Property Summary

NCBI Gene PubMed Count 34
PubMed Score 80.13
PubTator Score 32.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 1 0.0 0.0
Disease Target Count
Intellectual disability 1016
Abnormality of female external genitalia 8
Abnormality of the antihelix 10
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Axial hypotonia 46
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Blepharoptosis 231
Broad thumbs 28
Bushy eyebrows 49
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital deafness 185
Cryptorchidism 296
Curvature of little finger 110
Deafness 198
Delayed bone age 136
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Dysarthria 192
Eczema 45
Fetal Growth Retardation 189
Fine hair 42
Global developmental delay 608
Hearing Loss, Partial 185
Hyperplasia of nose 23
Hyperreflexia 209
Hypertrophy of nose 23
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Language Delay 112
Large nose 23
Late fontanel closure 28
Laterally sparse eyebrows 12
Long face 71
Low Birth Weights 69
Low anterior hairline 30
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Muscle Spasticity 195
Narrow face 54
Orbital separation diminished 23
Orbital separation excessive 244
Penile hypospadias 106
Poor school performance 645
Postnatal growth retardation 57
Prominent ear 56
Protruding ears 56
Recurrent infections 48
Respiratory Insufficiency 132
Respiratory function loss 121
Sandal gap 24
Short lower third of face 9
Short philtrum 53
Short stature 531
Sloping forehead 46
Small chin 9
Small for gestational age (disorder) 69
Small hand 36
Small head 374
Smooth philtrum 43
Sparse scalp hair 42
Speech Delay 112
Speech impairment 112
Strabismus 270
Submucous cleft of hard palate 11
Submucous clefting 9
Synophrys 40
Telecanthus 62
Thin face 54
Thin hypoplastic alae nasi 51
Thumb absent or hypoplastic 9
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Wide anterior fontanel 44
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 1.2
Disease Target Count
Dubowitz syndrome 13

Expression

  Differential Expression (6)

Synonym

Accession Q08J23 A8K529 B2RNR4 B3KP09 B4DQW2 G3V1R4 Q9BVN4 Q9H858 Q9NXD9
Symbols MISU
MRT5
SAKI
TRM4

Gene

 GWAS Trait (1)

Protein-protein Interaction (8)

Gene RIF (26)

AA Sequence

MGRRSRGRRLQQQQRPEDAEDGAEGGGKRGEAGWEGGYPEIVKENKLFEHYYQELKIVPEGEWGQFMDAL      1 - 70
REPLPATLRITGYKSHAKEILHCLKNKYFKELEDLEVDGQKVEVPQPLSWYPEELAWHTNLSRKILRKSP     71 - 140
HLEKFHQFLVSETESGNISRQEAVSMIPPLLLNVRPHHKILDMCAAPGSKTTQLIEMLHADMNVPFPEGF    141 - 210
VIANDVDNKRCYLLVHQAKRLSSPCIMVVNHDASSIPRLQIDVDGRKEILFYDRILCDVPCSGDGTMRKN    211 - 280
IDVWKKWTTLNSLQLHGLQLRIATRGAEQLAEGGRMVYSTCSLNPIEDEAVIASLLEKSEGALELADVSN    281 - 350
ELPGLKWMPGITQWKVMTKDGQWFTDWDAVPHSRHTQIRPTMFPPKDPEKLQAMHLERCLRILPHHQNTG    351 - 420
GFFVAVLVKKSSMPWNKRQPKLQGKSAETRESTQLSPADLTEGKPTDPSKLESPSFTGTGDTEIAHATED    421 - 490
LENNGSKKDGVCGPPPSKKMKLFGFKEDPFVFIPEDDPLFPPIEKFYALDPSFPRMNLLTRTTEGKKRQL    491 - 560
YMVSKELRNVLLNNSEKMKVINTGIKVWCRNNSGEEFDCAFRLAQEGIYTLYPFINSRIITVSMEDVKIL    561 - 630
LTQENPFFRKLSSETYSQAKDLAKGSIVLKYEPDSANPDALQCPIVLCGWRGKASIRTFVPKNERLHYLR    631 - 700
MMGLEVLGEKKKEGVILTNESAASTGQPDNDVTEGQRAGEPNSPDAEEANSPDVTAGCDPAGVHPPR       701 - 767
//

Text Mined References (51)

PMID Year Title