Property Summary

NCBI Gene PubMed Count 26
PubMed Score 33.38
PubTator Score 79.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Smith-McCort dysplasia 3 7.047 3.5
Dyggve-Melchior-Clausen syndrome 1 0.0 0.0
Disease Target Count
Intellectual disability 1016
Abnormal skeletal development 60
Abnormality of epiphysis morphology 39
Abnormality of the ilium 1
Abnormality of the metaphyses 48
Abnormality of the wrist 2
Acquired scoliosis 281
Atlantoaxial instability 3
Autosomal recessive predisposition 1442
Barrel chest 12
Beaked vertebral bodies 9
Broad chest 8
Broad feet 19
Carpal bone hypoplasia 6
Class III malocclusion 78
Coarse facial features 108
Cognitive delay 608
Cone-shaped epiphyses of phalanges 15
Congenital Camptodactyly 40
Congenital pectus carinatum 52
Curvature of spine 282
Deformed sella turcica 1
Delayed femoral head ossification 1
Delayed maturation of the head of the thigh bone 1
Dull intelligence 645
Enlargement of the costochondral junction 4
Flat acetabular roof 10
Flat glenoid fossa 2
Flattening of facial bones 4
Genu varum 29
Global developmental delay 608
Global developmental delay, severe 47
Hyperkyphosis 111
Hypertrophy of lower jaw 78
Hypoplastic acetabulae 3
Hypoplastic facial bones 4
Hypoplastic iliac wing 19
Hypoplastic scapulae 14
Hypotrophic facial bones 4
Increased size of mandible 78
Increased thickness of cranium 17
Irregular epiphyses 10
Irregular lacy iliac crest 3
Joint stiffness 84
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Long narrow head 75
Lordosis 54
Low intelligence 645
Lumbar lordosis 35
Mandibular hyperplasia 78
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metaphyseal irregularity 23
Micromelia 58
Multicentric femoral head ossification 1
Multicentric ossification of proximal femoral epiphyses 1
Multicentric ossification of proximal humeral epiphyses 1
Narrow cranium shape 75
Narrow head shape 75
Narrow sacrosciatic notch 6
Narrow skull shape 75
ODONTOID HYPOPLASIA 16
Osteochondrodysplasias 72
Platyspondyly 56
Poor school performance 645
Postnatal growth retardation 57
Prominent sternum 4
Rhizomelia 25
Schizophrenia 1160
Severe psychomotor retardation 47
Shield chest 8
Short metacarpal 43
Short metatarsal 21
Short neck 140
Short phalanx of finger 32
Short thorax 21
Short-trunked dwarfism 13
Sloping forehead 46
Small facial bones 4
Small head 374
Small wrist bones 6
Spade-like hand 16
Speech Disorders 58
Spinal canal stenosis 12
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Thoracic kyphosis 6
Turridolichocephaly 75
Underdevelopment of facial bones 4
Waddling gait 34
Wedging of vertebra 9
Wide pubic symphysis 3
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 3.0
Dental caries 164 0.0 1.1
Disease Target Count
SMITH-MCCORT DYSPLASIA 1 1

Expression

Gene RIF (11)

AA Sequence

MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPR      1 - 70
TGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNY     71 - 140
SSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPY    141 - 210
TSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPL    211 - 280
ANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATL    281 - 350
LLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK    351 - 420
NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFS    421 - 490
LLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYK    491 - 560
RDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKKFPELKFKYV    561 - 630
EEEQPEEFFIPYVWSLVYNSAVGLYWNPQDIQLFTMDSD                                   631 - 669
//

Text Mined References (29)

PMID Year Title