Property Summary

Ligand Count 12
NCBI Gene PubMed Count 562
PubMed Score 292.86
PubTator Score 2021.90

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hemangioma 69
Polycythemia 25
Abnormality of the cerebral vasculature 6
Abnormality of the liver 21
Abnormality of the retinal vasculature 59
Autosomal recessive predisposition 1442
Birthmark 35
Brain hemorrhage 14
Cafe-au-Lait Spots 37
Capillary hemangioma of retina 1
Cerebellar Ataxia 304
Cerebellar hemangioblastoma 1
Cerebellar hypoplasia and atrophy 41
Cerebral Hemorrhage 42
Cerebrovascular accident 63
Congenital Bilateral Cataracts 50
Congenital arteriovenous malformation 8
Congenital cataract 50
Congestive heart failure 113
Conventional (Clear Cell) Renal Cell Carcinoma 6
Dizziness 26
Elevated heart rate 25
Elevated urinary norepinephrine 5
Erythrocytosis 8
Fatigue 182
Florid red complexion (finding) 3
Gait abnormality 135
Headache 37
Heart failure 162
Hematocrit increased 5
Hemiplegia and hemiparesis 38
Hemoglobin increased 6
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydrocephalus 152
Hypercalcemia 59
Hyperhidrosis disorder 81
Hypertension, episodic 5
Hypertensive Retinopathy 14
Hypertensive disease 292
Hypotension 82
Increase in blood pressure 119
Increased red blood cell mass 4
Increased risk of pancreatic cancer 9
Increased sweating 81
Intermittent migraine headaches 68
Isolated cases 72
Kidney Neoplasm 29
Liver diseases 87
Low Vision 174
Malignant neoplasm of pancreas 9
Migraine Disorders 76
Multicystic Dysplastic Kidney 52
Multiple pancreatic cysts 4
Multiple renal cysts 5
Nausea and vomiting 97
Nystagmus 317
Pancreatic Cyst 4
Pancreatic Neoplasm 85
Papillary cystadenoma of the epididymis 3
Paraganglioma 15
Peripheral thrombosis 3
Phenotypic variability 150
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Positive regitine blocking test 5
Proteinuria 144
Pulmonary capillary hemangiomatosis 2
Renal Artery Stenosis 9
Renal Cell Carcinoma 214
Retinal Hemangioblastoma 1
Sensorineural Hearing Loss (disorder) 284
Sensory neuropathy 20
Speech Disorders 58
Spermatocele 4
Spinal hemangioblastoma 1
Strawberry nevus of skin 10
Sweating 81
Tachycardia 43
Telangiectasia of the skin 39
Tinnitus 19
Varicosity 12
Vertigo 29
Visceral angiomatosis 13
Visual Impairment 174
Disease Target Count P-value
ovarian cancer 8520 8.7e-14
diabetes mellitus 1728 1.2e-03
oligodendroglioma 2850 5.9e-03
astrocytic glioma 2597 7.7e-03
ependymoma 4679 9.4e-03
Disease Target Count Z-score Confidence
Cancer 2499 4.597 2.3
Primary polycythemia 8 0.0 4.0
Disease Target Count Z-score Confidence
Phaeochromocytoma 20 3.323 1.7

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytic glioma -1.100 7.7e-03
diabetes mellitus 2.100 1.2e-03
ependymoma -1.200 9.4e-03
oligodendroglioma -1.200 5.9e-03
ovarian cancer 1.500 8.7e-14

Protein-protein Interaction (8)

Gene RIF (486)

AA Sequence

MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSRE      1 - 70
PSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSL     71 - 140
NVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQR    141 - 210
MGD                                                                       211 - 213
//

Text Mined References (570)

PMID Year Title