Property Summary

NCBI Gene PubMed Count 8
PubMed Score 45.15
PubTator Score 4.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Catel-Manzke Syndrome 1 0.0 0.0
Disease Target Count
Abnormality of epiphysis morphology 39
Acquired scoliosis 281
Aortic coarctation 30
Auricular malformation 41
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Bowed and upward slanting eyebrows 41
Byzanthine arch palate 194
Catel Manzke syndrome 1
Chronic otitis media 52
Chubby cheeks 50
Cleft Lip 141
Cleft Palate 271
Cognitive delay 608
Congenital Camptodactyly 40
Congenital clubfoot 109
Congenital pectus carinatum 52
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Dextraposition of aorta 3
Dextrocardia 12
Epilepsy 792
Failure to gain weight 365
Fetal Growth Retardation 189
Full cheeks 50
Global developmental delay 608
Glossoptosis 10
Hernia, Inguinal 89
Hyperphalangy of the 2nd finger 1
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint laxity 54
Joint stiffness 84
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Malar flattening 129
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Overriding aorta 3
Pectus excavatum 100
Pediatric failure to thrive 365
Posterior displacement of the tongue 10
Postnatal growth retardation 57
Puffy cheeks 50
Seizures 596
Short neck 140
Short stature 531
Simple ear 41
Single transverse palmar crease 29
Thick, flared eyebrows 41
Ulnar angulation of the index finger 5
Umbilical hernia 93
Uranostaphyloschisis 167
Ventricular Septal Defects 119
ear infection chronic 52
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 5112 4.1e-04
group 3 medulloblastoma 4104 1.1e-03
ovarian cancer 8520 1.4e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (3)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.100 4.1e-04
group 3 medulloblastoma 1.200 1.1e-03
ovarian cancer 1.100 1.4e-02

Gene RIF (3)

AA Sequence

MSAACWEEPWGLPGGFAKRVLVTGGAGFIASHMIVSLVEDYPNYMIINLDKLDYCASLKNLETISNKQNY      1 - 70
KFIQGDICDSHFVKLLFETEKIDIVLHFAAQTHVDLSFVRAFEFTYVNVYGTHVLVSAAHEARVEKFIYV     71 - 140
STDEVYGGSLDKEFDESSPKQPTNPYASSKAAAECFVQSYWEQYKFPVVITRSSNVYGPHQYPEKVIPKF    141 - 210
ISLLQHNRKCCIHGSGLQTRNFLYATDVVEAFLTVLKKGKPGEIYNIGTNFEMSVVQLAKELIQLIKETN    211 - 280
SESEMENWVDYVNDRPTNDMRYPMKSEKIHGLGWRPKVPWKEGIKKTIEWYRENFHNWKNVEKALEPFPV    281 - 350
//

Text Mined References (9)

PMID Year Title