Property Summary

Ligand Count 11
NCBI Gene PubMed Count 652
PubMed Score 9975.82
PubTator Score 1733.76

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Intellectual disability 1016
Abnormal dermatoglyphic pattern 24
Abnormality of cranial vault shape 5
Abnormality of cranium shape 5
Abnormality of dental color 5
Abnormality of head shape 5
Abnormality of the fingernails 51
Abnormality of vision 40
Abnormally small eyeball 97
Acanthosis Nigricans 27
Acoustic neuroma 11
Adenocarcinoma of lung (disorder) 60
Adenoid Cystic Carcinoma 99
Afro-textured hair 13
Alopecia 115
Animal Mammary Neoplasms 136
Anteverted nostril 191
Aortic coarctation 30
Arnold-Chiari Malformation, Type I 5
Asymmetric growth 5
Asymmetry of head 5
Asymmetry of the posterior cranium 20
Atrial Septal Defects 85
Barrel chest 12
Basal cell carcinoma 54
Basal cell nevi 23
Big calvaria 147
Biparietal narrowing 28
Bladder Neoplasm 112
Blepharoptosis 231
Bronchomalacia 7
Byzanthine arch palate 194
Carcinoma of bladder 2
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardio-facio-cutaneous syndrome 6
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Chubby cheeks 50
Coarse facial features 108
Cognitive delay 608
Coloboma of iris 38
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital ocular coloboma (disorder) 40
Congenital pectus carinatum 52
Contracture of tendo achilles 10
Costello syndrome (disorder) 6
Cranial asymmetry 5
Cryptorchidism 296
Curly hair (finding) 14
Decreased size of eyeball 97
Decreased to absent deep tendon reflexes 42
Decreased width of the skull 28
Deep palmar crease 8
Deep plantar creases 5
Deep-set nails 2
Defect of vertebral segmentation 17
Defective tooth enamel 31
Degenerative brain disorder 100
Delayed bone age 136
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Dystrophic tooth enamel 31
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 101
Enamel abnormalities 31
Enlarged cerebellum 3
Epilepsy 792
Excess nuchal skin 30
Facial asymmetry 32
Failure to gain weight 365
Failure to thrive in infancy 32
Fetal overgrowth 16
Fibrous skin tumor of tuberous sclerosis 18
Finger abnormalities 3
Flattening of cranial vault 20
Flattening of head 20
Fragile nails 16
Frequent fractures 53
Frontal bossing 157
Full cheeks 50
Full lower lip 64
Gastroesophageal reflux disease 110
Generalized osteopenia 99
Generalized overgrowth 16
Genu recurvatum 12
Global developmental delay 608
Heartburn 78
Hemangioma 69
Hemangioma, Cavernous 20
Hemimegalencephaly 5
Hepatocellular Adenoma 10
Hoarseness 31
Horseshoe Kidney 16
Hydrocephalus 152
Hyperextensible digits 7
Hyperkeratosis 50
Hyperpigmentation 37
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophic Cardiomyopathy 117
Hypertrophy of cheeks 50
Hypoglycemia 152
Hypophosphatemic Rickets 11
Hypopigmentation disorder 25
Hypoplastic mandible condyle 275
Hypoplastic toenails 22
Ichthyoses 41
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Irregular hyperpigmentation 33
Isolated cases 72
Joint hyperflexibility 78
Keratoconus 113
Kinky hair texture 13
Koilonychia 7
Kyphoscoliosis deformity of spine 60
Lack of skin elasticity 10
Limited elbow movement 6
Liver carcinoma 240
Low intelligence 645
Low set ears 181
Macroglossia 65
Malformation of cranial vault shape 5
Malformation of cranium shape 5
Malformation of head shape 5
Mammary Neoplasms 425
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microphthalmos 100
Mitral Valve Prolapse Syndrome 39
Muscle hypotonia 571
Nappy hair texture 13
Narrow palate 20
Neck webbing 35
Neoplastic Cell Transformation 89
Nevus 19
Nevus sebaceous 3
Noncancerous mole 28
Orbital separation excessive 244
Osteopenia 99
Overgrowth 16
Papillary thyroid carcinoma 43
Pediatric failure to thrive 365
Phacomatosis pigmentokeratotica 1
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Pneumothorax 23
Pointed chin 33
Polyhydramnios 108
Poor school performance 645
Poor suck 17
Porencephaly 20
Posteriorly rotated ear 61
Premature Birth 77
Premature birth of newborn 67
Prominent back of the head 21
Prominent lower lip 64
Prominent occiput 21
Puffy cheeks 50
Pulmonary Stenosis 45
Pyloric Stenosis 47
Redundant neck skin 4
Redundant skin 28
Respiratory Failure 104
Rhabdomyosarcoma 39
Rhomboid shaped head 20
Sebaceous adenoma 26
Seizures 596
Short neck 140
Short stature 531
Sleep Apnea, Obstructive 10
Somatic mosaicism 6
Sparse hair 59
Squamous cell carcinoma 129
Strabismus 270
Stretched skin 10
Sudden death 16
Supratentorial atrophy 94
Telecanthus 62
Thickened Achilles tendon 2
Thickened facial skin with coarse facial features 108
Thin nails 5
Thin, sparse hair 59
Thyroid Neoplasm 37
Toe abnormalities 4
Tooth Abnormalities 69
Tracheomalacia 22
Ulnar deviation of the fingers 21
Varying degree of multiple fractures 53
Ventricular Septal Defects 119
Wide anterior fontanel 44
Wooly hair 17
Disease Target Count P-value
ovarian cancer 8520 7.8e-06
lung cancer 4740 8.1e-04
astrocytic glioma 2597 8.0e-03
Disease Target Count Z-score Confidence
Cancer 2499 7.826 3.9

Expression

  Differential Expression (3)

Disease log2 FC p
lung cancer 1.100 8.1e-04
astrocytic glioma -1.100 8.0e-03
ovarian cancer 1.600 7.8e-06

PDB (147)

Gene RIF (477)

AA Sequence

MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQ      1 - 70
YMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIP     71 - 140
YIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS                         141 - 189
//

Text Mined References (661)

PMID Year Title