|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Bartter syndrome, antenatal type 1
|
Disease
|
Known
|
Explain
|
9.86022
|
|
2
|
sodium:potassium:chloride symporter activity
|
Function
|
Known
|
Explain
|
9.02575
|
|
3
|
chemical homeostasis
|
Function
|
Known
|
Explain
|
3.73043
|
|
4
|
OXSR1 gene
|
Gene
|
Known
|
Explain
|
3.23608
|
|
5
|
STK39 gene
|
Gene
|
Known
|
Explain
|
2.02831
|
|
6
|
Hypokalemic alkalosis
|
Disease
|
Inferred
|
Explain
|
1.75071
|
|
7
|
Excretory function
|
Function
|
Known
|
Explain
|
1.60999
|
|
8
|
kidney development
|
Function
|
Known
|
Explain
|
1.43929
|
|
9
|
chloride transport
|
Function
|
Known
|
Explain
|
1.18518
|
|
10
|
Bartter Disease
|
Disease
|
Inferred
|
Explain
|
1.15636
|
|
11
|
symporter activity
|
Function
|
Known
|
Explain
|
0.77475
|
|
12
|
Hypercalciuria
|
Disease
|
Inferred
|
Explain
|
0.76512
|
|
13
|
Apical plasma membrane
|
Component
|
Known
|
Explain
|
0.60134
|
|
14
|
sodium ion transport
|
Function
|
Known
|
Explain
|
0.57263
|
|
15
|
Bartter syndrome, antenatal , type 2
|
Disease
|
Inferred
|
Explain
|
0.57000
|
|
16
|
HYPOKALEMIA, FAMILIAL
|
Disease
|
Inferred
|
Explain
|
0.45209
|
|
17
|
potassium ion transport
|
Function
|
Known
|
Explain
|
0.42248
|
|
18
|
transporter activity
|
Function
|
Known
|
Explain
|
0.27745
|
|
19
|
membrane fraction
|
Component
|
Known
|
Explain
|
0.25047
|
|
20
|
Ion Transport
|
Function
|
Known
|
Explain
|
0.24362
|
|
21
|
cation:chloride symporter activity
|
Function
|
Inferred
|
Explain
|
0.21718
|
|
22
|
Transmembrane Transport
|
Function
|
Known
|
Explain
|
0.18797
|
|
23
|
SLC12A2 gene
|
Gene
|
Inferred
|
Explain
|
0.14579
|
|
24
|
Biological Transport
|
Function
|
Known
|
Explain
|
0.14024
|
|
25
|
KCNJ1 gene
|
Gene
|
Inferred
|
Explain
|
0.08837
|
|
26
|
Cell membrane
|
Component
|
Known
|
Explain
|
0.06267
|
|
27
|
Hypokalemia
|
Disease
|
Inferred
|
Explain
|
0.06173
|
|
28
|
Hyperaldosteronism
|
Disease
|
Inferred
|
Explain
|
0.05730
|
|
29
|
integral to membrane
|
Component
|
Known
|
Explain
|
0.04883
|
|
30
|
Bartter syndrome, type 3
|
Disease
|
Inferred
|
Explain
|
0.04473
|
|
31
|
HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
|
Disease
|
Inferred
|
Explain
|
0.04051
|
|
32
|
BARTTER SYNDROME, TYPE 4A
|
Disease
|
Inferred
|
Explain
|
0.03778
|
|
33
|
carbohydrate homeostasis
|
Function
|
Inferred
|
Explain
|
0.03177
|
|
34
|
gas homeostasis
|
Function
|
Inferred
|
Explain
|
0.02765
|
|
35
|
regulation of viral protein levels in host cell
|
Function
|
Inferred
|
Explain
|
0.02687
|
|
36
|
polyamine homeostasis
|
Function
|
Inferred
|
Explain
|
0.02631
|
|
37
|
Familial idiopathic hypercalciuria
|
Other
|
Inferred
|
Explain
|
0.02591
|
|
38
|
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
|
Disease
|
Inferred
|
Explain
|
0.02312
|
|
39
|
cellular chemical homeostasis
|
Function
|
Inferred
|
Explain
|
0.02250
|
|
40
|
chemical homeostasis within a tissue
|
Function
|
Inferred
|
Explain
|
0.02234
|
|
41
|
autosomal recessive hypophosphatemic bone disease
|
Disease
|
Inferred
|
Explain
|
0.02230
|
|
42
|
Renal Tubular Transport, Inborn Errors
|
Disease
|
Inferred
|
Explain
|
0.02133
|
|
43
|
water homeostasis
|
Function
|
Inferred
|
Explain
|
0.02019
|
|
44
|
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
|
Disease
|
Inferred
|
Explain
|
0.01903
|
|
45
|
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
|
Disease
|
Inferred
|
Explain
|
0.01756
|
|
46
|
Hypouricemia
|
Disease
|
Inferred
|
Explain
|
0.01581
|
|
47
|
ion homeostasis
|
Function
|
Inferred
|
Explain
|
0.01482
|
|
48
|
UMOD gene
|
Gene
|
Inferred
|
Explain
|
0.01448
|
|
49
|
Urological Manifestations
|
Disease
|
Inferred
|
Explain
|
0.01371
|
|
50
|
Primary hypomagnesemia (disorder)
