Property Summary

NCBI Gene PubMed Count 712
PubMed Score 1514.73
PubTator Score 1611.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormal eyelashes 13
Abnormality of corneal stroma 1
Absence of eyebrows 31
Absent eyelashes 16
Alopecia 115
Amniotic Bands 4
Aplasia of eyelashes 16
Aplasia/Hypoplasia of the eyebrow 31
Autoamputation of digits 1
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Bulbous internal auditory canal 5
Conductive hearing loss 123
Congenital deafness 185
Congenital pes cavus 88
Corneal Neovascularization 13
Corneal Scar 7
Corneal Ulcer 21
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 3
Dry Eye Syndromes 8
Dystrophia unguium 53
Dystrophic fingernails 18
Dystrophic toenail changes 12
Epithelial corneal erosions 12
Erythema 58
Exfoliative dermatitis 24
Failure of development of eyelashes 16
Fine hair 42
Fissured tongue 25
Flexion contracture - elbow 32
Flushing 60
Hearing Loss, Partial 185
Hearing loss, progressive sensorineural 23
Honeycomb palmoplantar keratoderma 3
Hyperkeratosis 50
Hyperkeratosis, generalized 14
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypohidrosis 34
Hypoplastic fingernails 11
Hypoplastic toenails 22
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 1
Ichthyoses 41
Impaired cognition 96
Infantile onset 238
Keratitis sicca 6
Keratitis-Ichthyosis-Deafness Syndrome 2
Keratoconjunctivitis sicca 25
Leukokeratosis 19
Leukonychia 6
Leukoplakia, Oral 20
Low Vision 174
Lytic lesion 32
Macule 19
Malignant Squamous Cell Neoplasm 17
Mental impairment 95
Multiple, subcutaneous nodules 53
Mutilating keratoderma 1
Nail dysplasia 52
Photodysphoria 121
Photophobia 121
Porokeratotic eccrine ostial and dermal duct nevus 1
Pseudoainhum 4
Punctate epithelial keratitis 2
Recurrent bacterial skin infections 8
Recurrent erosion of cornea 12
Scarring alopecia of scalp 13
Sensorineural Hearing Loss (disorder) 284
Senter syndrome 2
Skin Ulcer 48
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Squamous cell carcinoma 129
Stapes ankylosis 4
Subcutaneous nodule 53
Thin, sparse hair 59
Trichiasis 1
Visual Impairment 174
X- linked recessive 110
Xerophthalmia 16
hearing impairment 199
Disease Target Count Z-score Confidence
ulcerative colitis 1819 0.0 1.2
Disease Target Count Z-score Confidence
Bart-Pumphrey syndrome 4 4.766 2.4
Disease Target Count Z-score Confidence
Nonsyndromic deafness 142 8.14 4.0

Expression

  Differential Expression (23)

Disease log2 FC p
psoriasis 2.900 5.9e-63
adult high grade glioma 1.400 3.3e-03
Atopic dermatitis 1.800 6.0e-04
Breast cancer 2.300 4.3e-02
breast carcinoma 1.200 1.6e-04
cystic fibrosis 2.600 4.9e-06
ductal carcinoma in situ 3.400 2.8e-03
ependymoma -1.400 2.7e-02
facioscapulohumeral dystrophy 2.100 2.3e-02
group 3 medulloblastoma -1.300 8.4e-04
head and neck cancer 1.400 4.2e-02
intraductal papillary-mucinous carcinoma... 2.000 2.0e-02
intraductal papillary-mucinous neoplasm ... 4.200 2.6e-04
invasive ductal carcinoma 2.684 2.8e-04
lung adenocarcinoma 1.200 1.3e-09
medulloblastoma, large-cell -1.200 8.6e-03
non-small cell lung cancer 4.784 2.1e-21
ovarian cancer -1.600 2.2e-02
pancreatic cancer 3.200 5.9e-07
primary pancreatic ductal adenocarcinoma 2.852 2.5e-03
primitive neuroectodermal tumor -1.300 1.3e-02
spina bifida -1.535 1.7e-02
tuberculosis -4.600 2.8e-09

Gene RIF (763)

AA Sequence

MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFP      1 - 70
ISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSI     71 - 140
FFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTEL    141 - 210
CYLLIRYCSGKSKKPV                                                          211 - 226
//

Text Mined References (716)

PMID Year Title