Property Summary

Ligand Count 3
NCBI Gene PubMed Count 174
PubMed Score 985.04
PubTator Score 1340.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Fabry disease 11 8.923 4.0
Angiokeratoma 9 6.054 3.0
Disease Target Count
Hypohidrosis 34
Abdominal Pain 98
Abnormality of aortic valve 9
Abnormality of the renal tubule 7
Anemia 365
Angina Pectoris 32
Anorexia 43
Arthralgia 90
Arthritis 290
Atrioventricular block 35
Atrioventricular nodal disease 10
Autonomic nervous system disorders 19
Bundle-Branch Block 8
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cataract 297
Clouding of corneal stroma 50
Coarse facial features 108
Conduction disorder of the heart 79
Congestive heart failure 113
Conjunctival telangiectasis 14
Corneal Opacity 53
Corneal dystrophy 24
Delayed Puberty 97
Diarrhea 253
Dysautonomia 20
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Epilepsy 792
Fatigue 182
Full lower lip 64
Hand deformities 32
Heart failure 162
Hematuria 36
Hemoglobin low 124
Hyperkeratosis 50
Hyperlipidemia 43
Hypertensive disease 292
Impaired cognition 96
Increase in blood pressure 119
Kidney Diseases 114
Kidney Failure 111
Kidney damage 25
Left Ventricular Hypertrophy 47
Left ventricular septal hypertrophy 3
Lens Opacities 231
Lung Diseases, Obstructive 4
Lymphatic obstruction 21
Lymphedema 42
Malabsorption 82
Mental impairment 95
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Multiple, subcutaneous nodules 53
Muscle Cramp 55
Muscular fasciculation 22
Myalgia 54
Myocardial Infarction 151
Nausea 20
Nausea and vomiting 97
Nephrotic Syndrome 78
Onset of lymphedema around puberty 21
Optic Atrophy 242
Paresthesia 32
Prominent lower lip 64
Proteinuria 144
Pulmonary emphysema 48
Rectal tenesmus 1
Renal Insufficiency 90
Renal failure in adulthood 76
Seizures 596
Short stature 531
Subcutaneous nodule 53
Telangiectasia of the skin 39
Thickened facial skin with coarse facial features 108
Transient Cerebral Ischemia 25
Vomiting 116
X- linked recessive 110
Disease Target Count
Fabry's disease 2
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (7)

Disease log2 FC p
colon cancer 1.100 3.0e-03
fibroadenoma 1.100 7.8e-03
glioblastoma 1.300 1.1e-03
group 3 medulloblastoma 1.300 1.2e-04
intraductal papillary-mucinous neoplasm ... 1.100 7.6e-03
ovarian cancer -1.800 2.2e-11
subependymal giant cell astrocytoma 1.154 4.0e-02

Gene RIF (116)

AA Sequence

MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFM      1 - 70
EMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNK     71 - 140
TCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWP    141 - 210
FQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQ    211 - 280
VTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWA    281 - 350
VAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT    351 - 420
MQMSLKDLL                                                                 421 - 429
//

Text Mined References (190)

PMID Year Title