Property Summary

Ligand Count 6
NCBI Gene PubMed Count 441
PubMed Score 2879.14
PubTator Score 1051.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (10)

Disease Target Count
Choanal Atresia 42
Fetal alcohol syndrome 22
1-5 finger syndactyly 1
6 metacarpals 2
Abnormality of vision 40
Abnormally small eyeball 97
Abnormally small eyeball on both sides 5
Alobar Holoprosencephaly 14
Bilateral fifth finger clinodactyly 110
Bilateral nanophthalmos 5
Bowing of the long bones 31
Cognitive delay 608
Congenital anomaly of nose 4
Congenital ocular coloboma (disorder) 40
Curvature of little finger 110
Cyclocephaly 4
Decreased projection of midface 105
Decreased size of eyeball 97
Dull intelligence 645
Electroencephalogram abnormal 101
Epilepsy 792
Fetal Alcohol Spectrum Disorders 13
Fetal Growth Retardation 189
Fibular duplication 1
Flexion contracture of proximal interphalangeal joint 75
Global developmental delay 608
Hand polydactyly 11
Hemiparesis 34
Highly variable severity 157
Hydronephrosis 89
Hypoplasia or absence of the corpus callosum 23
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased fibular diameter 4
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Inverted V-shaped upper lip 19
Irido-fundal coloboma 2
Liver carcinoma 240
Lobar Holoprosencephaly 20
Low intelligence 645
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 1
Malar flattening 129
Malformation of the nose 4
Maxillary torus 2
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microphthalmia, Isolated, with Coloboma 1 8
Microphthalmia, bilateral 5
Microphthalmos 100
Midface retrusion 105
Midnasal stenosis 1
Narrow nose 20
Nose deformity 4
Orbital separation diminished 23
POLYDACTYLY, PREAXIAL II (disorder) 2
Pinched bridge of nose 14
Pinched nasal bridge 14
Polydactyly of toes 12
Polydactyly preaxial type 1 9
Poor school performance 645
Porencephaly 20
Premature Birth 77
Premature birth of newborn 67
Proboscis 1
Prominent midpalatal ridge (torus palatinus) 2
Secondary Parkinson Disease 10
Seizures 596
Semilobar Holoprosencephaly 14
Short philtrum 53
Short stature 531
Short tibia 9
Small head 374
Small midface 105
Spastic Quadriplegia 42
Strabismus 270
Syndactyly of fingers 48
Syndactyly of the toes 45
Tented mouth 19
Tented upper lip 19
Tibia, Hypoplasia of, with Polydactyly 2
Torus palatinus 2
Ulnar polydactyly of fingers 47
Variable expressivity 157
Disease Target Count
Basal cell carcinoma of skin 2
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
pancreatic cancer 2398 0.0 0.8
Disease Target Count Z-score Confidence
Coloboma 51 3.708 1.9
Disease Target Count Z-score Confidence
Microphthalmia 76 3.375 1.7

Expression

Protein-protein Interaction (10)

Gene RIF (399)

AA Sequence

MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNS      1 - 70
ERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLH     71 - 140
YEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQG    141 - 210
GTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDS    211 - 280
ATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTA    281 - 350
QGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGA    351 - 420
ADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS                                421 - 462
//

Text Mined References (453)

PMID Year Title