Property Summary

NCBI Gene PubMed Count 168
PubMed Score 631.03
PubTator Score 470.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal development of end part of bone 14
Adrenal hypoplasia 12
Adrenocortical cytomegaly 3
Advanced bone age 35
Bulging forehead 66
Cardiomegaly 116
Cardiomyopathies 110
Coarse facial features 108
Concave bridge of nose 195
Congenital ear anomaly NOS (disorder) 29
Congenital hemihypertrophy 6
Congenital hypoplasia of penis 176
Congenital omphalocele 20
Cryptorchidism 296
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diastasis recti 9
Enlarged kidney 14
Epiphyseal dysplasia 14
Exophthalmos 112
Fetal Growth Retardation 189
Fetal overgrowth 16
Frontal bossing 157
Generalized overgrowth 16
Gonadoblastoma 34
Hepatoblastoma 19
Hepatomegaly 285
Hydronephrosis 89
Hypercalcemia 59
Hypercalciuria 27
Hypogonadism 173
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated somatotropin deficiency 30
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Low set ears 181
Macroglossia 65
Micromelia 58
Muscle hypotonia 571
Neonatal hypoglycemia 17
Nephroblastoma 51
Overgrowth 16
Overgrowth of external genitalia 3
Pancreatic hyperplasia 3
Penile hypospadias 106
Postnatal growth retardation 57
Prominent back of the head 21
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent occiput 21
Protruding eyes 96
Pyle metaphyseal dysplasia 8
Schizophrenia 1160
Short nose 132
Short stature 531
Small adrenal gland 12
Small nose 132
Small testicle 75
Thickened facial skin with coarse facial features 108
Wide bregma sutures 46
adrenocortical carcinoma 1428
Disease Target Count Z-score Confidence
IMAGe syndrome 8 5.96 3.0

Expression

  Differential Expression (30)

Disease log2 FC p
adrenocortical carcinoma -2.458 2.0e-04
active ulcerative colitis 1.204 4.8e-02
aldosterone-producing adenoma -1.370 2.2e-03
Atopic dermatitis -1.100 2.1e-03
Breast cancer -1.200 1.5e-09
breast carcinoma -2.000 5.5e-06
chronic rhinosinusitis -1.558 7.6e-03
Common variable immunodeficiency -1.223 1.4e-02
Down syndrome 1.100 1.4e-02
ductal carcinoma in situ -1.900 3.2e-04
ependymoma -1.800 4.9e-02
fibroadenoma -1.300 2.9e-03
gastric cancer -1.100 1.1e-02
group 4 medulloblastoma -1.800 1.3e-02
head and neck cancer -1.300 7.9e-05
intraductal papillary-mucinous adenoma (... -1.300 1.1e-02
intraductal papillary-mucinous carcinoma... -1.900 5.2e-03
invasive ductal carcinoma -1.052 2.9e-03
lung adenocarcinoma -1.800 1.1e-09
malignant mesothelioma 3.100 1.5e-07
non primary Sjogren syndrome sicca 1.100 1.6e-02
non-small cell lung cancer -1.097 8.8e-10
osteosarcoma 1.690 3.1e-02
ovarian cancer -1.200 1.4e-07
pancreatic cancer -1.900 2.6e-04
pancreatic carcinoma -1.900 2.6e-04
pituitary cancer -1.400 5.5e-04
psoriasis -1.100 1.0e-05
subependymal giant cell astrocytoma -2.358 8.5e-03
tuberculosis 1.200 6.2e-03

 GO Component (2)

Gene RIF (146)

AA Sequence

MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMP      1 - 70
LRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVP     71 - 140
VPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAP    141 - 210
APAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRK    211 - 280
RSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR                                      281 - 316
//

Text Mined References (166)

PMID Year Title