Property Summary

NCBI Gene PubMed Count 18
PubMed Score 21.50
PubTator Score 10.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of the joint spaces of the elbow 1
Abnormality of the skull base 1
Abnormally small eyeball 97
Absent proximal finger flexion creases 1
Ambiguous genitalia due to virilization 9
Ambiguous genitalia, female 9
Ambiguous genitalia, male 9
Anterior rounding of vertebral bodies 1
Auricular malformation 41
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Brachydactyly 156
Cleft Palate 271
Congenital Camptodactyly 40
Congenital anomaly of face 56
Congenital clubfoot 109
Congenital deafness 185
Congenital dislocation of radial head 14
Congenital hypoplasia of femur 8
Contracture of joint of hand 30
Corneal diameter decreased 47
Curvature of little finger 110
Deafness 198
Decreased size of eyeball 97
Distortion of face 46
Dysmorphic facies 46
Enophthalmos 75
Excessive face hair 2
Facial hirsutism 2
Fibular aplasia 6
Flexion contracture - elbow 32
Flexion contracture - wrist 6
Frontal bossing 157
Funny looking face 46
Hearing Loss, Partial 185
Hip Dislocation, Congenital 48
Hydranencephaly 11
Hydrocephalus 152
Hydronephrosis 89
Hypertrophied alveolar ridge 2
Hypoplastic ilia 12
Hypoplastic iliac wing 19
Hypoplastic ischia 11
Hypoplastic mandible condyle 275
Hypoplastic pubic bone 7
Hypoplastic scapulae 14
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Large tailbone 1
Long clavicle 7
Low posterior hairline 52
Low set ears 181
Mandibular hypoplasia 275
Mesomelia 8
Mesomelic lower limb shortening 1
Microcornea 47
Microglossia 10
Micrognathism 275
Microphthalmos 100
Microtia, first degree 3
Narrowing of ear canal 13
Orbital separation excessive 244
Prominent protruding coccyx 1
Radiohumeral synostosis of elbow 8
Ramer Ladda syndrome 8
Redundant neck skin 4
Rhizomelia 25
Short neck 140
Short palpebral fissure 38
Short stature 531
Simple ear 41
Simple syndactyly of toes, first web space 23
Small tongue 10
Small wings of the pelvic girdle 12
Stenosis of external auditory canal 13
Strabismus 270
Sunken eyes 63
Syndactyly (4-5 toes) 3
Syndactyly of the toes 45
Thick alveolar ridges 2
Uranostaphyloschisis 167
facial deformity 46
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Melanoma 711 0.0 0.5
Skin cancer 469 0.0 0.5
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 3.0
Obesity 678 0.0 3.0
Disease Target Count Z-score Confidence
ulnar-mammary syndrome 8 4.275 2.1

Expression

  Differential Expression (5)

Disease log2 FC p
ductal carcinoma in situ -2.000 1.3e-04
invasive ductal carcinoma -2.500 2.6e-05
lung adenocarcinoma 1.100 1.8e-03
lung carcinoma 1.100 3.8e-08
sonic hedgehog group medulloblastoma 1.200 1.6e-03

Gene RIF (12)

AA Sequence

MSERRRSAVALSSRAHAFSVEALIGSNKKRKLRDWEEKGLDLSMEALSPAGPLGDTEDAAAHGLEPHPDS      1 - 70
EQSTGSDSEVLTERTSCSFSTHTDLASGAAGPVPAAMSSMEEIQVELQCADLWKRFHDIGTEMIITKAGR     71 - 140
RMFPAMRVKITGLDPHQQYYIAMDIVPVDNKRYRYVYHSSKWMVAGNADSPVPPRVYIHPDSLASGDTWM    141 - 210
RQVVSFDKLKLTNNELDDQGHIILHSMHKYQPRVHVIRKDFSSDLSPTKPVPVGDGVKTFNFPETVFTTV    211 - 280
TAYQNQQITRLKIDRNPFAKGFRDSGRNRTGLEAIMETYAFWRPPVRTLTFEDFTTMQKQQGGSTGTSPT    281 - 350
TSSTGTPSPSASSHLLSPSCSPPTFHLAPNTFNVGCRESQLCNLNLSDYPPCARSNMAALQSYPGLSDSG    351 - 420
YNRLQSGTTSATQPSETFMPQRTPSLISGIPTPPSLPGNSKMEAYGGQLGSFPTSQFQYVMQAGNAASSS    421 - 490
SSPHMFGGSHMQQSSYNAFSLHNPYNLYGYNFPTSPRLAASPEKLSASQSTLLCSSPSNGAFGERQYLPS    491 - 560
GMEHSMHMISPSPNNQQATNTCDGRQYGAVPGSSSQMSVHMV                                561 - 602
//

Text Mined References (20)

PMID Year Title