Property Summary

NCBI Gene PubMed Count 122
PubMed Score 114.20
PubTator Score 161.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Abnormal eyelashes 13
Abnormality of oral frenula 7
Absence of eyebrows 31
Acquired flat foot 72
Acquired scoliosis 281
Aneurysm, Dissecting 8
Animal Mammary Neoplasms 136
Aortic root dilatation 11
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Arteriovenous fistulas of celiac and mesenteric vessels 3
Atrophic scar 18
Bat ear 3
Bladder Diverticulum 15
Blue sclera 32
Bowel diverticula 6
Bowel diverticulosis 6
Bunion 26
Cigarette-paper scars 4
Cognitive delay 608
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital diaphragmatic hernia 67
Congenital pectus carinatum 52
Cryptorchidism 296
Curvature of spine 282
Degenerative polyarthritis 115
Dental caries 164
Dilatation of aorta 9
Dissection of aorta 9
Ecchymosis 66
Ectopia Lentis 17
Ehlers-Danlos Syndrome, Type IV 2
Ehlers-Danlos syndrome classic type 3
Exophthalmos 112
Flat face 52
Flatfoot 73
Fragile skin 18
Gastroesophageal reflux disease 110
Gastrointestinal infarctions 2
Genu recurvatum 12
Global developmental delay 608
Hallux Valgus 26
Heartburn 78
Hernia, Femoral 7
Hernia, Inguinal 89
Hypokalemia 52
Impaired cognition 96
Increased tendency to bruise 66
Infantile muscular hypotonia 12
Internal haemorrhage 2
Irregularly spaced teeth 3
Joint hyperflexibility 78
Macule 19
Melanocytic nevus 43
Mental and motor retardation 608
Mental impairment 95
Mitral Valve Prolapse Syndrome 39
Molluscoid pseudotumors 5
Myopia 176
Narrow maxilla 3
Noncancerous mole 28
Orbital separation excessive 244
Pectus excavatum 100
Peripheral arteriovenous fistula 3
Pneumothorax 23
Poor wound healing 8
Premature Birth 77
Premature birth following premature rupture of fetal membranes 3
Premature birth of newborn 67
Prominent ear 56
Prominent eyes 96
Prominent globes 96
Protruding ears 56
Protruding eyes 96
Range of joint movement increased 32
Respiratory Insufficiency 132
Respiratory function loss 121
Rotting teeth 73
Short stature 531
Skin hyperelastic 32
Soft skin 17
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Spontaneous abortion 113
Sprengel deformity 16
Telangiectasia of the skin 39
Telecanthus 62
Thin lips 49
Thin skin 47
Translucent skin 4
Umbilical hernia 93
Varicosity 12
Velvety skin 17
Disease Target Count Z-score Confidence
Kidney cancer 2613 0.0 0.7
Liver cancer 604 0.0 0.6
Melanoma 711 0.0 0.9
Skin cancer 469 0.0 0.9
Disease Target Count Z-score Confidence
Glaucoma 239 3.06 1.5
Corneal disease 31 0.0 3.0
Disease Target Count Z-score Confidence
Keratoconus 113 4.427 2.2
Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome 43 7.046 3.5

Expression

  Differential Expression (32)

Gene RIF (72)

AA Sequence

MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTGFCATRRSSKG      1 - 70
PDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIYNEQGIQQIGLELGRSPVFLY     71 - 140
EDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLILDCKKKTTKFLDRSDHPMIDINGIIVFGTR    141 - 210
ILDEEVFEGDIQQLLFVSDHRAAYDYCEHYSPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYY    211 - 280
EDPEDLGKEPTPSKKPVEAAKETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPS    281 - 350
PYDDLTYGEGEENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY    351 - 420
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLPGPPGTMGPTG    421 - 490
QVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVSAQESQAQAILQQARLALRGP    491 - 560
AGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPPGPAGKPGRRGRAGSDGARGMPGQTGPKGDR    561 - 630
GFDGLAGLPGEKGHRGDPGPSGPPGPPGDDGERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTG    631 - 700
MDGQPGPKGNVGPQGEPGPPGQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGP    701 - 770
PGEKGGQGPPGPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED    771 - 840
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGRGTPGKPGPRG    841 - 910
QRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFPGPKGPPGPPGKDGLPGHPGQ    911 - 980
RGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPPGPPGEQGLPGLAGKEGTKGDPGPAGLPGKD    981 - 1050
GPPGLRGFPGDRGLPGPVGALGLKGNEGPPGPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKG   1051 - 1120
APGEKGPQGPAGRDGLQGPVGLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQ   1121 - 1190
PGPSGADGEPGPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS   1191 - 1260
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAAGPPGPKGPPG   1261 - 1330
DDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPTGEPGPSGPPGKRGPPGPAGP   1331 - 1400
EGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLRGIPGPVGEQGLPGSPGPDGPPGPMGPPGLP   1401 - 1470
GLKGDSGPKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPG   1471 - 1540
PKGAKGSSGPTGPKGEAGHPGPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEE   1541 - 1610
IFGSLNSLKLEIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC   1611 - 1680
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQNVTYHCYQSV   1681 - 1750
AWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVLEIDTPKVEQVPIVDIMFNDF   1751 - 1820
GEASQKFGFEVGPACFMG                                                       1821 - 1838
//

Text Mined References (126)

PMID Year Title