Property Summary

NCBI Gene PubMed Count 28
PubMed Score 28.75
PubTator Score 19.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal blistering of the skin 54
Abnormality of female internal genitalia 13
Abnormality of the fingernails 51
Abnormality of the pharynx 19
Anemia 365
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Aplastic Anemia 21
Atrophy of testis 14
Autosomal recessive predisposition 1442
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Cellular immunodeficiency 17
Coagulation abnormalities 27
Cognitive delay 608
Decreased platelet count 111
Decreased size of teeth 62
Decreased width of tooth 59
Dental caries 164
Dull intelligence 645
Dystrophia unguium 53
Esophageal Stenosis 15
Excessive tearing 12
Fetal Growth Retardation 189
Fibrosis, Liver 32
Frequent fractures 53
Gingival Diseases 19
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
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
Hyperpigmentation 37
Hyperpigmented macules 42
Hypodontia 81
Hypoplastic-absent toenails 11
Increased fracture rate 53
Increased sweating 81
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Lacrimal Duct Obstruction 16
Large elongated pulp chamber 14
Leukokeratosis 19
Leukoplakia, Oral 20
Liver Cirrhosis 181
Low intelligence 645
Malabsorption 82
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Micronychia (disorder) 24
Nail dysplasia 52
Neutrophil abnormality 20
Obstruction of nasolacrimal duct 9
Osteoporosis 363
Pancytopenia 45
Periodontal Diseases 21
Phenotypic variability 150
Poor growth 114
Poor school performance 645
Pterygium of nail 3
Pulmonary Fibrosis 106
Recurrent respiratory infections 141
Reticular pigmentation pattern 7
Reticulate skin pigmentation 7
Rotting teeth 73
Rough bone trabeculation 11
Short stature 531
Skin Ulcer 48
Skin bulla 54
Small head 374
Sparse eyelashes 31
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
Varying degree of multiple fractures 53
Very poor growth 114
hypopigmented skin patch 59
periodontitis 293
Disease Target Count P-value
psoriasis 6694 4.3e-05
ovarian cancer 8520 4.5e-05
Multiple myeloma 1332 3.1e-04
lung cancer 4740 1.1e-03
non primary Sjogren syndrome sicca 891 4.7e-02
Disease Target Count Z-score Confidence
Idiopathic pulmonary fibrosis 23 3.015 1.5

Expression

  Differential Expression (5)

Disease log2 FC p
lung cancer 2.300 1.1e-03
Multiple myeloma 1.972 3.1e-04
non primary Sjogren syndrome sicca 1.100 4.7e-02
ovarian cancer 2.200 4.5e-05
psoriasis 1.700 4.3e-05

Gene RIF (6)

AA Sequence

MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLTRKLYKCIKKAVKQKQIRRGVKEVQKF      1 - 70
VNKGEKGIMVLAGDTLPIEVYCHLPVMCEDRNLPYVYIPSKTDLGAAAGSKRPTCVIMVKPHEEYQEAYD     71 - 140
ECLEEVQSLPLPL                                                             141 - 153
//

Text Mined References (39)

PMID Year Title