Property Summary

NCBI Gene PubMed Count 182
PubMed Score 186.87
PubTator Score 146.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal vision 52
Anemia, Hemolytic 55
Atrophy of cerebellum 103
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 1
Babinski Reflex 100
Blurred vision 19
Brain Aneurysm 8
Cerebellar degeneration 103
Cerebral arterial aneurysm 8
Cognitive delay 608
Creatine phosphokinase serum increased 110
Cystic kidney 30
Diabetic Nephropathy 34
Dull intelligence 645
Dystonia, Limb 9
Electroencephalogram abnormal 101
Elevated creatine kinase 110
Epilepsy 792
Exotropia 35
Focal glomerulosclerosis 37
Global developmental delay 608
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 1
Hematuria 36
Hemiparesis 34
Hemiplegia 25
Highly variable severity 157
Hydrocephalus 152
Hypoplasia or absence of the corpus callosum 23
Infratentorial atrophy 103
Intellectual disability 1016
Ischemic stroke 4
Kidney Diseases 114
Kidney Failure 111
Kidney damage 25
Leukoencephalopathies 29
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Migraine with Aura 6
Muscle Cramp 55
Muscle Spasticity 195
PORENCEPHALY, FAMILIAL 2
Poor school performance 645
Posterior leukoencephalopathy 1
Quadriparesis 8
Renal Insufficiency 90
Renal cyst 30
Renal failure in adulthood 76
Retinal Hemorrhage 6
Retinal arteriolar tortuosity 2
Retinal blind spot 11
Retinal depigmentation 12
Scotoma 22
Seizures 596
Spastic Quadriplegia 42
Strabismus 270
Supraventricular arrhythmia 4
Variable expressivity 157
Visual field defects 19
Walker-Warburg congenital muscular dystrophy 14
Disease Target Count P-value
periodontitis 293 4.6e-29
urothelial carcinoma 318 7.1e-12
juvenile dermatomyositis 1187 9.5e-11
nasopharyngeal carcinoma 1058 2.6e-07
malignant mesothelioma 3232 5.6e-07
cystic fibrosis 1696 8.9e-07
ovarian cancer 8520 2.2e-06
glioblastoma 5792 2.7e-06
ulcerative colitis 1819 7.1e-06
Duchenne muscular dystrophy 601 7.3e-06
interstitial cystitis 2312 6.1e-05
lung cancer 4740 1.1e-04
astrocytoma 1146 1.4e-04
nephrosclerosis 333 1.5e-04
pancreatic cancer 2398 2.3e-04
lung adenocarcinoma 2716 3.4e-04
oligodendroglioma 2850 3.5e-04
medulloblastoma, large-cell 6241 3.5e-04
Astrocytoma, Pilocytic 3081 3.8e-04
cutaneous lupus erythematosus 1057 2.2e-03
pterygium 76 3.0e-03
atypical teratoid / rhabdoid tumor 5112 3.0e-03
group 3 medulloblastoma 4104 3.5e-03
gastric carcinoma 807 4.1e-03
psoriasis 6694 5.3e-03
head and neck cancer and chronic obstructive pulmonary disease 239 7.7e-03
ependymoma 4679 7.9e-03
breast carcinoma 1638 8.6e-03
adult high grade glioma 3801 1.1e-02
limb girdle muscular dystrophy 2B 40 1.1e-02
intraductal papillary-mucinous carcinoma (IPMC) 2989 1.2e-02
Becker muscular dystrophy 191 1.4e-02
primitive neuroectodermal tumor 3035 1.6e-02
pancreatic ductal adenocarcinoma liver metastasis 1962 1.7e-02
dermatomyositis 966 1.8e-02
adrenocortical carcinoma 1428 2.2e-02
Breast cancer 3578 2.5e-02
autosomal dominant Emery-Dreifuss muscular dystrophy 510 2.5e-02
Hydrolethalus syndrome 128 2.9e-02
subependymal giant cell astrocytoma 2287 3.0e-02
intraductal papillary-mucinous adenoma (IPMA) 2955 3.4e-02
esophageal adenocarcinoma 737 3.4e-02
osteosarcoma 7950 4.3e-02
active Crohn's disease 922 4.5e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.6
Liver cancer 604 0.0 0.6
Disease Target Count Z-score Confidence
Atherosclerosis 291 0.0 3.0
Type 2 diabetes mellitus 272 0.0 0.8

