Property Summary

Ligand Count 14
NCBI Gene PubMed Count 158
PubMed Score 60.87
PubTator Score 108.58

Knowledge Summary

Patent (23,171)

TINX Plot

  Disease (8)

Disease Target Count
Abdominal wall muscle weakness 6
Abnormal helices 11
Abnormality of aortic valve 9
Abnormality of lateral ventricle 1
Abnormality of the lymphatic system 14
Abnormality of the thorax 19
Abnormality of the ulna 10
Abnormality of the ventricular septum 1
Abnormality of vision 40
Absence of eyebrows 31
Absent eyebrow 13
Acquired scoliosis 281
Adenoid Cystic Carcinoma 99
Agenesis of eyebrows 13
Anteverted nostril 191
Aplasia of eyebrows 13
Aplasia/Hypoplasia of the eyebrow 31
Atrial Septal Defects 85
Big calvaria 147
Biparietal narrowing 28
Bleeding time prolonged 31
Blepharoptosis 231
Brittle hair 25
Byzanthine arch palate 194
Cafe au lait spots, multiple 17
Cafe-au-lait macules with pulmonary stenosis 2
Cardio-facio-cutaneous syndrome 6
Cerebellar Hypoplasia 61
Chubby cheeks 50
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital Bilateral Cataracts 50
Congenital Epicanthus 177
Congenital cataract 50
Costello syndrome (disorder) 6
Cryptorchidism 296
Curvature of spine 282
Decreased width of the skull 28
Deep palmar crease 8
Deglutition Disorders 132
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downward slant of palpebral fissure 158
Dry skin 75
Dull intelligence 645
Dystrophic fingernails 18
Electroencephalogram abnormal 101
Excessive wrinkled skin 16
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
Hemangioma, Cavernous 20
High forehead 102
Hyperhidrosis disorder 81
Hyperplasia of cheeks 50
Hypertrophic Cardiomyopathy 117
Hypertrophy of cheeks 50
Hypoplasia of corpus callosum 90
Hypoplasia of the optic nerve 17
Hypoplasia of the zygomatic bone 22
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
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
Lymphatic Diseases 14
Macrotia 87
Madarosis of eyebrow 13
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Multiple lentigines 10
Muscle hypotonia 571
Myopia 176
Narrow forehead 34
Neck webbing 35
Nystagmus 317
Orbital separation excessive 244
Palmoplantar keratosis 74
Partial to total absence of eyelashes 7
Pectus excavatum 100
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Puffy cheeks 50
Pulmonary Stenosis 45
Reduced tensile strength of hair 25
Senile lentigo 10
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
Specific learning disability 47
Sternal anomalies 19
Strabismus 270
Sweating 81
Tall forehead 102
Telecanthus 62
Thickened facial skin with coarse facial features 108
Thickened helices 15
Thin, sparse hair 59
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Xerosis 75
Disease Target Count P-value
juvenile dermatomyositis 1187 5.0e-09
ovarian cancer 8520 1.2e-06
psoriasis 6694 6.9e-04
Multiple myeloma 1332 5.5e-03
COPD 118 6.3e-03
osteosarcoma 7950 1.1e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (6)

Disease log2 FC p
COPD -1.100 6.3e-03
juvenile dermatomyositis -1.028 5.0e-09
Multiple myeloma 1.168 5.5e-03
osteosarcoma 1.001 1.1e-02
ovarian cancer 1.900 1.2e-06
psoriasis 1.200 6.9e-04

Protein-protein Interaction (8)

Gene RIF (120)

AA Sequence

MLARRKPVLPALTINPTIAEGPSPTSEGASEANLVDLQKKLEELELDEQQKKRLEAFLTQKAKVGELKDD      1 - 70
DFERISELGAGNGGVVTKVQHRPSGLIMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSD     71 - 140
GEISICMEHMDGGSLDQVLKEAKRIPEEILGKVSIAVLRGLAYLREKHQIMHRDVKPSNILVNSRGEIKL    141 - 210
CDFGVSGQLIDSMANSFVGTRSYMAPERLQGTHYSVQSDIWSMGLSLVELAVGRYPIPPPDAKELEAIFG    211 - 280
RPVVDGEEGEPHSISPRPRPPGRPVSGHGMDSRPAMAIFELLDYIVNEPPPKLPNGVFTPDFQEFVNKCL    281 - 350
IKNPAERADLKMLTNHTFIKRSEVEEVDFAGWLCKTLRLNQPGTPTRTAV                        351 - 400
//

Text Mined References (169)

PMID Year Title