Property Summary

NCBI Gene PubMed Count 642
PubMed Score 874.82
PubTator Score 744.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Dentinogenesis imperfecta 25
Otosclerosis 15
Abnormal behavior 52
Abnormality of pelvic girdle bone morphology 37
Abnormality of the thorax 19
Absent ossification of calvaria 2
Acquired flat foot 72
Acquired scoliosis 281
Aortic root dilatation 11
Atrophic scar 18
Autosomal recessive predisposition 1442
Bat ear 3
Beading of ribs 6
Biconcave flattened vertebrae 2
Biconcave vertebral bodies 9
Bilateral congenital dislocation of hip 2
Blue sclera 32
Bowel diverticula 6
Bowel diverticulosis 6
Bowing of limbs due to multiple fractures 3
Breech Presentation 10
Broad long bones 5
Bunion 26
Calvarial hyperostosis 5
Cellulitis 20
Cigarette-paper scars 4
Congenital Epicanthus 177
Congenital deafness 185
Congenital diaphragmatic hernia 67
Congenital neurologic anomalies 20
Congenital pectus carinatum 52
Congestive heart failure 113
Convex nasal ridge 37
Cortical Congenital Hyperostosis 1
Cortical irregularity 1
Crumpled long bones 5
Curvature of spine 282
Deafness 198
Decreased bone mineral density Z score 31
Decreased projection of midface 105
Degenerative polyarthritis 115
Diffusely thickened skin 20
Dilatation of aorta 9
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 2
Ecchymosis 66
Ectopia Lentis 17
Ehlers-Danlos syndrome classic type 3
Enlargement of calvarial bones 5
Erythema 58
Femoral bowing 20
Femoral bowing present at birth, straightening with time 2
Fever 138
Fibrosarcoma 14
Flatfoot 73
Flushing 60
Fragile skin 18
Frequent fractures 53
Frontal bossing 157
Gastroesophageal reflux disease 110
Generalized osteopenia 99
Genu recurvatum 12
Gross motor development delay 21
Hallux Valgus 26
Hearing Loss, Partial 185
Heart failure 162
Heart valve disease 39
Heartburn 78
Hernia, Femoral 7
Hernia, Inguinal 89
Hydrops Fetalis, Non-Immune 8
Hyperesthesia 2
Hyperkyphosis 111
Hypertensive disease 292
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Idiopathic pulmonary arterial hypertension 40
Increased fracture rate 53
Increased ossification of calvarial bones 5
Increased susceptibility to fractures 21
Increased tendency to bruise 66
Infantile muscular hypotonia 12
Irregularly spaced teeth 3
Joint hyperflexibility 78
Joint laxity 54
Kyphosis deformity of spine 114
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Left Ventricular Hypertrophy 47
Lobstein's Disease 2
Low Birth Weights 69
Malar flattening 129
Malignant neoplasm of skin 15
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Molluscoid pseudotumors 5
Multiple fractures present at birth 5
Multiple, subcutaneous nodules 53
Muscle Weakness 170
Muscle hypotonia 571
Myopia 176
Narrow maxilla 3
Osteogenesis imperfecta type III (disorder) 11
Osteogenesis imperfecta type IV (disorder) 10
Osteogenesis imperfecta, dominant perinatal lethal 5
Osteopenia 99
Pachyderma 20
Pectus excavatum 100
Periosteal thickening of long tubular bones 1
Platybasia 13
Platyspondyly 56
Poor wound healing 8
Premature Birth 77
Premature birth following premature rupture of fetal membranes 3
Premature birth of newborn 67
Premature osteoarthritis 6
Protrusio acetabuli 7
Pulmonary Valve Insufficiency 9
Pulmonary hypertension 86
Range of joint movement increased 32
Relative short stature 13
Respiratory Insufficiency 132
Respiratory function loss 121
Severe osteoporosis 2
Short limb dwarfism recognizable at birth 9
Short limb dwarfism, disproportionate 22
Short stature 531
Short stature, mild 13
Skin Diseases, Bacterial 7
Skin Neoplasms 69
Skin Ulcer 48
Skin hyperelastic 32
Slender, gracile long tubular bones 21
Small for gestational age (disorder) 69
Small midface 105
Soft calvaria 8
Soft skin 17
Spontaneous abortion 113
Structure of wormian bone 24
Subcutaneous nodule 53
Thin skin 47
Tibial bowing 19
Triangular face 58
Umbilical hernia 93
Varicosity 12
Varying degree of multiple fractures 53
Velvety skin 17
Wide anterior fontanel 44
Wide bregma sutures 46
abnormal growth 26
hearing impairment 199
pulmonary arterial hypertension 76
Disease Target Count P-value
Breast cancer 3577 1.2e-32
non-small cell lung cancer 2890 1.1e-15
tuberculosis 2010 4.8e-11
lung adenocarcinoma 2716 6.3e-09
urothelial carcinoma 318 1.2e-08
juvenile dermatomyositis 1187 4.1e-07
Duchenne muscular dystrophy 601 4.6e-07
breast carcinoma 1637 1.0e-06
medulloblastoma, large-cell 6241 1.9e-06
lung cancer 4740 8.4e-06
nasopharyngeal carcinoma 1058 1.1e-05
atypical teratoid / rhabdoid tumor 5112 3.7e-05
Astrocytoma, Pilocytic 3081 4.0e-05
glioblastoma 5792 2.4e-04
psoriasis 6694 6.1e-04
limb girdle muscular dystrophy 2A 213 1.1e-03
ovarian cancer 8519 1.5e-03
pancreatic cancer 2398 1.7e-03
primitive neuroectodermal tumor 3035 2.3e-03
interstitial lung disease 298 5.5e-03
intraductal papillary-mucinous adenoma (IPMA) 2954 6.7e-03
pituitary cancer 1972 8.2e-03
adult high grade glioma 3801 8.2e-03
autosomal dominant Emery-Dreifuss muscular dystrophy 510 8.7e-03
gastric carcinoma 807 8.7e-03
pancreatic ductal adenocarcinoma liver metastasis 1962 1.1e-02
intraductal papillary-mucinous carcinoma (IPMC) 2988 1.8e-02
Becker muscular dystrophy 191 1.8e-02
invasive ductal carcinoma 2950 1.9e-02
esophageal adenocarcinoma 737 1.9e-02
interstitial cystitis 2312 2.0e-02
active Crohn's disease 922 2.3e-02
head and neck cancer and chronic obstructive pulmonary disease 239 2.7e-02
colon cancer 1478 2.9e-02
Gaucher disease type 3 67 3.3e-02
ependymoma 4679 3.6e-02
pterygium 76 3.9e-02
ductal carcinoma in situ 1744 4.1e-02
non primary Sjogren syndrome sicca 891 4.2e-02
active ulcerative colitis 764 4.4e-02
group 3 medulloblastoma 4104 4.8e-02
adrenocortical carcinoma 1428 4.9e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Organ system cancer 18 0.0 2.8
Disease Target Count Z-score Confidence
Degenerative disc disease 35 0.0 5.0
Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome 43 5.182 2.6

