Property Summary

Ligand Count 1
NCBI Gene PubMed Count 1,836
PubMed Score 5099.64
PubTator Score 3962.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count Z-score Confidence
Proteus syndrome 6 4.682 2.3
Autistic Disorder 364 3.989 2.0
Lipomatosis 12 3.674 1.8
Abnormalities, Multiple 13 0.0 0.0
Adenocarcinoma 122 0.0 0.0
Adenoma, Liver Cell 8 0.0 0.0
Anisometropia 14 0.0 0.0
Asthma 385 0.0 0.0
Breast Neoplasms 445 0.0 0.0
Carcinoma 11493 0.0 2.4
Carcinoma, Adenoid Cystic 99 0.0 0.0
Carcinoma, Hepatocellular 228 0.0 0.0
Carcinoma, Renal Cell 124 0.0 0.0
Carcinoma, squamous cell of head and neck 31 0.0 0.0
Cell Transformation, Neoplastic 97 0.0 0.0
Cholangiocarcinoma 35 0.0 0.0
Craniofacial Abnormalities 151 0.0 0.0
Developmental Disabilities 23 0.0 0.0
Disease Progression 136 0.0 0.0
Endometrial Hyperplasia 5 0.0 0.0
Endometrial Neoplasms 55 0.0 0.0
Fatty Liver 70 0.0 0.0
Glioma 74 0.0 0.0
Hamartoma Syndrome, Multiple 10 0.0 0.0
Hemangioma 69 0.0 0.0
Hypertension 396 0.0 0.0
Hypertrophy 17 0.0 0.0
Insulin Resistance 72 0.0 0.0
Intellectual disability 1016 0.0 0.0
LEOPARD syndrome 20 0.0 0.0
Language Development Disorders 11 0.0 0.0
Leukemia 104 0.0 0.0
Lipoma 32 0.0 0.0
Long QT syndrome 39 0.0 0.0
Lung Neoplasms 232 0.0 0.0
Lymphoma 81 0.0 0.0
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 1 0.0 0.0
Macrocephaly Autism Syndrome 1 0.0 0.0
Melanoma 711 0.0 1.3
Meningioma 41 0.0 0.0
Meningioma, familial 6 0.0 0.0
Motor Skills Disorders 8 0.0 0.0
Myocardial Reperfusion Injury 37 0.0 0.0
Neoplasm Invasiveness 161 0.0 0.0
Neoplasm Metastasis 168 0.0 0.0
Neurodevelopmental Disorders 70 0.0 0.0
Ovarian Neoplasms 102 0.0 0.0
Pancreatic Neoplasms 85 0.0 0.0
Polydactyly 107 0.0 0.0
Prostatic Intraepithelial Neoplasia 11 0.0 0.0
Prostatic Neoplasms 495 0.0 0.0
Reperfusion Injury 86 0.0 0.0
Sezary Syndrome 27 0.0 0.0
Skin Diseases 71 0.0 0.0
Small Cell Lung Carcinoma 41 0.0 0.0
Thyroid cancer, follicular 8 0.0 0.0
VACTERL Association With Hydrocephalus 3 0.0 0.0
nasopharyngeal carcinoma 1058 0.0 0.0
Disease Target Count
Papilloma 44
Abnormal lung lobation 10
Abnormal skeletal development 60
Abnormal subcutaneous fat tissue distribution 3
Abnormal vertebral bodies 16
Abnormality of metabolism/homeostasis 134
Abnormality of the large intestine 1
Abnormality of the parathyroid gland 1
Abnormality of the penis 7
Abnormally prominent line of Schwalbe 2
Abnormally-shaped vertebrae 31
Acanthosis Nigricans 27
Accessory nipple 11
Acquired scoliosis 281
Acrokeratosis 2
Action Tremor 22
Adenoid Cystic Carcinoma 99
Adult onset 82
Amblyopia 38
Angioid streaks 11
Angiokeratoma 9
Anus, Imperforate 46
Aqueductal Stenosis 5
Arachnodactyly 49
Asymmetric chest 4
Atypical nevi in non-sun exposed areas 1
Autosomal recessive predisposition 1442
Benign neoplasm of eye, unspecified 3
Big calvaria 147
Biparietal narrowing 28
Birth length greater than 97th percentile 5
Birthmark 35
Broad forehead 59
Byzanthine arch palate 194
CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME 2
Cachexia 50
Cafe au lait spots, multiple 17
Cafe-au-Lait Spots 37
Calvarial hyperostosis 5
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Cataract 297
Cerebellar Ataxia 304
Class III malocclusion 78
Cognitive delay 608
Colon diverticulum anatomic structure 15
Communicating Hydrocephalus 8
Concave bridge of nose 195
Congenital Heart Defects 58
Congenital anomaly of spine 16
Congenital arteriovenous malformation 8
Congenital bronchogenic cyst 3
Congenital deafness 185
Congenital heart disease 93
Congenital hypoplasia of kidney 32
Congenital macrodactylia 4
Conjunctival hamartoma 7
Cranial nerve palsies 11
Curvature of spine 282
Deafness 198
Decreased bone mineral density Z score 31
Decreased muscle mass 28
Decreased projection of maxilla 66
Decreased width of the skull 28
Deficiency of upper jaw bones 66
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dermatologic disorders 93
Dermoid choristoma of eye proper 3
Disorder of eye 27
Diverticular disease of colon 15
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysplastic Nevus 1
Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) 1
