Property Summary

NCBI Gene PubMed Count 50
PubMed Score 169.60
PubTator Score 215.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
CODAS syndrome 1 0.0 0.0
Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormality of epiphysis morphology 39
Acquired scoliosis 281
Anteverted nostril 191
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Blepharoptosis 231
Brachydactyly 156
Broad skull 2
Carpal delayed ossification 4
Cataract 297
Central cleft of nose 3
Cognitive delay 608
Concave bridge of nose 195
Congenital Bilateral Cataracts 50
Congenital Epicanthus 177
Congenital cataract 50
Coronal cleft vertebrae 8
Crumpled ear 3
Curvature of spine 282
Defective enamel matrix 35
Defective tooth enamel 31
Delayed bone age 136
Delayed maturation of wrist bone 4
Dental Enamel Hypoplasia 43
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dysplasia of tooth enamel 35
Dystrophic tooth enamel 31
Enamel abnormalities 31
Endocardial Cushion Defects 17
Flat face 52
Global developmental delay 608
Hip Dislocation, Congenital 48
Hoarse voice due to vocal cord paresis 3
Hypoplasia of corpus callosum 90
Joint hyperflexibility 78
Knee joint valgus deformity 56
Late tooth eruption 61
Lens Opacities 231
Mental and motor retardation 608
Midline defect of the nose 3
Muscle hypotonia 571
ODONTOID HYPOPLASIA 16
Overfolded helix 24
Partial Paralysis (Paresis) Vocal Cords 3
Polyhydramnios 108
Pyle metaphyseal dysplasia 8
Sensorineural Hearing Loss (disorder) 284
Short metacarpal 43
Short nose 132
Short phalanx of finger 32
Short stature 531
Short upper arms 16
Small nose 132
Square iliac bones 4
Thin dental enamel 35
Tooth Abnormalities 69
Ventricular Septal Defects 119
Vocal cord paresis in severe cases 3
Weakness of vocal cord 3
Disease Target Count P-value
psoriasis 6694 4.5e-06
ovarian cancer 8520 3.0e-04
diabetes mellitus 1728 2.1e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9

Expression

  Differential Expression (3)

Disease log2 FC p
diabetes mellitus -1.300 2.1e-03
ovarian cancer 1.500 3.0e-04
psoriasis 3.100 4.5e-06

Gene RIF (34)

AA Sequence

MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLRGQRTCDASPPWALWGRGPAIGGQWRGFWE      1 - 70
ASSRGGGAFSGGEDASEGGAEEGAGGAGGSAGAGEGPVITALTPMTIPDVFPHLPLIAITRNPVFPRFIK     71 - 140
IIEVKNKKLVELLRRKVRLAQPYVGVFLKRDDSNESDVVESLDEIYHTGTFAQIHEMQDLGDKLRMIVMG    141 - 210
HRRVHISRQLEVEPEEPEAENKHKPRRKSKRGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVH    211 - 280
EDFQVTEEVKALTAEIVKTIRDIIALNPLYRESVLQMMQAGQRVVDNPIYLSDMGAALTGAESHELQDVL    281 - 350
EETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIEEK    351 - 420
FRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFNVTRNYLDWLTSIPWGKYSNENLDLARAQAVLEED    421 - 490
HYGMEDVKKRILEFIAVSQLRGSTQGKILCFYGPPGVGKTSIARSIARALNREYFRFSVGGMTDVAEIKG    491 - 560
HRRTYVGAMPGKIIQCLKKTKTENPLILIDEVDKIGRGYQGDPSSALLELLDPEQNANFLDHYLDVPVDL    561 - 630
SKVLFICTANVTDTIPEPLRDRMEMINVSGYVAQEKLAIAERYLVPQARALCGLDESKAKLSSDVLTLLI    631 - 700
KQYCRESGVRNLQKQVEKVLRKSAYKIVSGEAESVEVTPENLQDFVGKPVFTVERMYDVTPPGVVMGLAW    701 - 770
TAMGGSTLFVETSLRRPQDKDAKGDKDGSLEVTGQLGEVMKESARIAYTFARAFLMQHAPANDYLVTSHI    771 - 840
HLHVPEGATPKDGPSAGCTIVTALLSLAMGRPVRQNLAMTGEVSLTGKILPVGGIKEKTIAAKRAGVTCI    841 - 910
VLPAENKKDFYDLAAFITEGLEVHFVEHYREIFDIAFPDEQAEALAVER                         911 - 959
//

Text Mined References (60)

PMID Year Title