Property Summary

Ligand Count 1,024
NCBI Gene PubMed Count 1,862
PubMed Score 220.93
PubTator Score 4341.62

Knowledge Summary

Patent (172,202)

TINX Plot

  Disease (8)

Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal hypothalamus morphology 3
Abnormal platelet function 12
Abnormality of aortic valve 9
Abnormality of pulmonary valve 23
Abnormality of the mitral valve 3
Abnormality of the spleen 13
Abnormality of the ulna 10
Abnormality of vision 40
Absence of eyebrows 31
Absent eyebrow 13
Absent eyelashes 16
Acquired cubitus valgus 18
Acquired scoliosis 281
Adenocarcinoma of lung (disorder) 60
Agenesis of eyebrows 13
Amegakaryocytic thrombocytopenia 6
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anomalous pulmonary artery 4
Anteverted nostril 191
Aortic coarctation 30
Aplasia of eyebrows 13
Aplasia of eyelashes 16
Aplasia/Hypoplasia of the abdominal wall musculature 17
Aplasia/Hypoplasia of the eyebrow 31
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Baby eczema 1
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Biparietal narrowing 28
Bitemporal Hemianopia 2
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Brachydactyly 156
Brittle hair 25
Broad chest 8
Broad flat nasal bridge 236
Bronchioloalveolar Adenocarcinoma 14
Bulbous nasal tip 48
Bulbous nose 48
Bulging forehead 66
Bundle-Branch Block 8
Byzanthine arch palate 194
Cafe au lait spots, multiple 17
Carcinoma of lung 3
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardio-facio-cutaneous syndrome 6
Central Diabetes Insipidus 5
Cerebral atrophy 178
Cerebral calcification 43
Chubby cheeks 50
Coagulation abnormalities 27
Coarse facial features 108
Coarse hair 31
Cognitive delay 608
Colorectal cancer 25
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital bronchogenic cyst 3
Congenital clinodactyly 57
Congenital deafness 185
Congenital pectus carinatum 52
Constipation 181
Costello syndrome (disorder) 6
Cryptorchidism 296
Curly hair (finding) 14
Curvature of digit 57
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Decreased fertility 33
Decreased projection of midface 105
Decreased visual acuity, progressive 36
Decreased visual acuity, slowly progressive 13
Decreased width of the skull 28
Deep palmar crease 8
Deep philtrum 21
Defective or absent horizontal voluntary eye movements 25
Delayed bone age 136
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Dermatitis, Atopic 37
Downward slant of palpebral fissure 158
Dry skin 75
Dull intelligence 645
Dysarthria 192
Dyschezia 135
Dystrophic fingernails 18
EARLOBE CREASE 1
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 101
Endocardial Cushion Defects 17
Enlarged thorax 18
Epilepsy 792
Excess nuchal skin 30
Excessive wrinkled skin 16
Exophthalmos 112
Factor XII deficiency 13
Failure of development of eyelashes 16
Failure to gain weight 365
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fine hair 42
Flattening of the zygomatic bone 22
Fractured hair 25
Fragile hair 25
Freckles 33
Frontal bossing 157
Frontal lobe hypoplasia 9
Full cheeks 50
Full lower lip 64
Gastroesophageal reflux disease 110
Generalized hyperpigmentation 22
Generalized osteopenia 99
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Headache 37
Hearing Loss, Partial 185
Heartburn 78
Hemangioma, Cavernous 20
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
High, narrow palate 32
Hydrocephalus 152
Hydronephrosis 89
Hyperextensible digits 7
Hyperkeratosis 50
Hyperplasia of cheeks 50
Hyperprolactinemia 27
Hypertrophic Cardiomyopathy 117
Hypertrophy of cheeks 50
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypomelanotic macule 3
Hypoplasia of the zygomatic bone 22
Hypoplasia or absence of the corpus callosum 23
Hypoplastic mandible condyle 275
Hypotrophic cheekbone 22
Hypotrophic midface 105
Ichthyoses 41
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intracranial cystic lesion 2
Intrauterine retardation 176
Joint hyperflexibility 78
Kidney Neoplasm 29
Kyphoscoliosis deformity of spine 60
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Liver carcinoma 240
Long face 71
Long narrow head 75
Long palpebral fissure 17
Long philtrum 137
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Lymphatic obstruction 21
Lymphedema 42
Lymphoma, Non-Hodgkin 24
Lytic lesion 32
Macrotia 87
Madarosis of eyebrow 13
Male infertility 206
Malignant peripheral nerve sheath tumor 12
Malocclusion 57
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Multiple lentigines 10
Multiple palmar creases 1
Multiple plantar creases 1
Muscle Hypertonia 88
Muscle Weakness 170
Muscle hypotonia 571
Myopia 176
Narrow cranium shape 75
Narrow forehead 34
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Nausea and vomiting 97
Neck webbing 35
Neonatal Hypotonia 64
Neoplasm of the anterior pituitary 2
Neurofibrosarcoma 7
Noncancerous mole 28
Numerous nevi 5
Nystagmus 317
Obesity 678
Oculomotor apraxia 25
Onset of lymphedema around puberty 21
Open Bite 21
Open mouth 45
Optic nerve dysplasia 6
Orbital separation excessive 244
Osteopenia 99
Palmoplantar keratosis 74
Papillary thyroid carcinoma 43
Papilledema 11
Papule 43
Partial to total absence of eyelashes 7
Patent ductus arteriosus 90
Pectus carinatum superiorly 4
Pectus excavatum 100
Pectus excavatum inferiorly 5
Pediatric failure to thrive 365
Pilocytic astrocytoma 56
Pituitary gland enlarged 2
Polyhydramnios 108
Poor growth 114
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Potato nose 48
Premature Birth 77
Premature birth of newborn 67
Prenatal onset 139
Progressive visual field defects 3
Progressive visual loss 36
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Puffy cheeks 50
Pulmonary Stenosis 45
Pulmonary artery stenosis 22
Radially deviated fingers 38
Reduced factor XIII activity 5
Reduced tensile strength of hair 25
Relative macrocephaly 12
Rough hair texture 31
Scapular weakness 23
Secondary Adrenal Insufficiency 6
Secondary hypothyroidism 15
Seizures 596
Senile lentigo 10
Sensorineural Hearing Loss (disorder) 284
Severe sensorineural hearing impairment 5
Shield chest 8
Short neck 140
Short nose 132
Short stature 531
Skin hyperelastic 32
Skin nodule 3
Slow decrease in visual acuity 13
Slow-growing hair 19
Small cheekbone 22
Small midface 105
Small nose 132
Somnolence 15
Sparse hair 59
Sparse or absent eyebrows 31
Sparse or absent eyelashes 7
Sparse to absent eyelashes 7
Sparse/absent eyebrows 31
Splenomegaly 190
Sprengel deformity 16
Strabismus 270
Submucous cleft of hard palate 11
Submucous clefting 9
Synovitis 78
Tall forehead 102
Tetralogy of Fallot 63
Thickened facial skin with coarse facial features 108
Thickened helices 15
Thin, sparse hair 59
Thyroid Neoplasm 37
Tongue thrusting 2
Triangular face 58
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Ventricular Septal Defects 119
Very poor growth 114
Visual field tests abnormal 2
Vomiting 116
Wide spaced nipples 46
Winged scapula 23
Xerosis 75
hearing impairment 199
Disease Target Count Z-score Confidence
Cancer 2499 4.448 2.2
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (14)

