Property Summary

Ligand Count 78
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 40
Acanthosis Nigricans 27
diabetes mellitus 1728
Abnormal pigmentation 25
Acromegaly 51
Acute pancreatitis 10
Advanced bone age 35
Autosomal recessive predisposition 1442
Bone Cysts 12
Broad feet 19
Class III malocclusion 78
Congenital Generalized Lipodystrophy Type 1 1
Cystic angiomatosis of bone 2
Decreased fertility in females 20
Decreased serum leptin 6
Dull intelligence 645
Familial generalized lipodystrophy 5
Generalized hirsutism 36
Generalized muscular appearance from birth 2
Growth hormone excess 14
Hepatomegaly 285
Hirsutism 47
Hyperhidrosis disorder 81
Hyperinsulinism 133
Hyperphagia 23
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertriglyceridemia result 37
Hypertrophic Cardiomyopathy 117
Hypertrophy of clitoris 40
Hypertrophy of labia 2
Hypertrophy of lower jaw 78
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Increased appetite (finding) 23
Increased size of mandible 78
Increased sweating 81
Insulin Resistance 72
Insulin-resistant diabetes mellitus at puberty 3
Intellectual disability 1016
Large hand 18
Lipoatrophic Diabetes Mellitus 5
Lipoatrophy 19
Liver Cirrhosis 181
Liver Failure 73
Long foot 8
Low intelligence 645
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) 2
Polycystic ovary syndrome 360
Poor school performance 645
Precocious Puberty 28
Prominent supraorbital ridges 19
Prominent umbilicus 3
Sclerocystic Ovaries 17
Skeletal muscle hypertrophy 16
Splenomegaly 190
Steatohepatitis 44
Sweating 81
Tall stature 34
Umbilical hernia 93
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Paraplegia 74 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