Property Summary

NCBI Gene PubMed Count 45
PubMed Score 52.96
PubTator Score 64.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Intellectual disability 1016
Abnormality of the rib cage 12
Acquired scoliosis 281
Anus, Imperforate 46
Anxiety 136
Anxiety disease 113
Arachnodactyly 49
Atrial Septal Defects 85
Bilateral fifth finger clinodactyly 110
Blind Vision 111
Blindness, Legal 110
Brachycephaly 88
Brittle hair 25
Broad cranium shape 88
Broad flat nasal bridge 236
Bulbous nasal tip 48
Bulbous nose 48
Byzanthine arch palate 194
Capuchin ears 17
Cataract 297
Cerebral atrophy 178
Class III malocclusion 78
Cleft Palate 271
Cognitive delay 608
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital deafness 185
Congenital ocular coloboma (disorder) 40
Congenital pes cavus 88
Congenital phimosis 4
Contracture of joint of hand 30
Cupped ears (finding) 17
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Death in early childhood 82
Death in infancy 82
Degenerative brain disorder 100
Dry hair 7
Dull intelligence 645
Dystrophia unguium 53
Epilepsy 792
Fractured hair 25
Fragile hair 25
Global developmental delay 608
Hearing Loss, Partial 185
Hypernasal voice 39
Hyperopia 70
Hyperreflexia 209
Hypertrophy of lower jaw 78
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Increased size of mandible 78
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Laterally sparse eyebrows 12
Lens Opacities 231
Little's Disease 14
Long face 71
Low intelligence 645
Macroglossia 65
Macrotia 87
Malar flattening 129
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microstomia 78
Muscle Spasticity 195
Narrow face 54
Narrow foot 3
Nasal bridge wide 236
Nasal voice 39
Pectus excavatum 100
Penile hypospadias 106
Poor school performance 645
Poor suck 17
Potato nose 48
Prominent ear 56
Protruding ears 56
Reduced tensile strength of hair 25
Seizures 596
Short philtrum 53
Short stature 531
Situs Inversus 65
Situs ambiguus 25
Small head 374
Small testicle 75
Sparse hair 59
Strabismus 270
Supratentorial atrophy 94
Tetralogy of Fallot 67
Thin face 54
Thin upper lip vermilion 67
Thin, sparse hair 59
Triangular face 58
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Wide skull shape 88
X- linked recessive 110
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count P-value
osteosarcoma 7950 6.8e-08
psoriasis 6694 2.7e-04
Multiple myeloma 1332 2.5e-03
ovarian cancer 8520 5.8e-03
adult high grade glioma 3801 7.8e-03
non primary Sjogren syndrome sicca 891 2.3e-02

Expression

  Differential Expression (6)

Disease log2 FC p
adult high grade glioma -1.300 7.8e-03
Multiple myeloma 1.072 2.5e-03
non primary Sjogren syndrome sicca 1.400 2.3e-02
osteosarcoma -2.397 6.8e-08
ovarian cancer 1.100 5.8e-03
psoriasis -1.500 2.7e-04

Gene RIF (20)

AA Sequence

MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADT      1 - 70
DLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDR     71 - 140
DRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYS    141 - 210
DAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD                   211 - 265
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Text Mined References (57)

PMID Year Title