Property Summary

NCBI Gene PubMed Count 138
PubMed Score 348.18
PubTator Score 249.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abdominal Pain 98
Abnormal mitochondria in muscle tissue 20
Abnormality of mitochondrial metabolism 9
Abnormality of the penis 7
Adult onset 82
Anxiety (with pheochromocytoma) 3
Aphonia 3
Autosomal recessive predisposition 1442
Babinski Reflex 100
Big calvaria 147
Birthmark 35
Blepharoptosis 231
Brain hemorrhage 14
COWDEN-LIKE SYNDROME (disorder) 2
Cafe-au-Lait Spots 37
Carcinoid tumor of intestine 1
Cardiomyopathy, Dilated 83
Carotid Body Paraganglioma 4
Cerebellar Ataxia 304
Cerebral Hemorrhage 42
Cognitive delay 608
Conductive hearing loss 123
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congenital deafness 185
Congestive heart failure 113
Conjunctival hamartoma 7
Contracture 96
Contracture of joint 93
Cranial nerve palsies 11
Deafness 198
Decreased activity of mitochondrial complex II 3
Deglutition Disorders 132
Developmental regression 95
Dull intelligence 645
Dystonia 164
Dystonic disease 106
Elevated circulating catecholamine level 2
Elevated heart rate 25
Elevated urinary norepinephrine 5
Epilepsy 792
Fibrous skin tumor of tuberous sclerosis 18
Fissured tongue 25
Flexion contracture 93
Flexion contractures of joints 93
Gastrointestinal Hemorrhage 52
Gastrointestinal Neoplasms 7
Gastrointestinal Stromal Tumors 48
Gastrointestinal hamartomatous polyps 10
Global developmental delay 608
Glomus Jugulare Tumor 4
Glomus vagale tumor 2
Goiter 38
Hamartoma Syndrome, Multiple 10
Hamartomatous polyp 10
Headache (with pheochromocytoma) 3
Hearing Loss, Partial 185
Heart failure 162
Hemangioma 69
Hemangioma, Cavernous 20
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypercalcemia 59
Hyperhidrosis disorder 81
Hyperkeratosis, generalized 14
Hyperreflexia 209
Hypertension associated with pheochromocytoma 3
Hypertension, episodic 5
Hypertensive Retinopathy 14
Hypertrophic Cardiomyopathy 117
Impaired cognition 96
Impaired exercise tolerance 42
Increased head circumference 147
Increased intramyocellular lipid droplets 13
Increased serum lactate 60
Increased size of cranium 147
Increased size of skull 147
Increased sweating 81
Infantile onset 238
Intellectual disability 1016
Intestinal Obstruction 31
Intestinal carcinoid 1
Left ventricular noncompaction 26
Leukoencephalopathies 29
Leukoencephalopathy, progressive 2
Lipoma 32
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Macroglossia 65
Macule 19
Malignant Carcinoid Syndrome 1
Melanocytic nevus 43
Meningioma 41
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mental impairment 95
Mucosal telangiectasiae 14
Multiple, subcutaneous nodules 53
Muscle Spasticity 195
Muscle Weakness 170
Myoclonus 74
Neonatal Hypotonia 64
Neurodevelopmental regression 95
Noncancerous mole 28
Nystagmus 317
Ophthalmoplegia 106
Optic Atrophy 242
Palmoplantar keratosis 74
Palpitations 18
Papilloma 44
Papule 43
Phenotypic variability 150
Polyp of large intestine 8
Poor school performance 645
Positive regitine blocking test 5
Proteinuria 144
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Ragged-red fibers 21
Renal Artery Stenosis 9
Renal Cell Carcinoma 214
Respiratory complex II deficiency 3
Retinitis Pigmentosa 226
Sebaceous adenoma 26
Seizures 596
Short stature 531
Stress/infection-induced lactic acidosis 2
Subcutaneous nodule 53
Sweating 81
Tachycardia 43
Thyroid Neoplasm 37
Tinnitus 19
Tympanic nerve tumors (glomus tympanicum) 2
Uterine Fibroids 3
Visual Impairment 174
Vocal Cord Paralysis 7
Weight decreased 103
breast carcinoma 1638
hearing impairment 199
Disease Target Count P-value
psoriasis 6694 7.8e-04
ovarian cancer 8520 5.2e-03
pancreatic ductal adenocarcinoma liver metastasis 1962 2.5e-02
Breast cancer 3578 3.5e-02
Disease Target Count Z-score Confidence
Gastrointestinal stromal tumor 62 4.766 2.4

Expression

  Differential Expression (4)

Disease log2 FC p
Breast cancer 2.700 3.5e-02
ovarian cancer -1.100 5.2e-03
pancreatic ductal adenocarcinoma liver m... -1.367 2.5e-02
psoriasis 1.100 7.8e-04

 GWAS Trait (1)

Protein-protein Interaction (9)

Gene RIF (118)

AA Sequence

MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSER      1 - 70
VVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLC     71 - 140
YFNYHDVGICKAVAMLWKL                                                       141 - 159
//

Text Mined References (145)

PMID Year Title