Property Summary

NCBI Gene PubMed Count 13
PubMed Score 87.09
PubTator Score 15.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Lenz Majewski hyperostotic dwarfism 1 0.0 0.0
Disease Target Count
Agenesis of corpus callosum 83
Anteriorly placed anus 7
Broad clavicle 5
Broad forehead 59
Broad ribs 12
Bulging forehead 66
Choanal Atresia 42
Choanal stenosis 11
Chordee 6
Cryptorchidism 296
Cutis Laxa 39
Cutis marmorata 32
Delayed bone age 136
Dental abnormalities 60
Diaphyseal thickening 11
Dull intelligence 645
Failure to gain weight 365
Fetal Growth Retardation 189
Flexion contracture - elbow 32
Frontal bossing 157
Generalized elastolysis 24
Hanging skin 24
Hernia, Inguinal 89
Hyperextensible digits 7
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Isolated cases 72
Large auricle 87
Large bregma sutures 46
Large dysplastic ears 87
Large fontanelle 46
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Large, late-closing fontanelle 46
Late fontanel closure 28
Low intelligence 645
Macrotia 87
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Microglossia 10
Micrognathism 275
Moderate mental retardation (I.Q. 35-49) 28
Muscle hypotonia 571
Orbital separation excessive 244
Pediatric failure to thrive 365
Penile hypospadias 106
Poor school performance 645
Progressive sclerosis of skull base 1
Prominent forehead 66
Prominent scalp veins 3
Proximal symphalangism of hands 2
Radiohumeral synostosis of elbow 8
Ramer Ladda syndrome 8
Relative macrocephaly 12
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Short to absent middle phalanges 5
Small tongue 10
Sparse hair 59
Splayed metaphyses 19
Stenosis of nasolacrimal duct 4
Syndactyly 88
Thin skin 47
Thin, sparse hair 59
Tooth Abnormalities 69
Wide bregma sutures 46
Disease Target Count P-value
ovarian cancer 8520 1.7e-04
Multiple myeloma 1332 2.1e-04
group 4 medulloblastoma 1855 3.6e-04
lung cancer 4740 1.6e-03
Waldenstrons macroglobulinemia 765 6.0e-03
Breast cancer 3578 3.6e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Asphyxiating thoracic dystrophy 44 5.458 2.7
Sengers syndrome 18 4.124 2.1
Disease Target Count
Lenz-Majewski Hyperostotic Dwarfism 1

Expression

  Differential Expression (6)

Disease log2 FC p
Breast cancer 2.800 3.6e-02
group 4 medulloblastoma -1.100 3.6e-04
lung cancer 1.600 1.6e-03
Multiple myeloma 1.758 2.1e-04
ovarian cancer 2.000 1.7e-04
Waldenstrons macroglobulinemia 1.488 6.0e-03

Gene RIF (7)

AA Sequence

MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIW      1 - 70
RGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYA     71 - 140
TREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNF    141 - 210
AECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDP    211 - 280
KSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRV    281 - 350
GTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECE    351 - 420
DGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK                     421 - 473
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Text Mined References (25)

PMID Year Title