Property Summary

NCBI Gene PubMed Count 162
PubMed Score 600.09
PubTator Score 429.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Congenital hypothyroidism 26
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 21
Abdomen distended 43
Abnormal nasal morphology 16
Abnormality of metabolism/homeostasis 134
Aortic coarctation 30
Athyroidal hypothyroidism 5
Atrioventricular Septal Defect 22
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Brachydactyly 156
Broad forehead 59
Broad hallux 29
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Chromosome 5, monosomy 5q35 2
Coarse facial features 108
Cognitive delay 608
Conduction disorder of the heart 79
Congenital atresia of aortic valve 1
Congenital atresia of mitral valve 2
Congenital hypoplasia of aortic arch 2
Constipation 181
Cryptorchidism 296
Curvature of little finger 110
Discordant ventriculoarterial connection 17
Double Outlet Right Ventricle 11
Dyschezia 135
EKG abnormalities 78
Ectopic thyroid tissue (disorder) 2
Electrocardiogram abnormal 81
Electrocardiogram change 78
Exophthalmos 112
Fatigue 182
Feeding difficulties 127
Fetal Growth Retardation 189
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 4
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 1
Hereditary bundle branch system defect 4
Hypersomnia 8
Hypothyroidism 122
Icterus 82
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Long narrow head 75
Macroglossia 65
Mental and motor retardation 608
Muscle Weakness 170
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Ostium secundum atrial septal defect 9
POLYDACTYLY, POSTAXIAL 13
Persistant truncus arteriosus 17
Poor growth 114
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Progressive mental retardation 37
Prolonged PR interval 1
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Splenic Hypoplasia 2
Thickened facial skin with coarse facial features 108
Thin lips 49
Thyroid Agenesis 5
Thyroid Hypoplasia 4
Turridolichocephaly 75
Umbilical hernia 93
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Ventricular Septal Defects 119
Very poor growth 114
Wide bregma sutures 46
Disease Target Count P-value
osteosarcoma 7950 1.7e-03
Disease Target Count Z-score Confidence
Familial atrial fibrillation 23 0.0 5.0
Right atrial isomerism 29 0.0 5.0
Disease Target Count Z-score Confidence
Atrial heart septal defect 18 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.054 1.7e-03

Protein-protein Interaction (1)

Gene RIF (143)

AA Sequence

MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELR      1 - 70
AELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRK     71 - 140
PRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPP    141 - 210
PPPPARRIAVPVLVRDGKPCLGDSAPYAPAYGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSP    211 - 280
AQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHGIRAW                              281 - 324
//

Text Mined References (165)

PMID Year Title