Property Summary

NCBI Gene PubMed Count 78
PubMed Score 249.29
PubTator Score 160.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal palmar dermatoglyphics 2
Abnormality of the nares 2
Abnormally small eyeball 97
Absent upper lateral incisors 3
Agenesis of maxillary lateral incisor 3
Aggressive behavior 75
Aggressive reaction 75
Anophthalmos 13
Anus, Imperforate 46
Atrial Septal Defects 85
Auricular malformation 41
Bicuspid aortic valve 16
Bilateral fifth finger clinodactyly 110
Blepharoptosis 231
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Broad hallux 29
Bulging forehead 66
Byzanthine arch palate 194
Cerebral atrophy 178
Ciliary body coloboma 2
Cleft Lip 141
Cleft palate with cleft lip 23
Coarse facial features 108
Cognitive delay 608
Coloboma of iris 38
Coloboma of optic disc 9
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital deafness 185
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of kidney 32
Contracture of joint of hand 30
Corneal diameter decreased 47
Cryptorchidism 296
Curvature of digit 57
Curvature of little finger 110
Deafness 198
Decreased size of eyeball 97
Deep philtrum 21
Degenerative brain disorder 100
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Digitalization of thumbs 6
Dilatation of ureter 15
Downward slant of palpebral fissure 158
Dull intelligence 645
Epilepsy 792
Exophthalmos 112
Flexion contracture of proximal interphalangeal joint 75
Fundus coloboma 18
Glaucoma 239
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hernia, Inguinal 89
High, narrow palate 32
Highly variable severity 157
Hirschsprung Disease 31
Hydronephrosis 89
Hypoplasia of columella 7
Inadequate arch length for tooth size 45
Intellectual disability 1016
Kyphoscoliosis deformity of spine 60
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Late fontanel closure 28
Little's Disease 14
Long eyelashes 37
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Lumbar lordosis 35
Macrotia 87
Malformed pinnae 37
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Microphthalmos 100
Microretrognathia 13
Minimal subcutaneous fat 2
Motor delay 147
Muscle Hypertonia 88
Muscle hypotonia 571
Narrow thorax 53
Nasal bridge wide 236
Neck webbing 35
No development of motor milestones 147
Oral cleft 18
Overfolded helix 24
Pectus excavatum 100
Penile hypospadias 106
Physical aggression 76
Poor growth 114
Poor school performance 645
Postnatal growth retardation 57
Premature ventricular contractions 6
Prenatal onset 139
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Protruding eyes 96
Pulmonary artery stenosis 26
Pyloric Stenosis 47
Radially deviated fingers 38
Rectal prolapse 19
Recurrent infections 48
Recurrent otitis media 42
Redundant skin 28
Renal hypoplasia/aplasia 7
Seizures 596
Self Mutilation 14
Short columella 7
Short stature 531
Simple ear 41
Sloping shoulders 21
Small head 374
Sparse eyebrow 42
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Supratentorial atrophy 94
Supraventricular tachyarrhythmia 1
Supraventricular tachycardia 3
Syndactyly 88
Syndactyly of fingers 48
Tachycardia, Ventricular 22
Thick upper lip vermilion 4
Thickened facial skin with coarse facial features 108
Thin hypoplastic alae nasi 51
Thin upper lip vermilion 67
Tooth Abnormalities 69
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Torsades de Pointes 8
Uroureter 15
Variable expressivity 157
Ventricular Septal Defects 119
Very poor growth 114
Wrinkled face 2
X- linked recessive 110
X-linked dominant 57
hearing impairment 199
Disease Target Count P-value
ovarian cancer 8519 7.2e-07
osteosarcoma 7950 4.7e-04
lung cancer 4740 1.6e-03
non primary Sjogren syndrome sicca 891 2.4e-02
colon cancer 1478 2.6e-02
Disease Target Count Z-score Confidence
Microphthalmia 76 0.0 4.0
Disease Target Count Z-score Confidence
Cancer 2499 3.489 1.7
Disease Target Count
Microphthalmia, Lenz type 2

Expression

  Differential Expression (5)

Disease log2 FC p
colon cancer 1.100 2.6e-02
lung cancer 1.100 1.6e-03
non primary Sjogren syndrome sicca 1.100 2.4e-02
osteosarcoma -1.295 4.7e-04
ovarian cancer 1.700 7.2e-07

Gene RIF (55)

AA Sequence

MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHG      1 - 70
HITSLAVKRSHRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYAD     71 - 140
GEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSK    141 - 210
DLSEVSETTESTDVKDSSEASDSAS                                                 211 - 235
//

Text Mined References (84)

PMID Year Title