|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Hypophosphatemic Rickets
|
Disease
|
Known
|
Explain
|
286.60992
|
|
2
|
SLC34A3 gene
|
Gene
|
Known
|
Explain
|
176.89422
|
|
3
|
Hypercalciuria
|
Disease
|
Known
|
Explain
|
151.21710
|
|
4
|
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1
|
Disease
|
Inferred
|
Explain
|
8.17665
|
|
5
|
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
|
Disease
|
Inferred
|
Explain
|
8.13583
|
|
6
|
Autosomal dominant hypophosphatemic rickets
|
Other
|
Inferred
|
Explain
|
7.48152
|
|
7
|
Familial hypophosphatemic bone disease
|
Disease
|
Inferred
|
Explain
|
5.34085
|
|
8
|
Hypophosphatemia
|
Disease
|
Inferred
|
Explain
|
2.56489
|
|
9
|
HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
|
Disease
|
Inferred
|
Explain
|
2.27902
|
|
10
|
Familial idiopathic hypercalciuria
|
Other
|
Inferred
|
Explain
|
1.38866
|
|
11
|
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
|
Disease
|
Inferred
|
Explain
|
1.24297
|
|
12
|
X- linked recessive
|
Disease
|
Inferred
|
Explain
|
1.19595
|
|
13
|
Bartter syndrome, antenatal , type 2
|
Disease
|
Inferred
|
Explain
|
1.16957
|
|
14
|
Bartter syndrome, antenatal type 1
|
Disease
|
Inferred
|
Explain
|
1.14681
|
|
15
|
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
|
Disease
|
Inferred
|
Explain
|
1.08655
|
|
16
|
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
|
Disease
|
Inferred
|
Explain
|
0.97019
|
|
17
|
Hypouricemia
|
Disease
|
Inferred
|
Explain
|
0.93088
|
|
18
|
DMP1 gene
|
Gene
|
Inferred
|
Explain
|
0.89880
|
|
19
|
Urological Manifestations
|
Disease
|
Inferred
|
Explain
|
0.76873
|
|
20
|
Primary hypomagnesemia (disorder)
|
Disease
|
Inferred
|
Explain
|
0.71222
|
|
21
|
CLCN5 gene
|
Gene
|
Inferred
|
Explain
|
0.62470
|
|
22
|
SLC34A1 gene
|
Gene
|
Inferred
|
Explain
|
0.61798
|
|
23
|
Vitamin D-resistant rickets
|
Disease
|
Inferred
|
Explain
|
0.51465
|
|
24
|
Furosemide
|
Compound
|
Inferred
|
Explain
|
0.37430
|
|
25
|
cellular phosphate ion homeostasis
|
Function
|
Inferred
|
Explain
|
0.34982
|
|
26
|
Renal hypouricemia
|
Disease
|
Inferred
|
Explain
|
0.32430
|
|
27
|
sodium-dependent phosphate transmembrane transporter activity
|
Function
|
Inferred
|
Explain
|
0.32287
|
|
28
|
Genticin
|
Compound
|
Inferred
|
Explain
|
0.30934
|
|
29
|
response to magnesium ion
|
Function
|
Inferred
|
Explain
|
0.30591
|
|
30
|
sodium:phosphate symporter activity
|
Function
|
Inferred
|
Explain
|
0.22117
|
|
31
|
Familial hypophosphatemia
|
Disease
|
Inferred
|
Explain
|
0.19040
|
|
32
|
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
|
Disease
|
Inferred
|
Explain
|
0.17855
|
|
33
|
ADCY10 gene
|
Gene
|
Inferred
|
Explain
|
0.17605
|
|
34
|
phosphate transport
|
Function
|
Inferred
|
Explain
|
0.17232
|
|
35
|
Hypokalemic alkalosis
|
Disease
|
Inferred
|
Explain
|
0.15597
|
|
36
|
Sodium
|
Compound
|
Inferred
|
Explain
|
0.15069
|
|
37
|
brush border membrane
|
Component
|
Inferred
|
Explain
|
0.13566
|
|
38
|
Kidney
|
Other
|
Inferred
|
Explain
|
0.13460
|
|
39
|
response to nutrient levels
|
Function
|
Inferred
|
Explain
|
0.12858
|
|
40
|
Bartter Disease
|
Disease
|
Inferred
|
Explain
|
0.11443
|
|
41
|
Phosphorus Metabolism Disorders
|
Disease
|
Inferred
|
Explain
|
0.10132
|
|
42
|
HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
|
Disease
|
Inferred
|
Explain
|
0.09929
|
|
43
|
Rickets
|
Disease
|
Inferred
|
Explain
|
0.09905
|
|
44
|
Nephrocalcinosis
|
Disease
|
Inferred
|
Explain
|
0.09747
|
|
45
|
PDZK1 gene
|
Gene
|
Inferred
|
Explain
|
0.08455
|
|
46
|
FGF23 gene
|
Gene
|
Inferred
|
Explain
|
0.06868
|
|
47
|
Hyperparathyroidism
|
Disease
|
Inferred
|
Explain
|
0.05696
|
|
48
|
HYPOMAGNESEMIA
|
Disease
|
Inferred
|
Explain
|
0.05397
|
|
49
|
X-linked recessive nephrolithiasis with renal failure
|
Disease
|
