|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
X-linked inheritance
|
Function
|
Inferred
|
Explain
|
2.54675
|
|
2
|
Short stature
|
Disease
|
Inferred
|
Explain
|
0.48365
|
|
3
|
Microcephaly
|
Other
|
Inferred
|
Explain
|
0.37791
|
|
4
|
Dysequilibrium syndrome
|
Disease
|
Known
|
Explain
|
0.18368
|
|
5
|
Renpenning syndrome 1
|
Disease
|
Known
|
Explain
|
0.17022
|
|
6
|
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.16880
|
|
7
|
C1857783
|
Other
|
Known
|
Explain
|
0.16248
|
|
8
|
MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIA
|
Disease
|
Known
|
Explain
|
0.16022
|
|
9
|
Fountain syndrome
|
Disease
|
Known
|
Explain
|
0.15505
|
|
10
|
MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
|
Disease
|
Known
|
Explain
|
0.15411
|
|
11
|
Cutis verticis gyrata
|
Disease
|
Inferred
|
Explain
|
0.15088
|
|
12
|
CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.14935
|
|
13
|
CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY
|
Disease
|
Known
|
Explain
|
0.14935
|
|
14
|
GROWTH DEFICIENCY AND MENTAL RETARDATION WITH FACIAL DYSMORPHISM
|
Disease
|
Known
|
Explain
|
0.14304
|
|
15
|
SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.14291
|
|
16
|
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT
|
Disease
|
Known
|
Explain
|
0.13971
|
|
17
|
MORM syndrome
|
Disease
|
Known
|
Explain
|
0.13792
|
|
18
|
MENTAL RETARDATION, X-LINKED 2 (disorder)
|
Disease
|
Known
|
Explain
|
0.13747
|
|
19
|
MENTAL RETARDATION, X-LINKED 14
|
Disease
|
Known
|
Explain
|
0.13747
|
|
20
|
MENTAL RETARDATION, X-LINKED 20
|
Disease
|
Known
|
Explain
|
0.13747
|
|
21
|
MENTAL RETARDATION, X-LINKED 23
|
Disease
|
Known
|
Explain
|
0.13747
|
|
22
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 12
|
Disease
|
Known
|
Explain
|
0.13747
|
|
23
|
MENTAL RETARDATION, X-LINKED 78
|
Disease
|
Known
|
Explain
|
0.13747
|
|
24
|
MENTAL RETARDATION, X-LINKED 82
|
Disease
|
Known
|
Explain
|
0.13747
|
|
25
|
MENTAL RETARDATION, X-LINKED 84
|
Disease
|
Known
|
Explain
|
0.13747
|
|
26
|
MENTAL RETARDATION, X-LINKED 52
|
Disease
|
Known
|
Explain
|
0.13747
|
|
27
|
MENTAL RETARDATION, X-LINKED 77
|
Disease
|
Known
|
Explain
|
0.13747
|
|
28
|
MENTAL RETARDATION, X-LINKED 81
|
Disease
|
Known
|
Explain
|
0.13747
|
|
29
|
MENTAL RETARDATION, X-LINKED 42
|
Disease
|
Known
|
Explain
|
0.13747
|
|
30
|
MENTAL RETARDATION, X-LINKED 73
|
Disease
|
Known
|
Explain
|
0.13747
|
|
31
|
MENTAL RETARDATION, X-LINKED 53
|
Disease
|
Known
|
Explain
|
0.13747
|
|
32
|
Abidi X-linked mental retardation syndrome
|
Disease
|
Known
|
Explain
|
0.13747
|
|
33
|
ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME
|
Disease
|
Known
|
Explain
|
0.13747
|
|
34
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
|
Disease
|
Known
|
Explain
|
0.13747
|
|
35
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 7
|
Disease
|
Known
|
Explain
|
0.13747
|
|
36
|
MENTAL RETARDATION, X-LINKED 50
|
Disease
|
Known
|
Explain
|
0.13747
|
|
37
|
Hyde Forster Mccarthy Berry syndrome
|
Disease
|
Known
|
Explain
|
0.13747
|
|
38
|
MRX1 gene
|
Gene
|
Known
|
Explain
|
0.13647
|
|
39
|
MRX49 gene
|
Gene
|
Known
|
Explain
|
0.13647
|
|
40
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
|
Disease
|
Known
|
Explain
|
0.13599
|
|
41
|
KBG syndrome
|
Disease
|
Known
|
Explain
|
0.13398
|
|
42
|
AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS
|
Disease
|
Known
|
Explain
|
0.13398
|
|
43
|
MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS
|
Disease
|
Known
|
Explain
|
0.13398
|
|
44
|
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED
|
Disease
|
Known
|
Explain
|
0.13345
|
|
45
|
MENTAL RETARDATION, X-LINKED 58
|
Disease
|
Known
|
Explain
|
0.12969
|
|
46
|
Lubs X-linked mental retardation syndrome
|
Disease
|
Known
|
Explain
|
0.12961
|
|
47
|
MENTAL RETARDATION, X-LINKED 9
|
Disease
|
Known
|
Explain
|
0.12957
|
|
48
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4
|
Disease
|
Known
|
Explain
|
0.12889
|
|
49
|
MENTAL RETARDATION, X-LINKED 45
|
Disease
|
Known
|
Explain
|
0.12870
|
|
50
|
Stocco dos Santos syndrome
|
Disease
|
Known
|
Explain
|
0.12867
|
|
51
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
|
Disease
|
Known
