|
#
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Entity
|
Type
|
Relation
|
Support
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Relative specificity
|
|
1
|
CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM
|
Disease
|
Known
|
Explain
|
|
|
2
|
Eunuchoidism, familial hypogonadotropic
|
Disease
|
Known
|
Explain
|
|
|
3
|
NELF gene
|
Gene
|
Known
|
Explain
|
|
|
4
|
Chudley-Rozdilsky syndrome
|
Disease
|
Known
|
Explain
|
|
|
5
|
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
|
Disease
|
Known
|
Explain
|
|
|
6
|
Kallmann Syndrome
|
Disease
|
Known
|
Explain
|
|
|
7
|
Hypogonadism
|
Disease
|
Known
|
Explain
|
|
|
8
|
PROK2 gene
|
Gene
|
Known
|
Explain
|
|
|
9
|
TAC3 gene
|
Gene
|
Known
|
Explain
|
|
|
10
|
KISS1R gene
|
Gene
|
Known
|
Explain
|
|
|
11
|
Congenital hypoplasia of adrenal gland
|
Other
|
Known
|
Explain
|
|
|
12
|
TACR3 gene
|
Gene
|
Known
|
Explain
|
|
|
13
|
CHD7 gene
|
Gene
|
Known
|
Explain
|
|
|
14
|
Testicular hypogonadism
|
Disease
|
Inferred
|
Explain
|
|
|
15
|
FGFR1 gene
|
Gene
|
Known
|
Explain
|
|
|
16
|
GNRH1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
17
|
Ataxia, Spinocerebellar
|
Disease
|
Inferred
|
Explain
|
|
|
18
|
Hypoadrenocorticism, familial
|
Disease
|
Inferred
|
Explain
|
|
|
19
|
Short stature
|
Disease
|
Inferred
|
Explain
|
|
|
20
|
ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE
|
Disease
|
Inferred
|
Explain
|
|
|
21
|
ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE
|
Disease
|
Inferred
|
Explain
|
|
|
22
|
Adrenal cortical hypofunction
|
Disease
|
Inferred
|
Explain
|
|
|
23
|
Adrenal Insufficiency Adverse Event
|
Disease
|
Inferred
|
Explain
|
|
|
24
|
Cerebellar Ataxia
|
Disease
|
Inferred
|
Explain
|
|
|
25
|
Adrenoleukodystrophy
|
Disease
|
Inferred
|
Explain
|
|
|
26
|
Spastic paraplegia with Kallmann syndrome
|
Disease
|
Inferred
|
Explain
|
|
|
27
|
HSPB3 gene
|
Gene
|
Inferred
|
Explain
|
|
|
28
|
Anosmia
|
Disease
|
Inferred
|
Explain
|
|
|
29
|
Addison Disease
|
Disease
|
Inferred
|
Explain
|
|
|
30
|
Ataxia as late effect of cerebrovascular disease
|
Disease
|
Inferred
|
Explain
|
|
|
31
|
Ataxia
|
Disease
|
Inferred
|
Explain
|
|
|
32
|
PROKR2 gene
|
Gene
|
Inferred
|
Explain
|
|
|
33
|
Precocious Puberty
|
Disease
|
Inferred
|
Explain
|
|
|
34
|
Adrenal gland hypofunction
|
Disease
|
Inferred
|
Explain
|
|
|
35
|
Primary hypogonadism
|
Disease
|
Inferred
|
Explain
|
|
|
36
|
Mental Retardation
|
Disease
|
Inferred
|
Explain
|
|
|
37
|
Male Pseudohermaphroditism
|
Disease
|
Inferred
|
Explain
|
|
|
38
|
Somatotropin deficiency
|
Disease
|
Inferred
|
Explain
|
|
|
39
|
KAL1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
40
|
Prokineticin
|
Domain
|
Inferred
|
Explain
|
|
|
41
|
HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES
|
Disease
|
Inferred
|
Explain
|
|
|
42
|
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY
|
Disease
|
Inferred
|
Explain
|
|
|
43
|
Sexual Infantilism
|
Disease
|
Inferred
|
Explain
|
|
|
44
|
tachykinin receptor signaling pathway
|
Function
|
Inferred
|
Explain
|
|
|
45
|
GFI1B gene
|
Gene
|
Inferred
|
Explain
|
|
|
46
|
response to morphine
|
Function
|
Inferred
|
Explain
|
|
|
47
|
Pituitary Dwarfism Type 3
|
Disease
|
Inferred
|
Explain
|
|
|
48
|
RAN gene
|
Gene
|
Inferred
|
Explain
|
|
|
49
|
ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL
|
Other
|
Inferred
|
Explain
|
|
|
50
|
positive regulation of blood pressure
|
Function
|
Inferred
|
Explain
|
|
|
51
|
