Property Summary

NCBI Gene PubMed Count 581
PubMed Score 4465.35
PubTator Score 2551.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Acquired scoliosis 281
Adrenocortical cytomegaly 3
Advanced bone age 35
Alzheimer's disease 658
Asymmetric chest 4
Bilateral fifth finger clinodactyly 110
Birthmark 35
Blue sclera 32
Bulging forehead 66
Cafe-au-Lait Spots 37
Cardiomegaly 116
Cardiomyopathies 110
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Coarse facial features 108
Cognitive delay 608
Congenital ear anomaly NOS (disorder) 29
Congenital hemihypertrophy 6
Congenital omphalocele 20
Congenital posterior urethral valves 2
Craniofacial disproportion 3
Craniopharyngioma 16
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Delayed bone age 136
Dental abnormalities 60
Diaphragmatic Hernia 40
Diastasis recti 9
Downturned corners of mouth 48
Enlarged kidney 14
Exophthalmos 112
Facial asymmetry 32
Fasting Hypoglycemia 8
Feeding difficulties in infancy 175
Fetal overgrowth 16
Foot Deformities 30
Frontal bossing 157
Generalized overgrowth 16
Global developmental delay 608
Gonadoblastoma 34
Hepatomegaly 285
Hypoplastic mandible condyle 275
Increased hepatocellular carcinoma risk 27
Increased incidence of hepatocellular carcinoma 27
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated cases 72
Isolated somatotropin deficiency 30
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Late fontanel closure 28
Liver carcinoma 240
Low Birth Weights 69
Low set ears 181
Macroglossia 65
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental and motor retardation 608
Micrognathism 275
Mild Mental Retardation 70
Motor delay 147
Muscle hypotonia 571
Neonatal hypoglycemia 17
No development of motor milestones 147
Noncancerous mole 28
Overgrowth 16
Overgrowth of external genitalia 3
Pancreatic hyperplasia 3
Penile hypospadias 106
Placenta Disorders 4
Prominent back of the head 21
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent occiput 21
Protruding eyes 96
Relative macrocephaly 12
Russell-Silver syndrome 4
Schizophrenia 1160
Seminoma 15
Short distal phalanx (5th finger) 2
Short middle phalanx of the 5th finger 13
Short stature 531
Small for gestational age (disorder) 69
Somatic mutation 61
Spontaneous abortion 113
Syndactyly 88
Thickened facial skin with coarse facial features 108
Tooth Abnormalities 69
Triangular face 58
Underweight 17
Ureteral anomalies 5
Weight decreased 103
Weight less than 3rd percentile 17
Wide bregma sutures 46
X- linked recessive 110
prenatal alcohol exposure 5
Disease Target Count Z-score Confidence
Type 1 diabetes mellitus 109 0.0 2.4
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 5.0
Rigid spine muscular dystrophy 1 14 0.0 5.0

Expression

  Differential Expression (22)

Disease log2 FC p
adrenocortical carcinoma 2.279 6.2e-03
Astrocytoma, Pilocytic 1.800 9.5e-03
autosomal dominant Emery-Dreifuss muscul... 1.652 2.1e-02
Becker muscular dystrophy 1.441 2.9e-02
breast carcinoma -1.600 4.7e-13
cystic fibrosis 4.100 2.5e-05
Duchenne muscular dystrophy 2.297 4.8e-07
ependymoma 4.400 5.9e-17
intraductal papillary-mucinous adenoma (... -2.300 2.2e-05
intraductal papillary-mucinous carcinoma... -2.000 1.2e-04
intraductal papillary-mucinous neoplasm ... -1.700 3.3e-03
invasive ductal carcinoma -2.300 6.8e-03
juvenile dermatomyositis 1.556 6.9e-06
limb girdle muscular dystrophy 2A 1.424 1.3e-03
lung cancer -2.300 5.2e-03
malignant mesothelioma -1.700 7.7e-07
medulloblastoma 2.300 1.2e-02
medulloblastoma, large-cell 2.400 7.5e-03
ovarian cancer 1.600 4.8e-02
Pick disease 1.800 7.0e-03
pituitary cancer -4.700 2.2e-13
psoriasis -1.400 1.3e-04

Gene RIF (517)

AA Sequence

MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEEC      1 - 70
CFRSCDLALLETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGH     71 - 140
VLAKELEAFREAKRHRPLIALPTQDPAHGGAPPEMASNRK                                  141 - 180
//

Text Mined References (586)

PMID Year Title