Property Summary

NCBI Gene PubMed Count 64
PubMed Score 99.08
PubTator Score 72.75

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Anemia 365
Pulmonary Fibrosis 106
Abnormal blistering of the skin 54
Abnormality of female internal genitalia 13
Abnormality of metabolism/homeostasis 134
Abnormality of the fingernails 51
Abnormality of the pharynx 19
Alopecia 115
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Atrophic condition of skin 25
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Cellular immunodeficiency 17
Cerebellar Ataxia 304
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Cerebral calcification 43
Coagulation abnormalities 27
Cognitive delay 608
Congenital deafness 185
Congenital keratoglobus 14
Corneal diameter increased 13
Cryptorchidism 296
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 1
Deafness 198
Decreased platelet count 111
Delayed speech and language development 112
Dental caries 164
Dilated ventricles (finding) 121
Dry skin 75
Dull intelligence 645
Dystrophia unguium 53
Early tooth exfoliation 17
Esophageal Stenosis 15
Excessive tearing 12
Excessive wrinkled skin 16
Exudative retinopathy 4
Failure to gain weight 365
Fetal Growth Retardation 189
Fine hair 42
Fine, reticulate skin pigmentation 1
Frequent fractures 53
Generalized hyperpigmentation 22
Generalized hypopigmentation of hair 5
Gingival Diseases 19
Global developmental delay 608
Hearing Loss, Partial 185
Hemoglobin low 124
Hemorrhagic Disorders 30
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperhidrosis disorder 81
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
Isolated cases 72
Language Delay 112
Large elongated pulp chamber 14
Leukocoria 10
Leukokeratosis 19
Leukopenia 72
Leukoplakia, Oral 20
Liver Cirrhosis 181
Low intelligence 645
Lymphopenia 67
MYELODYSPLASTIC SYNDROME 53
Malabsorption 82
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle Hypertonia 88
Nail dysplasia 52
Neutrophil abnormality 20
Nystagmus 317
Osteoporosis 363
Pediatric failure to thrive 365
Periodontal Diseases 21
Phenotypic variability 150
Pitting of nails 6
Pneumonia, Interstitial 5
Poor school performance 645
Premature canities 24
Premature tooth loss 17
Progressive neurologic deterioration 19
REVESZ SYNDROME (disorder) 1
Recurrent respiratory infections 141
Reticular pigmentation pattern 7
Reticulate hyperpigmentation 5
Reticulate skin pigmentation 7
Retinal Diseases 55
Ridged fingernails 4
Ridged nails 14
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
Specific learning disability 47
Speech Delay 112
Speech impairment 112
Squamous cell carcinoma of skin 11
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
Xerosis 75
hearing impairment 199
hypopigmented skin patch 59
periodontitis 293
Disease Target Count P-value
tuberculosis and treatment for 6 months 409 5.8e-05
ovarian cancer 8520 5.4e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Coats disease 13 3.539 1.8

Expression

  Differential Expression (2)

Disease log2 FC p
ovarian cancer 1.400 5.4e-04
tuberculosis and treatment for 6 months -1.100 5.8e-05

 GO Function (1)

Protein-protein Interaction (6)

Gene RIF (34)

AA Sequence

MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELI      1 - 70
LQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYG     71 - 140
EPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVN    141 - 210
LAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHK    211 - 280
ERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPAT    281 - 350
EQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT    351 - 420
LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL                                           421 - 451
//

Text Mined References (70)

PMID Year Title