Property Summary

NCBI Gene PubMed Count 71
PubMed Score 117.76
PubTator Score 109.46

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Cleft Palate 271
Abnormal collecting system 2
Abnormal dermatoglyphic pattern 24
Abnormality of the antihelix 10
Abnormality of the cerebrum 3
Abnormality of the clavicle 14
Absent auditory canals 23
Absent external auditory canals 23
Anteverted nostril 191
Asymmetric crying face association 1
Atresia of the external auditory canal 23
Atretic auditory canal 23
Branchioma 3
Bulbous internal auditory canal 5
Byzanthine arch palate 194
Capuchin ears 17
Cholesteatoma 16
Chubby cheeks 50
Cleft uvula 27
Cochlear malformation 5
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Abnormality 11
Congenital Heart Defects 58
Congenital absence of kidney 31
Congenital deafness 185
Congenital malrotation of intestine 16
Congenital small ears 48
Cupped ears (finding) 17
Deafness 198
Decreased size of teeth 62
Decreased width of tooth 59
Deep overbite 4
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Enlarged cochlear aqueduct 2
Euthyroid Goiter 3
Fara Chlupackova syndrome 2
Fistula of branchial cleft 2
Full cheeks 50
Global developmental delay 608
Gustatory lacrimation 2
Hearing Loss, Mixed Conductive-Sensorineural 12
Hearing Loss, Partial 185
Highly variable severity 157
Hip Dislocation, Congenital 48
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Hypoplastic cochlea 6
Incomplete partition of the cochlea type II 3
Intellectual disability 1016
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long face 71
Long neck 3
Low intelligence 645
Low set ears 181
Macrotia 87
Malformed ossicles 3
Malformed pinnae 37
Malrotation of kidney 2
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Middle ear malformations 5
Mild Mental Retardation 70
Mondini malformation 3
Muscle Hypertonia 88
Narrow face 54
Narrow nose 20
Narrowing of ear canal 13
Overbite 4
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Poor school performance 645
Posterior lingual occlusion of mandibular teeth 4
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Preauricular skin tag 19
Prominent ear 56
Protruding ears 56
Puffy cheeks 50
RENAL ADYSPLASIA 25
Renal dysplasia 28
Renal hypoplasia/aplasia 7
Renal steatosis 4
Retrognathia 54
Scapular weakness 23
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Skin tag on the posterior cheek 19
Sloping shoulders 21
Speech Disorders 58
Stenosis of external auditory canal 13
Thin face 54
Uranostaphyloschisis 167
Variable expressivity 157
Vesico-Ureteral Reflux 33
Winged scapula 23
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (5)

Disease log2 FC p
adult high grade glioma 1.600 7.7e-03
astrocytic glioma 2.100 1.3e-02
lung carcinoma -1.100 1.2e-03
oligodendroglioma 2.000 8.9e-03
sonic hedgehog group medulloblastoma 3.500 7.9e-05

Protein-protein Interaction (2)

Gene RIF (39)

AA Sequence

MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIG      1 - 70
SSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYG     71 - 140
ALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNS    141 - 210
SQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTI    211 - 280
HSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGR    281 - 350
DPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL    351 - 420
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIH    421 - 490
SRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE    491 - 560
EQGAKKHAMPFWRISSHSDLMALHHALELEYL                                          561 - 592
//

Text Mined References (72)

PMID Year Title