Property Summary

NCBI Gene PubMed Count 28
PubMed Score 216.45
PubTator Score 48.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Cutis Laxa 39
Abnormal upper motor neuron morphology 11
Abnormality of pelvic girdle bone morphology 37
Acquired scoliosis 281
Adducted thumb 22
Arcus Senilis 11
Arcus juvenilis 5
Athetosis 16
Autosomal recessive predisposition 1442
Babinski Reflex 100
Bowel diverticula 6
Bowel diverticulosis 6
Brachycephaly 88
Brisk reflexes 3
Broad cranium shape 88
Broad forehead 59
Bulging forehead 66
Carpal bone hypoplasia 6
Cataract 297
Chubby cheeks 50
Clouding of corneal stroma 50
Cognitive delay 608
Congenital Bilateral Cataracts 50
Congenital anomaly of face 56
Congenital cataract 50
Congenital clubfoot 109
Congenital pes cavus 88
Corneal Opacity 53
Curvature of spine 282
De Barsy syndrome 1
Delayed bone age 136
Distortion of face 46
Dull intelligence 645
Dwarfism 37
Dysarthria 192
Dysfunction of lateral corticospinal tracts 1
Dysmorphic facies 46
Epilepsy 792
Failure to gain weight 365
Feeding difficulties 127
Fetal Growth Retardation 189
Frontal bossing 157
Full cheeks 50
Funny looking face 46
Gait abnormality 135
Gastroesophageal reflux disease 110
Generalized amyotrophy 20
Generalized elastolysis 24
Global developmental delay 608
Hanging skin 24
Heartburn 78
Hernia 9
Hernia, Inguinal 89
Hiatal Hernia 7
Hip Dislocation, Congenital 48
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Isolated cases 72
Joint hyperflexibility 78
Large auricle 87
Large bregma sutures 46
Large dysplastic ears 87
Large fontanelle 46
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Large, late-closing fontanelle 46
Late fontanel closure 28
Lens Opacities 231
Low intelligence 645
Low set ears 181
Lower limb spasticity 10
Macrotia 87
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microstomia 78
Monoparesis - leg 27
Muscle hypotonia 571
Myopia 176
Narrow nasal ridge 6
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Orbital separation diminished 23
Orbital separation excessive 244
Pectus excavatum 100
Pediatric failure to thrive 365
Peripheral motor neuropathy 4
Polyneuropathy, Motor 4
Poor school performance 645
Progressive disorder 142
Prominent ear 56
Prominent forehead 66
Prominent superficial vasculature 3
Protruding ears 56
Puffy cheeks 50
Range of joint movement increased 32
Redundant skin 28
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 1
Seizures 596
Short stature 531
Skeletal muscle atrophy 139
Skin Wrinkling 7
Skin hyperelastic 32
Slow progression 89
Small head 374
Small wrist bones 6
Sparse hair 59
Spastic Paraplegia 42
Specific learning disability 47
Strabismus 270
Structure of wormian bone 24
Thin skin 47
Thin, sparse hair 59
Triangular face 58
Umbilical hernia 93
Urinary Retention 6
Vomiting 116
Weakness of lower limb 27
Wide bregma sutures 46
Wide cranial sutures 4
Wide skull shape 88
facial deformity 46
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Multiple Sclerosis 540 0.0 0.8
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0
hereditary spastic paraplegia 318 0.0 4.0

Expression

  Differential Expression (14)

Disease log2 FC p
Astrocytoma, Pilocytic 1.100 7.6e-06
atypical teratoid / rhabdoid tumor 1.400 2.9e-07
ependymoma 1.100 7.8e-09
group 3 medulloblastoma 1.500 3.6e-04
invasive ductal carcinoma 1.200 1.1e-03
lung adenocarcinoma 1.300 2.9e-11
lung cancer 1.900 3.9e-04
medulloblastoma, large-cell 2.000 1.1e-06
non-small cell lung cancer 1.543 9.4e-23
osteosarcoma 2.336 6.5e-05
ovarian cancer 1.200 7.3e-03
pediatric high grade glioma 1.100 4.0e-06
psoriasis 1.200 2.5e-03
ulcerative colitis -1.300 9.5e-10

 GWAS Trait (1)

Gene RIF (15)

AA Sequence

MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHA      1 - 70
KRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQA     71 - 140
LHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHEL    141 - 210
LRMNIVPIVNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDD    211 - 280
AKLIDIFYPGDQQSVTFGTKSRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVG    281 - 350
TFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA    351 - 420
PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQV    421 - 490
AALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTREEVEDLCRLDKMIDLIIPRGS    491 - 560
SQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDLLRTPLF    561 - 630
DQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIV    631 - 700
TEDENTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHV    701 - 770
VSDFSEHGSLKYLHENLPIPQRNTN                                                 771 - 795
//

Text Mined References (34)

PMID Year Title