Woodhouse Sakati syndrome
|
Disease
|
Inferred
|
Explain
|
|
|
52
|
FGF8 gene
|
Gene
|
Inferred
|
Explain
|
|
|
53
|
Gonadal Disorders
|
Disease
|
Inferred
|
Explain
|
|
|
54
|
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
|
Disease
|
Inferred
|
Explain
|
|
|
55
|
PROOPIOMELANOCORTIN DEFICIENCY
|
Disease
|
Inferred
|
Explain
|
|
|
56
|
GNRHR gene
|
Gene
|
Inferred
|
Explain
|
|
|
57
|
(N-N'-bis-(2-(1H-indol-3-yl)-ethyl)-N,N'-bis-(3-thiomorpholin-4-yl-propyl)-phthalamide)
|
Compound
|
Inferred
|
Explain
|
|
|
58
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1
|
Disease
|
Inferred
|
Explain
|
|
|
59
|
GPRASP1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
60
|
neuropeptide signaling pathway
|
Function
|
Inferred
|
Explain
|
|
|
61
|
TACR2 gene
|
Gene
|
Inferred
|
Explain
|
|
|
62
|
RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM
|
Disease
|
Inferred
|
Explain
|
|
|
63
|
TAC4 gene
|
Gene
|
Inferred
|
Explain
|
|
|
64
|
positive regulation of smooth muscle contraction
|
Function
|
Inferred
|
Explain
|
|
|
65
|
NR0B1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
66
|
KISS1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
67
|
positive regulation of uterine smooth muscle contraction
|
Function
|
Inferred
|
Explain
|
|
|
68
|
Autoimmune Syndrome Type II, Polyglandular
|
Disease
|
Inferred
|
Explain
|
|
|
69
|
tachykinin receptor activity
|
Function
|
Inferred
|
Explain
|
|
|
70
|
TACR1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
71
|
Genetic Diseases, Inborn
|
Disease
|
Inferred
|
Explain
|
|
|
72
|
LHCGR gene
|
Gene
|
Inferred
|
Explain
|
|
|
73
|
positive regulation of stress fiber assembly
|
Function
|
Inferred
|
Explain
|
|
|
74
|
Nociception
|
Function
|
Inferred
|
Explain
|
|
|
75
|
regulation of dopamine metabolic process
|
Function
|
Inferred
|
Explain
|
|
|
76
|
hyperosmotic salinity response
|
Function
|
Inferred
|
Explain
|
|
|
77
|
arachidonic acid secretion
|
Function
|
Inferred
|
Explain
|
|
|
78
|
regulation of feeding behavior
|
Other
|
Inferred
|
Explain
|
|
|
79
|
VOPP1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
80
|
LHB gene
|
Gene
|
Inferred
|
Explain
|
|
|
81
|
CCDC90B gene
|
Gene
|
Inferred
|
Explain
|
|
|
82
|
positive regulation of heart rate
|
Function
|
Inferred
|
Explain
|
|
|
83
|
positive regulation of synaptic transmission
|
Function
|
Inferred
|
Explain
|
|
|
84
|
TAC1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
85
|
CHARGE Syndrome
|
Disease
|
Inferred
|
Explain
|
|
|
86
|
LEPR gene
|
Gene
|
Inferred
|
Explain
|
|
|
87
|
X-linked inheritance
|
Function
|
Inferred
|
Explain
|
|
|
88
|
Circadian Rhythms
|
Function
|
Inferred
|
Explain
|
|
|
89
|
Hyperalgesia
|
Disease
|
Inferred
|
Explain
|
|
|
90
|
response to cocaine
|
Function
|
Inferred
|
Explain
|
|
|
91
|
neuropeptide receptor activity
|
Function
|
Inferred
|
Explain
|
|
|
92
|
glycitein
|
Compound
|
Inferred
|
Explain
|
|
|
93
|
FSHB gene
|
Gene
|
Inferred
|
Explain
|
|
|
94
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Disease
|
Inferred
|
Explain
|
|
|
95
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
|
Disease
|
Inferred
|
Explain
|
|
|
96
|
UBR1 gene
|
Gene
|
Inferred
|
Explain
|
|
|
97
|
activation of MAPK activity
|
Function
|
Inferred
|
Explain
|
|
|
98
|
female genitalia development
|
Function
|
Inferred
|
Explain
|
|
|
99
|
BRK domain
|
Domain
|
Inferred
|
Explain
|
|
|
100
|
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (finding)
|
Disease
|
Inferred
|
Explain
|
|