Property Summary

Ligand Count 72
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 97
Absent earlobe 9
Agenesis of teeth 21
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Cachexia 50
Cataract 297
Cerebellar degeneration 103
Cerebral atrophy 178
Cognitive delay 608
Cone-shaped epiphyses 24
Convex nasal ridge 37
Corneal diameter decreased 47
Cortical gyral simplification 19
Craniosynostosis 74
Curvature of little finger 110
Decreased size of eyeball 97
Defective tooth enamel 31
Degenerative brain disorder 100
Delayed bone age 136
Downward slant of palpebral fissure 158
Dull intelligence 645
Dystrophic tooth enamel 31
Enamel abnormalities 31
Fetal Growth Retardation 189
Glaucoma 239
Global developmental delay 608
Hip Dislocation, Congenital 48
Hypoplastic mandible condyle 275
Impaired cognition 96
Infant, Small for Gestational Age 176
Infratentorial atrophy 103
Intellectual disability 1016
Intrauterine retardation 176
Joint hyperflexibility 78
Lens Opacities 231
Low Vision 174
Low intelligence 645
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Microcornea 47
Micrognathism 275
Microphthalmos 100
Mild global developmental delay 14
Narrow face 54
Poor school performance 645
Precociously senile appearance 18
Prenatal onset 139
Psychomotor retardation, mild 14
Reduced number of teeth 21
Sandal gap 24
Short stature 531
Skull malformation 38
Sloping forehead 46
Small head 374
Sparse scalp hair 42
Supratentorial atrophy 94
Thin face 54
Visual Impairment 174
Disease Target Count
Renal Cell Carcinoma 214
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Cancer 2499 3.509 1.8
Carotid Artery Thrombosis 6 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)

PDB (10)

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