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 90
Absent tendon reflex 90
Acquired scoliosis 274
Agenesis of corpus callosum 79
Aqueductal Stenosis 5
Autosomal recessive predisposition 1407
Axonal degeneration/regeneration 7
Axonal neuropathy 27
Bipolar Disorder 646
Blepharoptosis 229
Brachycephaly 86
Broad cranium shape 86
Broad flat nasal bridge 232
Byzanthine arch palate 194
Cerebrospinal fluid protein increased above normal 14
Cognitive delay 596
Contracture 95
Contracture of joint 92
Curvature of spine 275
Decreased motor NCV 22
Decreased projection of maxilla 65
Decreased sensory nerve conduction velocities (NCV) 8
Deficiency of upper jaw bones 65
Dilated ventricles (finding) 119
Dull intelligence 634
EMG: chronic denervation signs 4
Electroencephalogram abnormal 100
Epilepsy 775
Facial asymmetry 31
Facial diplegia 10
Flexion contracture 92
Flexion contractures of joints 92
Generalized hypotonia 37
Global developmental delay 596
Hemiplegia and hemiparesis 33
Hypoplasia of the maxilla 65
Hypotrophic maxilla 65
Intellectual disability 998
Large auricle 85
Large dysplastic ears 85
Large pinnae 85
Large prominent ears 85
Large protruding ears 85
Large, floppy ears 85
Long face 71
Low anterior hairline 30
Low intelligence 634
Macrotia 85
Maxillary retrognathia 65
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Motor delay 144
Muscle weakness of limb 21
Narrow forehead 34
Nasal bridge wide 232
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 136
Neurogenic muscle atrophy, especially in the lower limbs 136
No development of motor milestones 144
Onion bulb formation 18
Orbital separation excessive 240
Peripheral Neuropathy 131
Peripheral axonal neuropathy 18
Peripheral motor neuropathy 4
Polyneuropathy 63
Polyneuropathy, Motor 4
Poor school performance 634
Progressive disorder 139
Psychotic Disorders 150
Reflex, Deep Tendon, Absent 90
Respiratory Tract Infections 6
Restrictive respiratory syndrome 3
Retrusion of upper jaw bones 65
Seizures 584
Sensory neuropathy 20
Short nose 127
Simple syndactyly of toes, first web space 22
Skeletal muscle atrophy 136
Small head 366
Small nose 127
Tapering fingers (finding) 24
Tremor, Limb 2
Wide skull shape 86
muscle degeneration 136
Disease Target Count P-value
ovarian cancer 8297 1.2e-08
malignant mesothelioma 3135 1.4e-05
osteosarcoma 7766 7.2e-03
esophageal adenocarcinoma 696 2.0e-02
spina bifida 1053 3.1e-02
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.0
Kidney cancer 2548 0.0 0.5
Disease Target Count Z-score Confidence
Neuropathy 254 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