Inferred
|
Explain
|
0.05254
|
|
50
|
X-linked dominant
|
Disease
|
Inferred
|
Explain
|
0.05008
|
|
51
|
symporter activity
|
Function
|
Inferred
|
Explain
|
0.04763
|
|
52
|
Chondrodysplasia punctata, brachytelephalangic
|
Disease
|
Inferred
|
Explain
|
0.04354
|
|
53
|
RETINITIS PIGMENTOSA 6 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.04350
|
|
54
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.04298
|
|
55
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.04298
|
|
56
|
EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE
|
Disease
|
Inferred
|
Explain
|
0.03890
|
|
57
|
sodium ion transport
|
Function
|
Inferred
|
Explain
|
0.03699
|
|
58
|
Proteinuria
|
Disease
|
Inferred
|
Explain
|
0.03583
|
|
59
|
KCNJ1 gene
|
Gene
|
Inferred
|
Explain
|
0.03447
|
|
60
|
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
|
Disease
|
Inferred
|
Explain
|
0.03401
|
|
61
|
Apical plasma membrane
|
Component
|
Inferred
|
Explain
|
0.03305
|
|
62
|
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
|
Disease
|
Inferred
|
Explain
|
0.03253
|
|
63
|
SLC22A12 gene
|
Gene
|
Inferred
|
Explain
|
0.03217
|
|
64
|
HYPOKALEMIA, FAMILIAL
|
Disease
|
Inferred
|
Explain
|
0.03207
|
|
65
|
phosphate ion homeostasis
|
Function
|
Inferred
|
Explain
|
0.03196
|
|
66
|
Polyuria
|
Disease
|
Inferred
|
Explain
|
0.03040
|
|
67
|
cellular di-, tri-valent inorganic anion homeostasis
|
Function
|
Inferred
|
Explain
|
0.03036
|
|
68
|
SLC34A2 gene
|
Gene
|
Inferred
|
Explain
|
0.02995
|
|
69
|
Proteinuria Adverse Event
|
Disease
|
Inferred
|
Explain
|
0.02830
|
|
70
|
COWCHOCK SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.02590
|
|
71
|
Hyperphosphatemia
|
Disease
|
Inferred
|
Explain
|
0.02558
|
|
72
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
|
Disease
|
Inferred
|
Explain
|
0.02524
|
|
73
|
Vitamin D-dependent rickets
|
Disease
|
Inferred
|
Explain
|
0.02435
|
|
74
|
PHEX gene
|
Gene
|
Inferred
|
Explain
|
0.02251
|
|
75
|
Urinary Incontinence
|
Disease
|
Inferred
|
Explain
|
0.02232
|
|
76
|
Orthophosphate
|
Compound
|
Inferred
|
Explain
|
0.02216
|
|
77
|
Genetic Diseases, X-Linked
|
Disease
|
Inferred
|
Explain
|
0.02166
|
|
78
|
SLC2A9 gene
|
Gene
|
Inferred
|
Explain
|
0.02061
|
|
79
|
Urination Disorders
|
Disease
|
Inferred
|
Explain
|
0.02044
|
|
80
|
Cytoplasmic Vesicles
|
Component
|
Inferred
|
Explain
|
0.01944
|
|
81
|
Ion Transport
|
Function
|
Inferred
|
Explain
|
0.01899
|
|
82
|
SLC12A1 gene
|
Gene
|
Inferred
|
Explain
|
0.01838
|
|
83
|
Oliguria
|
Disease
|
Inferred
|
Explain
|
0.01758
|
|
84
|
Renal Tubular Transport, Inborn Errors
|
Disease
|
Inferred
|
Explain
|
0.01572
|
|
85
|
Charcot-Marie-Tooth Disease
|
Disease
|
Inferred
|
Explain
|
0.01559
|
|
86
|
Transmembrane Transport
|
Function
|
Inferred
|
Explain
|
0.01538
|
|
87
|
Foscarnet
|
Compound
|
Inferred
|
Explain
|
0.01496
|
|
88
|
Overactive Bladder
|
Disease
|
Inferred
|
Explain
|
0.01490
|
|
89
|
Chondrodysplasia Punctata
|
Disease
|
Inferred
|
Explain
|
0.01269
|
|
90
|
Hyperparathyroidism, Secondary
|
Disease
|
Inferred
|
Explain
|
0.01180
|
|
91
|
di-, tri-valent inorganic anion homeostasis
|
Function
|
Inferred
|
Explain
|
0.01175
|
|
92
|
GCM2 gene
|
Gene
|
Inferred
|
Explain
|
0.01107
|
|
93
|
CLDN19 gene
|
Gene
|
Inferred
|
Explain
|
0.01051
|
|
94
|
Renal Osteodystrophy
|
Disease
|
Inferred
|
Explain
|
0.01013
|
|
95
|
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
|
Disease
|
Inferred
|
Explain
|
0.01000
|
|
96
|
Hypercalcemia
|
Disease
|
Inferred
|
Explain
|
0.00976
|
|
97
|
X-linked inheritance
|
Function
|
Inferred
|
Explain
|
0.00869
|
|
98
|
Hypomagnesemia 2, renal
|
Disease
|
Inferred
|
Explain
|
0.00848
|
|
99
|
Dietary Magnesium
|
Compound
|
Inferred
|
Explain
|
0.00848
|
|
100
|
SLC17A7 gene
|
Gene
|
Inferred
|
Explain
|
0.00811
|