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 51
Abnormal helices 11
Abnormal skeletal development 60
Abnormal urinary amino-acid findings 38
Abnormality of metabolism/homeostasis 133
Abnormality of retinal pigmentation 109
Abnormality of the liver 21
Abnormality of the mitochondrion 3
Abnormality of the palate 17
Absent reflex 90
Absent tendon reflex 90
Acquired cubitus valgus 18
Acrocephaly 12
Addison Disease 18
Adrenal cortical hypofunction 23
Adrenal gland hypofunction 8
Adrenoleukodystrophy, Neonatal 13
Aminoaciduria 38
Anteverted nostril 186
Apnea 45
Asthma 370
Autosomal recessive predisposition 1407
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 229
Broad flat nasal bridge 232
Broad-based gait 19
Brushfield spots 4
Byzanthine arch palate 194
Cataract 290
Cerebellar Ataxia 302
Chorioretinal abnormality 21
Cleft Palate 265
Clouding of corneal stroma 49
Cloudy cornea 32
Cognitive delay 596
Concave bridge of nose 191
Congenital Bilateral Cataracts 49
Congenital Camptodactyly 39
Congenital Epicanthus 175
Congenital Heart Defects 57
Congenital anomaly of face 54
Congenital cataract 49
Congenital clubfoot 108
Congenital heart disease 91
Congenital hypoplasia of thymus 15
Congenital pes cavus 86
Contracture of joint of hand 30
Corneal Opacity 52
Corneal stromal opacities 32
Cryptorchidism 287
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased tendon reflex 121
Decreased to absent deep tendon reflexes 42
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Developmental regression 94
Difficulties with night vision 85
Distortion of face 44
Dull intelligence 634
Dysmorphic facies 44
Edema of eyelid 9
Electroencephalogram abnormal 100
Elevated levels of phytanic acid 15
Elevated long chain fatty acids 4
Embryotoxon 28
Epilepsy 775
Esotropia 31
Failure to gain weight 359
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Flat back of the head 26
Flat face 51
Flat occiput 26
Frontal bossing 154
Funny looking face 44
Generalized amyotrophy 20
Global developmental delay 596
Global developmental delay, severe 47
Hepatomegaly 280
High forehead 101
Hip joint varus deformity - observation 23
Hydronephrosis 87
Hyperreflexia 208
Hypertrophy of clitoris 38
Hypoplastic mandible condyle 273
Hypotonia, severe 33
Icterus 81
Impaired cognition 95
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 174
Infantile Refsum Disease (disorder) 13
Intellectual disability 998
Intrahepatic biliary dysgenesis 3
Intrauterine retardation 174
Large bregma sutures 45
Large fontanelle 45
Large, late-closing fontanelle 45
Lens Opacities 227
Liver Failure 72
Liver diseases 85
Long narrow head 75
Loss of developmental milestones 94
Low Vision 167
Low intelligence 634
Low set ears 178
Low-set, posteriorly rotated ears 109
Malabsorption 81
Malformations of Cortical Development, Group II 30
Malformed pinnae 36
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental deterioration in childhood 94
Mental impairment 95
Metaphyseal cupping 9
Metaphyseal irregularity 21
Metatarsus Varus 24
Micrognathism 273
Mitochondrial abnormalities 3
Movement Disorders 54
Multicystic Dysplastic Kidney 51
Muscle Spasticity 192
Muscle Weakness 168
Muscle hypotonia 562
Muscle weakness, progressive 22
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 232
Neurodevelopmental regression 94
Neuropathy 254
Night Blindness 99
Nystagmus 309
Optic Atrophy 239
Optic nerve dysplasia 6
Orbital separation excessive 240
Osteochondrodysplasias 72
Pediatric failure to thrive 359
Penile hypospadias 102
Peripheral Neuropathy 131
Polar cataract 1
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Polymicrogyria 48
Poor school performance 634
Poor suck 17
Posterior embryotoxon 28
Premature Birth 76
Premature birth of newborn 67
Profound global developmental delay 17
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Psychomotor retardation, profound 17
Pyloric Stenosis 47
Reactive airway disease 21
Reflex, Deep Tendon, Absent 90
Respiratory Insufficiency 130
Respiratory function loss 119
Retinal pigment epithelial abnormality 109
Retinitis Pigmentosa 223
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Severe psychomotor retardation 47
Short femoral neck 14
Short stature 514
Single transverse palmar crease 29
Sinus Tachycardia 4
Small head 366
Small thymus 13
Speckled iris 4
Stippled chondral calcification 2
Stippled epiphyses 28
Strabismus 265
Tall forehead 101
Thoracic scoliosis 4
Toeing-in 24
Turridolichocephaly 75
Underdeveloped brows 37
Underdeveloped supraorbital ridges 37
Underweight 17
Upward slant of palpebral fissure 74
Uranostaphyloschisis 162
Vertical Nystagmus 1
Very long chain fatty acid accumulation 13
Visual Impairment 167
Visual field constriction 35
Weight decreased 101
Weight less than 3rd percentile 17
Wide anterior fontanel 44
Wide bregma sutures 45
facial deformity 44
Disease Target Count P-value
diabetes mellitus 1683 2.6e-03
Disease Target Count Z-score Confidence
Carcinoma 11192 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