Property Summary

NCBI Gene PubMed Count 79
PubMed Score 244.35
PubTator Score 166.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Acanthosis Nigricans 27
Abnormal pigmentation 25
Acromegaly 51
Acute pancreatitis 10
Advanced bone age 35
Autosomal recessive predisposition 1442
Babinski Reflex 100
Bone Cysts 12
Broad feet 19
Cerebellar Ataxia 304
Cerebral atrophy 178
Class III malocclusion 78
Cold-induced hand cramps 2
Congenital Generalized Lipodystrophy Type 2 1
Congenital pes cavus 88
Cystic angiomatosis of bone 2
Decreased fertility 33
Decreased fertility in females 20
Decreased lower limb vibratory sense 13
Decreased serum leptin 6
Degenerative brain disorder 100
Delayed Puberty 97
Delayed speech and language development 112
Developmental regression 95
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Dull intelligence 645
Dystonia 164
Dystonic disease 106
Encephalopathies 43
Epilepsy 792
Familial generalized lipodystrophy 5
First dorsal interossei muscle atrophy 2
First dorsal interossei muscle weakness 2
Generalized hirsutism 36
Generalized muscular appearance from birth 2
Growth hormone excess 14
Hepatomegaly 285
Hirsutism 47
Hyperactive behavior 91
Hyperhidrosis disorder 81
Hyperinsulinism 133
Hyperphagia 23
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hyperreflexia 209
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
Language Delay 112
Large hand 18
Lipoatrophic Diabetes Mellitus 5
Lipoatrophy 19
Liver Cirrhosis 181
Liver Failure 73
Long foot 8
Loss of developmental milestones 95
Loss of speech 16
Low intelligence 645
Lower limb spasticity 10
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Mental deterioration 32
Mental deterioration in childhood 95
Mild Mental Retardation 70
Monoparesis - leg 27
Mood Disorders 184
Muscle Spasticity 195
Muscle weakness of upper limb 6
Myoclonus 74
Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) 2
Neurodevelopmental regression 95
Neuronal loss 25
Polycystic ovary syndrome 360
Poor school performance 645
Precocious Puberty 28
Prenatal onset 139
Progressive disorder 142
Prominent supraorbital ridges 19
Prominent umbilicus 3
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Pyramidal sign 29
Quadriparesis 8
Sclerocystic Ovaries 17
Seizures 596
Skeletal muscle hypertrophy 16
Slow progression 89
Spastic Paraplegia 42
Spastic gait 23
Speech Delay 112
Speech impairment 112
Splenomegaly 190
Steatohepatitis 44
Supratentorial atrophy 94
Sweating 81
Tall stature 34
Thenar muscle atrophy 3
Thenar muscle weakness 2
Tremor 113
Umbilical hernia 93
Weakness of lower limb 27
diabetes mellitus 1728
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Charcot-Marie-Tooth disease 62 0.0 5.0
Disease Target Count Z-score Confidence
Paraplegia 74 4.718 2.4
Biliary atresia 12 4.622 2.3
Liver disease 237 3.85 1.9

Expression

 IMPC Phenotype (1)

Pathway (1)

Gene RIF (61)

AA Sequence

MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYY      1 - 70
RTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRII     71 - 140
STSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLY    141 - 210
GAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNS    211 - 280
RKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSG    281 - 350
SWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS                          351 - 398
//

Text Mined References (81)

PMID Year Title