Property Summary

NCBI Gene PubMed Count 92
PubMed Score 1380.77
PubTator Score 143.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
11 pairs of ribs 7
Abnormality of the urinary system 21
Anemia, Macrocytic 18
Aortic coarctation 30
Atrial Septal Defects 85
Bifid thoracic vertebrae 1
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cleft Lip 141
Cleft Palate 271
Conduction disorder of the heart 79
Congenital dyserythropoietic anemia 18
Congenital hypoplasia of radius 23
Congestive heart failure 113
Decreased platelet count 111
Delayed Puberty 97
Depressed nasal ridge 51
Downward slant of palpebral fissure 158
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated red cell adenosine deaminase activity 3
Failure to gain weight 365
Fatigue 182
Fetal Growth Retardation 189
Hand deformities 32
Heart failure 162
Hypoplasia of thumb 26
Hypoplastic coccygeal vertebrae 1
Hypoplastic ilia 12
Hypoplastic mandible condyle 275
Hypoplastic myelodysplasia 18
Hypoplastic sacral vertebrae 1
Increased number of platelets 14
Infant, Small for Gestational Age 176
Infantile onset 238
Intermittent migraine headaches 68
Intrauterine retardation 176
Late fontanel closure 28
MYELODYSPLASTIC SYNDROME 53
Malignant tumor of colon 19
Mandibular hypoplasia 275
Micrognathism 275
Migraine Disorders 76
Narrow thorax 53
Neck webbing 35
Neutrophil count decreased 47
Orbital separation excessive 244
Pallor 40
Partial duplication of thumb phalanx 6
Pediatric failure to thrive 365
Premature Birth 77
Premature birth of newborn 67
Radial ray hypoplasia 23
Reticulocytopenia 10
Retrognathia 54
Short neck 140
Short stature 531
Small head 374
Small wings of the pelvic girdle 12
Strabismus 270
Thrombocytopenia 197
Thrombocytosis 38
Thumb aplasia 16
Triphalangeal thumb 9
Uranostaphyloschisis 167
Ventricular Septal Defects 119
genital abnormal 17
osteosarcoma 7950
reproductive system abnormality 17

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytoma 1.100 6.2e-24
atypical teratoid / rhabdoid tumor 1.200 7.9e-09
diabetes mellitus -1.300 2.8e-03
fibroadenoma 1.100 1.4e-02
glioblastoma multiforme 1.200 1.3e-30
group 3 medulloblastoma 1.200 9.1e-04
lung cancer 1.500 1.1e-03
medulloblastoma, large-cell 1.300 6.9e-05
Multiple myeloma 1.433 3.6e-03
primitive neuroectodermal tumor 1.100 9.4e-05

Gene RIF (56)

AA Sequence

MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGA      1 - 70
GVGSMTKIYGGRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAA     71 - 140
ANKKH                                                                     141 - 145
//

Text Mined References (99)

PMID Year Title