Property Summary

NCBI Gene PubMed Count 806
PubMed Score 2432.32
PubTator Score 2416.67

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Lipodystrophy 40
diabetes mellitus 1728
Abnormal pigmentation 25
Abnormality of the face 10
Absence of subcutaneous fat 3
Absence of subcutaneous fat over entire body except buttocks, hips, and thighs 1
Acanthosis Nigricans 27
Acromegaly 51
Advanced bone age 35
Arthralgia 90
Arthritis 290
Autoimmune Diseases 67
Autosomal recessive predisposition 1442
Babinski Reflex 100
Bone Cysts 12
Broad feet 19
CREST Syndrome 16
Cerebellar Dysmetria 56
Class III malocclusion 78
Clonus 18
Congenital Bilateral Cataracts 50
Congenital anomaly of face 56
Congenital cataract 50
Contracture 96
Contracture of joint 93
Decreased subcutaneous adipose tissue 13
Deglutition Disorders 132
Dental caries 164
Diffuse Scleroderma 7
Disorder of face 10
Distal sensory impairment 52
Dull intelligence 645
Dyspareunia 12
Dyspnea 76
Flexion contracture 93
Flexion contractures of joints 93
Gait Ataxia 51
Gastroesophageal reflux disease 110
Generalized hirsutism 36
Growth hormone excess 14
Heartburn 78
Hepatomegaly 285
Hepatosplenomegaly 22
Highly variable severity 157
Hirsutism 47
Hypercholesterolemia 44
Hyperhidrosis disorder 81
Hyperinsulinism 133
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertensive disease 292
Hypertriglyceridemia result 37
Hypertrophic Cardiomyopathy 117
Hypertrophy of lower jaw 78
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypocalcemia 32
Hypotension, Orthostatic 18
Idiopathic pulmonary arterial hypertension 40
Impaired glucose tolerance 28
Increased size of mandible 78
Increased sweating 81
Infiltrate of lung 17
Insulin Resistance 72
Intellectual disability 1016
Large hand 18
Lipoatrophic Diabetes Mellitus 5
Lipoatrophy 19
Liver Failure 73
Low intelligence 645
Lytic lesion 32
Malabsorption 82
Mammary Neoplasms 425
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Monoparesis - leg 27
Mucosal telangiectasiae 14
Muscle Weakness 170
Narrow foramen obturatorium 5
Nausea and vomiting 97
Nystagmus 317
Oliguria 8
Pancreatitis 123
Poor school performance 645
Precocious Puberty 28
Prominent supraorbital ridges 19
Pulmonary Fibrosis 106
Pulmonary hypertension 85
Retinitis Pigmentosa 226
Rotting teeth 73
Schizophrenia 1160
Scleroderma, Limited 6
Serum cholesterol raised 22
Short stature 531
Skeletal muscle hypertrophy 16
Skin Ulcer 48
Steatohepatitis 44
Sweating 81
Telangiectasia of the skin 39
Variable expressivity 157
Vascular resistance pulmonary increased 3
Weakness of lower limb 27
Xerostomia 42
hypopigmented skin patch 59
mandibular excess (physical finding) 78
ovarian neoplasm 99
pulmonary arterial hypertension 75
Disease Target Count Z-score Confidence
Glaucoma 239 3.511 1.8
Heart conduction disease 83 0.0 3.0
Disease Target Count Z-score Confidence
Primary pulmonary hypertension 14 0.0 5.0

Expression

  Differential Expression (35)

Disease log2 FC p
adult high grade glioma 1.700 1.1e-02
Amyotrophic lateral sclerosis -1.061 1.4e-04
Astrocytoma, Pilocytic 1.900 4.3e-06
autosomal dominant Emery-Dreifuss muscul... 1.257 1.5e-02
Breast cancer -2.300 1.4e-17
breast carcinoma -2.400 6.4e-05
colon cancer -1.400 3.1e-02
dermatomyositis 1.300 2.4e-02
Down syndrome 2.000 3.6e-03
Duchenne muscular dystrophy 1.396 7.1e-06
ductal carcinoma in situ -2.700 5.9e-05
ependymoma 1.200 1.5e-02
fibroadenoma -1.800 2.6e-02
glioblastoma 1.600 6.5e-04
group 3 medulloblastoma 1.600 8.1e-03
intraductal papillary-mucinous adenoma (... -3.200 2.7e-05
intraductal papillary-mucinous carcinoma... -3.100 5.1e-05
intraductal papillary-mucinous neoplasm ... -2.500 2.0e-02
invasive ductal carcinoma -3.800 2.9e-05
juvenile dermatomyositis 1.061 4.7e-07
lung adenocarcinoma -2.500 1.5e-16
lung cancer -4.400 1.3e-06
lung carcinoma -2.800 4.9e-25
medulloblastoma, large-cell -1.400 2.9e-03
nasopharyngeal carcinoma 1.300 6.4e-04
non-small cell lung cancer -2.818 5.8e-28
ovarian cancer -4.200 1.1e-14
pancreatic cancer 1.700 1.6e-02
pancreatic carcinoma 1.700 1.6e-02
primary pancreatic ductal adenocarcinoma 1.607 1.1e-04
psoriasis 1.200 1.9e-03
tuberculosis and treatment for 3 months -1.200 5.1e-05
ulcerative colitis 2.300 2.7e-05
urothelial carcinoma 1.800 3.6e-02
X-linked cerebral adrenoleukodystrophy -1.200 4.2e-02

Gene RIF (700)

AA Sequence

MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFED      1 - 70
VIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIE     71 - 140
IQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI                                    141 - 178
//

Text Mined References (815)

PMID Year Title