Disease log2 FC p
ovarian cancer 1.400 3.0e-08
adult high grade glioma -1.100 4.1e-04
astrocytic glioma -1.200 1.3e-02
atypical teratoid / rhabdoid tumor -1.400 1.0e-08
ependymoma -1.200 3.6e-02
glioblastoma -1.400 9.6e-08
interstitial cystitis -1.200 1.9e-03
medulloblastoma, large-cell -1.400 1.3e-05
oligodendroglioma -1.200 1.4e-02
osteosarcoma -1.451 2.9e-05
psoriasis -1.800 3.5e-04
spina bifida -1.320 3.7e-02
subependymal giant cell astrocytoma -1.912 3.1e-02
tuberculosis -2.000 3.9e-07

PDB (65)

Gene RIF (1883)

AA Sequence

MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGG      1 - 70
EHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQN     71 - 140
PTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDSLKKALMMRGLIPECCAVYRIQDGEKKPIGW    141 - 210
DTDISWLTGEELHVEVLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMC    211 - 280
VNYDQLDLLFVSKFFEHHPIPQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPAD    281 - 350
EDHRNQFGQRDRSSSAPNVHINTIEPVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSP    351 - 420
GPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAP    421 - 490
TPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHHLHIIETKFEMIKLIDIARQT    491 - 560
AQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSILWMAPEVIRMQDK    561 - 630
NPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKK    631 - 700
RDERPLFPQILASIELLARSLPKIHRSASEPSLNRAGFQTEDFSLYACASPKTPIQAGGYGAFPVH        701 - 766
//

Text Mined References (1873)

PMID Year Title