explain
|
0.07093
|
|
62
|
Lymphopenia
|
Disease
|
Inferred
|
Explain
|
0.07083
|
|
63
|
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
|
Disease
|
Inferred
|
Explain
|
0.06872
|
|
64
|
blood coagulation, extrinsic pathway
|
Function
|
Inferred
|
Explain
|
0.06791
|
|
65
|
3-Methylglutaconic aciduria type 2
|
Disease
|
Inferred
|
Explain
|
0.06653
|
|
66
|
F13A1 gene
|
Gene
|
Inferred
|
Explain
|
0.06533
|
|
67
|
FGA gene
|
Gene
|
Inferred
|
Explain
|
0.06504
|
|
68
|
COUMARIN RESISTANCE
|
Disease
|
Inferred
|
Explain
|
0.06337
|
|
69
|
FGB gene
|
Gene
|
Inferred
|
Explain
|
0.06069
|
|
70
|
F8 gene
|
Gene
|
Inferred
|
Explain
|
0.05731
|
|
71
|
CFI gene
|
Gene
|
Inferred
|
Explain
|
0.05512
|
|
72
|
Immunologic Deficiency Syndromes
|
Disease
|
Inferred
|
Explain
|
0.04804
|
|
73
|
blood coagulation, intrinsic pathway
|
Function
|
Inferred
|
Explain
|
0.04795
|
|
74
|
GGCX gene
|
Gene
|
Inferred
|
Explain
|
0.04567
|
|
75
|
Familial hypophosphatemic bone disease
|
Disease
|
Inferred
|
Explain
|
0.04459
|
|
76
|
coumarin
|
Compound
|
Inferred
|
Explain
|
0.04274
|
|
77
|
P2RX1 gene
|
Gene
|
Inferred
|
Explain
|
0.04177
|
|
78
|
Blood Protein Disorders
|
Disease
|
Inferred
|
Explain
|
0.04097
|
|
79
|
peptidyl-glutamic acid carboxylation
|
Function
|
Inferred
|
Explain
|
0.03921
|
|
80
|
PROC gene
|
Gene
|
Inferred
|
Explain
|
0.03436
|
|
81
|
HEMOPHILIA A WITH VASCULAR ABNORMALITY
|
Disease
|
Inferred
|
Explain
|
0.03413
|
|
82
|
Malnutrition
|
Disease
|
Inferred
|
Explain
|
0.03410
|
|
83
|
MTHFR gene
|
Gene
|
Inferred
|
Explain
|
0.02846
|
|
84
|
Golgi lumen
|
Component
|
Inferred
|
Explain
|
0.02824
|
|
85
|
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
|
Disease
|
Inferred
|
Explain
|
0.02764
|
|
86
|
Protein S Deficiency
|
Disease
|
Inferred
|
Explain
|
0.02688
|
|
87
|
VWF gene
|
Gene
|
Inferred
|
Explain
|
0.02630
|
|
88
|
Mental Retardation, X-Linked
|
Disease
|
Inferred
|
Explain
|
0.02573
|
|
89
|
Thrombocytosis
|
Disease
|
Inferred
|
Explain
|
0.02430
|
|
90
|
Ectodermal Dysplasia
|
Disease
|
Inferred
|
Explain
|
0.02272
|
|
91
|
AVPR2 gene
|
Gene
|
Inferred
|
Explain
|
0.02196
|
|
92
|
Complement and coagulation cascades - Homo sapiens (human)
|
Pathway
|
Inferred
|
Explain
|
0.02194
|
|
93
|
GP9 gene
|
Gene
|
Inferred
|
Explain
|
0.02145
|
|
94
|
GP1BA gene
|
Gene
|
Inferred
|
Explain
|
0.02142
|
|
95
|
Purpura
|
Disease
|
Inferred
|
Explain
|
0.02129
|
|
96
|
Blood Platelets
|
Other
|
Inferred
|
Explain
|
0.02052
|
|
97
|
von Willebrand Disease, Type 3
|
Disease
|
Inferred
|
Explain
|
0.01999
|
|
98
|
VON WILLEBRAND DISEASE, X-LINKED FORM
|
Disease
|
Inferred
|
Explain
|
0.01999
|
|
99
|
Von Willebrand disease, platelet type
|
Disease
|
Inferred
|
Explain
|
0.01964
|
|
100
|
von Willebrand Disease, Recessive Form
|
Disease
|
Inferred
|
Explain
|
0.01912
|