Property Summary

NCBI Gene PubMed Count 29
PubMed Score 340.03
PubTator Score 189.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
Abnormal bone maturation 1
Abnormal bone ossification 1
Acquired scoliosis 281
Agenesis of corpus callosum 83
Autosomal recessive predisposition 1442
Beaked vertebral bodies 9
Biconcave vertebral bodies 9
Blepharophimosis 70
Blue sclera 32
Bowing of the long bones 31
Broad forehead 59
Bulging forehead 66
Cognitive delay 608
Collapse of vertebra 14
Compression fracture of vertebral column 14
Cryptorchidism 296
Curvature of spine 282
Decreased projection of midface 105
Delayed speech and language development 112
Downward slant of palpebral fissure 158
Dull intelligence 645
Dwarfism 37
Enophthalmos 75
Excessive wrinkled skin 16
Failure to gain weight 365
Fetal Growth Retardation 189
Fine hair 42
Flexion contracture - elbow 32
Frequent fractures 53
Frontal bossing 157
Gastroesophageal reflux disease 110
Generalized elastolysis 24
Generalized osteopenia 99
Geroderma osteodysplastica 2
Global developmental delay 608
Hanging skin 24
Heartburn 78
Hernia, Inguinal 89
Hip Dislocation, Congenital 48
Hydrocephalus 152
Hydrophthalmos 19
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased fracture rate 53
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint hyperflexibility 78
Language Delay 112
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Low intelligence 645
Malar flattening 129
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Midface retrusion 105
Muscle hypotonia 571
Narrow nasal ridge 6
Orbital separation excessive 244
Osteopenia 99
Osteoporosis 363
Pediatric failure to thrive 365
Poor school performance 645
Posteriorly rotated ear 61
Prominent ear 56
Prominent forehead 66
Protruding ears 56
Range of joint movement increased 32
Redundant skin 28
Skin hyperelastic 32
Small head 374
Small midface 105
Sparse hair 59
Speech Delay 112
Speech impairment 112
Sunken eyes 63
Thin lips 49
Thin skin 47
Thin, sparse hair 59
Translucent skin 4
Triangular face 58
Varying degree of multiple fractures 53
Wedging of vertebra 9
Wide bregma sutures 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Gyrate atrophy 7 4.29 2.1

Expression

  Differential Expression (13)

Disease log2 FC p
Breast cancer 1.700 6.7e-06
breast carcinoma 1.700 6.8e-04
ductal carcinoma in situ 1.100 1.3e-04
fibroadenoma 1.800 1.9e-02
invasive ductal carcinoma 1.800 5.2e-05
lung adenocarcinoma 1.200 1.1e-16
lung cancer 1.200 2.1e-03
medulloblastoma, large-cell 1.800 2.4e-05
non-small cell lung cancer 1.819 4.0e-25
osteosarcoma 1.813 6.8e-04
ovarian cancer 1.100 8.2e-05
primary Sjogren syndrome -1.100 2.0e-02
psoriasis 1.500 8.7e-04

 IMPC Phenotype (1)

Protein-protein Interaction (4)

Gene RIF (16)

AA Sequence

MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETVQHSDVLFLAV      1 - 70
KPHIIPFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRCMTNTPVVVREGATVYATGTH     71 - 140
AQVEDGRLMEQLLSSVGFCTEVEEDLIDAVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQAL    141 - 210
LGAAKMLLHSEQHPGQLKDNVSSPGGATIHALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPA    211 - 280
AIKKTILDKVKLDSPAGTALSPSGHTKLLPRSLAPAGKD                                   281 - 319
//

Text Mined References (36)

PMID Year Title