Property Summary

NCBI Gene PubMed Count 34
PubMed Score 58.40
PubTator Score 39.03

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Agenesis of corpus callosum 83
Aqueductal Stenosis 5
Autosomal recessive predisposition 1442
Axonal degeneration/regeneration 7
Axonal neuropathy 27
Bipolar Disorder 666
Blepharoptosis 231
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cerebrospinal fluid protein increased above normal 14
Cognitive delay 608
Contracture 96
Contracture of joint 93
Curvature of spine 282
Decreased motor NCV 22
Decreased projection of maxilla 66
Decreased sensory nerve conduction velocities (NCV) 8
Deficiency of upper jaw bones 66
Dilated ventricles (finding) 121
Dull intelligence 645
EMG: chronic denervation signs 4
Electroencephalogram abnormal 101
Epilepsy 792
Facial asymmetry 32
Facial diplegia 10
Flexion contracture 93
Flexion contractures of joints 93
Generalized hypotonia 37
Global developmental delay 608
Hemiplegia and hemiparesis 38
Hypoplasia of the maxilla 66
Hypotrophic maxilla 66
Intellectual disability 1016
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long face 71
Low anterior hairline 30
Low intelligence 645
Macrotia 87
Maxillary retrognathia 66
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Motor delay 147
Muscle weakness of limb 21
Narrow forehead 34
Nasal bridge wide 236
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Onion bulb formation 19
Orbital separation excessive 244
Peripheral Neuropathy 134
Peripheral axonal neuropathy 18
Peripheral motor neuropathy 4
Polyneuropathy 64
Polyneuropathy, Motor 4
Poor school performance 645
Progressive disorder 142
Psychotic Disorders 151
Reflex, Deep Tendon, Absent 92
Respiratory Tract Infections 7
Restrictive respiratory syndrome 3
Retrusion of upper jaw bones 66
Seizures 596
Sensory neuropathy 20
Short nose 132
Simple syndactyly of toes, first web space 23
Skeletal muscle atrophy 139
Small head 374
Small nose 132
Tapering fingers (finding) 25
Tremor, Limb 2
Wide skull shape 88
muscle degeneration 139
Disease Target Count P-value
ovarian cancer 8520 1.2e-08
malignant mesothelioma 3232 1.4e-05
osteosarcoma 7950 7.2e-03
esophageal adenocarcinoma 737 2.0e-02
spina bifida 1074 3.1e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Neuropathy 261 4.52 2.3

Expression

  Differential Expression (5)

Disease log2 FC p
esophageal adenocarcinoma -1.100 2.0e-02
malignant mesothelioma -1.500 1.4e-05
osteosarcoma -1.161 7.2e-03
ovarian cancer -1.400 1.2e-08
spina bifida -1.219 3.1e-02

Gene RIF (23)

AA Sequence

MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPMSEMSGATTSL      1 - 70
ATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNSNYEEGDEYFDKNLALFEEEM     71 - 140
DTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTW    141 - 210
VVGTAGVLQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAA    211 - 280
AMYILGAIEIFLVYIVPRAAIFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLAC    281 - 350
VIVSILAIYAGAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC    351 - 420
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVDITTSFTLLVG    421 - 490
IFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFGDAVKGNLV    491 - 560
VGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHSKANGEPTWALLLTAAIA    561 - 630
ELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSW    631 - 700
YYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLH    701 - 770
VKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS    771 - 840
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFPSNVEQFSEGN    841 - 910
IDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDLATFLYHLRIEAEVEVVEMHD    911 - 980
SDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKDRNSMLRLTSIGSDEDEETETYQEKVHMTWT    981 - 1050
KDKYMASRGQKAKSMEGFQDLLNMRPDQSNVRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDEN   1051 - 1120
YMEFLEVLTEGLERVLLVRGGGSEVITIYS                                           1121 - 1150
//

Text Mined References (40)

PMID Year Title