Property Summary

NCBI Gene PubMed Count 185
PubMed Score 173.92
PubTator Score 696.56

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
subependymal giant cell astrocytoma 2287
Intellectual disability 1016
Abdominal Pain 98
Abnormal behavior 52
Abnormality of female internal genitalia 13
Abnormality of the respiratory system 4
Achromatic retinal patches 2
Adult onset 82
Angiofibroma 7
Angiomyolipoma of kidney 4
Astrocytosis 4
Atelectasis 8
Attention deficit hyperactivity disorder 278
Birthmark 35
Cafe au lait spots, multiple 17
Cafe-au-Lait Spots 37
Cardiac rhabdomyoma 5
Cerebral calcification 43
Chest Pain 38
Chordoma 7
Chylothorax 2
Cognitive delay 608
Complex partial seizure with impairment of consciousness 9
Complex partial seizures 9
Confetti-like hypopigmented macules 3
Cortical Dysplasia 13
Cortical tubers 2
Coughing 25
Cystic kidney 30
Dull intelligence 645
Dyspnea 76
Electroencephalogram abnormal 101
Fibromatosis, Gingival 8
Fibrous skin tumor of tuberous sclerosis 18
Focal white matter lesions 3
Global developmental delay 608
Hematuria 36
Hemiparesis 34
Hereditary gingival fibromatosis 8
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypomelanotic macule 3
Hypothyroidism 122
Idiopathic gingival hyperplasia 8
Impaired cognition 96
Infantile Spasm 4
Infantile onset 238
Infiltrate of lung 17
Isolated cases 72
Liver carcinoma 240
Low intelligence 645
Lymphadenopathy 62
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Multiple, subcutaneous nodules 53
Optic Atrophy 242
Optic nerve glioma 4
PULMONARY LYMPHANGIOMYOMATOSIS 2
Papule 43
Periungual fibroma 2
Phenotypic variability 150
Pitted dental enamel 3
Pneumothorax 23
Poor school performance 645
Port-Wine Stain 8
Precocious Puberty 28
Premature chromatid separation 2
Projection of scalp hair onto the lateral cheek 1
Prominent back of the head 21
Prominent occiput 21
Pulmonary emphysema 48
Renal cyst 30
Restrictive lung disease 11
Restrictive ventilatory defect 11
Retinal hamartoma 2
Sebaceous adenoma 26
Shagreen patch 3
Skin tag 14
Specific learning disability 47
Subcutaneous nodule 53
Subependymal nodules 2
Subungual fibroma 2
TUBEROUS SCLEROSIS 1 (disorder) 3
West Syndrome 28
Wolff-Parkinson-White syndrome 19
astrocytoma 1146
ependymoma 4679
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Disease Target Count Z-score Confidence
psoriasis 6694 0.0 0.9
Disease Target Count Z-score Confidence
Urinary bladder cancer 36 0.0 5.0

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma -1.100 4.1e-07
adult high grade glioma -1.400 2.2e-05
atypical teratoid / rhabdoid tumor -1.400 2.3e-06
glioblastoma -1.600 4.2e-04
medulloblastoma, large-cell -2.000 3.5e-07
ovarian cancer -2.100 9.5e-14

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (148)

AA Sequence

MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDK      1 - 70
HLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITML     71 - 140
PMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMK    141 - 210
ENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQ    211 - 280
ISARFPHRSADVTTSPYADTQNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPS    281 - 350
MVCGMTTPPTSPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR    351 - 420
KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEAAISRELSEIT    421 - 490
TAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSLDKLGPDTPKQAFTPIDLPCG    491 - 560
SADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQPPPYDHLFEVALPKTAHHFVIRKTEELLKK    561 - 630
AKGNTEEDGVPSTSPMEVLDRLIQQGADAHSKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHN    631 - 700
QLLYERFKRQQHALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDT    701 - 770
MVTKLHSQIRQLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES    771 - 840
VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQRLDTSQKRIL    841 - 910
ELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFELEILDLYGRLEKDGLLKKLEE    911 - 980
EKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKTPRPSSARGSSGSRGGGGSSSSSSELSTPEK    981 - 1050
PPHQRAGPFSSRWETTMGEASASIPTTVGSLPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTE   1051 - 1120
LGKDLGVEAKIPLNLDGPHPSPPTPDSVGQLHIMDYNETHHEHS                             1121 - 1164
//

Text Mined References (198)

PMID Year Title