Property Summary

Ligand Count 223
NCBI Gene PubMed Count 319
PubMed Score 862.43
PubTator Score 555.59

Knowledge Summary

Patent (54,927)

TINX Plot

  Disease (9)

Disease Target Count
Abnormality of the palpebral fissures 1
Abnormality of the ulna 10
Abnormality of vision 40
Absence of eyebrows 31
Acquired cubitus valgus 18
Acquired scoliosis 281
Adenocarcinoma of lung (disorder) 60
Amegakaryocytic thrombocytopenia 6
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Aortic coarctation 30
Aplasia/Hypoplasia of the eyebrow 31
Atrial Septal Defects 85
Big calvaria 147
Biparietal narrowing 28
Bleeding tendency 37
Blepharoptosis 231
Brachydactyly 156
Brittle hair 25
Broad chest 8
Byzanthine arch palate 194
Cafe au lait spots, multiple 17
Cardio-facio-cutaneous syndrome 6
Chubby cheeks 50
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital clinodactyly 57
Costello syndrome (disorder) 6
Cryptorchidism 296
Curly hair (finding) 14
Curvature of digit 57
Curvature of spine 282
Decreased bone mineral density Z score 31
Decreased width of the skull 28
Deep palmar crease 8
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive Disorder, Treatment-Resistant 6
Downward slant of palpebral fissure 158
Dry skin 75
Dull intelligence 645
Dystrophic fingernails 18
Electroencephalogram abnormal 101
Epilepsy 792
Excessive wrinkled skin 16
Factor XII deficiency 13
Failure to gain weight 365
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Fine hair 42
Flattening of the zygomatic bone 22
Fractured hair 25
Fragile hair 25
Frontal bossing 157
Full cheeks 50
Generalized hyperpigmentation 22
Global developmental delay 608
Hairy Cell Leukemia 5
Hemangioma, Cavernous 20
High forehead 102
High, narrow palate 32
Hyperhidrosis disorder 81
Hyperkeratosis pilaris 2
Hyperplasia of cheeks 50
Hypertrophic Cardiomyopathy 117
Hypertrophy of cheeks 50
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypotrophic cheekbone 22
Ichthyoses 41
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Increased sweating 81
Intellectual disability 1016
Intolerant of heat 7
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
Long face 71
Long palpebral fissure 17
Long philtrum 137
Low intelligence 645
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Lymphatic obstruction 21
Lymphedema 42
Macrostomia 72
Macrotia 87
Major Depressive Disorder 301
Male infertility 206
Malignant peripheral nerve sheath tumor 12
Malocclusion 57
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Multiple lentigines 10
Muscle hypotonia 571
Myopia 176
Neck webbing 35
Neurofibrosarcoma 7
Nystagmus 317
Onset of lymphedema around puberty 21
Orbital separation excessive 244
Palmoplantar keratosis 74
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
Poor school performance 645
Postnatal growth retardation 57
Premature Birth 77
Premature birth of newborn 67
Puffy cheeks 50
Pulmonary Stenosis 45
Radially deviated fingers 38
Reduced factor XIII activity 5
Reduced tensile strength of hair 25
Seizures 596
Senile lentigo 10
Sensorineural Hearing Loss (disorder) 284
Shield chest 8
Short neck 140
Short nose 132
Short stature 531
Skin hyperelastic 32
Slow-growing hair 19
Small cheekbone 22
Small nose 132
Sparse hair 59
Sparse or absent eyebrows 31
Sparse or absent eyelashes 7
Sparse to absent eyelashes 7
Sparse/absent eyebrows 31
Strabismus 270
Sweating 81
Synovitis 78
Tall forehead 102
Thickened facial skin with coarse facial features 108
Thickened helices 15
Thin, sparse hair 59
Triangular face 58
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Unipolar Depression 250
Ventricular Septal Defects 119
Xerosis 75
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.7
Skin cancer 469 0.0 0.9
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0
Disease Target Count Z-score Confidence
Cancer 2499 5.576 2.8
Vascular disease 319 3.362 1.7
Erdheim-Chester disease 7 3.151 1.6

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -1.700 3.5e-03
atypical teratoid / rhabdoid tumor -1.400 2.3e-06
dermatomyositis 1.100 4.9e-03
ependymoma -1.800 8.4e-03
glioblastoma -1.100 2.5e-02
group 3 medulloblastoma -1.200 1.5e-02
medulloblastoma, large-cell -2.100 3.2e-05
Multiple myeloma 1.710 1.4e-03
oligodendroglioma -1.200 4.0e-02
ovarian cancer -1.100 2.7e-03
Pick disease -1.400 1.4e-03
primitive neuroectodermal tumor -1.500 2.8e-04
subependymal giant cell astrocytoma -2.129 1.9e-02

 GWAS Trait (1)

Gene RIF (246)

AA Sequence

MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEK      1 - 70
ISELGAGNGGVVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEIS     71 - 140
ICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFG    141 - 210
VSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVE    211 - 280
GDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERA    281 - 350
DLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV                               351 - 393
//

Text Mined References (333)

PMID Year Title