Property Summary

NCBI Gene PubMed Count 106
PubMed Score 245.36
PubTator Score 170.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Dyskeratosis congenita 24 8.397 4.0
Disease Target Count
Anemia 365
Abnormal blistering of the skin 54
Abnormality of female internal genitalia 13
Abnormality of the fingernails 51
Abnormality of the pharynx 19
Alopecia 115
Anal mucosal leukoplakia 2
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Atrophic condition of skin 25
Blepharitis 23
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Cataract 297
Cellular immunodeficiency 17
Cellulitis of eyelid 17
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Coagulation abnormalities 27
Cognitive delay 608
Congenital phimosis 4
Conjunctivitis 53
Conjunctivitis, recurrent 37
Cryptorchidism 296
Decreased platelet count 111
Dental caries 164
Dilated ventricles (finding) 121
Dull intelligence 645
Dystrophia unguium 53
Early tooth exfoliation 17
Esophageal Stenosis 15
Excessive tearing 12
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
Hodgkin Disease 15
Horseshoe Kidney 16
Hyperhidrosis disorder 81
Hyperpigmentation 37
Hyperpigmented macules 42
Hypodontia 81
Hypoplastic myelodysplasia 18
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
Lens Opacities 231
Leukemia, Myelocytic, Acute 120
Leukokeratosis 19
Leukopenia 72
Leukoplakia, Oral 20
Liver Cirrhosis 181
Longitudinal split nail 2
Low intelligence 645
MYELODYSPLASTIC SYNDROME 53
Malabsorption 82
Malignant Squamous Cell Neoplasm 17
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle Hypertonia 88
Neutrophil abnormality 20
Optic Atrophy 242
Osteoporosis 363
Pancytopenia 45
Pediatric failure to thrive 365
Penile hypospadias 106
Periodontal Diseases 21
Poor school performance 645
Premature canities 24
Premature tooth loss 17
Pterygium of nail 3
Pulmonary Fibrosis 106
Recurrent respiratory infections 141
Restrictive lung disease 11
Restrictive ventilatory defect 11
Reticular pigmentation pattern 7
Reticulate skin pigmentation 7
Ridged nails 14
Rotting teeth 73
Rough bone trabeculation 11
Short stature 531
Skin Ulcer 48
Skin bulla 54
Small head 374
Small testicle 75
Sparse eyelashes 31
Sparse hair 59
Sparse scalp hair 42
Squamous cell carcinoma 129
Strabismus 270
Sweating 81
Taurodontism 14
Telangiectasia of the skin 39
Thin, sparse hair 59
Thrombocytopenia 197
Tracheoesophageal Fistula 36
Urethral Stricture 18
Varying degree of multiple fractures 53
X- linked recessive 110
X-Linked Dyskeratosis Congenita 1
hypopigmented skin patch 59
periodontitis 293
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytoma 1.200 5.0e-03
Breast cancer 2.800 2.8e-02
colon cancer 2.500 1.8e-03
dermatomyositis 1.200 5.6e-04
group 3 medulloblastoma 2.000 1.3e-06
lung adenocarcinoma 1.151 5.2e-07
lung cancer 2.600 4.2e-06
malignant mesothelioma 1.100 4.1e-06
medulloblastoma, large-cell 1.900 1.0e-05
Multiple myeloma 1.548 1.7e-03
non-small cell lung cancer 1.352 6.3e-18
ovarian cancer 1.600 1.0e-04
psoriasis 1.400 7.1e-04
Waldenstrons macroglobulinemia 1.639 3.4e-03

Protein-protein Interaction (6)

Gene RIF (54)

AA Sequence

MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYT      1 - 70
PLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERAT     71 - 140
RLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPE    141 - 210
RRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDES    211 - 280
YLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALM    281 - 350
TTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS    351 - 420
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPG    421 - 490
DGDSDTTKKKKKKKKAKEVELVSE                                                  491 - 514
//

Text Mined References (125)

PMID Year Title