Property Summary

NCBI Gene PubMed Count 495
PubMed Score 4122.50
PubTator Score 1729.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Palmoplantar keratosis 74
Dental Enamel Hypoplasia 43
Epilepsy 792
diabetes mellitus 1728
2-4 toe cutaneous syndactyly 1
3-4 toe syndactyly 3
4-5 finger syndactyly 1
ATRIOVENTRICULAR SEPTAL DEFECT 3 1
Abnormal blistering of the skin 54
Abnormal cortical bone morphology 22
Abnormal skeletal development 60
Abnormality of the fingernails 51
Abnormality of the metaphyses 48
Abnormality of the nasopharynx 9
Abnormality of the thorax 19
Abnormally small eyeball 97
Absence of a tooth 6
Absent middle phalanx of the 5th finger 1
Acquired cubitus valgus 18
Agenesis of teeth 21
Alopecia 115
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anhedonia 27
Autosomal recessive predisposition 1442
Basal ganglia calcification 27
Bell Palsy 58
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Blister of skin 54
Bony paranasal bossing 1
Brachycephaly 88
Broad alveolar processes of jaw 3
Broad alveolar ridges 3
Broad cranium shape 88
Broad flat nasal bridge 236
Broad long bones 5
Cardiac Arrhythmia 103
Cataract 297
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Cerebral calcification 43
Class III malocclusion 78
Cleft Lip 141
Cleft Palate 271
Club-shaped distal femora 1
Coarse facial features 108
Cognitive delay 608
Common atrioventricular canal 2
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital alopecia totalis 2
Congenital clinodactyly 57
Congenital hypoplasia of aortic arch 2
Congestive heart failure 113
Corneal diameter decreased 47
Cortical white matter abnormalities seen on MRI 18
Craniofacial hyperostosis 11
Curly hair (finding) 14
Curvature of digit 57
Curvature of little finger 110
Curvature of outermost bone of little finger 1
Cyanosis 17
Decreased projection of maxilla 66
Decreased size of eyeball 97
Decreased size of teeth 62
Decreased width of tooth 59
Defective enamel matrix 35
Defective tooth enamel 31
Deficiency of upper jaw bones 66
Delayed bone age 136
Delayed eruption of permanent teeth 8
Dental abnormalities 60
Dental caries 164
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diaphragmatic Hernia 40
Downward slant of palpebral fissure 158
Dry hair 7
Dry skin 75
Dull intelligence 645
Dysarthria 192
Dysplasia of tooth enamel 35
Dystrophic fingernails 18
Dystrophic tooth enamel 31
Early tooth exfoliation 17
Enamel abnormalities 31
Enlargement of craniofacial bones 11
Enlargement of facial bones 2
Enlargement of skull bones 7
Erythema 58
Exanthema 43
Excessive growth of skull bones 7
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Fifth finger camptodactyly 3
Fifth finger distal phalanx clinodactyly 1
Fine hair 42
Fingernail dysplasia 6
First degree atrioventricular block 5
Fleshy earlobes 8
Flexion contracture of proximal interphalangeal joint 75
Flushing 60
Fragile nails 16
Frontal bossing 157
Gait abnormality 135
Glaucoma 239
Global developmental delay 608
Hallermann's Syndrome 1
Hearing Loss, Mixed Conductive-Sensorineural 12
Heart failure 162
High forehead 102
High-grade hypermetropia 24
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperactive deep tendon reflexes 4
Hyperkeratosis, generalized 14
Hyperostosis of cranial vault 7
Hyperostosis of facial bones 2
Hyperpigmented macules 42
Hyperplasia of columella 4
Hyperplasia of permanent maxillary central incisor 3
Hyperreflexia 209
Hypertensive disease 292
Hypertrophy of cranial bones 7
Hypertrophy of craniofacial bones 11
Hypertrophy of facial bones 2
Hypertrophy of lower jaw 78
Hypertrophy of permanent maxillary central incisor 3
Hypoplasia of the maxilla 66
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypotrichosis 47
Hypotrophic maxilla 66
Idiopathic pulmonary arterial hypertension 40
Inadequate arch length for tooth size 45
Increased head circumference 147
Increased ossification of facial bones 2
Increased size of cranium 147
Increased size of mandible 78
Increased size of permanent maxillary central incisor 3
Increased size of skull 147
Infantile onset 238
Intellectual disability 1016
Late tooth eruption 61
Lens Opacities 231
Leukoaraiosis 18
Long nose 15
Long philtrum 137
Low Vision 174
Low intelligence 645
Low set ears 181
Major Depressive Disorder 301
Malformed pinnae 37
Malocclusion 57
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Maxillary retrognathia 66
Median cleft lip 7
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Microdontia (disorder) 59
Micrognathism 275
Microphthalmos 100
Microstomia 78
Mild global developmental delay 14
Muscle Spasticity 195
Muscle Weakness 170
Myopia 176
Nail dysplasia 52
Narrow nose 20
Nasal bridge wide 236
Nasal congestion (finding) 2
Nasal obstruction present finding 3
Neurogenic Urinary Bladder 6
Oculo-dento-digital syndrome 1
Optic Atrophy 242
Orbital separation diminished 23
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteopetrosis 43
Ostium primum atrial septal defect 3
Paraparesis 6
Paraparesis, Spastic 16
Partial atrioventricular canal 5
Patchy palmoplantar keratoderma 3
Pediatric failure to thrive 365
Persistent pupillary membranes 1
Phalangeal sclerosis 1
Phenotypic variability 150
Photosensitivity of skin 51
Pinched bridge of nose 14
Pinched nasal bridge 14
Poor school performance 645
Precocious exfoliation of primary tooth 11
Premature tooth loss 17
Prominent epicanthal folds 3
Prominent, protruding upper incisors 3
Psychomotor retardation, mild 14
Pulmonary hypertension 85
Pyle metaphyseal dysplasia 8
Quadriparesis 8
Reduced number of teeth 21
Retrusion of upper jaw bones 66
Rotting teeth 73
SYNDACTYLY, TYPE III 1
Schwartz-Lelek syndrome 2
Seizures 596
Selective tooth agenesis 6
Short fifth finger 9
Short middle phalanx of the 5th finger 13
Short nose 132
Short palpebral fissure 38
Short stature 531
Short to absent middle phalanges 5
Skin bulla 54
Slow-growing hair 19
Small hand 36
Small head 374
Small nose 132
Sparse eyelashes 31
Sparse hair 59
Splayed metaphyses 19
Syndactyly of fingers 48
Syndactyly of the toes 45
Tall forehead 102
Telecanthus 62
Thick craniofacial bones 11
Thick skull bones 7
Thickened facial skin with coarse facial features 108
Thin anteverted nares 1
Thin dental enamel 35
Thin hypoplastic alae nasi 51
Thin lips 49
Thin, sparse hair 59
Tooth Abnormalities 69
Tooth Crowding 45
Tooth hypoplasia 7
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Unipolar Depression 250
Uranostaphyloschisis 167
Vertebral hyperostosis 1
Visual Impairment 174
Weight decreased 103
Wide columella 4
Wide skull shape 88
Xerosis 75
mandibular excess (physical finding) 78
pulmonary arterial hypertension 75
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Heart disease 306 5.688 2.8
Disease Target Count Z-score Confidence
Right atrial isomerism 29 0.0 5.0

