Property Summary

NCBI Gene PubMed Count 49
PubMed Score 367.04
PubTator Score 120.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Aspartylglucosaminuria 4 8.749 4.0
Disease Target Count
Intellectual disability 1016
Abnormal cortical bone morphology 22
Abnormality of metabolism/homeostasis 134
Abnormality of the ulna 10
Acne 52
Acquired scoliosis 281
Amino acid level abnormal 2
Anterior beaking of lumbar vertebrae 4
Anteverted nostril 191
Aspartylglucosamidase (AGA) deficiency 1
Autosomal recessive predisposition 1442
Beaked vertebral bodies 9
Brachycephaly 88
Broad cranium shape 88
Broad face 7
Broad flat nasal bridge 236
Cataract 297
Cerebral atrophy 178
Class III malocclusion 78
Coarse facial features 108
Concave bridge of nose 195
Congenital pectus carinatum 52
Congenital small ears 48
Curvature of spine 282
Decreased pneumatization of frontal sinus 6
Degenerative brain disorder 100
Delayed bone age 136
Delayed speech and language development 112
Dental caries 164
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Diarrhea 253
Dull intelligence 645
Dyskinetic syndrome 16
Epilepsy 792
Fabry disease 11
Full lower lip 64
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Hepatomegaly 285
Hernia 9
Hoarseness 31
Hyperkyphosis 111
Hypertrophy of lower jaw 78
Hypoplastic frontal sinuses 6
Hypotrophic frontal sinus 6
Increased size of mandible 78
Increased thickness of cranium 17
Joint laxity 54
Kyphosis deformity of spine 114
Language Delay 112
Large face 7
Lens Opacities 231
Loss of developmental milestones 95
Low intelligence 645
Macroglossia 65
Macroorchidism 7
Macrostomia 72
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Muscle Spasticity 195
Muscle hypotonia 571
Nasal bridge wide 236
Neurodevelopmental regression 95
Neutrophil count decreased 47
Orbital separation excessive 244
Pathological fracture 20
Pfaundler-Hurler Syndrome 12
Platyspondyly 56
Poor school performance 645
Prominent lower lip 64
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Recurrent respiratory infections 141
Rotting teeth 73
Schizophrenia 1160
Seizures 596
Short nose 132
Short stature 531
Small head 374
Small nose 132
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Spondylolisthesis 22
Spondylolysis 14
Supratentorial atrophy 94
Thick vermilion border 25
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Umbilical hernia 93
Vacuolated lymphocytes 8
Wedging of vertebra 9
Wide skull shape 88
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Heart conduction disease 83 0.0 0.9
Disease Target Count Z-score Confidence
Fucosidosis 10 3.431 1.7

Expression

  Differential Expression (18)

Disease log2 FC p
aldosterone-producing adenoma -1.007 1.5e-02
atypical teratoid / rhabdoid tumor 1.200 5.2e-05
ependymoma 1.600 8.0e-12
glioblastoma 1.200 2.3e-05
group 4 medulloblastoma -2.000 4.0e-05
intraductal papillary-mucinous neoplasm ... -1.800 6.6e-04
lung adenocarcinoma 1.245 3.8e-03
lung cancer 1.100 1.1e-02
malignant mesothelioma -2.500 4.3e-08
Multiple myeloma 1.326 2.9e-02
ovarian cancer -2.200 1.4e-09
pancreatic ductal adenocarcinoma liver m... -1.725 1.0e-03
pediatric high grade glioma 1.100 5.4e-04
Pick disease -1.100 4.6e-03
primitive neuroectodermal tumor 1.100 3.7e-02
progressive supranuclear palsy -1.100 2.6e-02
psoriasis -1.100 2.1e-03
subependymal giant cell astrocytoma 1.090 4.8e-02

Protein-protein Interaction (4)

Gene RIF (8)

AA Sequence

MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCD      1 - 70
GSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMG     71 - 140
FINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMV    141 - 210
VIHKTGHIAAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGE    211 - 280
DPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI        281 - 346
//

Text Mined References (53)

PMID Year Title