Property Summary

NCBI Gene PubMed Count 68
PubMed Score 208.55
PubTator Score 74.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Polydactyly 107
Abnormally small eyeball 97
Accessory rib 10
Acquired scoliosis 281
Basal cell nevi 23
Big calvaria 147
Brachydactyly 156
Broad flat nasal bridge 236
Calcification of falx cerebri 6
Cardiac fibroma 3
Cardiac rhabdomyoma 5
Cataract 297
Cerebral calcification 43
Class III malocclusion 78
Cleft Lip 141
Cleft Palate 271
Coarse facial features 108
Coloboma of iris 38
Congenital anomaly of neck 19
Congenital fusion of ribs 4
Congenital hemivertebra 25
Curvature of spine 282
Decreased size of eyeball 97
Deformity of neck 19
Desmoplastic Medulloblastoma 1
Frontal bossing 157
Fused vertebrae 25
Glaucoma 239
Hamartomatous stomach polyps 3
Highly variable severity 157
Hydrocephalus 152
Hypertrophy of lower jaw 78
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Irregular ossification of hand bones 3
Keratocystic Odontogenic Tumor 3
Kyphoscoliosis deformity of spine 60
Lens Opacities 231
MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY 1
Malformation of the neck 19
Mandibular hyperplasia 78
Melanocytic nevus 43
Microphthalmos 100
Milium Cyst 16
Motor delay 147
Nasal bridge wide 236
No development of motor milestones 147
Noncancerous mole 28
Orbital cyst 8
Orbital separation excessive 244
Ovarian Fibromata 3
Palmar pit 4
Parietal bossing 5
Plantar pits 4
Sella Turcica, Bridged 3
Short 4th metacarpal 7
Short ribs 30
Short thumb terminal phalanx 5
Skin tag 14
Sloping shoulders 21
Spinal fusion 25
Sprengel deformity 16
Sternal anomalies 19
Strabismus 270
Thickened facial skin with coarse facial features 108
Uranostaphyloschisis 167
Variable expressivity 157
Vertebral body fusion 25
Vertebral wedging 4
mandibular excess (physical finding) 78
spina bifida 1074
Disease Target Count P-value
ovarian cancer 8520 1.7e-08
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Cancer 2499 3.869 1.9
Disease Target Count Z-score Confidence
Nevoid basal cell carcinoma syndrome 16 5.499 2.7

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 1.200 1.7e-08

Protein-protein Interaction (2)

PDB (10)

Gene RIF (46)

AA Sequence

MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDY      1 - 70
VSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAEL     71 - 140
MQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHS    141 - 210
AQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSR    211 - 280
PPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESD    281 - 350
SSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATE    351 - 420
EHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH          421 - 484
//

Text Mined References (73)

PMID Year Title