Property Summary

NCBI Gene PubMed Count 31
PubMed Score 90.78
PubTator Score 67.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Lipodystrophy, Congenital Generalized 2 0.0 0.0
Disease Target Count
Lipodystrophy 37
Acanthosis Nigricans 26
diabetes mellitus 1683
Abnormal pigmentation 24
Acromegaly 48
Acute pancreatitis 10
Advanced bone age 34
Autosomal recessive predisposition 1407
Bone Cysts 11
Broad feet 18
Class III malocclusion 75
Congenital Generalized Lipodystrophy Type 1 1
Cystic angiomatosis of bone 2
Decreased fertility in females 18
Decreased serum leptin 6
Dull intelligence 634
Familial generalized lipodystrophy 5
Generalized hirsutism 33
Generalized muscular appearance from birth 2
Growth hormone excess 13
Hepatomegaly 280
Hirsutism 46
Hyperhidrosis disorder 78
Hyperinsulinism 128
Hyperphagia 22
Hyperplasia of supraorbital margins 18
Hyperplasia of supraorbital ridge 18
Hypertriglyceridemia result 35
Hypertrophic Cardiomyopathy 115
Hypertrophy of clitoris 38
Hypertrophy of labia 2
Hypertrophy of lower jaw 75
Hypertrophy of supraorbital margins 18
Hypertrophy of supraorbital ridge 18
Increased appetite (finding) 22
Increased size of mandible 75
Increased sweating 78
Insulin Resistance 70
Insulin-resistant diabetes mellitus at puberty 3
Intellectual disability 998
Large hand 17
Lipoatrophic Diabetes Mellitus 4
Lipoatrophy 17
Liver Cirrhosis 173
Liver Failure 72
Long foot 8
Low intelligence 634
Mandibular hyperplasia 75
Mental Retardation 634
Mental deficiency 634
Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) 2
Polycystic ovary syndrome 348
Poor school performance 634
Precocious Puberty 27
Prominent supraorbital ridges 18
Prominent umbilicus 3
Sclerocystic Ovaries 14
Skeletal muscle hypertrophy 15
Splenomegaly 186
Steatohepatitis 44
Sweating 78
Tall stature 33
Umbilical hernia 88
mandibular excess (physical finding) 75
Disease Target Count Z-score Confidence
Paraplegia 72 3.304 1.7

Expression

  Differential Expression (9)

Disease log2 FC p
adult high grade glioma -1.400 5.0e-04
ductal carcinoma in situ -2.200 4.4e-04
group 4 medulloblastoma -1.100 4.4e-03
invasive ductal carcinoma -1.900 1.0e-02
medulloblastoma, large-cell -1.400 4.8e-04
non primary Sjogren syndrome sicca 1.100 1.6e-02
pancreatic ductal adenocarcinoma liver m... -1.083 4.2e-02
psoriasis 2.200 2.3e-05
ulcerative colitis -1.100 3.9e-05

Protein-protein Interaction (1)

Gene RIF (19)

AA Sequence

MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENMSIIGWFVRSF      1 - 70
KYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFF     71 - 140
INRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGDLLPFKKGAFYLAVQAQVPIVPVVYSSFSSF    141 - 210
YNTKKKFFTSGTVTVQVLEAIPTSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ      211 - 278
//

Text Mined References (32)

PMID Year Title