Property Summary

NCBI Gene PubMed Count 95
PubMed Score 80.39
PubTator Score 131.18

Knowledge Summary

Patent (9,472)

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
BRACHYDACTYLY, TYPE B1 2 0.0 0.0
Robinow syndrome, autosomal recessive 1 0.0 0.0
Disease Target Count
Brachydactyly 156
Syndactyly 88
2nd-5th toe middle phalangeal hypoplasia 2
ANONYCHIA 20
Absence of rib 7
Absent fingernails 7
Accessory kidney 5
Acquired scoliosis 281
Ankyloglossia 17
Anteverted nostril 191
Aplasia/Hypoplasia involving the metacarpal bones 5
Autosomal recessive predisposition 1442
Bifid distal phalanx of toe 3
Bifid terminal phalanges 3
Bifid tongue 3
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Brachydactyly syndrome type B 1
Broad flat nasal bridge 236
Broad hallux phalanx 8
Broad thumbs 28
Broad toes 5
Chronic otitis media 52
Cleft tongue 3
Clitoral hypoplasia 11
Cognitive delay 608
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital absence of uvula 1
Congenital clinodactyly 57
Congenital deafness 185
Congenital hemivertebra 25
Congenital hypoplasia of penis 176
Contracture of joint of hand 30
Cryptorchidism 296
Curvature of digit 57
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Decreased projection of midface 105
Defect of vertebral segmentation 17
Delayed bone age 136
Delayed eruption of permanent teeth 8
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Dull intelligence 645
Exophthalmos 112
Fingernail dysplasia 6
Flat face 52
Foot Deformities 30
Frontal bossing 157
Fused vertebrae 25
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Hearing Loss, Partial 185
Hernia, Inguinal 89
Hydronephrosis 89
Hyperkyphosis 111
Hypoplastic feet 66
Hypoplastic female external genitalia 1
Hypoplastic mandible condyle 275
Hypoplastic sacrum 2
Hypoplastic/aplastic distal phalanges 3
Hypotrophic malar bone 129
Hypotrophic midface 105
Inadequate arch length for tooth size 45
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Inverted V-shaped upper lip 19
Kyphosis deformity of spine 114
Late fontanel closure 28
Long eyelashes 37
Long palpebral fissure 17
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Macroglossia 65
Macrostomia 72
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mesomelia 8
Micrognathism 275
Midface retrusion 105
Midthoracic hemivertebrae 1
Nasal bridge wide 236
Open Bite 21
Orbital separation excessive 244
Pectus excavatum 100
Poor school performance 645
Port-Wine Stain 8
Posteriorly rotated ear 61
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Radially deviated fingers 38
Rib fusion 16
Short distal phalanges 50
Short hands 50
Short limb dwarfism, disproportionate 22
Short metacarpal 43
Short middle phalanges 12
Short middle phalanx of the 5th finger 13
Short nose 132
Short tubular bones 22
Small labia majora 16
Small midface 105
Small nose 132
Spinal fusion 25
Tented mouth 19
Tented upper lip 19
Thin upper lip vermilion 67
Thoracic hemivertebra 1
Thoracolumbar scoliosis 4
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Triangular mouth 6
Umbilical hernia 93
Upward slant of palpebral fissure 75
Ventricular Outflow Obstruction, Right 3
Ventricular Septal Defects 119
Vertebral body fusion 25
Wide anterior fontanel 44
ear infection chronic 52
hearing impairment 199
Disease Target Count P-value
psoriasis 6694 1.1e-42
ependymoma 4679 1.7e-09
malignant mesothelioma 3232 6.3e-07
ovarian cancer 8520 2.6e-05
cystic fibrosis 1696 1.0e-03
group 3 medulloblastoma 4104 1.7e-02
Hydrolethalus syndrome 128 4.5e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 0.7
Melanoma 711 0.0 0.5
lung cancer 4740 0.0 0.7
Disease Target Count Z-score Confidence
Robinow syndrome 11 0.0 5.0
Disease Target Count Z-score Confidence
Proximal symphalangism 7 4.783 2.4
tarsal-carpal coalition syndrome 3 4.191 2.1

Expression

  Differential Expression (7)

Disease log2 FC p
cystic fibrosis -1.592 1.0e-03
ependymoma 3.500 1.7e-09
group 3 medulloblastoma 1.400 1.7e-02
Hydrolethalus syndrome -1.212 4.5e-02
malignant mesothelioma -2.000 6.3e-07
ovarian cancer -1.100 2.6e-05
psoriasis -1.100 1.1e-42

Protein-protein Interaction (1)

Gene RIF (77)

AA Sequence

MARGSALPRRPLLCIPAVWAAAALLLSVSRTSGEVEVLDPNDPLGPLDGQDGPIPTLKGYFLNFLEPVNN      1 - 70
ITIVQGQTAILHCKVAGNPPPNVRWLKNDAPVVQEPRRIIIRKTEYGSRLRIQDLDTTDTGYYQCVATNG     71 - 140
MKTITATGVLFVRLGPTHSPNHNFQDDYHEDGFCQPYRGIACARFIGNRTIYVDSLQMQGEIENRITAAF    141 - 210
TMIGTSTHLSDQCSQFAIPSFCHFVFPLCDARSRTPKPRELCRDECEVLESDLCRQEYTIARSNPLILMR    211 - 280
LQLPKCEALPMPESPDAANCMRIGIPAERLGRYHQCYNGSGMDYRGTASTTKSGHQCQPWALQHPHSHHL    281 - 350
SSTDFPELGGGHAYCRNPGGQMEGPWCFTQNKNVRMELCDVPSCSPRDSSKMGILYILVPSIAIPLVIAC    351 - 420
LFFLVCMCRNKQKASASTPQRRQLMASPSQDMEMPLINQHKQAKLKEISLSAVRFMEELGEDRFGKVYKG    421 - 490
HLFGPAPGEQTQAVAIKTLKDKAEGPLREEFRHEAMLRARLQHPNVVCLLGVVTKDQPLSMIFSYCSHGD    491 - 560
LHEFLVMRSPHSDVGSTDDDRTVKSALEPPDFVHLVAQIAAGMEYLSSHHVVHKDLATRNVLVYDKLNVK    561 - 630
ISDLGLFREVYAADYYKLLGNSLLPIRWMAPEAIMYGKFSIDSDIWSYGVVLWEVFSYGLQPYCGYSNQD    631 - 700
VVEMIRNRQVLPCPDDCPAWVYALMIECWNEFPSRRPRFKDIHSRLRAWGNLSNYNSSAQTSGASNTTQT    701 - 770
SSLSTSPVSNVSNARYVGPKQKAPPFPQPQFIPMKGQIRPMVPPPQLYVPVNGYQPVPAYGAYLPNFYPV    771 - 840
QIPMQMAPQQVPPQMVPKPSSHHSGSGSTSTGYVTTAPSNTSMADRAALLSEGADDTQNAPEDGAQSTVQ    841 - 910
EAEEEEEGSVPETELLGDCDTLQVDEAQVQLEA                                         911 - 943
//

Text Mined References (96)

PMID Year Title