|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
|
Disease
|
Known
|
Explain
|
155.76147
|
|
2
|
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1
|
Disease
|
Known
|
Explain
|
153.11933
|
|
3
|
autosomal recessive hypophosphatemic bone disease
|
Disease
|
Known
|
Explain
|
135.18451
|
|
4
|
Autosomal dominant hypophosphatemic rickets
|
Other
|
Known
|
Explain
|
134.34883
|
|
5
|
Familial hypophosphatemic bone disease
|
Disease
|
Known
|
Explain
|
90.70863
|
|
6
|
Hypophosphatemia
|
Disease
|
Inferred
|
Explain
|
37.50563
|
|
7
|
X- linked recessive
|
Disease
|
Inferred
|
Explain
|
19.06015
|
|
8
|
DMP1 gene
|
Gene
|
Inferred
|
Explain
|
15.17063
|
|
9
|
SLC34A3 gene
|
Gene
|
Inferred
|
Explain
|
11.74997
|
|
10
|
Hypercalciuria
|
Disease
|
Inferred
|
Explain
|
9.77722
|
|
11
|
CLCN5 gene
|
Gene
|
Inferred
|
Explain
|
8.75505
|
|
12
|
Vitamin D-resistant rickets
|
Disease
|
Inferred
|
Explain
|
6.89426
|
|
13
|
Familial hypophosphatemia
|
Disease
|
Inferred
|
Explain
|
2.30081
|
|
14
|
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
|
Disease
|
Inferred
|
Explain
|
2.13132
|
|
15
|
Phosphorus Metabolism Disorders
|
Disease
|
Inferred
|
Explain
|
1.15052
|
|
16
|
Rickets
|
Disease
|
Inferred
|
Explain
|
1.10650
|
|
17
|
HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
|
Disease
|
Inferred
|
Explain
|
1.02347
|
|
18
|
FGF23 gene
|
Gene
|
Inferred
|
Explain
|
0.83595
|
|
19
|
X-linked recessive nephrolithiasis with renal failure
|
Disease
|
Inferred
|
Explain
|
0.69506
|
|
20
|
RETINITIS PIGMENTOSA 6 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.64788
|
|
21
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.63461
|
|
22
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 (disorder)
|
Disease
|
Inferred
|
Explain
|
0.63461
|
|
23
|
X-linked dominant
|
Disease
|
Inferred
|
Explain
|
0.62280
|
|
24
|
Chondrodysplasia punctata, brachytelephalangic
|
Disease
|
Inferred
|
Explain
|
0.61909
|
|
25
|
EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE
|
Disease
|
Inferred
|
Explain
|
0.57613
|
|
26
|
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
|
Disease
|
Inferred
|
Explain
|
0.50106
|
|
27
|
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
|
Disease
|
Inferred
|
Explain
|
0.47027
|
|
28
|
SLC34A1 gene
|
Gene
|
Inferred
|
Explain
|
0.41943
|
|
29
|
COWCHOCK SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.37710
|
|
30
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
|
Disease
|
Inferred
|
Explain
|
0.36618
|
|
31
|
PHEX gene
|
Gene
|
Inferred
|
Explain
|
0.28299
|
|
32
|
Genetic Diseases, X-Linked
|
Disease
|
Inferred
|
Explain
|
0.26361
|
|
33
|
Vitamin D-dependent rickets
|
Disease
|
Inferred
|
Explain
|
0.24655
|
|
34
|
Hyperphosphatemia
|
Disease
|
Inferred
|
Explain
|
0.23580
|
|
35
|
Charcot-Marie-Tooth Disease
|
Disease
|
Inferred
|
Explain
|
0.18054
|
|
36
|
Foscarnet
|
Compound
|
Inferred
|
Explain
|
0.15883
|
|
37
|
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
|
Disease
|
Inferred
|
Explain
|
0.15364
|
|
38
|
Kidney
|
Other
|
Inferred
|
Explain
|
0.14965
|
|
39
|
Chondrodysplasia Punctata
|
Disease
|
Inferred
|
Explain
|
0.13977
|
|
40
|
HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
|
Disease
|
Inferred
|
Explain
|
0.10978
|
|
41
|
X-linked inheritance
|
Function
|
Inferred
|
Explain
|
0.09007
|
|
42
|
Familial idiopathic hypercalciuria
|
Other
|
Inferred
|
Explain
|
0.07284
|
|
43
|
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
|
Disease
|
Inferred
|
Explain
|
0.06542
|
|
44
|
Metal Metabolism, Inborn Errors
|
Disease
|
Inferred
|
Explain
|
0.06352
|
|
45
|
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
|
Disease
|
Inferred
|
Explain
|
0.06166
|
|
46
|
Metabolic Diseases
|
Disease
|
Inferred
|
Explain
|
0.06031
|
|
47
|
Renal Osteodystrophy
|
Disease
|
Inferred
|
Explain
|
0.06009
|
|
48
|
Chondrodysplasia punctata, X-linked dominant type
|
Disease
|
Inferred
|
Explain
|
0.06008
|
|
49
|