Endometrial carcinoma 15
Enlarged cerebellum 3
Enlargement of calvarial bones 5
Epilepsy 792
Excessive wrinkled skin 16
Exostoses 11
Eye Abnormalities 35
Familial meningioma 4
Fibroadenoma of breast 3
Fibrous skin tumor of tuberous sclerosis 18
Fissured tongue 25
Follicular thyroid carcinoma 14
Frontal bossing 157
GLIOMA SUSCEPTIBILITY 2 1
Gastrointestinal hamartomatous polyps 10
Gastrointestinal polyps 5
Genu recurvatum 12
Global developmental delay 608
Goiter 38
Gross motor development delay 21
Gynecomastia 64
Haemorrhage subcutaneous 10
Hamartomatous polyp 10
Hand polydactyly 11
Hashimoto Disease 4
Headache 37
Hearing Loss, Partial 185
Hemangioma, Cavernous 20
Hematochezia 9
Hepatocellular Adenoma 10
Hereditary Breast and Ovarian Cancer Syndrome 14
Heterochromia iridis 9
Hydrocephalus 152
Hyperkeratosis, generalized 14
Hyperkyphosis 111
Hyperostosis 18
Hypertensive disease 292
Hyperthyroidism 53
Hypertrophy of lower jaw 78
Hypoglycemia 152
Hypoplasia of the maxilla 66
Hypoplastic mandible condyle 275
Hypothyroidism 122
Hypotrophic maxilla 66
Impaired cognition 96
Increased head circumference 147
Increased ossification of calvarial bones 5
Increased size of cranium 147
Increased size of mandible 78
Increased size of penis 7
Increased size of skull 147
Intestinal Polyposis 6
Intracranial hypertension 32
Intussusception 5
Irregular hyperpigmentation 33
Kyphosis deformity of spine 114
Language Delay 112
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Leg Length Inequality 6
Lens Opacities 231
Liver carcinoma 240
Long narrow head 75
Long philtrum 137
Low intelligence 645
Lymphangioma 9
Lymphatic obstruction 21
Lymphedema 42
MELANOMA, CUTANEOUS MALIGNANT, 1 13
Macrocephaly, postnatal 2
Macroglossia 65
Macrotia 87
Macule 19
Malignant Squamous Cell Neoplasm 17
Malignant neoplasm of prostate 11
Mammary Neoplasms 425
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Marfanoid body habitus 11
Maxillary retrognathia 66
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Microstomia 78
Mucosal telangiectasiae 14
Multiple lipomata 7
Multiple vertebral anomalies 16
Multiple, subcutaneous nodules 53
Muscle hypotonia 571
Myopathy 185
Myopia 176
NEVUS, EPIDERMAL (disorder) 5
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nausea and vomiting 97
Nevus 19
Noncancerous mole 28
Nonmedullary Thyroid Carcinoma 10
Numerous nevi 5
Obesity 678
Onset of lymphedema around puberty 21
Open Bite 21
Orbital separation excessive 244
Osteochondrodysplasias 72
Ovarian Cysts 41
Palmoplantar keratosis 74
Pancreatic Neoplasm 85
Papule 43
Parathyroid Diseases 1
Pectus excavatum 100
Polymicrogyria 48
Polyp of large intestine 8
Poor school performance 645
Postnatal growth retardation 57
Progressive macrocephaly 18
Prostatic Intraepithelial Neoplasias 11
Proteus-Like Syndrome (disorder) 1
Pseudopapilledema 2
Pulmonary embolism 55
Pupillary abnormality 4
Range of joint movement increased 32
Renal Cell Carcinoma 214
Respiratory Failure 104
Retinal Detachment 51
Retrusion of upper jaw bones 66
Round face 45
Round, full face 45
Sebaceous adenoma 26
Seizures 596
Shagreen patch 3
Short nose 132
Short stature 531
Skin Diseases, Vascular 5
Skin tag 14
Small cell carcinoma of lung 45
Small nose 132
Speech Delay 112
Speech impairment 112
Squamous cell carcinoma 129
Squamous cell carcinoma of the head and neck 29
Stillbirth 17
Strabismus 270
Strawberry nevus of skin 10
Subcutaneous lipomas 9
Subcutaneous nodule 53
Syndactyly of fingers 48
Terminal tremor 20
Testicular Hydrocele 8
Thick corpus callosum 3
Thrombophlebitis 19
Thumb aplasia 16
Thyroid Gland Follicular Adenoma 9
Thyroid Neoplasm 37
Thyroiditis 29
Transitional cell carcinoma of bladder 17
Trichilemmoma 1
Turridolichocephaly 75
Upper limb asymmetry 3
Uveal melanoma 20
Varicocele 26
Vascular abnormalities restricted to skin 4
Venous insufficiency 9
Visceral angiomatosis 13
breast carcinoma 1638
hearing impairment 199
mandibular excess (physical finding) 78
ovarian neoplasm 99
Disease Target Count Z-score Confidence
Lipid metabolism disorder 114 0.0 0.8
Disease Target Count Z-score Confidence
Cancer 2499 7.258 3.6