|
Disease
|
Inferred
|
Explain
|
0.01352
|
|
51
|
SLC12A6 gene
|
Gene
|
Inferred
|
Explain
|
0.01304
|
|
52
|
REN gene
|
Gene
|
Inferred
|
Explain
|
0.01253
|
|
53
|
galactose homeostasis
|
Function
|
Inferred
|
Explain
|
0.01019
|
|
54
|
lipid homeostasis
|
Function
|
Inferred
|
Explain
|
0.01009
|
|
55
|
Glucocorticoid-remediable aldosteronism
|
Disease
|
Inferred
|
Explain
|
0.01006
|
|
56
|
Adrenal Gland Hyperfunction
|
Disease
|
Inferred
|
Explain
|
0.00995
|
|
57
|
SLC12A3 gene
|
Gene
|
Inferred
|
Explain
|
0.00980
|
|
58
|
homeostatic process
|
Function
|
Inferred
|
Explain
|
0.00979
|
|
59
|
SLC34A1 gene
|
Gene
|
Inferred
|
Explain
|
0.00974
|
|
60
|
CLCNKB gene
|
Gene
|
Inferred
|
Explain
|
0.00866
|
|
61
|
Genticin
|
Compound
|
Inferred
|
Explain
|
0.00823
|
|
62
|
Membrane
|
Component
|
Inferred
|
Explain
|
0.00794
|
|
63
|
IDUA gene
|
Gene
|
Inferred
|
Explain
|
0.00769
|
|
64
|
Furosemide
|
Compound
|
Inferred
|
Explain
|
0.00736
|
|
65
|
Na/K/Cl co-transporter superfamily
|
Domain
|
Inferred
|
Explain
|
0.00719
|
|
66
|
Dinoprostone
|
Compound
|
Inferred
|
Explain
|
0.00706
|
|
67
|
potassium:chloride symporter activity
|
Function
|
Inferred
|
Explain
|
0.00675
|
|
68
|
SLC34A3 gene
|
Gene
|
Inferred
|
Explain
|
0.00633
|
|
69
|
SLC12A4 gene
|
Gene
|
Inferred
|
Explain
|
0.00596
|
|
70
|
SLC12A7 gene
|
Gene
|
Inferred
|
Explain
|
0.00577
|
|
71
|
SLC12A5 gene
|
Gene
|
Inferred
|
Explain
|
0.00557
|
|
72
|
Renal hypouricemia
|
Disease
|
Inferred
|
Explain
|
0.00543
|
|
73
|
WNK4 gene
|
Gene
|
Inferred
|
Explain
|
0.00503
|
|
74
|
sodium:chloride symporter activity
|
Function
|
Inferred
|
Explain
|
0.00503
|
|
75
|
nitric oxide homeostasis
|
Function
|
Inferred
|
Explain
|
0.00484
|
|
76
|
cellular galactose homeostasis
|
Function
|
Inferred
|
Explain
|
0.00469
|
|
77
|
CLCNKA gene
|
Gene
|
Inferred
|
Explain
|
0.00464
|
|
78
|
Chloride channel, voltage gated
|
Domain
|
Inferred
|
Explain
|
0.00450
|
|
79
|
voltage-gated chloride channel activity
|
Function
|
Inferred
|
Explain
|
0.00372
|
|
80
|
SLC12A9 gene
|
Gene
|
Inferred
|
Explain
|
0.00369
|
|
81
|
CLCN5 gene
|
Gene
|
Inferred
|
Explain
|
0.00368
|
|
82
|
integral to plasma membrane
|
Component
|
Inferred
|
Explain
|
0.00357
|
|
83
|
voltage-gated ion channel activity
|
Function
|
Inferred
|
Explain
|
0.00356
|
|
84
|
ADCY10 gene
|
Gene
|
Inferred
|
Explain
|
0.00351
|
|
85
|
Hypophosphatemic Rickets
|
Disease
|
Inferred
|
Explain
|
0.00343
|
|
86
|
Gitelman Syndrome
|
Disease
|
Inferred
|
Explain
|
0.00340
|
|
87
|
Hypocalciuria
|
Disease
|
Inferred
|
Explain
|
0.00339
|
|
88
|
cellular water homeostasis
|
Function
|
Inferred
|
Explain
|
0.00335
|
|
89
|
oxygen homeostasis
|
Function
|
Inferred
|
Explain
|
0.00333
|
|
90
|
positive regulation of viral protein levels in host cell
|
Function
|
Inferred
|
Explain
|
0.00311
|
|
91
|
EIF5A2 gene
|
Gene
|
Inferred
|
Explain
|
0.00311
|
|
92
|
negative regulation of viral protein levels in host cell
|
Function
|
Inferred
|
Explain
|
0.00307
|
|
93
|
Neurotransmitter-gated ion-channel transmembrane region
|
Domain
|
Inferred
|
Explain
|
0.00301
|
|
94
|
Natriuresis
|
Function
|
Inferred
|
Explain
|
0.00300
|
|
95
|
chemical homeostasis within retina
|
Function
|
Inferred
|
Explain
|
0.00295
|
|
96
|
Chloride channel, core
|
Domain
|
Inferred
|
Explain
|
0.00292
|
|
97
|
voltage-gated potassium channel complex
|
Component
|
Inferred
|
Explain
|
0.00276
|
|
98
|
Neurotransmitter-gated ion-channel, conserved site
|
Domain
|
Inferred
|
Explain
|
0.00272
|
|
99
|
voltage-gated potassium channel activity
|
Function
|
Inferred
|
Explain
|
0.00268
|
|
100
|
Neurotransmitter-gated ion-channel ligand-binding
|
Domain
|
Inferred
|
Explain
|
0.00267
|