Property Summary

NCBI Gene PubMed Count 67
PubMed Score 419.90
PubTator Score 321.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abdominal Pain 98
Abnormality of the penis 7
Adult onset 82
Anxiety (with pheochromocytoma) 3
Aphonia 3
Big calvaria 147
Carotid Body Paraganglioma 4
Cerebellar Ataxia 304
Cognitive delay 608
Congenital deafness 185
Conjunctival hamartoma 7
Constipation 181
Cranial nerve palsies 11
Deafness 198
Deglutition Disorders 132
Dull intelligence 645
Dyschezia 135
Elevated circulating catecholamine level 2
Elevated heart rate 25
Fatigue 182
Fibrous skin tumor of tuberous sclerosis 18
Fissured tongue 25
Gastrointestinal Hemorrhage 52
Gastrointestinal Neoplasms 7
Gastrointestinal hamartomatous polyps 10
Global developmental delay 608
Glomus Jugulare Tumor 4
Goiter 38
Hamartoma Syndrome, Multiple 10
Hamartomatous polyp 10
Headache (with pheochromocytoma) 3
Hearing Loss, Partial 185
Hemangioma, Cavernous 20
Hyperhidrosis disorder 81
Hyperkeratosis, generalized 14
Hyperpigmentation 37
Hypertension associated with pheochromocytoma 3
Impaired cognition 96
Increased gastric cancer 21
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Increased sweating 81
Intellectual disability 1016
Intestinal Obstruction 31
Isolated cases 72
Large hand 18
Lipoma 32
Low intelligence 645
Macroglossia 65
Macule 19
Melanocytic nevus 43
Meningioma 41
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Mucosal telangiectasiae 14
Multiple, subcutaneous nodules 53
Nausea and vomiting 97
Neurofibromatoses 5
Noncancerous mole 28
Palmoplantar keratosis 74
Palpitations 18
Papilloma 44
Papule 43
Paraganglioma 15
Pheochromocytoma 24
Pheochromocytoma, Extra-Adrenal 2
Polyp of large intestine 8
Poor school performance 645
Sarcoma 62
Sebaceous adenoma 26
Stomach Neoplasms 300
Subcutaneous nodule 53
Sweating 81
Tachycardia 43
Tinnitus 19
Urticaria 67
Vocal Cord Paralysis 7
Weight decreased 103
breast carcinoma 1638
hearing impairment 199

Expression

Gene RIF (52)

AA Sequence

MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYSWSLPMAMSIC      1 - 70
HRGTGIALSAGVSLFGMSALLLPGNFESYLELVKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLG     71 - 140
KGLKIPQLYQSGVVVLVLTVLSSMGLAAM                                             141 - 169
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Text Mined References (70)

PMID Year Title