Property Summary

NCBI Gene PubMed Count 60
PubMed Score 84.64
PubTator Score 72.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Polydactyly 107
Cleft Palate 271
Porencephaly 20
Abnormal color vision 31
Abnormal cortical gyration 5
Abnormality of oral frenula 7
Abnormality of retinal pigmentation 111
Abnormality of the retinal vasculature 59
Abnormality of the rib cage 12
Agenesis of corpus callosum 83
Alopecia 115
Anodontia of Permanent Dentition 6
Anteverted nostril 191
Arachnoid Cysts 5
Atypical scarring of skin 62
Bifid tongue 3
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Blind Vision 111
Blindness, Legal 110
Brachydactyly 156
Broad alveolar processes of jaw 3
Broad alveolar ridges 3
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cataract 297
Cerebellar Ataxia 304
Cerebellar abnormalities 4
Cerebellar signs 4
Ciliary Motility Disorders 38
Cleft tongue 3
Coarse facial features 108
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Cone-shaped epiphyses 24
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital anomaly of testis 52
Congenital clinodactyly 57
Congenital clubfoot 109
Congenital deafness 185
Congenital heart disease 93
Congenital hypoplasia of penis 176
Curvature of digit 57
Curvature of little finger 110
Deafness 198
Decreased bone mineral density Z score 31
Deep philtrum 21
Defective enamel matrix 35
Dental Enamel Hypoplasia 43
Dental caries 164
Depressed philtrum 21
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysplasia of tooth enamel 35
Electroretinogram abnormal 95
Epilepsy 792
Excess nuchal skin 30
Facial asymmetry 32
Facial capillary hemangioma 2
Feeding difficulties in infancy 175
Fibrosis, Liver 32
Frontal bossing 157
Glaucoma 239
Growth delay 114
Growth failure 114
Growth retardation 115
Hamartoma of tongue 4
Hearing Loss, Partial 185
Hernia, Inguinal 89
Hip Dislocation, Congenital 48
Hydrocephalus 152
Hyperactive deep tendon reflexes 4
Hyperinsulinism 133
Hypertensive disease 292
Hypertrophied alveolar ridge 2
Hypodontia 81
Hypogonadism 173
Hypoplastic finger 17
Hypoplastic toes 29
Hypothalamic hamartomas 4
Increase in blood pressure 119
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
JOUBERT SYNDROME 10 (disorder) 1
Kartagener Syndrome 38
Keratoconus 113
Lens Opacities 231
Liver cyst 4
Lobulated tongue 4
Long narrow head 75
Low intelligence 645
Low set ears 181
Macrostomia 72
Median cleft lip 7
Mental Retardation 645
Mental deficiency 645
Micronychia (disorder) 24
Microretrognathia 13
Milium Cyst 16
Molar tooth sign on MRI 12
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Neuronal heterotopia 3
Night blindness, progressive 51
Nystagmus 317
OROFACIODIGITAL SYNDROME VI 8
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Orbital separation excessive 244
Orofaciodigital Syndrome I 1
Ovarian Cysts 41
POLYDACTYLY, POSTAXIAL 13
Photodysphoria 121
Photophobia 121
Pneumonia 174
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Polydactyly of toes 12
Poor growth 114
Poor school performance 645
Posteriorly rotated ear 61
Prenatal onset 139
Progressive mental retardation 37
Proteinuria 144
Radially deviated fingers 38
Recurrent infections 48
Recurrent respiratory infections 141
Recurrent upper respiratory tract infection 21
Retinal pigment epithelial abnormality 111
Rotting teeth 73
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 1
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Short finger 17
Short neck 140
Short nose 132
Short stature 531
Single transverse palmar crease 29
Small head 374
Small nose 132
Spade-like hand 16
Sparse hair 59
Syndactyly 88
Syndactyly of fingers 48
Tapering fingers (finding) 25
Telecanthus 62
Thick alveolar ridges 2
Thickened facial skin with coarse facial features 108
Thin dental enamel 35
Thin hypoplastic alae nasi 51
Thin upper lip vermilion 67
Thin, sparse hair 59
Toe abnormalities 4
Tongue nodules 3
Tooth absent 6
Tooth, Supernumerary 7
Turridolichocephaly 75
U-Shaped upper lip vermilion 2
Uranostaphyloschisis 167
Very poor growth 114
Wide nose 35
Wide spaced nipples 46
X- linked recessive 110
X-linked dominant 57
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9

Expression

Gene RIF (26)

AA Sequence

MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLL      1 - 70
IGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFL     71 - 140
MHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQ    141 - 210
LRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETK    211 - 280
EIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNEL    281 - 350
LKYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI    351 - 420
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAE    421 - 490
KAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVADLKLQLKQTQTALENEVYCN    491 - 560
PKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVLARMVASRITNYPTAWVEGSSPDSDLEFVAN    561 - 630
TKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSE    631 - 700
QPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRM    701 - 770
PLPSPTESRHSLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM    771 - 840
GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSNLQEVLERERR    841 - 910
ELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQESADKSSKK    911 - 980
MVQEGSLVDTLQSSDKVESLTGFSHEELDDSW                                          981 - 1012
//

Text Mined References (64)

PMID Year Title