Property Summary

NCBI Gene PubMed Count 697
PubMed Score 1154.05
PubTator Score 1791.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Syndactyly 88
ANONYCHIA 20
Abnormality of the anus 6
Abnormality of the clitoris 3
Abnormality of the nasopharynx 9
Absence of Stensen duct 4
Absence of a tooth 6
Absent auditory canals 23
Absent external auditory canals 23
Absent eyelashes 16
Absent nipple (finding) 4
Absent scalp hair 5
Accessory nipple 11
Adenocarcinoma of lung (disorder) 60
Agenesis of parotid duct 4
Agenesis of punctum lacrimale 4
Agenesis of teeth 21
Alopecia 115
Anhidrosis 23
Anhydrotic Ectodermal Dysplasias 2
Ankyloblepharon 4
Ankyloblepharon filiforme adnatum 4
Aplasia of eyelashes 16
Aplasia/Hypoplasia involving the metacarpal bones 5
Aplasia/Hypoplasia of metatarsal bones 3
Aplasia/Hypoplasia of the phalanges of the toes 2
Aplasia/Hypoplasia of the skin 16
Aplastic/hypoplastic phalanges 3
Atresia of nasolacrimal duct 4
Atresia of the external auditory canal 23
Atretic auditory canal 23
Atrophic condition of skin 25
Bladder Diverticulum 15
Blepharitis 23
Blepharophimosis 70
Blepharoptosis 231
Blonde hair 7
Broad flat nasal bridge 236
Bunion 26
Bushy eyebrows 49
Cellulitis of eyelid 17
Central Diabetes Insipidus 5
Choanal Atresia 42
Claw hand 26
Cleft lip and alveolus 4
Cleft palate with cleft lip 23
Cleft uvula 27
Coarse hair 31
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Camptodactyly 40
Congenital Foot Deformity 4
Congenital Hand Deformities 8
Congenital absence of kidney 31
Congenital deafness 185
Congenital hypoplasia of breast 25
Congenital hypoplasia of penis 176
Congenital neurologic anomalies 20
Congenital small ears 48
Conjunctivitis 53
Conjunctivitis, recurrent 37
Contracture of joint of hand 30
Corneal erosion 16
Cryptorchidism 296
Dacryocystitis 11
Deafness 198
Decreased number of sweat glands 1
Decreased projection of maxilla 66
Decreased size of teeth 62
Decreased width of tooth 59
Defective tooth enamel 31
Deficiency of upper jaw bones 66
Dental abnormalities 60
Dental caries 164
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed nasal tip 11
Dilatation of ureter 15
Dry skin 75
Duplicated collecting system 7
Dysplastic toenails 3
Dystrophia unguium 53
Dystrophic fingernails 18
Dystrophic toenail changes 12
Dystrophic tooth enamel 31
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 1
Ectodermal Dysplasia 14
Ectrodactyly 7
Eczema 45
Enamel abnormalities 31
Epispadias, male (disorder) 4
Failure of development of eyelashes 16
Fair hair 7
Fine hair 42
Fingernail dysplasia 6
Fingerprints, Absence of 4
Freckles 33
Generalized hyperpigmentation 22
Generalized hypopigmentation 12
Hallux Valgus 26
Hearing Loss, Partial 185
Hernia, Inguinal 89
High forehead 102
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydronephrosis 89
Hyperconvex fingernails 7
Hyperkeratosis 50
Hyperpigmentation 37
Hypodontia 81
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypohidrosis 34
Hypoplasia of nipple 16
Hypoplasia of the maxilla 66
Hypoplastic mandible condyle 275
Hypotrichosis 47
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Isolated somatotropin deficiency 30
Keratitis 62
Lacrimal Duct Obstruction 16
Lacrimal Puncta, Absence of 4
Lacrimation abnormality 4
Large elongated pulp chamber 14
Loss of scalp hair 5
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Melanocytic nevus 43
Microdontia (disorder) 59
Micrognathism 275
Micronychia (disorder) 24
Microstomia 78
Missing more than six teeth 22
Nail dysplasia 52
Narrow nose 20
Nasal bridge wide 236
Neoplastic Cell Transformation 89
Non-midline cleft lip 6
Noncancerous mole 28
Obstruction of nasolacrimal duct 9
Oligodactyly 6
Oligodontia 24
Onychogryposis 13
Oral cleft 18
Oval face 5
Overcurvature of nail 6
Palmoplantar keratosis 74
Pancreatic Neoplasm 85
Patchy alopecia 5
Patent ductus arteriosus 90
Peg-shaped teeth 8
Penile hypospadias 106
Phenotypic variability 150
Photodysphoria 121
Photophobia 121
Photosensitivity of skin 51
Pili canaliculi 4
Pitting of nails 6
Pointed teeth 8
Premature loss of secondary teeth 2
Progressive alopecia 1
RENAL ADYSPLASIA 25
Recurrent otitis media 42
Recurrent urinary tract infection 24
Reduced number of teeth 21
Renal dysplasia 28
Renal hypoplasia/aplasia 7
Retrusion of upper jaw bones 66
Rotting teeth 73
Rough hair texture 31
Rudiger syndrome 1 1
Selective tooth agenesis 6
Short stature 531
Simple syndactyly of toes, first web space 23
Skin Ulcer 48
Slow-growing hair 19
Small labia majora 16
Small, conical teeth 1
Small, peg shaped teeth 1
Small, pointed teeth 1
Sparse axillary hair 28
Sparse body hair 32
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Sparse pubic hair 31
Sparse scalp hair 42
Split foot 3
Squamous Cell Neoplasms 3
Squamous cell carcinoma 129
Submucous cleft of hard palate 11
Submucous cleft soft palate 2
Submucous clefting 9
Syndactyly of fingers 48
Syndactyly of the toes 45
Tall forehead 102
Taurodontism 14
Thin hypoplastic alae nasi 51
Thin skin 47
Thin, sparse hair 59
Tooth Abnormalities 69
Transverse vaginal septum 2
Triphalangeal thumb 9
Umbilical hernia 93
Uranostaphyloschisis 167
Ureterocele 14
Urethral atresia 4
Uroureter 15
Velopharyngeal Insufficiency 8
Velopharyngeal dysfunction 8
Ventricular Septal Defects 119
Vesico-Ureteral Reflux 33
Wide spaced nipples 46
Widely spaced teeth 31
Xerosis 75
Xerostomia 42
blue iris (physical finding) 17
hearing impairment 199
ovarian neoplasm 99
Disease Target Count Z-score Confidence
Kidney cancer 2613 0.0 0.5
Melanoma 711 0.0 0.6
Skin cancer 469 0.0 0.7
Disease Target Count Z-score Confidence
Adenocarcinoma 122 0.0 3.0
Lymphoid leukemia 160 0.0 3.0
lung cancer 4740 0.0 3.0

