Property Summary

Ligand Count 1
NCBI Gene PubMed Count 54
PubMed Score 128.22
PubTator Score 152.07

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Abnormal amniotic fluid 6
Abnormal subcutaneous fat tissue distribution 3
Antithrombin III deficiency 14
Autosomal recessive predisposition 1442
Bulging forehead 66
Cardiomyopathies 110
Cerebellar Ataxia 304
Cognitive delay 608
Concave bridge of nose 195
Contracture 96
Contracture of joint 93
Cystic kidney 30
Decreased tendon reflex 122
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diarrhea 253
Elevated hepatic transaminases 81
Epilepsy 792
Esotropia 31
Factor XI Deficiency 12
Failure to gain weight 365
Feeding difficulties in infancy 175
Fibrosis, Liver 32
Flexion contracture 93
Flexion contractures of joints 93
Generalized osteopenia 99
Global developmental delay 608
Hepatic enzyme increased 81
Hepatomegaly 285
Hydrops Fetalis, Non-Immune 8
Hyperkyphosis 111
Hypoalbuminemia 24
Hypocholesterolemia 6
Hypothyroidism 122
IgG Deficiency 22
Immunoglobulin A deficiency (disorder) 19
Increased number of platelets 14
Inversion of nipple (disorder) 7
Isoelectric focusing of serum transferrin consistent with CDG type I 10
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Macrotia 87
Mental and motor retardation 608
Muscle Weakness 170
Muscle hypotonia 571
Nephrotic Syndrome 78
Nystagmus 317
Olivopontocerebellar hypoplasia 1
Osteopenia 99
Ovarian Failure, Premature 9
Partial thromboplastin time increased (finding) 11
Pediatric failure to thrive 365
Pericardial effusion 14
Peripheral Neuropathy 134
Polyneuropathy 64
Primary hypogonadism 37
Prominent forehead 66
Proteinuria 144
Prothrombin time increased 7
Proximal tubulopathy 9
Renal cyst 30
Retinitis Pigmentosa 226
Seizures 596
Small head 374
Steatohepatitis 44
Stroke-like episodes 10
Subclinical abnormal liver function tests 81
Thin upper lip vermilion 67
Thrombocytosis 38
Transaminases increased 81
Vomiting 116

Expression

Gene RIF (27)

AA Sequence

MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPE      1 - 70
NGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEE     71 - 140
RIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDK    141 - 210
TMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS                                      211 - 246
//

Text Mined References (60)

PMID Year Title