|
Explain
|
0.12866
|
|
52
|
Epilepsy
|
Disease
|
Inferred
|
Explain
|
0.12854
|
|
53
|
LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY
|
Disease
|
Known
|
Explain
|
0.12840
|
|
54
|
MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION
|
Disease
|
Known
|
Explain
|
0.12840
|
|
55
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED
|
Disease
|
Known
|
Explain
|
0.12827
|
|
56
|
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12827
|
|
57
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
|
Disease
|
Known
|
Explain
|
0.12827
|
|
58
|
C1855077
|
Other
|
Known
|
Explain
|
0.12823
|
|
59
|
MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12823
|
|
60
|
MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12823
|
|
61
|
Creatine deficiency, X-linked
|
Disease
|
Known
|
Explain
|
0.12802
|
|
62
|
Fragile X Syndrome
|
Disease
|
Known
|
Explain
|
0.12776
|
|
63
|
MENTAL RETARDATION, X-LINKED 30
|
Disease
|
Known
|
Explain
|
0.12761
|
|
64
|
MENTAL RETARDATION, X-LINKED 46
|
Disease
|
Known
|
Explain
|
0.12742
|
|
65
|
CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
|
Disease
|
Known
|
Explain
|
0.12724
|
|
66
|
MENTAL RETARDATION, X-LINKED 72
|
Disease
|
Known
|
Explain
|
0.12717
|
|
67
|
FRYNS-AFTIMOS SYNDROME
|
Disease
|
Known
|
Explain
|
0.12694
|
|
68
|
MENTAL RETARDATION, X-LINKED 59
|
Disease
|
Known
|
Explain
|
0.12694
|
|
69
|
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12658
|
|
70
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
|
Disease
|
Known
|
Explain
|
0.12642
|
|
71
|
MENTAL RETARDATION, X-LINKED 63
|
Disease
|
Known
|
Explain
|
0.12614
|
|
72
|
SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12611
|
|
73
|
MENTAL RETARDATION, X-LINKED 3
|
Disease
|
Known
|
Explain
|
0.12596
|
|
74
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
|
Disease
|
Known
|
Explain
|
0.12593
|
|
75
|
Siderius X-linked mental retardation syndrome
|
Disease
|
Known
|
Explain
|
0.12579
|
|
76
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Disease
|
Known
|
Explain
|
0.12569
|
|
77
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2
|
Disease
|
Known
|
Explain
|
0.12557
|
|
78
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
|
Disease
|
Known
|
Explain
|
0.12539
|
|
79
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
|
Disease
|
Known
|
Explain
|
0.12538
|
|
80
|
MENTAL RETARDATION, X-LINKED 21 (disorder)
|
Disease
|
Known
|
Explain
|
0.12528
|
|
81
|
MENTAL RETARDATION, FRA12A TYPE
|
Disease
|
Known
|
Explain
|
0.12499
|
|
82
|
ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12468
|
|
83
|
MENTAL RETARDATION, X-LINKED 91 (disorder)
|
Disease
|
Known
|
Explain
|
0.12434
|
|
84
|
Hair defect with photosensitivity and mental retardation
|
Disease
|
Known
|
Explain
|
0.12412
|
|
85
|
HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES
|
Disease
|
Known
|
Explain
|
0.12403
|
|
86
|
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
Disease
|
Known
|
Explain
|
0.12400
|
|
87
|
Mental retardation X-linked, South African type
|
Disease
|
Known
|
Explain
|
0.12397
|
|
88
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC 10
|
Disease
|
Known
|
Explain
|
0.12353
|
|
89
|
RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12316
|
|
90
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
|
Disease
|
Known
|
Explain
|
0.12305
|
|
91
|
RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES
|
Disease
|
Known
|
Explain
|
0.12291
|
|
92
|
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12246
|
|
93
|
MENTAL RETARDATION WITH SPASTIC PARAPLEGIA
|
Disease
|
Known
|
Explain
|
0.12180
|
|
94
|
Kuzniecky syndrome
|
Disease
|
Known
|
Explain
|
0.12128
|
|
95
|
HYPERPHOSPHATASIA WITH MENTAL RETARDATION
|
Disease
|
Known
|
Explain
|
0.12107
|
|
96
|
Chudley-Rozdilsky syndrome
|
Disease
|
Known
|
Explain
|
0.12086
|
|
97
|
DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION
|
Disease
|
Known
|
Explain
|
0.12021
|
|
98
|
Seizures
|
Disease
|
Inferred
|
Explain
|
0.11983
|
|
99
|
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
|
Disease
|
Known
|
Explain
|
0.11916
|
|
100
|
MENTAL RETARDATION, X-LINKED 93 (disorder)
|
Disease
|
Known
|
Explain
|
0.11888
|