Expression

  Differential Expression (17)

Disease log2 FC p
acute quadriplegic myopathy 2.272 2.3e-08
adult high grade glioma 1.500 1.6e-03
Amyotrophic lateral sclerosis 1.113 1.8e-05
atypical teratoid / rhabdoid tumor 1.300 3.9e-03
autosomal dominant Emery-Dreifuss muscul... 1.002 9.4e-03
Breast cancer -1.100 6.4e-40
breast carcinoma -2.100 2.0e-03
dermatomyositis 1.100 2.3e-03
esophageal adenocarcinoma -2.900 2.0e-02
glioblastoma 1.100 1.4e-02
interstitial cystitis -1.500 9.0e-03
juvenile dermatomyositis 1.028 1.2e-07
medulloblastoma, large-cell 1.700 8.8e-06
non-small cell lung cancer 1.340 1.9e-09
osteosarcoma 1.226 2.8e-05
ovarian cancer 1.100 4.7e-11
psoriasis 1.500 6.5e-04

Protein-protein Interaction (7)

Gene RIF (638)

AA Sequence

MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQ      1 - 70
PIDLNFVDEPSEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQ     71 - 140
NSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCP    141 - 210
IQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPI    211 - 280
TGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRCFEARICACPGR    281 - 350
DRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKES    351 - 420
LELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNAL    421 - 490
TPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSS    491 - 560
CLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGS    561 - 630
SETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE                        631 - 680
//

Text Mined References (701)

PMID Year Title