Property Summary

NCBI Gene PubMed Count 125
PubMed Score 721.63
PubTator Score 613.57

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hypohidrosis 34
Alopecia 115
Abnormal blistering of the skin 54
Abnormal respiratory patterns 20
Abnormality of the conjunctiva 2
Absent scalp hair 5
Anemia 365
Atrophic condition of skin 25
Atrophic scar 18
Autosomal recessive predisposition 1442
Blepharoptosis 231
Blister of skin 54
Defective enamel matrix 35
Defective tooth enamel 31
Dental Enamel Hypoplasia 43
Dental caries 164
Dysplasia of tooth enamel 35
Dystrophia unguium 53
Dystrophic fingernails 18
Dystrophic toenail changes 12
Dystrophic tooth enamel 31
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 1
Early tooth exfoliation 17
Ecchymosis 66
Ectodermal Dysplasia 14
Enamel abnormalities 31
Epidermolysis Bullosa Herpetiformis Dowling-Meara 2
Epidermolysis Bullosa Simplex Kobner 2
Fingerprints, Absence of 4
Fragile nails 16
Growth delay 114
Growth failure 114
Growth retardation 115
Haemorrhage subcutaneous 10
Hemoglobin low 124
Highly variable severity 157
Hyperhidrosis disorder 81
Hyperkeratosis, generalized 14
Hypohidrosis or hyperhidrosis 1
Increased sweating 81
Increased tendency to bruise 66
Intolerant of heat 7
Keratoderma, Palmoplantar, Diffuse 4
Leukokeratosis 19
Leukoplakia, Oral 20
Loss of scalp hair 5
Mammary Neoplasms 425
Milium Cyst 16
Nail Diseases 24
Nail abnormality 22
Nail dysplasia 52
Neonatal onset 21
Neoplastic Cell Transformation 89
Onychogryposis 13
Ophthalmoparesis 11
Palmoplantar blistering 3
Palmoplantar keratosis 74
Poor growth 114
Precociously senile appearance 18
Premature tooth loss 17
Prenatal onset 139
Recurrent skin infections 21
Reticular pigmentation pattern 7
Reticulate hyperpigmentation 5
Reticulate pigmentation (oral mucosa) 1
Reticulate skin pigmentation 7
Ridged nails 14
Rotting teeth 73
Skin Vesicle 5
Skin bulla 54
Squamous cell carcinoma 129
Squamous cell carcinoma of esophagus 77
Sweating 81
Thin dental enamel 35
Variable expressivity 157
Very poor growth 114
Weber-Cockayne Syndrome 2
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Epidermolysis bullosa 21 6.446 3.2

Expression

  Differential Expression (9)

Disease log2 FC p
Breast cancer -6.300 2.0e-18
breast carcinoma -3.800 3.3e-31
chronic rhinosinusitis 3.596 7.9e-04
cystic fibrosis -5.961 3.4e-09
esophageal adenocarcinoma -3.700 2.9e-02
nasopharyngeal carcinoma -3.100 1.2e-04
non-small cell lung cancer 4.300 2.8e-10
ovarian cancer 1.800 6.0e-03
spina bifida -2.304 3.7e-02

Gene RIF (69)

AA Sequence

MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYG      1 - 70
GGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEAN     71 - 140
ADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNL    141 - 210
RMSVEADINGLRRVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDL    211 - 280
SRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLS    281 - 350
MKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE    351 - 420
GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN                      421 - 472
//

Text Mined References (129)

PMID Year Title