Property Summary

NCBI Gene PubMed Count 30
PubMed Score 152.38
PubTator Score 30.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Ellis-Van Creveld syndrome 19 8.019 4.0
Weyers acrofacial dysostosis 2 0.0 0.0
Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormality of alveolar processes of jaw 1
Abnormality of oral frenula 7
Abnormality of oral mucosa 3
Abnormality of pelvic girdle bone morphology 37
Abnormality of the antihelix 10
Abnormality of the fingernails 51
Acetabular spurs 3
Alveolar ridge abnormality 1
Aplasia/Hypoplasia of the lungs 13
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Brachydactyly 156
Capitate-hamate fusion 5
Cleft Lip 141
Cleft face 6
Common atrium 2
Cone-shaped epiphyses of phalanges 2 to 5 1
Congenital clubfoot 109
Congenital pectus carinatum 52
Cryptorchidism 296
Curvature of little finger 110
Dandy-Walker Syndrome 39
Decreased size of teeth 62
Decreased width of tooth 59
Dysplastic toenails 3
Dystrophia unguium 53
Ectodermal Dysplasia 14
Endocardial Cushion Defects 17
Epispadias, male (disorder) 4
Failure to gain weight 365
Fetal Growth Retardation 189
Fibular polydactyly 12
Hand polydactyly 11
Heart valve disease 39
Horizontal ribs 5
Hypodontia 81
Hypoplastic iliac wing 19
Hypoplastic toenails 22
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Knee joint valgus deformity 56
Late tooth eruption 61
Microdontia (disorder) 59
Micromelia 58
Micronychia (disorder) 24
Nail dysplasia 52
Narrow thorax 53
Natal Teeth 9
Orbital separation diminished 23
Overlapping fingers 10
Pediatric failure to thrive 365
Peg shaped front tooth 6
Peg-shaped incisors 6
Peg-shaped teeth 8
Penile hypospadias 106
Pointed front tooth 6
Pointed incisor 6
Pointed teeth 8
Polydactyly of toes 12
Postaxial foot polydactyly 12
Premature tooth eruption 5
Prominent antihelix 5
Relative short stature 13
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 5
Short distal phalanges 50
Short hands 50
Short limb dwarfism recognizable at birth 9
Short ribs 30
Short stature, mild 13
Short thorax 21
Short tubular bones 22
Situs Inversus 65
Situs ambiguus 25
Small hand 36
Strabismus 270
Ulnar polydactyly of fingers 47
VALVULAR ABNORMALITY 12
Ventricular Septal Defects 119
Disease Target Count P-value
malignant mesothelioma 3232 6.3e-08
osteosarcoma 7950 2.0e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 1.4
Disease Target Count
Curry-Hall syndrome 2

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -2.200 6.3e-08
osteosarcoma 1.064 2.0e-05

Gene RIF (19)

AA Sequence

MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKDDTQNLLKNLE      1 - 70
SNAQTPSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVIYPINQKFRPLADGSSNPSLH     71 - 140
ENLKQAVLPHQPVEASPSSSLGSLSQGEKDDCSSSSSVHSATSDDRFLSRTFLRVNAFPEVLACESVDVD    141 - 210
LCIYSLHLKDLLHLDTALRQEKHMMFIQIFKMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKL    211 - 280
SNTEMSGAGDSEYITLADVEKKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERM    281 - 350
IAAEGLLCDSQELQALDALERTMGRAHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEE    351 - 420
LLTQQHKAFWQEAERFSREFVQRGKDLVTASLAHQVEGTAKLTLAQEEEQRSFLAEAQPTADPEKFLEAF    421 - 490
HEVLERQRLMQCDLEEEENVRATEAVVALCQELYFSTVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQE    491 - 560
VQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECALSSVLQTHLREDHEGTIRGVLGRLGGLTEES    561 - 630
TRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALE    631 - 700
ARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRT    701 - 770
LMEAAVESVYVTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRT    771 - 840
AGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQNFISELAALA    841 - 910
RVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLSQQESEAGDSG    911 - 980
NSKKMLKRRSNL                                                              981 - 992
//

Text Mined References (29)

PMID Year Title