Property Summary

Ligand Count 2
NCBI Gene PubMed Count 430
PubMed Score 959.12
PubTator Score 1131.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of cranial vault shape 5
Abnormality of cranium shape 5
Abnormality of dental color 5
Abnormality of head shape 5
Abnormality of metabolism/homeostasis 134
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Abnormality of vision 40
Abnormally small eyeball 97
Acquired scoliosis 281
Acute Promyelocytic Leukemia 40
Alopecia 115
Anemia, Hemolytic 55
Aortic coarctation 30
Aplasia/Hypoplasia of the abdominal wall musculature 17
Asymmetric chest 4
Asymmetric growth 5
Asymmetry of head 5
Asymmetry of the posterior cranium 20
Autoimmune thrombocytopenia 22
B-Cell Lymphomas 12
Basal cell carcinoma 54
Basal cell nevi 23
Biparietal narrowing 28
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Broad forehead 59
Broad nasal tip 28
Bulging forehead 66
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cerebellar hypoplasia and atrophy 41
Chubby cheeks 50
Coagulation abnormalities 27
Coarse hair 31
Coloboma of iris 38
Conduction disorder of the heart 79
Congenital melanocytic nevus 2
Congenital ocular coloboma (disorder) 40
Congenital pectus carinatum 52
Cranial asymmetry 5
Cranial nerve palsies 11
Cryptorchidism 296
Curly hair (finding) 14
Curvature of spine 282
Death in early childhood 82
Death in infancy 82
Decreased projection of midface 105
Decreased size of eyeball 97
Decreased to absent deep tendon reflexes 42
Decreased width of the skull 28
Deep philtrum 21
Defect of vertebral segmentation 17
Defective lymphocyte apoptosis 4
Delayed bone age 136
Dental abnormalities 60
Depressed philtrum 21
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 101
Enlarged thorax 18
Epilepsy 792
Everted lower lip vermilion 54
Excess nuchal skin 30
Exophthalmos 112
Facial asymmetry 32
Feeding difficulties in infancy 175
Fetal overgrowth 16
Fibrous skin tumor of tuberous sclerosis 18
Finger abnormalities 3
Flattening of cranial vault 20
Flattening of head 20
Follicular hyperplasia 4
Follicular thyroid carcinoma 14
Frequent fractures 53
Frontal bossing 157
Full cheeks 50
Full lower lip 64
GIANT PIGMENTED HAIRY NEVUS 2
Generalized hirsutism 36
Generalized hypotonia 37
Generalized osteopenia 99
Generalized overgrowth 16
Genu recurvatum 12
Globulin gamma serum plasma increased result 9
Hemangioma 69
Hemangioma, Cavernous 20
Hematologic Neoplasms 22
Hemimegalencephaly 5
Hemorrhagic Disorders 30
Hepatomegaly 285
Hereditary nonpolyposis colorectal carcinoma 18
High forehead 102
Horseshoe Kidney 16
Hypergammaglobulinemia 10
Hyperglobulinemia 9
Hyperkeratosis 50
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypophosphatemic Rickets 11
Hypopigmentation disorder 25
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Ichthyoses 41
Idiopathic thrombocytopenia 22
Immune thrombocytopenic purpura 24
Increased fracture rate 53
Increased gastric cancer 21
Intellectual disability 1016
Irregular hyperpigmentation 33
Isolated cases 72
Joint hyperflexibility 78
Kyphoscoliosis deformity of spine 60
Leiomyosarcoma of uterus 13
Leukemia 104
Long philtrum 137
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Lymphoproliferative Disorders 6
Malformation of cranial vault shape 5
Malformation of cranium shape 5
Malformation of head shape 5
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental Retardation 645
Mental deficiency 645
Mental deterioration 32
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Monocytosis 3
Muscle Weakness 170
Muscle hypotonia 571
NEVUS, EPIDERMAL (disorder) 5
Narrow nasal ridge 6
Neck webbing 35
Neutrophil count decreased 47
Nevus sebaceous 3
Noncancerous mole 28
Nonmedullary Thyroid Carcinoma 10
Numerous congenital melanocytic nevi 1
Numerous nevi 5
Open mouth 45
Orbital separation excessive 244
Osteopenia 99
Overgrowth 16
Pancytopenia 45
Papillary thyroid carcinoma 43
Pectus excavatum 100
Periorbital fullness 9
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Poor school performance 645
Porencephaly 20
Prenatal onset 139
Prominent back of the head 21
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent lower lip 64
Prominent occiput 21
Prominent premaxilla 3
Protruding eyes 96
Protruding lower lip 54
Puffy cheeks 50
Pulmonary artery stenosis 22
Raised level of immunoglobulins NOS 9
Renal Cell Carcinoma 214
Rhomboid shaped head 20
Rough hair texture 31
Round face 45
Round, full face 45
Sebaceous adenoma 26
Seizures 596
Short nose 132
Short stature 531
Small midface 105
Small nose 132
Somatic mosaicism 6
Stomach Neoplasms 300
Strabismus 270
Tall forehead 102
Telecanthus 62
Thickened helices 15
Toe abnormalities 4
Tooth Abnormalities 69
Transitional cell carcinoma of bladder 17
Triangular face 58
Varying degree of multiple fractures 53
Wide spaced nipples 46
gamma globulins increased 9
Disease Target Count Z-score Confidence
lung cancer 4740 0.0 1.3
Disease Target Count Z-score Confidence
Cancer 2499 6.113 3.1

Expression

  Differential Expression (9)

Disease log2 FC p
Breast cancer 4.500 2.2e-02
atypical teratoid / rhabdoid tumor 1.500 1.9e-05
glioblastoma 1.300 7.2e-05
group 3 medulloblastoma 1.200 1.9e-04
juvenile dermatomyositis 1.284 4.0e-12
osteosarcoma 2.411 5.1e-04
ovarian cancer 2.100 3.3e-05
pediatric high grade glioma 1.500 7.0e-05
primary pancreatic ductal adenocarcinoma 1.058 7.9e-03

Gene RIF (386)

AA Sequence

MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQ      1 - 70
YMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIP     71 - 140
FIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM                         141 - 189
//

Text Mined References (434)

PMID Year Title