Property Summary

Ligand Count 1
NCBI Gene PubMed Count 29
PubMed Score 99.62
PubTator Score 28.64

Knowledge Summary

Patent (14,331)

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 1 0.0 0.0
Disease Target Count
ANONYCHIA 20
Absence of eyebrows 31
Absent eyebrow 13
Absent eyelashes 16
Agenesis of eyebrows 13
Alopecia totalis 3
Ambiguous Genitalia 24
Ankyloblepharon 4
Ankyloblepharon filiforme adnatum 4
Aplasia of eyebrows 13
Aplasia of eyelashes 16
Aplasia/Hypoplasia of the distal phalanges of the toes 2
Aplasia/Hypoplasia of the eyebrow 31
Autosomal recessive predisposition 1442
Cleft Lip 141
Cleft Palate 271
Cleft face 6
Clouding of corneal stroma 50
Coloboma of eyelid 15
Corneal Opacity 53
Dull intelligence 645
Failure of development of eyelashes 16
Fetal Growth Retardation 189
Hypoplasia/agenesis of distal phalanges of toes 2
Hypoplastic male genitalia 7
Hypoplastic mandible condyle 275
Hypoplastic toenails 22
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Low intelligence 645
Low set ears 181
Madarosis of eyebrow 13
Mandibular hypoplasia 275
Median cleft lip 7
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Micronychia (disorder) 24
Microstomia 78
Partial to total absence of eyelashes 7
Poor school performance 645
Popliteal pterygium 4
Short nose 132
Short phalanx of finger 32
Small head 374
Small labia majora 16
Small nose 132
Sparse or absent eyebrows 31
Sparse or absent eyelashes 7
Sparse to absent eyelashes 7
Sparse/absent eyebrows 31
Stricture of anus 13
Syndactyly 88
Syndactyly of fingers 48
Syndactyly of the toes 45
Synostosis of joints 2
Talipes 20
Talipes foot deformities 20
Thin hypoplastic alae nasi 51
Thumb aplasia 16
Uranostaphyloschisis 167
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.5
Disease Target Count
Bartsocas-Papas syndrome 1

Expression

  Differential Expression (11)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 2.6e-03
Breast cancer -2.000 2.9e-11
chronic rhinosinusitis -1.272 4.4e-02
cystic fibrosis -1.020 2.4e-04
interstitial cystitis -1.600 9.2e-03
intraductal papillary-mucinous neoplasm ... 1.400 2.8e-03
nephrosclerosis -1.113 1.1e-03
non-small cell lung cancer 1.011 2.7e-08
ovarian cancer 1.100 5.3e-03
pituitary cancer -2.400 1.8e-06
spina bifida -1.614 4.9e-02

Gene RIF (19)

AA Sequence

MEGDGGTPWALALLRTFDAGEFTGWEKVGSGGFGQVYKVRHVHWKTWLAIKCSPSLHVDDRERMELLEEA      1 - 70
KKMEMAKFRYILPVYGICREPVGLVMEYMETGSLEKLLASEPLPWDLRFRIIHETAVGMNFLHCMAPPLL     71 - 140
HLDLKPANILLDAHYHVKISDFGLAKCNGLSHSHDLSMDGLFGTIAYLPPERIREKSRLFDTKHDVYSFA    141 - 210
IVIWGVLTQKKPFADEKNILHIMVKVVKGHRPELPPVCRARPRACSHLIRLMQRCWQGDPRVRPTFQGNG    211 - 280
LNGELIRQVLAALLPVTGRWRSPGEGFRLESEVIIRVTCPLSSPQEITSETEDLCEKPDDEVKETAHDLD    281 - 350
VKSPPEPRSEVVPARLKRASAPTFDNDYSLSELLSQLDSGVSQAVEGPEELSRSSSESKLPSSGSGKRLS    351 - 420
GVSSVDSAFSSRGSLSLSFEREPSTSDLGTTDVQKKKLVDAIVSGDTSKLMKILQPQDVDLALDSGASLL    421 - 490
HLAVEAGQEECAKWLLLNNANPNLSNRRGSTPLHMAVERRVRGVVELLLARKISVNAKDEDQWTALHFAA    491 - 560
QNGDESSTRLLLEKNASVNEVDFEGRTPMHVACQHGQENIVRILLRRGVDVSLQGKDAWLPLHYAAWQGH    561 - 630
LPIVKLLAKQPGVSVNAQTLDGRTPLHLAAQRGHYRVARILIDLCSDVNVCSLLAQTPLHVAAETGHTST    631 - 700
ARLLLHRGAGKEAMTSDGYTALHLAARNGHLATVKLLVEEKADVLARGPLNQTALHLAAAHGHSEVVEEL    701 - 770
VSADVIDLFDEQGLSALHLAAQGRHAQTVETLLRHGAHINLQSLKFQGGHGPAATLLRRSKT            771 - 832
//

Text Mined References (31)

PMID Year Title