Property Summary

Ligand Count 4
NCBI Gene PubMed Count 88
PubMed Score 276.54
PubTator Score 198.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
Holoprosencephaly 56
7-Dehydrocholesterol Reductase Deficiency 1
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormal dermatoglyphic pattern 24
Abnormal lung lobation 10
Abnormality of the larynx 6
Abnormality of the metacarpal bones 17
Aggressive behavior 75
Aggressive reaction 75
Ambiguous Genitalia 24
Anteverted nostril 191
Aortic coarctation 30
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Bicornuate uterus 11
Bifid scrotum 16
Biparietal narrowing 28
Blepharoptosis 231
Breech Presentation 10
Broad alveolar processes of jaw 3
Broad alveolar ridges 3
Broad flat nasal bridge 236
Cataract 297
Cerebellar hypoplasia and atrophy 41
Cholestatic liver disease 3
Cleft Palate 271
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital absence of kidney 31
Congenital deafness 185
Congenital hypoplasia of kidney 32
Congenital hypoplasia of lung 48
Congenital hypoplasia of penis 176
Congenital malrotation of intestine 16
Constipation 181
Cryptorchidism 296
Cutis marmorata 32
Cystic kidney 30
Dandy-Walker Syndrome 39
Deafness 198
Decreased width of the skull 28
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Dull intelligence 645
Dyschezia 135
Eczema 45
Elevated 7-dehydrocholesterol 1
Endocardial Cushion Defects 17
Epilepsy 792
Facial capillary hemangioma 2
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fibular polydactyly 12
Frontal lobe hypoplasia 9
Gastroesophageal reflux disease 110
Gastrointestinal dysmotility 5
Generalized hypotonia 37
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Hammer Toe 23
Hearing Loss, Partial 185
Heartburn 78
Hirschsprung Disease 31
Hydrocephalus 152
Hydronephrosis 89
Hyperactive behavior 91
Hypertrophy of clitoris 40
Hypocholesterolemia 6
Hypoplasia of corpus callosum 90
Hypoplasia of scrotum 24
Hypoplasia of thumb 26
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Inadequate arch length for tooth size 45
Increased nuchal translucency 6
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Lens Opacities 231
Long philtrum 137
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Macrostomia 72
Mandibular hypoplasia 275
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metabolic Bone Disorder 11
Metatarsus Varus 24
Microglossia 10
Micrognathism 275
Micromelia 58
Muscle Hypertonia 88
Muscle hypotonia 571
Narrow forehead 34
Nasal bridge wide 236
Nystagmus 317
Obstruction of pelviureteric junction 8
Orbital separation excessive 244
Overriding toe 10
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Penile hypospadias 106
Periventricular neuronal heterotopia 6
Photosensitivity of skin 51
Physical aggression 76
Polyhydramnios 108
Poor school performance 645
Poor suck 17
Postaxial foot polydactyly 12
Posteriorly rotated ear 61
Precocious Puberty 28
Premature Birth 77
Premature birth of newborn 67
Proximally placed thumbs 17
Pyloric Stenosis 47
Recurrent infections 48
Recurrent otitis media 42
Reduced fetal movement 51
Renal cyst 30
Seizures 596
Self Mutilation 14
Self-Injurious Behavior 12
Septate vagina 3
Severe photosensitivity 1
Short neck 140
Short stature 531
Simple syndactyly of toes, first web space 23
Sleep-wake cycle disturbance 5
Small head 374
Small tongue 10
Somnolence 15
Stippled epiphyses 28
Strabismus 270
Talipes Calcaneovalgus 6
Toeing-in 24
Tooth Abnormalities 69
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Tracheal stenosis 23
Ulnar polydactyly of fingers 47
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Vomiting 116
Wide spaced nipples 46
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Syndactyly 88 4.448 2.2
Polydactyly 107 3.065 1.5

Expression

  Differential Expression (14)

Disease log2 FC p
Atopic dermatitis -1.100 7.1e-03
Breast cancer 1.200 4.2e-06
ductal carcinoma in situ 1.300 4.7e-02
glioblastoma 1.100 1.1e-02
group 4 medulloblastoma -1.400 5.4e-04
Hydrolethalus syndrome -1.198 1.5e-02
intraductal papillary-mucinous neoplasm ... 1.200 7.6e-03
invasive ductal carcinoma 1.500 4.7e-02
malignant mesothelioma 1.200 4.1e-06
non-small cell lung cancer 1.543 9.1e-10
ovarian cancer -1.600 5.2e-06
pancreatic ductal adenocarcinoma liver m... -1.815 6.6e-04
psoriasis 1.600 5.9e-04
subependymal giant cell astrocytoma -1.290 2.8e-02

Gene RIF (63)

AA Sequence

MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTG      1 - 70
PVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVV     71 - 140
NKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCK    141 - 210
FTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIY    211 - 280
VIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYI    281 - 350
FRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL    351 - 420
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF                   421 - 475
//

Text Mined References (98)

PMID Year Title