Expression

  Differential Expression (16)

Disease log2 FC p
Breast cancer -1.300 4.7e-05
ovarian cancer -1.400 5.0e-05
acute quadriplegic myopathy 1.171 3.4e-07
adult high grade glioma -1.500 2.6e-05
atypical teratoid / rhabdoid tumor -1.200 2.6e-07
glioblastoma -1.100 6.5e-05
invasive ductal carcinoma -1.300 2.5e-04
juvenile dermatomyositis 1.165 9.8e-13
lung adenocarcinoma -1.500 1.3e-12
medulloblastoma, large-cell -1.300 3.9e-04
non-small cell lung cancer -1.140 2.7e-13
oligodendroglioma -1.400 4.5e-02
osteosarcoma -2.198 6.3e-04
pancreatic cancer 1.100 2.6e-02
pancreatic ductal adenocarcinoma liver m... -1.018 2.8e-03
tuberculosis 1.400 2.9e-04

Synonym

Accession P60484 B2R904 F2YHV0 O00633 O02679 Q6ICT7
Symbols BZS
DEC
CWS1
GLM2
MHAM
TEP1
MMAC1
PTEN1
10q23del
PTENbeta

Gene

Protein-protein Interaction (3)

Gene RIF (1772)

AA Sequence

MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNL      1 - 70
CAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLL     71 - 140
HRGKFLKAQEALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGT    141 - 210
CNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFI    211 - 280
PGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFKVKLYFTKT    281 - 350
VEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQITKV                     351 - 403
//

Text Mined References (1846)

PMID Year Title