Property Summary

NCBI Gene PubMed Count 33
PubMed Score 29.96
PubTator Score 39.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal cortical bone morphology 22
Acquired scoliosis 281
Aggressive behavior 75
Aggressive reaction 75
Almond-shaped eyes 23
Byzanthine arch palate 194
Cleft Lip 141
Cognitive delay 608
Common ventricle 2
Congenital Epicanthus 177
Convex nasal bridge 57
Curvature of spine 282
Delayed speech and language development 112
Digital anomalies 1
Dull intelligence 645
Epilepsy 792
Generalized hypotonia 37
Global developmental delay 608
Heart Septal Defects 24
Hydronephrosis 89
Hyperactive behavior 91
Hyperkeratosis 50
Hyperkyphosis 111
Hypoplastic mandible condyle 275
Hypoplastic pelvis 9
Hypotrophic malar bone 129
Ichthyosiform Erythroderma, Congenital 6
Inadequate arch length for tooth size 45
Intellectual disability 1016
Irritation - emotion 68
Kyphosis deformity of spine 114
Language Delay 112
Long face 71
Lordosis 54
Low intelligence 645
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Mild Mental Retardation 70
Mild prenatal growth deficiency 1
Nail Diseases 24
Nail abnormality 22
Narrow face 54
Pachygyria 41
Parakeratosis 7
Physical aggression 76
Polymicrogyria 48
Poor school performance 645
Posteriorly rotated ear 61
Prominent nasal bridge 57
Range of joint movement increased 32
Retrognathia 54
Seizures 596
Short extremities 7
Sleep disturbances 37
Slender build 14
Small head 374
Speech Delay 112
Speech impairment 112
Squamous cell carcinoma of the head and neck 29
Stippled epiphyses 28
Strabismus 270
Thin face 54
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Umbilical hernia 93
Upward slant of palpebral fissure 75
X- linked recessive 110
X-linked dominant 57
Disease Target Count
NSDHL-Related Disorders 1

Expression

  Differential Expression (5)

Disease log2 FC p
intraductal papillary-mucinous neoplasm ... 1.100 1.5e-02
osteosarcoma -1.074 8.4e-03
ovarian cancer 1.200 1.1e-03
pancreatic ductal adenocarcinoma liver m... -1.344 5.5e-04
psoriasis 1.100 2.1e-03

Protein-protein Interaction (1)

Gene RIF (14)

AA Sequence

MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQ      1 - 70
QGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKL     71 - 140
ILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQ    141 - 210
LVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLS    211 - 280
RILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQ    281 - 350
PLVTMDDAMERTVQSFRHLRRVK                                                   351 - 373
//

Text Mined References (40)

PMID Year Title