Expression

  Differential Expression (30)

Disease log2 FC p
diabetes mellitus -1.400 3.0e-02
active ulcerative colitis 5.128 3.8e-03
acute quadriplegic myopathy 1.242 2.2e-02
aldosterone-producing adenoma -1.082 5.0e-02
autosomal dominant Emery-Dreifuss muscul... 2.328 8.3e-04
Becker muscular dystrophy 1.403 1.2e-02
Breast cancer -1.500 9.9e-04
breast carcinoma 1.800 1.0e-02
dermatomyositis 2.300 2.2e-03
Down syndrome 1.600 5.1e-03
Duchenne muscular dystrophy 2.378 2.4e-08
gastric carcinoma 1.500 5.3e-03
group 3 medulloblastoma -3.000 7.7e-08
intraductal papillary-mucinous adenoma (... -3.000 2.1e-03
intraductal papillary-mucinous carcinoma... -2.700 2.2e-02
intraductal papillary-mucinous neoplasm ... -2.400 4.0e-02
invasive ductal carcinoma -1.200 4.4e-02
juvenile dermatomyositis 1.858 2.2e-10
lung adenocarcinoma -1.200 1.6e-09
lung cancer -1.300 5.8e-04
lung carcinoma -1.300 2.2e-08
malignant mesothelioma -3.000 1.3e-07
medulloblastoma, large-cell -4.400 7.9e-06
nasopharyngeal carcinoma 1.400 8.0e-03
osteosarcoma 2.269 4.0e-03
ovarian cancer -4.600 4.6e-07
pancreatic cancer 2.200 4.3e-03
pituitary cancer -3.700 3.9e-07
primary pancreatic ductal adenocarcinoma 2.269 7.1e-03
primitive neuroectodermal tumor -2.100 1.4e-02

Protein-protein Interaction (2)

Gene RIF (438)

AA Sequence

MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSF      1 - 70
PISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIE     71 - 140
EHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFI    141 - 210
IFMLVVSLVSLALNIIELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSP    211 - 280
MSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAG    281 - 350
HELQPLAIVDQRPSSRASSRASSRPRPDDLEI                                          351 - 382
//

Text Mined References (509)

PMID Year Title