Property Summary

NCBI Gene PubMed Count 215
PubMed Score 354.78
PubTator Score 310.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Pneumothorax 23
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) 3
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 1
Abnormal eyelashes 13
Abnormality of oral frenula 7
Abnormality of the urinary system 21
Absence of eyebrows 31
Absent earlobe 9
Absent scalp hair 5
Acquired scoliosis 281
Acro-Osteolysis 12
Acrogeria 1
Acrogeria, gottron type 1
Alopecia 115
Aneurysm, Dissecting 8
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Arteriovenous fistulas of celiac and mesenteric vessels 3
Bladder Diverticulum 15
Brain Aneurysm 8
Cerebral arterial aneurysm 8
Cigarette-paper scars 4
Cognitive delay 608
Congenital Epicanthus 177
Congenital clubfoot 109
Convex nasal ridge 37
Cryptorchidism 296
Curvature of spine 282
Degenerative polyarthritis 115
Dental caries 164
Dissection of aorta 9
Dull intelligence 645
Early tooth exfoliation 17
Ecchymosis 66
Ehlers-Danlos Syndrome, Type IV 2
Ehlers-Danlos syndrome, type 3 (disorder) 2
Excessive wrinkled skin 16
Exophthalmos 112
Fine hair 42
Flat face 52
Foot acroosteolysis 5
Fragile skin 18
Gastrointestinal infarctions 2
Gingival Diseases 19
Glaucoma 239
Global developmental delay 608
Hemoptysis 6
Hernia, Inguinal 89
Hypermobility of distal interphalangeal joints 1
Hypertensive disease 292
Hypokalemia 52
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Impaired cognition 96
Increased tendency to bruise 66
Intellectual disability 1016
Internal haemorrhage 2
Irregular hyperpigmentation 33
Joint hyperflexibility 78
Joint laxity 54
Keratoconus 113
Left Ventricular Hypertrophy 47
Linear atrophy 15
Lipoatrophy 19
Loss of scalp hair 5
Low intelligence 645
Macule 19
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Mitral Valve Prolapse Syndrome 39
Molluscoid pseudotumors 5
Noncancerous mole 28
Orbital separation excessive 244
Pectus excavatum 100
Periodontal Diseases 21
Peripheral arteriovenous fistula 3
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Premature delivery because of cervical insufficiency or membrane fragility 1
Premature tooth loss 17
Prominent ear 56
Prominent eyes 96
Prominent globes 96
Protruding ears 56
Protruding eyes 96
Respiratory Insufficiency 132
Respiratory function loss 121
Rotting teeth 73
Short stature 531
Skin hyperelastic 32
Small hand 36
Soft skin 17
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Spontaneous pneumothorax 1
Sprengel deformity 16
Telangiectasia of the skin 39
Telecanthus 62
Thin lips 49
Thin skin 47
Translucent skin 4
Uterine Prolapse 3
Varicosity 12
Velvety skin 17
periodontitis 293
Disease Target Count P-value
Breast cancer 3578 2.1e-17
non-small cell lung cancer 2890 7.9e-16
lung adenocarcinoma 2716 9.7e-13
juvenile dermatomyositis 1187 5.3e-07
Duchenne muscular dystrophy 601 6.5e-07
atypical teratoid / rhabdoid tumor 5112 2.3e-06
medulloblastoma, large-cell 6241 4.9e-06
glioblastoma 5792 6.8e-06
Astrocytoma, Pilocytic 3081 1.2e-05
lung cancer 4740 1.9e-05
ulcerative colitis 1819 2.2e-05
urothelial carcinoma 318 5.0e-05
nasopharyngeal carcinoma 1058 1.0e-04
osteosarcoma 7950 2.4e-04
limb girdle muscular dystrophy 2A 213 4.9e-04
ovarian cancer 8520 6.5e-04
group 3 medulloblastoma 4104 1.3e-03
primitive neuroectodermal tumor 3035 1.6e-03
ependymoma 4679 3.2e-03
pancreatic cancer 2398 3.9e-03
astrocytoma 1146 4.1e-03
adult high grade glioma 3801 6.3e-03
subependymal giant cell astrocytoma 2287 6.5e-03
pancreatic ductal adenocarcinoma liver metastasis 1962 6.9e-03
gastric carcinoma 807 8.8e-03
intraductal papillary-mucinous adenoma (IPMA) 2955 1.1e-02
oligodendroglioma 2850 1.2e-02
non primary Sjogren syndrome sicca 891 1.3e-02
Becker muscular dystrophy 191 1.5e-02
pterygium 76 1.7e-02
esophageal adenocarcinoma 737 1.8e-02
fascioscapulohumeral muscular dystrophy 100 2.1e-02
nephrosclerosis 333 2.7e-02
interstitial lung disease 298 3.2e-02
Amyotrophic lateral sclerosis 451 3.4e-02
intraductal papillary-mucinous carcinoma (IPMC) 2989 4.1e-02
chronic kidney disease 90 4.3e-02
head and neck cancer 271 4.4e-02
head and neck cancer and chronic obstructive pulmonary disease 239 5.0e-02
Disease Target Count Z-score Confidence
Aortic aneurysm 38 3.796 1.9

