Property Summary

NCBI Gene PubMed Count 43
PubMed Score 130.95
PubTator Score 88.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Neuropathy 261
Abnormal cortical bone morphology 22
Abnormal ocular motility 19
Abnormal vision 52
Abnormality of epiphysis morphology 39
Abnormality of metabolism/homeostasis 134
Abnormality of the ankles 5
Abnormality of the hip bone 16
Abnormality of the knee 6
Abnormality of the palate 17
Abnormality of upper lip 4
Absent reflex 92
Absent tendon reflex 92
Acral ulceration leading to autoamputation of digits 3
Acro-Osteolysis 12
Anhidrosis 23
Ankle clonus 6
Anteverted nostril 191
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Axonal neuropathy 27
Babinski Reflex 100
Biparietal narrowing 28
Brainstem atrophy 2
Cerebellar Dysmetria 56
Cerebellar degeneration 103
Cerebral atrophy 178
Chubby cheeks 50
Cognitive delay 608
Congenital Epicanthus 177
Decreased bone mineral density Z score 31
Decreased joint mobility 53
Decreased nerve conduction velocity 35
Decreased number of large and small myelinated fibers 20
Decreased projection of midface 105
Decreased sensory nerve conduction velocities (NCV) 8
Decreased tendon reflex 122
Decreased width of the skull 28
Dilated ventricles (finding) 121
Disorder of eye 27
Drowsiness 7
Dystrophic fingernails 18
Dystrophic toenail changes 12
Edema of eyelid 10
Edema of lower extremity 3
Eye Abnormalities 35
Feeding difficulties 127
Feeding difficulties in infancy 175
Foot acroosteolysis 5
Full cheeks 50
Gastroesophageal reflux disease 110
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Heartburn 78
Hereditary Motor and Sensory-Neuropathy Type II 4
Highly variable severity 157
Hydrocephalus 152
Hyperhidrosis disorder 81
Hyperhidrosis, episodic 4
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertrophy of cheeks 50
Hypogeusia 5
Hypotonia, severe 33
Hypotrophic malar bone 129
Hypotrophic midface 105
Hypsarrhythmia 25
Increased sweating 81
Infantile Spasm 4
Infantile onset 238
Infratentorial atrophy 103
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Leg edema 3
Lordosis 54
Lower limb amyotrophy 1
Lower limb spasticity 10
Macrotia 87
Malar flattening 129
Malformed pinnae 37
Mental and motor retardation 608
Midface retrusion 105
Monoparesis - leg 27
Movement Disorders 55
Muscle hypotonia 571
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Open mouth 45
Optic Atrophy 242
Painless fractures due to injury 5
Paronychia Inflammation 9
Peripheral Neuropathy 134
Peripheral axonal neuropathy 18
Peripheral edema 5
Porencephaly 20
Progressive disorder 142
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome 1
Puffy cheeks 50
Recurrent respiratory infections 141
Reflex, Deep Tendon, Absent 92
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 1
Severe mental retardation (I.Q. 20-34) 99
Short nose 132
Skeletal muscle atrophy 139
Slow progression 89
Small head 374
Small midface 105
Small nose 132
Spastic Paraplegia 42
Spastic gait 23
Sphincter disturbances 16
Structure of wormian bone 24
Sweating 81
Tapering fingers (finding) 25
Variable expressivity 157
Weakness of lower limb 27
muscle degeneration 139

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma -1.300 3.0e-02
Astrocytoma, Pilocytic -1.800 1.5e-04
atypical teratoid / rhabdoid tumor -1.800 2.8e-04
ependymoma -1.600 2.2e-02
glioblastoma -1.900 1.3e-04
group 3 medulloblastoma -2.600 1.2e-03
intraductal papillary-mucinous adenoma (... -1.900 3.1e-05
intraductal papillary-mucinous carcinoma... -2.100 2.3e-05
intraductal papillary-mucinous neoplasm ... -1.800 1.8e-03
lung cancer 2.200 3.8e-04
lung carcinoma 4.300 1.3e-69
malignant mesothelioma 7.100 9.5e-10
medulloblastoma, large-cell -1.700 1.8e-04
osteosarcoma 1.461 3.9e-03
ovarian cancer 1.100 6.0e-03

Gene RIF (21)

AA Sequence

MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQ      1 - 70
KQVYRDIGEEMLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSY     71 - 140
SVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGNKARTVAATNM    141 - 210
NETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGK    211 - 280
VISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADR    281 - 350
AKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSL    351 - 420
HERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKK    421 - 490
TPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPC    491 - 560
EGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQ    561 - 630
GIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWT    631 - 700
ERECELALWAFRKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPE    701 - 770
AAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPF    771 - 840
YDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYGSGVRQSGTAK    841 - 910
ISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSEK    911 - 980
AALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFY    981 - 1050
HVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLST   1051 - 1120
LTRPCPGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIR   1121 - 1190
WKEVRELVVGRIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPY   1191 - 1260
REKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNRVTGVYELSLC   1261 - 1330
HVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLREK   1331 - 1400
LETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSPLEAPNERQRELAVKCLRLLTHTFNREYTHS   1401 - 1470
HVCVSASESKLSEMSVTLLRDPSMSPLGVATLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPE   1471 - 1540
ADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVRRPYAYMYNSD   1541 - 1610
KDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKL   1611 - 1680
SRRRSAQMRV                                                               1681 - 1690
//

Text Mined References (45)

PMID Year Title