Bartter syndrome, antenatal , type 2
|
Disease
|
Inferred
|
Explain
|
0.05892
|
|
50
|
Bone Diseases, Metabolic
|
Disease
|
Inferred
|
Explain
|
0.05887
|
|
51
|
Bartter syndrome, antenatal type 1
|
Disease
|
Inferred
|
Explain
|
0.05792
|
|
52
|
Renal Tubular Transport, Inborn Errors
|
Disease
|
Inferred
|
Explain
|
0.05728
|
|
53
|
Dent disease 1
|
Disease
|
Inferred
|
Explain
|
0.05622
|
|
54
|
Vitamin D Deficiency
|
Disease
|
Inferred
|
Explain
|
0.05619
|
|
55
|
Nephrolithiasis
|
Disease
|
Inferred
|
Explain
|
0.05151
|
|
56
|
Calcium Metabolism Disorders
|
Disease
|
Inferred
|
Explain
|
0.05011
|
|
57
|
Renal Failure Adverse Event
|
Disease
|
Inferred
|
Explain
|
0.04955
|
|
58
|
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
|
Disease
|
Inferred
|
Explain
|
0.04664
|
|
59
|
Urolithiasis
|
Disease
|
Inferred
|
Explain
|
0.04652
|
|
60
|
Primary hypomagnesemia (disorder)
|
Disease
|
Inferred
|
Explain
|
0.04503
|
|
61
|
Urological Manifestations
|
Disease
|
Inferred
|
Explain
|
0.04495
|
|
62
|
Hypouricemia
|
Disease
|
Inferred
|
Explain
|
0.04317
|
|
63
|
Chloride channel CLC-5
|
Domain
|
Inferred
|
Explain
|
0.04271
|
|
64
|
Dentin matrix 1
|
Domain
|
Inferred
|
Explain
|
0.04088
|
|
65
|
ARSE gene
|
Gene
|
Inferred
|
Explain
|
0.03881
|
|
66
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
Disease
|
Inferred
|
Explain
|
0.03732
|
|
67
|
Spinal Muscular Atrophy
|
Disease
|
Inferred
|
Explain
|
0.03345
|
|
68
|
Chloride channel, voltage gated
|
Domain
|
Inferred
|
Explain
|
0.03253
|
|
69
|
NDP gene
|
Gene
|
Inferred
|
Explain
|
0.03229
|
|
70
|
Chloride channel, core
|
Domain
|
Inferred
|
Explain
|
0.03162
|
|
71
|
Periventricular Heterotopia, X-Linked
|
Disease
|
Inferred
|
Explain
|
0.02649
|
|
72
|
Kidney Failure
|
Disease
|
Inferred
|
Explain
|
0.02594
|
|
73
|
voltage-gated chloride channel activity
|
Function
|
Inferred
|
Explain
|
0.02550
|
|
74
|
Furosemide
|
Compound
|
Inferred
|
Explain
|
0.02517
|
|
75
|
Goiter
|
Disease
|
Inferred
|
Explain
|
0.02130
|
|
76
|
cellular phosphate ion homeostasis
|
Function
|
Inferred
|
Explain
|
0.02089
|
|
77
|
sodium-dependent phosphate transmembrane transporter activity
|
Function
|
Inferred
|
Explain
|
0.02036
|
|
78
|
Osteomalacia
|
Disease
|
Inferred
|
Explain
|
0.01953
|
|
79
|
extracellular matrix binding
|
Function
|
Inferred
|
Explain
|
0.01947
|
|
80
|
response to magnesium ion
|
Function
|
Inferred
|
Explain
|
0.01944
|
|
81
|
Retinitis Pigmentosa
|
Disease
|
Inferred
|
Explain
|
0.01922
|
|
82
|
Renal hypouricemia
|
Disease
|
Inferred
|
Explain
|
0.01855
|
|
83
|
Genticin
|
Compound
|
Inferred
|
Explain
|
0.01843
|
|
84
|
biomineral formation
|
Function
|
Inferred
|
Explain
|
0.01780
|
|
85
|
Cystathionine beta-synthase, core
|
Domain
|
Inferred
|
Explain
|
0.01424
|
|
86
|
positive regulation of cell-substrate adhesion
|
Function
|
Inferred
|
Explain
|
0.01418
|
|
87
|
RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION
|
Disease
|
Inferred
|
Explain
|
0.01388
|
|
88
|
Vitamin D-dependent rickets, type 1
|
Disease
|
Inferred
|
Explain
|
0.01327
|
|
89
|
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
|
Disease
|
Inferred
|
Explain
|
0.01308
|
|
90
|
chloride transport
|
Function
|
Inferred
|
Explain
|
0.01288
|
|
91
|
PTH gene
|
Gene
|
Inferred
|
Explain
|
0.01274
|
|
92
|
Polyuria
|
Disease
|
Inferred
|
Explain
|
0.01217
|
|
93
|
PTH1R gene
|
Gene
|
Inferred
|
Explain
|
0.01186
|
|
94
|
sodium:phosphate symporter activity
|
Function
|
Inferred
|
Explain
|
0.01183
|
|
95
|
Chondrodysplasia Punctata, Rhizomelic
|
Disease
|
Inferred
|
Explain
|
0.01131
|
|
96
|
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
|
Disease
|
Inferred
|
Explain
|
0.01055
|
|
97
|
Rhizomelic chondrodysplasia punctata, type 2
|
Disease
|
Inferred
|
Explain
|
0.01051
|
|
98
|
phosphate transport
|
Function
|
Inferred
|
Explain
|
0.01037
|
|
99
|
CFH gene
|
Gene
|
Inferred
|
Explain
|
0.01016
|
|
100
|
MAGI1 gene
|
Gene
|
Inferred
|
Explain
|
0.01002
|