Expression

  Differential Expression (44)

Disease log2 FC p
active Crohn's disease 1.036 4.5e-02
adrenocortical carcinoma 1.054 2.2e-02
adult high grade glioma 1.500 1.1e-02
astrocytoma 1.100 1.4e-04
Astrocytoma, Pilocytic 1.600 3.8e-04
atypical teratoid / rhabdoid tumor 1.300 3.0e-03
autosomal dominant Emery-Dreifuss muscul... 1.269 2.5e-02
Becker muscular dystrophy 1.536 1.4e-02
Breast cancer 3.200 2.5e-02
breast carcinoma -1.100 8.6e-03
cutaneous lupus erythematosus 1.200 2.2e-03
cystic fibrosis -1.989 8.9e-07
dermatomyositis 2.000 1.8e-02
Duchenne muscular dystrophy 1.657 7.3e-06
ependymoma 2.100 7.9e-03
esophageal adenocarcinoma 1.800 3.4e-02
gastric carcinoma 2.300 4.1e-03
glioblastoma 1.900 2.7e-06
group 3 medulloblastoma 1.700 3.5e-03
head and neck cancer and chronic obstruc... 1.300 7.7e-03
Hydrolethalus syndrome 1.882 2.9e-02
interstitial cystitis 2.600 6.1e-05
intraductal papillary-mucinous adenoma (... -2.000 3.4e-02
intraductal papillary-mucinous carcinoma... -1.600 1.2e-02
juvenile dermatomyositis 1.912 9.5e-11
limb girdle muscular dystrophy 2B 1.064 1.1e-02
lung adenocarcinoma 1.078 3.4e-04
lung cancer 1.200 1.1e-04
malignant mesothelioma -1.400 5.6e-07
medulloblastoma, large-cell 2.100 3.5e-04
nasopharyngeal carcinoma 2.400 2.6e-07
nephrosclerosis 1.143 1.5e-04
oligodendroglioma 1.200 3.5e-04
osteosarcoma 1.294 4.3e-02
ovarian cancer 3.800 2.2e-06
pancreatic cancer 2.600 2.3e-04
pancreatic ductal adenocarcinoma liver m... 1.752 1.7e-02
periodontitis 1.100 4.6e-29
primitive neuroectodermal tumor 1.300 1.6e-02
psoriasis 1.800 5.3e-03
pterygium 1.300 3.0e-03
subependymal giant cell astrocytoma 2.074 3.0e-02
ulcerative colitis 3.000 7.1e-06
urothelial carcinoma 4.300 7.1e-12

Gene RIF (103)

AA Sequence

MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEG      1 - 70
PQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGL     71 - 140
PGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGP    141 - 210
PGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEP    211 - 280
GKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPG    281 - 350
TPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPG    351 - 420
PPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGF    421 - 490
PGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMTGRAGS    491 - 560
PGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPG    561 - 630
LPGPKGEPGKIVPLPGPPGAEGLPGSPGFPGPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGV    631 - 700
DGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHG    701 - 770
AIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPG    771 - 840
PKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGF    841 - 910
PGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKD    911 - 980
GQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGTPGEKGVPGIPGPQGSPGLPGDKGAKGEKG    981 - 1050
QAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDK   1051 - 1120
GLPGLDGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGE   1121 - 1190
VGFPGLAGSPGIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPG   1191 - 1260
IDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGD   1261 - 1330
QGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGIPGF   1331 - 1400
DGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHG   1401 - 1470
YSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGEN   1471 - 1540
IRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRS   1541 - 1610
APFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT              1611 - 1669
//

Text Mined References (183)

PMID Year Title