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 655
Abnormal coordination 15
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Attention deficit hyperactivity disorder 272
Bicuspid aortic valve 16
Bladder Diverticulum 15
Blepharophimosis 69
Broad nasal tip 28
Bunion 26
Chronic constipation 7
Chubby cheeks 49
Concave bridge of nose 191
Congenital Epicanthus 175
Congenital hypoplasia of kidney 31
Constipation 174
Contracture 95
Contracture of joint 92
Coronary stenosis 8
Cutis Laxa 39
Decreased projection of midface 104
Decreased size of teeth 62
Decreased width of tooth 59
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Dull intelligence 634
Dyschezia 129
Enuresis 7
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Fleshy earlobes 8
Flexion contracture 92
Flexion contractures of joints 92
Full cheeks 49
Full lower lip 61
Gait imbalance 17
Gastroesophageal reflux disease 108
Generalized elastolysis 24
Generalized osteopenia 94
Hallux Valgus 26
Hanging skin 24
Heartburn 76
Hoarseness 30
Hyperacusis 11
Hyperplasia of cheeks 49
Hyperreflexia 208
Hypertrophy of cheeks 49
Hypodontia 81
Hypotrophic midface 104
Impaired glucose tolerance 28
Impaired visuospatial constructive cognition 2
Infant, Small for Gestational Age 174
Intellectual disability 998
Intrauterine retardation 174
Joint laxity 52
Kidney Failure 108
Kyphoscoliosis deformity of spine 59
Liver carcinoma 229
Long philtrum 137
Low intelligence 634
Malocclusion 57
Medial eyebrow flare 4
Mental Retardation 634
Mental deficiency 634
Microdontia (disorder) 59
Micronychia (disorder) 24
Midface retrusion 104
Mitral Valve Prolapse Syndrome 38
Mitral regurgitation, mild 31
Mitral valve insufficiency 48
Muscle hypotonia 562
Narrow forehead 34
Obsessive-compulsive trait 4
Open mouth 44
Osteopenia 94
Osteoporosis 348
Pelvic kidney 10
Periorbital fullness 9
Peripheral pulmonary artery stenosis 14
Phonophobia 11
Poor coordination 11
Poor school performance 634
Premature canities 24
Prominent lower lip 61
Puffy cheeks 49
Pulmonary Stenosis 44
Rectal prolapse 19
Recurrent otitis media 41
Recurrent urinary tract infection 24
Renal Insufficiency 87
Renal failure in adulthood 75
Sensorineural Hearing Loss (disorder) 281
Short nose 127
Short stature 514
Sloping shoulders 21
Small midface 104
Small nose 127
Soft skin 17
Strabismus 265
Urethral Stricture 17
Velvety skin 17
Vesico-Ureteral Reflux 30
blue iris (physical finding) 17
Disease Target Count Z-score Confidence
Carcinoma 11192 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