Property Summary

NCBI Gene PubMed Count 19
PubMed Score 89.90
PubTator Score 23.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Congenital diaphragmatic hernia 67
Agenesis of corpus callosum 83
Amblyopia 38
Anteverted nostril 191
Anus, Imperforate 46
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Broad flat nasal bridge 236
Broad forehead 59
Byzanthine arch palate 194
Cerebral atrophy 178
Choreoathetoid movements 32
Choreoathetosis 32
Cleft Palate 271
Clouding of corneal stroma 50
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital hypoplasia of lung 48
Corneal Opacity 53
Cryptorchidism 296
Curvature of little finger 110
Decreased tendon reflex 122
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Epilepsy 792
Excess nuchal skin 30
Fryns syndrome 1
Gastroesophageal reflux disease 110
Global developmental delay 608
Global developmental delay, severe 47
Heart Septal Defects 24
Heartburn 78
Hydronephrosis 89
Hyperreflexia 209
Hypoplastic fingernails 11
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Inverted V-shaped upper lip 19
Large fleshy ears 2
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Macrostomia 72
Mandibular hypoplasia 275
Median cleft lip 7
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Narrow forehead 34
Nasal bridge wide 236
Nipples absent or rudimentary 3
Non-midline cleft lip 6
Nystagmus 317
Open mouth 45
Orbital separation excessive 244
Overfolded helix 24
Patent ductus arteriosus 90
Polyhydramnios 108
Poor school performance 645
Prenatal onset 139
Seizures 596
Severe psychomotor retardation 47
Short distal phalanges 50
Short neck 140
Short nose 132
Small nose 132
Stricture of anus 13
Tented mouth 19
Tented upper lip 19
Testicular Hydrocele 8
Tetralogy of Fallot 67
Thickened facial skin with coarse facial features 108
Thin lips 49
Tremor 113
Uranostaphyloschisis 167
Wide spaced nipples 46
Disease Target Count P-value
ependymoma 4679 2.9e-10
Pick disease 1894 9.8e-06
tuberculosis 2010 9.9e-06
malignant mesothelioma 3232 4.0e-05
ovarian cancer 8520 5.9e-05
osteosarcoma 7950 1.9e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Paget's disease of bone 36 0.0 1.2
Disease Target Count
FRNS 1

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma 1.100 2.9e-10
malignant mesothelioma 1.200 4.0e-05
osteosarcoma -1.253 1.9e-02
ovarian cancer -1.300 5.9e-05
Pick disease -1.100 9.8e-06
tuberculosis 1.100 9.9e-06

Gene RIF (10)

AA Sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRA      1 - 70
PFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPD     71 - 140
ILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHL    141 - 210
LGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETL    211 - 280
TPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLN    281 - 350
NTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL    351 - 420
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVA    421 - 490
IGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVL    491 - 560
SFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLL    561 - 630
SLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPL    631 - 700
LSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYN    701 - 770
TDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV    771 - 840
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNG    841 - 910
LAQLLTTKKLRLCGKPKSHFM                                                     911 - 931
//

Text Mined References (21)

PMID Year Title