Property Summary

NCBI Gene PubMed Count 56
PubMed Score 233.05
PubTator Score 155.90

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Dyskeratosis congenita 24
Pulmonary Fibrosis 106
Abnormal blistering of the skin 54
Abnormality of female internal genitalia 13
Abnormality of the fingernails 51
Abnormality of the pharynx 19
Adult onset 82
Anemia 365
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Cellular immunodeficiency 17
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Coagulation abnormalities 27
Cognitive delay 608
Decreased antibody level in blood 35
Decreased platelet count 111
Dental caries 164
Dilated ventricles (finding) 121
Dull intelligence 645
Dystrophia unguium 53
Esophageal Stenosis 15
Excessive wrinkled skin 16
Failure to gain weight 365
Fetal Growth Retardation 189
Frequent fractures 53
Generalized hyperpigmentation 22
Generalized hypopigmentation of hair 5
Gingival Diseases 19
Global developmental delay 608
HOYERAAL-HREIDARSSON SYNDROME 6
Hemoglobin low 124
Hemorrhagic Disorders 30
Highly variable severity 157
Hyperhidrosis disorder 81
Hyperpigmented macules 42
Hypodontia 81
Hypogammaglobulinemia 35
Hypoplastic-absent toenails 11
Immunologic Deficiency Syndromes 113
Increased fracture rate 53
Increased sweating 81
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Large elongated pulp chamber 14
Leukokeratosis 19
Leukopenia 72
Leukoplakia, Oral 20
Low intelligence 645
Malabsorption 82
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle Hypertonia 88
Neutrophil abnormality 20
Pediatric failure to thrive 365
Periodontal Diseases 21
Poor school performance 645
Postnatal growth retardation 57
Premature canities 24
Recurrent respiratory infections 141
Rotting teeth 73
Rough bone trabeculation 11
Short stature 531
Skin Ulcer 48
Skin bulla 54
Small head 374
Sparse hair 59
Sparse scalp hair 42
Sweating 81
Taurodontism 14
Telangiectasia of the skin 39
Thin, sparse hair 59
Thrombocytopenia 197
Tracheoesophageal Fistula 36
Urethral Stricture 18
Variable expressivity 157
Varying degree of multiple fractures 53
hypopigmented skin patch 59
periodontitis 293
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7

Expression

Gene RIF (40)

AA Sequence

MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISAR      1 - 70
KIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGS     71 - 140
REQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEEKSLEQELASPILDIEDLVKSGSKHRVCPYY    141 - 210
LSRNLKQQADIIFMPYNYLLDAKSRRAHNIDLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVID    211 - 280
QVLEEQTKAAQQGEPHPEFSADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFE    281 - 350
LFAEAQITFQTKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQS    351 - 420
YKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSGTLAPVSSFAL    421 - 490
EMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSSLGKALGNIARVVPYGLLIFF    491 - 560
PSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSETISAYYARVAAPGSTGATFLAVCRGKASEG    561 - 630
LDFSDTNGRGVIVTGLPYPPRMDPRVVLKMQFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIR    631 - 700
HRQDYGAVFLCDHRFAFADARAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRG    701 - 770
EDAVSEAKSPGPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEH    771 - 840
SEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFMVAVKQELSQA    841 - 910
NFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHHKQQFEEVCIQLTGRGCGYRP    911 - 980
EHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQEHLNQGRPHLSPRPPPTGDPGSQPQWGSGVP    981 - 1050
RAGKQGQHAVSAYLADARRALGSAGCSQLLAALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFV   1051 - 1120
RPHHKQRFSQTCTDLTGRPYPGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPA   1121 - 1190
GTVGAGGEDAGPSQSSGPPHGPAASEWGL                                            1191 - 1219
//

Text Mined References (57)

PMID Year Title