Property Summary

NCBI Gene PubMed Count 70
PubMed Score 291.51
PubTator Score 206.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Mucopolysaccharidosis I 4 0.0 5.0
Disease Target Count
Umbilical hernia 93
Abnormal CNS myelination 4
Abnormal diaphysis morphology 5
Abnormal nerve conduction velocity 4
Abnormal skeletal development 60
Abnormal vertebral bodies 16
Abnormality of epiphysis morphology 39
Abnormality of the clavicle 14
Abnormality of the elbow 6
Abnormality of the ribs 32
Abnormality of the tonsils 10
Acquired scoliosis 281
Anteverted nostril 191
Aortic Valve Insufficiency 40
Aortic valve stenosis 28
Autosomal recessive predisposition 1442
Biconcave vertebral bodies 9
Big calvaria 147
Broad face 7
Broad flat nasal bridge 236
Broad nasal tip 28
Bushy eyebrows 49
Calvarial hyperostosis 5
Cardiomyopathies 110
Cerebral palsy 40
Chronic diarrhea 29
Chubby cheeks 50
Class III malocclusion 78
Clouding of corneal stroma 50
Cloudy cornea 33
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital anomaly of spine 16
Congenital deafness 185
Congenital hypoplasia of clavicle 18
Congenital pes cavus 88
Contracture 96
Contracture of joint 93
Corneal Opacity 53
Corneal stromal opacities 33
Coxa valga 22
Coxa valga deformity 22
Curvature of spine 282
Deafness 198
Death in early childhood 82
Death in infancy 82
Decreased joint mobility 53
Decreased size of teeth 62
Decreased width of tooth 59
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Diaphyseal thickening 11
Dull intelligence 645
Enlargement of calvarial bones 5
Everted lower lip vermilion 54
Feeding difficulties 127
Flared iliac wings 13
Flexion contracture 93
Flexion contracture of proximal interphalangeal joint 75
Flexion contractures of joints 93
Frontal bossing 157
Full cheeks 50
Generalized hirsutism 36
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Glaucoma 239
Global developmental delay 608
Hearing Loss, Partial 185
Heart valve disease 39
Hepatomegaly 285
Hepatosplenomegaly 22
Hernia 9
Hernia, Inguinal 89
Hirsutism 47
Hydrocephalus 152
Hyperkyphosis 111
Hyperplasia of cheeks 50
Hypertensive disease 292
Hypertrophy of cheeks 50
Hypertrophy of lower jaw 78
Hypoplastic mandible condyle 275
Idiopathic pulmonary arterial hypertension 40
Increase in blood pressure 119
Increased head circumference 147
Increased ossification of calvarial bones 5
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Intellectual disability 1016
J-shaped hypophysial fossa 6
J-shaped sella turcica 6
Joint stiffness 84
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Large face 7
Long narrow head 75
Low intelligence 645
Macroglossia 65
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Mucopolysaccharidosis V 1
Mucopolysacchariduria 3
Multiple vertebral anomalies 16
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow pelvis 6
Narrow skull shape 75
Nasal bridge wide 236
Nasal inflammation 7
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
ODONTOID HYPOPLASIA 16
Omega shaped hypophysial fossa 6
Osteochondrodysplasias 72
Pfaundler-Hurler Syndrome 12
Poor school performance 645
Progressive neurologic deterioration 19
Protruding lower lip 54
Puffy cheeks 50
Pulmonary hypertension 85
Pyramidal sign 29
Recurrent respiratory infections 141
Retinal Diseases 55
Rhinitis 54
Sensorineural Hearing Loss (disorder) 284
Short neck 140
Short stature 531
Sleep Apnea, Obstructive 10
Sleep disturbances 37
Small femoral heads 2
Spinal canal stenosis 12
Splenomegaly 190
Thick vermilion border 25
Thickened facial skin with coarse facial features 108
Tracheal stenosis 23
Turridolichocephaly 75
Urinary glycosaminoglycan excretion 2
VALVULAR ABNORMALITY 12
Wide nose 35
hearing impairment 199
mandibular excess (physical finding) 78
pulmonary arterial hypertension 75
Disease Target Count P-value
malignant mesothelioma 3232 2.6e-05
Multiple myeloma 1332 4.4e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Osteoporosis 363 0.0 3.0
Disease Target Count Z-score Confidence
Mucopolysaccharidosis 26 8.17 4.0

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -1.300 2.6e-05
Multiple myeloma 1.014 4.4e-02

 GWAS Trait (1)

PDB (10)

Gene RIF (31)

AA Sequence

MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQ      1 - 70
QLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHF     71 - 140
TDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLR    141 - 210
AASPALRLGGPGDSFHTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVA    211 - 280
QQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDN    281 - 350
AFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGV    351 - 420
LASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRL    421 - 490
GRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLT    491 - 560
QGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPG    561 - 630
PFSDPVPYLEVPVPRGPPSPGNP                                                   631 - 653
//

Text Mined References (72)

PMID Year Title