Property Summary

NCBI Gene PubMed Count 91
PubMed Score 206.65
PubTator Score 107.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Obesity 678
Abnormal coordination 15
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Attention deficit hyperactivity disorder 278
Bicuspid aortic valve 16
Bladder Diverticulum 15
Blepharophimosis 70
Broad nasal tip 28
Bunion 26
Chronic constipation 7
Chubby cheeks 50
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital hypoplasia of kidney 32
Constipation 181
Contracture 96
Contracture of joint 93
Coronary stenosis 8
Cutis Laxa 39
Decreased projection of midface 105
Decreased size of teeth 62
Decreased width of tooth 59
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Dyschezia 135
Enuresis 7
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fleshy earlobes 8
Flexion contracture 93
Flexion contractures of joints 93
Full cheeks 50
Full lower lip 64
Gait imbalance 17
Gastroesophageal reflux disease 110
Generalized elastolysis 24
Generalized osteopenia 99
Hallux Valgus 26
Hanging skin 24
Heartburn 78
Hoarseness 31
Hyperacusis 11
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Hypodontia 81
Hypotrophic midface 105
Impaired glucose tolerance 28
Impaired visuospatial constructive cognition 2
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint laxity 54
Kidney Failure 111
Kyphoscoliosis deformity of spine 60
Liver carcinoma 240
Long philtrum 137
Low intelligence 645
Malocclusion 57
Medial eyebrow flare 4
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Micronychia (disorder) 24
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Muscle hypotonia 571
Narrow forehead 34
Obsessive-compulsive trait 4
Open mouth 45
Osteopenia 99
Osteoporosis 363
Pelvic kidney 10
Periorbital fullness 9
Peripheral pulmonary artery stenosis 14
Phonophobia 11
Poor coordination 11
Poor school performance 645
Premature canities 24
Prominent lower lip 64
Puffy cheeks 50
Pulmonary Stenosis 45
Rectal prolapse 19
Recurrent otitis media 42
Recurrent urinary tract infection 24
Renal Insufficiency 90
Renal failure in adulthood 76
Sensorineural Hearing Loss (disorder) 284
Short nose 132
Short stature 531
Sloping shoulders 21
Small midface 105
Small nose 132
Soft skin 17
Strabismus 270
Urethral Stricture 18
Velvety skin 17
Vesico-Ureteral Reflux 33
blue iris (physical finding) 17
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Williams-Beuren syndrome 50 3.478 1.7

Expression

  Differential Expression (6)

Disease log2 FC p
breast carcinoma -2.200 1.3e-03
ductal carcinoma in situ -1.600 8.1e-04
fibroadenoma -3.200 8.7e-03
invasive ductal carcinoma -1.500 1.2e-02
medulloblastoma -1.100 1.7e-05
primitive neuroectodermal tumor -1.200 8.3e-05

Gene RIF (69)

AA Sequence

MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEG      1 - 70
SVGPSDFGPRSIDPTLTRLFECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKS     71 - 140
PVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMREYHKWRIYYKKRLRKPSREDDLLAPKQAEGR    141 - 210
WPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLPPEDAYVGNAD    211 - 280
MIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHL    281 - 350
SGHSRLQARNSCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAP    351 - 420
PTALLQEEPLFSPRFPFPTVPPAPGVSPLPAPAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSM    421 - 490
PRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQALEPPLVSSTLLRSPGSPQET    491 - 560
VPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRV    561 - 630
SPPQPILSRGRPDSNKTENRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKVSKATTLQKTAEYI    631 - 700
LMLQQERAGLQEEAQQLRDEIEELNAAINLCQQQLPATGVPITHQRFDQMRDMFDDYVRTRTLHNWKFWV    701 - 770
FSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPALRPTVLNSLRQLGTSTSILTDPGRIPEQAT    771 - 840
RAVTEGTLGKPL                                                              841 - 852
//

Text Mined References (93)

PMID Year Title