Property Summary

NCBI Gene PubMed Count 86
PubMed Score 272.81
PubTator Score 128.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal behavior 52
Abnormal helices 11
Abnormal skeletal development 60
Abnormal urinary amino-acid findings 38
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Abnormality of the liver 21
Abnormality of the mitochondrion 3
Abnormality of the palate 17
Absent reflex 92
Absent tendon reflex 92
Acquired cubitus valgus 18
Acrocephaly 12
Addison Disease 18
Adrenal cortical hypofunction 23
Adrenal gland hypofunction 9
Adrenoleukodystrophy, Neonatal 13
Aminoaciduria 38
Anteverted nostril 191
Apnea 45
Asthma 385
Autosomal recessive predisposition 1442
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Broad flat nasal bridge 236
Broad-based gait 19
Brushfield spots 4
Byzanthine arch palate 194
Cataract 297
Cerebellar Ataxia 304
Chorioretinal abnormality 21
Cleft Palate 271
Clouding of corneal stroma 50
Cloudy cornea 33
Cognitive delay 608
Concave bridge of nose 195
Congenital Bilateral Cataracts 50
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital anomaly of face 56
Congenital cataract 50
Congenital clubfoot 109
Congenital heart disease 93
Congenital hypoplasia of thymus 15
Congenital pes cavus 88
Contracture of joint of hand 30
Corneal Opacity 53
Corneal stromal opacities 33
Cryptorchidism 296
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Distortion of face 46
Dull intelligence 645
Dysmorphic facies 46
Edema of eyelid 10
Electroencephalogram abnormal 101
Elevated levels of phytanic acid 15
Elevated long chain fatty acids 4
Embryotoxon 28
Epilepsy 792
Esotropia 31
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flat back of the head 26
Flat face 52
Flat occiput 26
Frontal bossing 157
Funny looking face 46
Generalized amyotrophy 20
Global developmental delay 608
Global developmental delay, severe 47
Hepatomegaly 285
High forehead 102
Hip joint varus deformity - observation 24
Hydronephrosis 89
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypoplastic mandible condyle 275
Hypotonia, severe 33
Icterus 82
Impaired cognition 96
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Infantile Refsum Disease (disorder) 13
Intellectual disability 1016
Intrahepatic biliary dysgenesis 3
Intrauterine retardation 176
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Lens Opacities 231
Liver Failure 73
Liver diseases 87
Long narrow head 75
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Malabsorption 82
Malformations of Cortical Development, Group II 31
Malformed pinnae 37
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mental impairment 95
Metaphyseal cupping 10
Metaphyseal irregularity 23
Metatarsus Varus 24
Micrognathism 275
Mitochondrial abnormalities 3
Movement Disorders 55
Multicystic Dysplastic Kidney 52
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
Muscle weakness, progressive 22
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Neurodevelopmental regression 95
Neuropathy 261
Night Blindness 101
Nystagmus 317
Optic Atrophy 242
Optic nerve dysplasia 6
Orbital separation excessive 244
Osteochondrodysplasias 72
Pediatric failure to thrive 365
Penile hypospadias 106
Peripheral Neuropathy 134
Polar cataract 1
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Polymicrogyria 48
Poor school performance 645
Poor suck 17
Posterior embryotoxon 28
Premature Birth 77
Premature birth of newborn 67
Profound global developmental delay 17
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychomotor retardation, profound 17
Pyloric Stenosis 47
Reactive airway disease 21
Reflex, Deep Tendon, Absent 92
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short femoral neck 15
Short stature 531
Single transverse palmar crease 29
Sinus Tachycardia 4
Small head 374
Small thymus 13
Speckled iris 4
Stippled chondral calcification 2
Stippled epiphyses 28
Strabismus 270
Tall forehead 102
Thoracic scoliosis 4
Toeing-in 24
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Underweight 17
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Vertical Nystagmus 1
Very long chain fatty acid accumulation 13
Visual Impairment 174
Visual field constriction 36
Weight decreased 103
Weight less than 3rd percentile 17
Wide anterior fontanel 44
Wide bregma sutures 46
facial deformity 46
Disease Target Count P-value
diabetes mellitus 1728 2.6e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0
Rhizomelic chondrodysplasia punctata 11 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
diabetes mellitus -1.100 2.6e-03

Gene RIF (37)

AA Sequence

MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASEDELVAEFLQDQ      1 - 70
NAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETDW     71 - 140
SQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKL    141 - 210
ANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSA    211 - 280
IESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGD    281 - 350
LPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQR    351 - 420
QACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDV    421 - 490
QCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRY    491 - 560
NLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARDLST    561 - 630
LLTMFGLPQ                                                                 631 - 639
//

Text Mined References (89)

PMID Year Title