Expression

  Differential Expression (39)

Disease log2 FC p
Breast cancer 4.100 2.1e-17
adult high grade glioma 2.000 6.3e-03
Amyotrophic lateral sclerosis 1.317 3.4e-02
astrocytoma 1.200 4.1e-03
Astrocytoma, Pilocytic 2.900 1.2e-05
atypical teratoid / rhabdoid tumor 3.900 2.3e-06
Becker muscular dystrophy 2.155 1.5e-02
chronic kidney disease 1.600 4.3e-02
Duchenne muscular dystrophy 2.933 6.5e-07
ependymoma 1.900 3.2e-03
esophageal adenocarcinoma 1.800 1.8e-02
fascioscapulohumeral muscular dystrophy 1.219 2.1e-02
gastric carcinoma 2.200 8.8e-03
glioblastoma 2.600 6.8e-06
group 3 medulloblastoma 2.700 1.3e-03
head and neck cancer -1.700 4.4e-02
head and neck cancer and chronic obstruc... 1.300 5.0e-02
interstitial lung disease 1.900 3.2e-02
intraductal papillary-mucinous adenoma (... -2.700 1.1e-02
intraductal papillary-mucinous carcinoma... -2.300 4.1e-02
juvenile dermatomyositis 1.899 5.3e-07
limb girdle muscular dystrophy 2A 2.178 4.9e-04
lung adenocarcinoma 1.900 9.7e-13
lung cancer 2.000 1.9e-05
medulloblastoma, large-cell 4.600 4.9e-06
nasopharyngeal carcinoma 2.100 1.0e-04
nephrosclerosis 1.115 2.7e-02
non primary Sjogren syndrome sicca 1.600 1.3e-02
non-small cell lung cancer 2.460 7.9e-16
oligodendroglioma 1.100 1.2e-02
osteosarcoma 3.682 2.4e-04
ovarian cancer -3.200 6.5e-04
pancreatic cancer 1.400 3.9e-03
pancreatic ductal adenocarcinoma liver m... 2.732 6.9e-03
primitive neuroectodermal tumor 3.100 1.6e-03
pterygium 1.800 1.7e-02
subependymal giant cell astrocytoma 2.404 6.5e-03
ulcerative colitis 3.100 2.2e-05
urothelial carcinoma 3.700 5.0e-05

Protein-protein Interaction (1)

Gene RIF (131)

AA Sequence

MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQ      1 - 70
ELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGI     71 - 140
CESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAG    141 - 210
PSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGA    211 - 280
PGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAK    281 - 350
GEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG    351 - 420
ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGF    421 - 490
RGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGES    491 - 560
GRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKG    561 - 630
DTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGP    631 - 700
PGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPP    701 - 770
GPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG    771 - 840
VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGN    841 - 910
TGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQGVKGES    911 - 980
GKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGHPG    981 - 1050
PPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGS   1051 - 1120
PGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPP   1121 - 1190
GAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR   1191 - 1260
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGE   1261 - 1330
SMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEF   1331 - 1400
KAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVGPVCFL       1401 - 1466
//

Text Mined References (222)

PMID Year Title