Property Summary

NCBI Gene PubMed Count 84
PubMed Score 200.82
PubTator Score 107.26

Knowledge Summary

Patent (22,179)

TINX Plot

  Disease (7)

Disease Target Count
Abnormally small eyeball 94
Absent earlobe 9
Agenesis of teeth 21
Atrophy of cerebellum 101
Autosomal recessive predisposition 1407
Bilateral fifth finger clinodactyly 109
Cachexia 50
Cataract 290
Cerebellar degeneration 101
Cerebral atrophy 175
Cognitive delay 596
Cone-shaped epiphyses 24
Convex nasal ridge 36
Corneal diameter decreased 46
Cortical gyral simplification 19
Craniosynostosis 73
Curvature of little finger 109
Decreased size of eyeball 94
Defective tooth enamel 29
Degenerative brain disorder 98
Delayed bone age 132
Downward slant of palpebral fissure 158
Dull intelligence 634
Dystrophic tooth enamel 29
Enamel abnormalities 29
Fetal Growth Retardation 186
Glaucoma 232
Global developmental delay 596
Hip Dislocation, Congenital 46
Hypoplastic mandible condyle 273
Impaired cognition 95
Infant, Small for Gestational Age 174
Infratentorial atrophy 101
Intellectual disability 998
Intrauterine retardation 174
Joint hyperflexibility 76
Lens Opacities 227
Low Vision 167
Low intelligence 634
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental impairment 95
Microcornea 46
Micrognathism 273
Microphthalmos 95
Mild global developmental delay 14
Narrow face 54
Poor school performance 634
Precociously senile appearance 18
Prenatal onset 137
Psychomotor retardation, mild 14
Reduced number of teeth 21
Sandal gap 24
Short stature 514
Skull malformation 37
Sloping forehead 46
Small head 366
Sparse scalp hair 41
Supratentorial atrophy 93
Thin face 54
Visual Impairment 167
Disease Target Count
Renal Cell Carcinoma 211
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.8
Disease Target Count Z-score Confidence
Cancer 2388 3.509 1.8
Carotid Artery Thrombosis 5 3.258 1.6

Expression

  Differential Expression (18)

Disease log2 FC p
adrenocortical carcinoma 1.341 1.1e-04
adult high grade glioma 1.400 2.5e-04
atypical teratoid / rhabdoid tumor 1.700 3.1e-07
Breast cancer 2.100 3.7e-02
colon cancer 1.100 2.3e-02
ductal carcinoma in situ 1.200 5.5e-03
ependymoma 1.100 6.1e-07
glioblastoma 1.100 1.2e-06
group 3 medulloblastoma 1.900 1.7e-05
intraductal papillary-mucinous neoplasm ... 1.200 1.8e-03
invasive ductal carcinoma 1.400 5.7e-03
lung cancer 2.700 9.8e-04
malignant mesothelioma 1.400 1.8e-05
medulloblastoma, large-cell 2.100 5.2e-05
non-small cell lung cancer 1.525 9.1e-24
osteosarcoma -2.443 9.4e-04
ovarian cancer 1.100 5.3e-04
primitive neuroectodermal tumor 2.000 5.8e-05

 GWAS Trait (1)

Gene RIF (58)

AA Sequence

MATCIGEKIEDFKVGNLLGKGSFAGVYRAESIHTGLEVAIKMIDKKAMYKAGMVQRVQNEVKIHCQLKHP      1 - 70
SILELYNYFEDSNYVYLVLEMCHNGEMNRYLKNRVKPFSENEARHFMHQIITGMLYLHSHGILHRDLTLS     71 - 140
NLLLTRNMNIKIADFGLATQLKMPHEKHYTLCGTPNYISPEIATRSAHGLESDVWSLGCMFYTLLIGRPP    141 - 210
FDTDTVKNTLNKVVLADYEMPSFLSIEAKDLIHQLLRRNPADRLSLSSVLDHPFMSRNSSTKSKDLGTVE    211 - 280
DSIDSGHATISTAITASSSTSISGSLFDKRRLLIGQPLPNKMTVFPKNKSSTDFSSSGDGNSFYTQWGNQ    281 - 350
ETSNSGRGRVIQDAEERPHSRYLRRAYSSDRSGTSNSQSQAKTYTMERCHSAEMLSVSKRSGGGENEERY    351 - 420
SPTDNNANIFNFFKEKTSSSSGSFERPDNNQALSNHLCPGKTPFPFADPTPQTETVQQWFGNLQINAHLR    421 - 490
KTTEYDSISPNRDFQGHPDLQKDTSKNAWTDTKVKKNSDASDNAHSVKQQNTMKYMTALHSKPEIIQQEC    491 - 560
VFGSDPLSEQSKTRGMEPPWGYQNRTLRSITSPLVAHRLKPIRQKTKKAVVSILDSEEVCVELVKEYASQ    561 - 630
EYVKEVLQISSDGNTITIYYPNGGRGFPLADRPPSPTDNISRYSFDNLPEKYWRKYQYASRFVQLVRSKS    631 - 700
PKITYFTRYAKCILMENSPGADFEVWFYDGVKIHKTEDFIQVIEKTGKSYTLKSESEVNSLKEEIKMYMD    701 - 770
HANEGHRICLALESIISEEERKTRSAPFFPIIIGRKPGSTSSPKALSPPPSVDSNYPTRERASFNRMVMH    771 - 840
SAASPTQAPILNPSMVTNEGLGLTTTASGTDISSNSLKDCLPKSAQLLKSVFVKNVGWATQLTSGAVWVQ    841 - 910
FNDGSQLVVQAGVSSISYTSPNGQTTRYGENEKLPDYIKQKLQCLSSILLMFSNPTPNFH              911 - 970
//

Text Mined References (93)

PMID Year Title