Property Summary

NCBI Gene PubMed Count 552
PubMed Score 2443.69
PubTator Score 1941.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Attention deficit hyperactivity disorder 278
Schizophrenia 1160
Abnormality of metabolism/homeostasis 134
Acquired flat foot 72
Acquired scoliosis 281
Action Tremor 22
Adult onset 82
Anxiety 136
Anxiety disease 113
Atrophy of cerebellum 103
Autonomic nervous system disorders 19
Big calvaria 147
Bipolar Disorder 666
Bradykinesia 34
Bulbous nasal tip 48
Bulbous nose 48
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME 1
Cerebellar Dysmetria 56
Cerebellar degeneration 103
Cerebral atrophy 178
Chronic otitis media 52
Class III malocclusion 78
Coarse facial features 108
Cognitive delay 608
Congenital Abnormality 11
Congenital deafness 185
Congenital macroorchidism 1
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased distal vibration sense 4
Decreased tendon reflex 122
Delayed bone age 136
Dementia 175
Depressive Symptoms 28
Depressive disorder 409
Diffuse cerebellar atrophy 2
Diffuse cerebral atrophy 8
Dysarthria 192
Dysautonomia 20
Dysdiadochokinesis 25
Dysesthesia 6
Elevated gonadotropins 15
Enophthalmos 75
Epilepsy 792
Erectile dysfunction 32
FRAGILE X TREMOR/ATAXIA SYNDROME 1
FRAXA Syndrome 1
Failure to gain weight 365
Fecal Incontinence 7
Fetal Growth Retardation 189
Flatfoot 73
Folate-dependent fragile site at Xq28 1
Forgetful 40
Frontal bossing 157
Gait Ataxia 51
Gastroesophageal reflux disease 110
Global developmental delay 608
Gynecomastia 64
Head movements abnormal 1
Hearing Loss, Partial 185
Heartburn 78
High pitched voice 23
Hyperactive behavior 91
Hyperplasia of forehead 3
Hypertrophy of forehead 3
Hypertrophy of lower jaw 78
Hypogonadism 173
Hypoplastic feet 66
Hypothyroidism 122
Increased frequency of micturition 2
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Inertia 1
Infant, Small for Gestational Age 176
Infratentorial atrophy 103
Intrauterine retardation 176
Irregular periods 6
Joint laxity 54
Large auricle 87
Large dysplastic ears 87
Large forehead 3
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long face 71
Macroorchidism 7
Macroorchidism, postpubertal 2
Macrotia 87
Major Depressive Disorder 301
Mandibular hyperplasia 78
Mask-like facies 25
Memory Loss 40
Memory impairment 40
Mental and motor retardation 608
Mild Mental Retardation 70
Mitral Valve Prolapse Syndrome 39
Mixed anxiety and depressive disorder 12
Moderate mental retardation (I.Q. 35-49) 28
Mood Disorders 184
Mood instability 2
Muscle Rigidity 49
Muscle Weakness 170
Muscle hypotonia 571
Myalgia 54
Narrow face 54
Nystagmus 317
Obesity, Abdominal 24
Obsessive compulsive behavior 25
Obsessive-compulsive trait 4
Ovarian Failure, Premature 9
Paranasal Sinus Diseases 34
Parkinsonian Disorders 56
Pectus excavatum 100
Pediatric failure to thrive 365
Periventricular neuronal heterotopia 6
Poor eye contact 12
Poor fine motor coordination 4
Potato nose 48
Premature Menopause 31
Prominent ear 56
Protruding ears 56
Resting Tremor 9
Saccadic smooth pursuit 3
Seizures 596
Short stature 531
Sinusitis 65
Small hand 36
Small testicle 75
Social disinhibition 14
Sparse body hair 32
Speech Disorders 58
Sphincter disturbances 16
Static Tremor 21
Sunken eyes 63
Terminal tremor 20
Thickened facial skin with coarse facial features 108
Thin face 54
Thin lips 49
Unipolar Depression 250
Urinary Incontinence 50
X-linked dominant 57
ear infection chronic 52
hearing impairment 199
mandibular excess (physical finding) 78
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Fragile X-associated tremor/ataxia syndrome 6 0.0 5.0
Disease Target Count Z-score Confidence
Premature ovarian failure 65 6.806 3.4

Expression

  Differential Expression (15)

Disease log2 FC p
acute quadriplegic myopathy 1.445 2.1e-05
adult high grade glioma -1.100 1.8e-03
Amyotrophic lateral sclerosis 1.282 3.1e-06
atypical teratoid / rhabdoid tumor -1.200 3.2e-05
autosomal dominant Emery-Dreifuss muscul... 1.179 1.4e-02
dermatomyositis 1.200 2.9e-03
Duchenne muscular dystrophy 1.158 6.1e-05
intraductal papillary-mucinous neoplasm ... 1.300 1.8e-02
juvenile dermatomyositis 1.184 3.1e-11
lung cancer -1.200 7.4e-04
medulloblastoma, large-cell -1.100 3.9e-04
psoriasis -1.200 1.3e-03
sarcoidosis 1.100 6.5e-03
spina bifida -1.071 3.3e-02
subependymal giant cell astrocytoma -1.318 5.4e-03

Protein-protein Interaction (3)

Gene RIF (518)

AA Sequence

MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDINESDEVEVYSR      1 - 70
ANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKPATKDTFHKIKLDVPEDLRQM     71 - 140
CAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLE    141 - 210
SSRQLASRFHEQFIVREDLMGLAIGTHGANIQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLE    211 - 280
FAEDVIQVPRNLVGKVIGKNGKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAP    281 - 350
EEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH    351 - 420
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRGHGRRGPGYTS    421 - 490
GTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRGQGGRGRGGGFKGNDDHSRTD    491 - 560
NRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSSEGSRLRTGKDRNQKKEKPDSVDGQQPLVNG    561 - 630
VP                                                                        631 - 632
//

Text Mined References (574)

PMID Year Title