Property Summary

NCBI Gene PubMed Count 148
PubMed Score 908.89
PubTator Score 273.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Keratitis 62
Alopecia 115
Abnormal eyelashes 13
Abnormality of nail color 5
Absence of eyebrows 31
Absent axillary hair 5
Absent pubic hair 2
Adult onset sensorineural hearing impairment 1
Alopecia totalis 3
Aplasia/Hypoplasia of the eyebrow 31
Autosomal recessive predisposition 1442
Blepharitis 23
Brittle hair 25
Bulbous internal auditory canal 5
Cataract 297
Cellulitis of eyelid 17
Conductive hearing loss 123
Congenital deafness 185
Conjunctivitis 53
Conjunctivitis, recurrent 37
Corneal Neovascularization 13
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 3
Deafness 198
Dental abnormalities 60
Dystrophia unguium 53
Dystrophic fingernails 18
Dystrophic toenail changes 12
Erythema 58
Fine hair 42
Fissured tongue 25
Flushing 60
Fractured hair 25
Fragile hair 25
Fragile nails 16
Generalized hyperpigmentation 22
Hearing Loss, Partial 185
Hearing loss, progressive sensorineural 23
Hidrotic Ectodermal Dysplasia 2
Highly variable severity 157
Hyperkeratosis, generalized 14
Hyperpigmentation 37
Hypohidrosis 34
Hypoplastic fingernails 11
Hypoplastic toenails 22
Hypotrichosis 47
Ichthyoses 41
Irregular hyperpigmentation 33
Keratitis-Ichthyosis-Deafness Syndrome 2
Lens Opacities 231
Leukokeratosis 19
Leukoplakia, Oral 20
Low Vision 174
Lytic lesion 32
Macule 19
Micronychia (disorder) 24
Nail dysplasia 52
Onychogryposis 13
Onycholysis 6
Overcurvature of nail 6
Palmoplantar keratosis 74
Photodysphoria 121
Photophobia 121
Recurrent bacterial skin infections 8
Reduced tensile strength of hair 25
Sensorineural Hearing Loss (disorder) 284
Senter syndrome 2
Short stature 531
Skin Ulcer 48
Slow-growing hair 19
Sparse axillary hair 28
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Sparse or absent eyebrows 31
Sparse pubic hair 31
Sparse scalp hair 42
Sparse/absent eyebrows 31
Stapes ankylosis 4
Strabismus 270
Thin, sparse hair 59
Tooth Abnormalities 69
Variable expressivity 157
Visual Impairment 174
X- linked recessive 110
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Nonsyndromic deafness 142 6.547 3.3

Expression

  Differential Expression (18)

Disease log2 FC p
adult high grade glioma -5.700 2.5e-09
astrocytoma -3.000 3.7e-13
Astrocytoma, Pilocytic -6.300 2.1e-16
Atopic dermatitis 1.100 2.0e-04
atypical teratoid / rhabdoid tumor -5.700 6.4e-10
cystic fibrosis 3.200 1.4e-06
ependymoma -4.400 2.8e-03
glioblastoma -5.300 3.0e-11
group 3 medulloblastoma -7.000 3.4e-09
interstitial cystitis -2.800 4.5e-03
medulloblastoma, large-cell -6.200 6.1e-07
non-small cell lung cancer 4.622 1.8e-13
oligodendroglioma -3.100 1.2e-02
osteosarcoma -2.845 4.3e-07
primitive neuroectodermal tumor -4.800 4.0e-04
psoriasis 1.800 8.6e-50
spina bifida -1.291 3.1e-02
subependymal giant cell astrocytoma -4.986 6.6e-04

Gene RIF (148)

AA Sequence

MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFP      1 - 70
VSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSI     71 - 140
FFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAEL    141 - 210
CYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS                       211 - 261
//

Text Mined References (149)

PMID Year Title