Property Summary

NCBI Gene PubMed Count 186
PubMed Score 257.37
PubTator Score 263.19

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Brachydactyly 156
Pituitary adenoma 38
Pseudohypoparathyroidism 18
Neurilemmoma 23
Acromegaly 51
ACTH-independent hypercortisolemia 4
Abnormal prolactin level 7
Abnormality of circulating adrenocorticotropin level 1
Abnormality of female external genitalia 8
Abnormality of immune system physiology 16
Abnormally-shaped vertebrae 31
Absent/hypoplastic paranasal sinuses 5
Acoustic neuroma 11
Acquired scoliosis 281
Adrenal hyperplasia 13
Advanced bone age 35
Agitation 16
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Autistic Disorder 364
Autosomal recessive predisposition 1442
Bacterial endocarditis 2
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Broad nasal tip 28
Calvarial hyperostosis 5
Class III malocclusion 78
Cognitive delay 608
Concave bridge of nose 195
Cone-shaped epiphyses 24
Cone-shaped epiphyses of phalanges 15
Congenital Epicanthus 177
Congenital craniofacial dysostosis 2
Congenital deafness 185
Congenital dermal melanocytosis 1
Congenital dislocation of radial head 14
Congenital hypoplasia of radius 23
Congenital hypothyroidism 26
Congestive heart failure 113
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased circulating ACTH level 12
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Depressive disorder 409
Disorder of eye 27
Dull intelligence 645
Ecchymosis 66
Elevated calcitonin 3
Enlarged polycystic ovaries 10
Enlargement of calvarial bones 5
Eye Abnormalities 35
Fatigue 182
Fetal Growth Retardation 189
Freckles 33
Generalized osteopenia 99
Global developmental delay 608
Growth deficiency, mild 2
Growth hormone excess 14
Hearing Loss, Partial 185
Heart failure 162
Hirsutism 47
Hydrocephalus 152
Hyperactive behavior 91
Hyperkyphosis 111
Hyperphosphatemia (disorder) 17
Hypertensive disease 292
Hypertrophy of lower jaw 78
Hypocalcemia 32
Hypodontia 81
Hypogonadism 173
Hypoplasia of the maxilla 66
Hypoplasia of the nasal bone 2
Hypoplastic toes 29
Hypoplastic vertebral bodies 7
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increase in blood pressure 119
Increased circulating cortisol level 7
Increased ossification of calvarial bones 5
Increased serum parathyroid hormone 14
Increased size of mandible 78
Increased susceptibility to fractures 21
Increased tendency to bruise 66
Increased urinary cortisol level 2
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intracranial hypertension 32
Intrauterine retardation 176
Irregular periods 6
Isolated somatotropin deficiency 30
Kyphosis deformity of spine 114
Language Delay 112
Late tooth eruption 61
Linear atrophy 15
Long hallux 5
Low intelligence 645
Malar flattening 129
Malocclusion 57
Mandibular hyperplasia 78
Maxillary retrognathia 66
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration 32
Micromelia 58
Midface retrusion 105
Mongolian spot 4
Mood swings 77
Multiple lentigines 10
Muscle Weakness 170
Myxoid subcutaneous tumors 1
Myxoma of heart 2
Nail Diseases 24
Nail abnormality 22
Narrow interpedicular space 4
Nasal bridge wide 236
Neonatal epiphyseal stippling 1
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuropathy 261
Nevus 19
Noncancerous mole 28
Nonmedullary Thyroid Carcinoma 10
Obesity 678
Obesity, Abdominal 24
Open mouth 45
Optic Atrophy 242
Orbital separation excessive 244
Osteopenia 99
Osteoporosis 363
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) 1
Papillary thyroid carcinoma 43
Paradoxical increased cortisol secretion on dexamethasone suppression test 2
Penile hypospadias 106
Peripheral Neuropathy 134
Peripheral Schwannoma 1
Pheochromocytoma 24
Pigmented micronodular adrenocortical disease 4
Pituitary growth hormone cell adenoma 8
Poor school performance 645
Postnatal onset of mild growth retardation 2
Primary hypercorticolism 4
Profuse pigmented skin lesions 2
Psychotic Disorders 151
Pulmonic valve myxoma 1
Radial ray hypoplasia 23
Red hair 6
Relative short stature 13
Retrusion of upper jaw bones 66
Round face 45
Round, full face 45
SERUM PHOSPHATE ELEVATED 14
Senile lentigo 10
Short hands 50
Short limb dwarfism, disproportionate 22
Short metacarpal 43
Short metatarsal 21
Short nose 132
Short phalanx of finger 32
Short stature 531
Short stature, mild 13
Short ulnae 24
Skeletal muscle atrophy 139
Slender build 14
Small midface 105
Small nose 132
Spade-like hand 16
Specific learning disability 47
Speech Delay 112
Speech impairment 112
Spinal canal stenosis 12
Stippled epiphyses 28
Strabismus 270
Thin skin 47
Thrombosis of cerebral veins 6
Thyroid Gland Follicular Adenoma 9
Thyroid carcinoma 5
Thyroid follicular hyperplasia 1
ULNAR HYPOPLASIA 24
Wide skull shape 88
blue iris (physical finding) 17
diabetes mellitus 1728
hearing impairment 199
mandibular excess (physical finding) 78
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Cardiovascular system disease 246 0.0 1.3

Expression

  Differential Expression (14)

Disease log2 FC p
active Crohn's disease 1.068 3.1e-03
acute quadriplegic myopathy 1.524 7.7e-06
Amyotrophic lateral sclerosis 1.253 2.3e-06
autosomal dominant Emery-Dreifuss muscul... 1.195 2.3e-03
Breast cancer 3.400 2.5e-02
group 4 medulloblastoma 1.200 2.5e-03
hereditary spastic paraplegia -1.310 2.6e-03
lung adenocarcinoma 1.018 5.1e-04
osteosarcoma 1.744 1.1e-05
ovarian cancer -2.100 3.3e-05
pancreatic ductal adenocarcinoma liver m... -1.060 4.0e-02
Parkinson's disease -1.900 2.4e-02
Pick disease -1.300 2.8e-05
Waldenstrons macroglobulinemia 1.441 1.4e-02

Gene RIF (131)

AA Sequence

MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQK      1 - 70
AGTRTDSREDEISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSH     71 - 140
LDDNERSDIFDAMFSVSFIAGETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTP    141 - 210
RAATVKAKTNVKLWGIDRDSYRRILMGSTLRKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQ    211 - 280
KIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGPSDYFGEIALLMNRPRAATVVARGPLKCVKL    281 - 350
DRPRFERVLGPCSDILKRNIQQYNSFVSLSV                                           351 - 381
//

Text Mined References (208)

PMID Year Title