Property Summary

NCBI Gene PubMed Count 40
PubMed Score 845.64
PubTator Score 3906.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Melanoma 711 0.0 0.0
Sialic Acid Storage Disease 2 0.0 0.0
Disease Target Count
Abnormality of metabolism/homeostasis 134
Abnormality of the thorax 19
Alcoholic Intoxication, Chronic 289
Anteverted nostril 191
Ascites 22
Athetosis 16
Autosomal recessive predisposition 1442
Blepharoptosis 231
Blonde hair 7
Byzanthine arch palate 194
Cardiomegaly 116
Cerebellar Ataxia 304
Cerebral atrophy 178
Coarse facial features 108
Cognitive delay 608
Congenital Epicanthus 177
Congestive heart failure 113
Conjugated hyperbilirubinemia 14
Death in childhood 14
Degenerative brain disorder 100
Delayed speech and language development 112
Dull intelligence 645
Dysarthria 192
Epilepsy 792
Exotropia 35
Failure to gain weight 365
Fair hair 7
Foot Deformities 30
Generalized osteopenia 99
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Heart failure 162
Hepatomegaly 285
Hydrocephalus 152
Hydrops Fetalis 21
Hypopigmentation disorder 25
Increased thickness of cranium 17
Infantile Sialic Acid Storage Disease 1
Infantile free sialic acid storage disease 1
Intellectual disability 1016
J-shaped hypophysial fossa 6
J-shaped sella turcica 6
Language Delay 112
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metaphyseal irregularity 23
Muscle Spasticity 195
Muscle hypotonia 571
Nephrotic Syndrome 78
Nystagmus 317
Omega shaped hypophysial fossa 6
Osteopenia 99
Pediatric failure to thrive 365
Poor growth 114
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Seizures 596
Sialic Acid Storage Disease, Finnish Type (disorder) 1
Sialuria 9
Speech Delay 112
Speech impairment 112
Splenomegaly 190
Supratentorial atrophy 94
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Vacuolated lymphocytes 8
Very poor growth 114
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (8)

Gene RIF (19)

AA Sequence

MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDS      1 - 70
NTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLG     71 - 140
FGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGT    141 - 210
VISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSV    211 - 280
PWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAAD    281 - 350
NLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS    351 - 420
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDH    421 - 490
HGHRH                                                                     491 - 495
//

Text Mined References (40)

PMID Year Title