Expression

  Differential Expression (42)

Disease log2 FC p
active Crohn's disease 1.936 2.3e-02
active ulcerative colitis 1.753 4.4e-02
adrenocortical carcinoma 1.696 4.9e-02
adult high grade glioma 2.200 8.2e-03
Astrocytoma, Pilocytic 2.700 4.0e-05
atypical teratoid / rhabdoid tumor 3.500 3.7e-05
autosomal dominant Emery-Dreifuss muscul... 1.911 8.7e-03
Becker muscular dystrophy 2.854 1.8e-02
Breast cancer 3.800 1.2e-32
breast carcinoma 1.400 1.0e-06
colon cancer 1.700 2.9e-02
Duchenne muscular dystrophy 4.060 4.6e-07
ductal carcinoma in situ 1.500 4.1e-02
ependymoma 2.900 3.6e-02
esophageal adenocarcinoma 2.800 1.9e-02
gastric carcinoma 2.400 8.7e-03
Gaucher disease type 3 1.200 3.3e-02
glioblastoma 2.300 2.4e-04
group 3 medulloblastoma 1.800 4.8e-02
head and neck cancer and chronic obstruc... 1.100 2.7e-02
interstitial cystitis 1.500 2.0e-02
interstitial lung disease 2.700 5.5e-03
intraductal papillary-mucinous adenoma (... -2.400 6.7e-03
intraductal papillary-mucinous carcinoma... -2.400 1.8e-02
invasive ductal carcinoma 2.213 1.9e-02
juvenile dermatomyositis 2.694 4.1e-07
limb girdle muscular dystrophy 2A 2.755 1.1e-03
lung adenocarcinoma 1.500 6.3e-09
lung cancer 2.900 8.4e-06
medulloblastoma, large-cell 4.700 1.9e-06
nasopharyngeal carcinoma 2.600 1.1e-05
non primary Sjogren syndrome sicca 1.200 4.2e-02
non-small cell lung cancer 1.656 1.1e-15
ovarian cancer -2.100 1.5e-03
pancreatic cancer 1.800 1.7e-03
pancreatic ductal adenocarcinoma liver m... 3.576 1.1e-02
pituitary cancer -2.000 8.2e-03
primitive neuroectodermal tumor 2.900 2.3e-03
psoriasis -2.500 6.1e-04
pterygium 1.800 3.9e-02
tuberculosis -5.300 4.8e-11
urothelial carcinoma 3.800 1.2e-08

Protein-protein Interaction (2)

Gene RIF (545)

AA Sequence

MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLC      1 - 70
DDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGL     71 - 140
PGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQGFQGPPGEPGE    141 - 210
PGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDA    211 - 280
GPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVG    281 - 350
AKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP    351 - 420
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGP    421 - 490
GSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAG    491 - 560
QDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE    561 - 630
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGAN    631 - 700
GAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIG    701 - 770
PPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP    771 - 840
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGPAGKEGGKGPR    841 - 910
GETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSG    911 - 980
EPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGA    981 - 1050
PGAPGPVGPAGKSGDRGETGPAGPTGPVGPVGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPP   1051 - 1120
GPPGSPGEQGPSGASGPAGPRGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPG   1121 - 1190
PPSAGFDFSFLPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR   1191 - 1260
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKDKRHVWFGESM   1261 - 1330
TDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQTGNLKKALLLQGSNEIEIRA   1331 - 1400
EGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPIIDVAPLDVGAPDQEFGFDVGPVCFL         1401 - 1464
//

Text Mined References (651)

PMID Year Title