Property Summary

NCBI Gene PubMed Count 51
PubMed Score 125.79
PubTator Score 102.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal trabecular bone morphology 6
Abnormal urinary amino-acid findings 38
Abnormality of the fingertips 2
Absence of eyebrows 31
Absence of pubertal development 17
Absent eyelashes 16
Acro-osteolysis of distal phalanges 4
Acroosteolysis of distal phalanges (feet) 2
Adrenal hypoplasia 12
Alopecia 115
Aminoaciduria 38
Angina Pectoris 32
Aplasia of eyelashes 16
Aplasia/Hypoplasia of the clavicles 2
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Aplastic clavicles 6
Arteriosclerosis of small cerebral arteries 3
Atrial Septal Defects 85
Atrophic condition of skin 25
Auricular malformation 41
Autosomal recessive predisposition 1442
Bilateral coxa valga 3
Bipartite clavicle 5
Bird-like facies 4
Blepharophimosis 70
Brachyonychia 6
Brittle hair 25
Broad-based gait 19
Bulging forehead 66
Bullet vertebral body 17
Calcinosis 70
Choanal Atresia 42
Congenital anomaly of neck 19
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of lung 48
Contracture 96
Contracture of joint 93
Convex nasal ridge 37
Coronary artery disease, premature 6
Craniofacial disproportion 3
Cyanosis 17
Decreased adipose tissue around neck 1
Decreased testosterone in males 28
Deformity of neck 19
Degenerative polyarthritis 115
Dental abnormalities 60
Double ureter 6
Dry Eye Syndromes 8
Dystrophia unguium 53
Early tooth exfoliation 17
Entropion 22
Epidermal hyperkeratosis 3
Exophthalmos 112
Failure of development of eyelashes 16
Failure to gain weight 365
Familial generalized lipodystrophy 5
Fetal Growth Retardation 189
Fetal Membranes, Premature Rupture 5
Flattening of facial bones 4
Flexion contracture 93
Flexion contractures of joints 93
Focal glomerulosclerosis 37
Fractured hair 25
Fragile hair 25
Hardened artery wall in small cerebral arteries 3
High pitched voice 23
Hydrops of placenta 2
Hyperglycemia 137
Hyperinsulinism 133
Hyperkyphosis 111
Hyperlipidemia 43
Hypernasal voice 39
Hyperopia 70
Hyperphosphatemia (disorder) 17
Hyperpigmentation 37
Hypertensive disease 292
Hypodontia 81
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypohidrosis 34
Hypoplasia of nipple 16
Hypoplastic facial bones 4
Hypoplastic mandible condyle 275
Hypotrichosis 47
Hypotrophic facial bones 4
Impaired glucose tolerance 28
Inadequate arch length for tooth size 45
Increase in blood pressure 119
Increased anterioposterior diameter of chest 2
Increased number of platelets 14
Infant, Small for Gestational Age 176
Infertility 188
Insulin Resistance 72
Insulin resistant diabetes 13
Intermittent claudication 20
Intrauterine retardation 176
Joint stiffness 84
Keratitis sicca 6
Keratoconjunctivitis sicca 25
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Lack of skin elasticity 10
Large auricle 87
Large bregma sutures 46
Large dysplastic ears 87
Large fontanelle 46
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Large, late-closing fontanelle 46
Late fontanel closure 28
Late tooth eruption 61
Lethal tight skin contracture syndrome (disorder) 2
Lipoatrophy 19
Loss of facial adipose tissue 4
Loss of subcutaneous adipose tissue in limbs 6
Loss of truncal adipose tissue 2
Low serum estradiol levels 22
Low set ears 181
Macrotia 87
Malformation of the neck 19
Mandibular hypoplasia 275
Metaphyseal widening 22
Micrognathism 275
Microstomia 78
Mottled pigmentation 4
Nail dysplasia 52
Narrow nasal ridge 6
Nasal voice 39
Natal Teeth 9
Orbital separation excessive 244
Osteoporosis 363
Overtubulated long bones 2
Ovoid vertebral bodies 17
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Penile hypospadias 106
Pinched nasal tip 2
Polyhydramnios 108
Premature Birth 77
Premature birth of newborn 67
Premature canities 24
Premature tooth loss 17
Progressive acroosteolysis of the clavicle 3
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent scalp veins 3
Prominent superficial vasculature 3
Prothrombin time increased 7
Protruding eyes 96
Pseudoarthrosis of clavicle 5
Reduced fetal movement 51
Reduced tensile strength of hair 25
Reticular pigmentation pattern 7
Reticulate skin pigmentation 7
SERUM PHOSPHATE ELEVATED 14
Sensorineural Hearing Loss (disorder) 284
Short cord 5
Short distal phalanges 50
Short nose 132
Short palpebral fissure 38
Short phalanx of finger 32
Short stature 531
Simple ear 41
Skin Erosion 12
Small adrenal gland 12
Small facial bones 4
Small nose 132
Soft calvaria 8
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Steatohepatitis 44
Stillbirth 17
Stippled pigmentation 4
Stretched skin 10
Submucous cleft of hard palate 11
Submucous clefting 9
Tapering pointed ends of distal finger phalanges 3
Thin bony cortex 9
Thin clavicle 4
Thin lips 49
Thin nails 5
Thin rib 21
Thin skin 47
Thin, sparse hair 59
Thrombocytosis 38
Tooth Abnormalities 69
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Underdevelopment of facial bones 4
Vertical Talus 25
Wide bregma sutures 46
Widely patent fontanels and sutures 12
Wizened face 9
Xerophthalmia 16
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count
Restrictive Dermopathy, Lethal 2

Expression

  Differential Expression (5)

Disease log2 FC p
intraductal papillary-mucinous neoplasm ... 1.500 7.1e-03
Multiple myeloma 2.090 1.6e-04
ovarian cancer -1.400 3.2e-04
posterior fossa group A ependymoma 1.100 1.4e-10
Waldenstrons macroglobulinemia 1.126 1.4e-02

Gene RIF (38)

AA Sequence

MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLY      1 - 70
QLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLP     71 - 140
WSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLV    141 - 210
LVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLF    211 - 280
DTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNII    281 - 350
ISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADA    351 - 420
FAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH                   421 - 475
//

Text Mined References (53)

PMID Year Title