Property Summary

NCBI Gene PubMed Count 33
PubMed Score 231.83
PubTator Score 34.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormality of blood and blood-forming tissues 10
Abnormality of the haematopoietic system 10
Abnormality of the scapula 3
Absent bone maturation in sternum 4
Absent nipple (finding) 4
Absent reflex 92
Absent sternal ossification 4
Absent tendon reflex 92
Absent/hypoplastic nails 2
Agenesis of corpus callosum 83
Aggressive behavior 75
Aggressive reaction 75
Ankle contracture 9
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Aplastic clavicles 6
Aplastic/hypoplastic halluces 1
Arhinencephaly 5
Autosomal recessive predisposition 1442
Axonal loss 7
Broad secondary alveolar ridge 3
Cardiomyopathies 110
Cataract 297
Complex partial seizure with impairment of consciousness 9
Complex partial seizures 9
Congenital anomaly of neck 19
Congenital deafness 185
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of penis 176
Cryptorchidism 296
Deafness 198
Decreased calcification of skull 10
Decreased nerve conduction velocity 35
Decreased tendon reflex 122
Defect of skull ossification 10
Deformity of neck 19
Depressive disorder 409
Dilated ventricles (finding) 121
Distal arthrogryposis syndrome 8
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Dyspnea 76
Exophthalmos 112
Fatigable weakness of respiratory muscles 28
Fatigable weakness of swallowing muscles 28
Fatigue 182
Fetal Growth Retardation 189
Flattening of facial bones 4
Frequent falls 12
Gait abnormality 135
Generalized muscle weakness 57
Global developmental delay, severe 47
Hallucinations, Visual 6
Hearing Loss, Partial 185
Hematological Disease 18
Highly variable severity 157
Hydrops Fetalis 21
Hypoplastic facial bones 4
Hypoplastic finger 17
Hypoplastic lobules 11
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Hypoplastic/aplastic distal phalanges 3
Hypotrophic facial bones 4
Idiopathic pulmonary arterial hypertension 40
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Lens Opacities 231
Long narrow head 75
Low set ears 181
Malformation of the neck 19
Mandibular hypoplasia 275
Micrognathism 275
Mood swings 77
Muscle Cramp 55
Muscle Spasticity 195
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Onion bulb formation 19
Orbital separation excessive 244
Pachygyria 41
Pain 103
Paralysed 42
Penile hypospadias 106
Peripheral hypomyelination 7
Physical aggression 76
Polyhydramnios 108
Polymicrogyria 48
Precocious exfoliation of primary tooth 11
Premature Birth 77
Premature birth of newborn 67
Progressive disorder 142
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Pulmonary hypertension 86
Pyloric Stenosis 47
Pyramidal tract syndrome 2
Reflex, Deep Tendon, Absent 92
Respiratory Failure 104
Sclerocornea 29
Severe failure to thrive 4
Severe psychomotor retardation 47
Short finger 17
Short philtrum 53
Short to absent middle phalanges 5
Short upper lip 7
Single transverse palmar crease 29
Skeletal muscle atrophy 139
Small facial bones 4
Small head 374
Sparse eyebrow 42
Sparse eyelashes 31
Sparse scalp hair 42
Status Epilepticus 98
Syndactyly of the toes 45
Tapered toe 2
Tapering fingers (finding) 25
Tetralogy of Fallot 67
Thin lips 49
Thumb aplasia 16
Turridolichocephaly 75
Underdevelopment of facial bones 4
Upper motor neuron dysfunction 2
Upward slant of palpebral fissure 75
Variable expressivity 157
Ventricular Septal Defects 119
Wide bregma sutures 46
Xerostomia 42
hearing impairment 199
muscle degeneration 139
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Hemolytic anemia 77 0.0 0.8
Disease Target Count Z-score Confidence
Neuropathy 261 4.38 2.2
Neurodegenerative disease 414 0.0 4.0
Disease Target Count Z-score Confidence
Yunis-Varon syndrome 6 6.478 3.2

Expression

  Differential Expression (8)

Disease log2 FC p
glioblastoma -1.400 3.0e-05
malignant mesothelioma -1.400 1.0e-06
medulloblastoma, large-cell -1.600 9.4e-05
non-small cell lung cancer -1.230 6.5e-20
osteosarcoma -1.900 1.6e-04
ovarian cancer 1.100 6.7e-04
pediatric high grade glioma -1.200 2.3e-06
tuberculosis 2.100 3.2e-07

Protein-protein Interaction (3)

Gene RIF (18)

AA Sequence

MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQQEVRELLGRL      1 - 70
DLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIGGHAIYKVEDTNMIYIPNDSV     71 - 140
RVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLTVLRMPLEMLKSEMTQNRQESFDIFEDEGLI    141 - 210
TQGGSGVFGICSEPYMKYVWNGELLDIIKSTVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFA    211 - 280
GTRFLKRGANCEGDVANEVETEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQA    281 - 350
DPFAHVAALHFDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAK    351 - 420
YTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTGILRTNCVDCL    421 - 490
DRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDTLSLQYGGSQLVHRVKTYRKI    491 - 560
APWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHPTEGKPHLWELPTDFYLHHKNTMRLLPTRRS    561 - 630
YTYWWTPEVIKHLPLPYDEVICAVNLKKLIVKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARD    631 - 700
FMPKTVGIDPSPFTVRKPDETGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEG    701 - 770
SVSQRSTPVKMTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCS    771 - 840
RCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYREYIRNRYL       841 - 907
//

Text Mined References (30)

PMID Year Title