Property Summary

NCBI Gene PubMed Count 114
PubMed Score 878.14
PubTator Score 347.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Animal Mammary Neoplasms 136
Autosomal recessive predisposition 1442
Calcification of cartilage 2
Cartilaginous ossification of larynx 1
Cartilaginous ossification of nose 1
Cerebral calcification 43
Chronic sinus disease 9
Chronic sinusitis 9
Cognitive delay 608
Concave bridge of nose 195
Congenital atresia of trachea 1
Congenital deafness 185
Congenital hypoplasia of pulmonary artery 1
Costal cartilage calcification 2
Deafness 198
Decreased projection of midface 105
Deep philtrum 21
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Epilepsy 792
Global developmental delay 608
Hearing Loss, Partial 185
Hypernasal voice 39
Hypoplasia of thumb 26
Hypotrophic malar bone 129
Hypotrophic midface 105
Idiopathic pulmonary arterial hypertension 40
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long face 71
Macrotia 87
Malar flattening 129
Mental and motor retardation 608
Midface retrusion 105
Mild Mental Retardation 70
Nasal voice 39
Ossification of pinnae 2
Peripheral pulmonary artery stenosis 14
Premature fusion of phalangeal epiphyses 1
Pulmonary Stenosis 45
Pulmonary artery stenosis 22
Pulmonary hypertension 85
Recurrent bronchitis 23
Recurrent otitis media 42
Recurrent sinus disease 22
Recurrent sinusitis 22
Seizures 596
Short distal phalanges 50
Short hallux 16
Sloping forehead 46
Small midface 105
Spontaneous abortion 113
Stippled epiphyses 28
Thin hypoplastic alae nasi 51
Varicosity 12
Ventricular Septal Defects 119
Wide nose 35
abnormal growth 26
hearing impairment 199
pulmonary arterial hypertension 75

Expression

Gene RIF (97)

AA Sequence

MKSLILLAILAALAVVTLCYESHESMESYELNPFINRRNANTFISPQQRWRAKVQERIRERSKPVHELNR      1 - 70
EACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK                                          71 - 103
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Text Mined References (116)

PMID Year Title