Property Summary

NCBI Gene PubMed Count 149
PubMed Score 216.22
PubTator Score 1006.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal sex determination 11
Abnormalities of placenta or umbilical cord 1
Abnormality of metabolism/homeostasis 134
Abnormality of the abdomen 14
Abnormality of the endocrine system 9
Abnormality of the labia majora 2
Abnormality of the menstrual cycle 4
Absence of secondary sex characteristics 22
Acquired scoliosis 281
Adrenocorticotropic hormone excess 5
Adrenogenital Syndrome 6
Advanced bone age 35
Ambiguous Genitalia 24
Ambiguous genitalia due to virilization 9
Ambiguous genitalia, female 9
Ambiguous genitalia, male 9
Antley-Bixler Syndrome with Disordered Steroidogenesis 1
Arachnodactyly 49
Arnold Chiari Malformation 11
Atresia of vagina 10
Atrial Septal Defects 85
Auricular malformation 41
Autosomal recessive predisposition 1442
Bifid scrotum 16
Bladder Neoplasm 112
Brachycephaly 88
Broad cranium shape 88
Bronchomalacia 7
Carpal synostosis 12
Choanal Atresia 42
Choanal stenosis 11
Chordee 6
Cloverleaf cranium shape 6
Cloverleaf skull 7
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Camptodactyly 40
Congenital adrenal hyperplasia 73
Congenital anomaly of the kidney 12
Congenital clinodactyly 57
Congenital hemivertebra 25
Congenital hypoplasia of penis 176
Contracture 96
Contracture of joint 93
Contracture of joint of hand 30
Coronal craniosynostosis 14
Craniosynostosis 74
Cryptorchidism 296
Curvature of digit 57
Curvature of spine 282
Decreased fertility in females 20
Decreased male fertility 7
Decreased projection of midface 105
Decreased testosterone level 4
Deficiency of testosterone biosynthesis 6
Delayed Puberty 97
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Ectopic adrenal gland 2
Endocrine System Diseases 11
Enlarged polycystic ovaries 10
Exophthalmos 112
Female external genitalia in males 13
Female sexual dysfunction 2
Femoral bowing 20
Flexion contracture 93
Flexion contractures of joints 93
Frontal bossing 157
Fused labia minora 5
Generalized hyperpigmentation 22
Horseshoe Kidney 16
Hydrocephalus 152
Hyperpigmented genitalia 3
Hypertrophy of clitoris 40
Hypoplasia of scrotum 24
Hypoplasia of vagina 14
Hypospadias, perineal 5
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased circulating ACTH level 8
Increased serum testosterone level 4
Increased testosterone 4
Intellectual disability 1016
Labial hypoplasia 3
Laryngomalacia 14
Long philtrum 137
Low Birth Weights 69
Low intelligence 645
Low maternal serum estriol 2
Low serum estradiol levels 22
Low serum testosterone levels 4
Low set ears 181
Low to undetectable plasma cortisol 12
Malar flattening 129
Male Pseudohermaphroditism 19
Maternal oligohydramnios 31
Maternal virilization in pregnancy 2
Mental Retardation 645
Mental deficiency 645
Midface retrusion 105
Narrow pelvis 6
Narrow thorax 53
Narrowing of ear canal 13
Neoplastic Cell Transformation 89
Oligohydramnios 52
Orbital separation excessive 244
Osteoporosis 363
Pear-shaped nose 2
Penile hypospadias 106
Penile melanosis 3
Polycystic ovary syndrome 360
Poor school performance 645
Premature adrenarche 3
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Radiohumeral synostosis of elbow 8
Radioulnar synostosis 35
Ramer Ladda syndrome 8
Rudimentary vagina 14
Sclerocystic Ovaries 17
Short stature 531
Simple ear 41
Skull malformation 38
Small for gestational age (disorder) 69
Small head 374
Small labia majora 16
Small midface 105
Small testicle 75
Stenosis of external auditory canal 13
Synostotic Posterior Plagiocephaly 8
Tall stature 34
Tarsal Coalition 12
Ulnar bowing 10
Upper airway obstruction 6
Urogenital sinus anomaly 15
Vertical Talus 25
Vesicovaginal Fistula 2
Wide anterior fontanel 44
Wide skull shape 88
menstrual abnormality 4
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Antley-Bixler syndrome 16 4.773 2.4
Disease Target Count Z-score Confidence
Acute cor pulmonale 5 3.516 1.8
Cancer 2499 3.051 1.5

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytoma 1.300 2.5e-02
malignant mesothelioma 1.200 2.3e-05
ovarian cancer 1.200 1.4e-03
pancreatic ductal adenocarcinoma liver m... -2.101 1.6e-02
pituitary cancer -1.500 6.4e-05
psoriasis 2.600 2.1e-05
tuberculosis -1.100 2.5e-06

Gene RIF (104)

AA Sequence

MGDSHVDTSSTVSEAVAEEVSLFSMTDMILFSLIVGLLTYWFLFRKKKEEVPEFTKIQTLTSSVRESSFV      1 - 70
EKMKKTGRNIIVFYGSQTGTAEEFANRLSKDAHRYGMRGMSADPEEYDLADLSSLPEIDNALVVFCMATY     71 - 140
GEGDPTDNAQDFYDWLQETDVDLSGVKFAVFGLGNKTYEHFNAMGKYVDKRLEQLGAQRIFELGLGDDDG    141 - 210
NLEEDFITWREQFWPAVCEHFGVEATGEESSIRQYELVVHTDIDAAKVYMGEMGRLKSYENQKPPFDAKN    211 - 280
PFLAAVTTNRKLNQGTERHLMHLELDISDSKIRYESGDHVAVYPANDSALVNQLGKILGADLDVVMSLNN    281 - 350
LDEESNKKHPFPCPTSYRTALTYYLDITNPPRTNVLYELAQYASEPSEQELLRKMASSSGEGKELYLSWV    351 - 420
VEARRHILAILQDCPSLRPPIDHLCELLPRLQARYYSIASSSKVHPNSVHICAVVVEYETKAGRINKGVA    421 - 490
TNWLRAKEPAGENGGRALVPMFVRKSQFRLPFKATTPVIMVGPGTGVAPFIGFIQERAWLRQQGKEVGET    491 - 560
LLYYGCRRSDEDYLYREELAQFHRDGALTQLNVAFSREQSHKVYVQHLLKQDREHLWKLIEGGAHIYVCG    561 - 630
DARNMARDVQNTFYDIVAELGAMEHAQAVDYIKKLMTKGRYSLDVWS                           631 - 677
//

Text Mined References (156)

PMID Year Title