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 81
Bifid thoracic vertebrae 1
Byzanthine arch palate 194
Cardiac Arrhythmia 101
Cardiac conduction abnormalities 78
Cleft Lip 141
Cleft Palate 265
Conduction disorder of the heart 79
Congenital dyserythropoietic anemia 18
Congenital hypoplasia of radius 23
Congestive heart failure 109
Decreased platelet count 110
Delayed Puberty 94
Depressed nasal ridge 48
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 359
Fatigue 176
Fetal Growth Retardation 186
Hand deformities 31
Heart failure 157
Hypoplasia of thumb 26
Hypoplastic coccygeal vertebrae 1
Hypoplastic ilia 12
Hypoplastic mandible condyle 273
Hypoplastic myelodysplasia 18
Hypoplastic sacral vertebrae 1
Increased number of platelets 14
Infant, Small for Gestational Age 174
Infantile onset 236
Intermittent migraine headaches 66
Intrauterine retardation 174
Late fontanel closure 28
MYELODYSPLASTIC SYNDROME 53
Malignant tumor of colon 19
Mandibular hypoplasia 273
Micrognathism 273
Migraine Disorders 74
Narrow thorax 53
Neck webbing 35
Neutrophil count decreased 46
Orbital separation excessive 240
Pallor 40
Partial duplication of thumb phalanx 5
Pediatric failure to thrive 359
Premature Birth 76
Premature birth of newborn 67
Radial ray hypoplasia 23
Reticulocytopenia 10
Retrognathia 53
Short neck 139
Short stature 514
Small head 366
Small wings of the pelvic girdle 12
Strabismus 265
Thrombocytopenia 193
Thrombocytosis 36
Thumb aplasia 16
Triphalangeal thumb 8
Uranostaphyloschisis 162
Ventricular Septal Defects 113
genital abnormal 17
osteosarcoma 7766
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