Property Summary

NCBI Gene PubMed Count 205
PubMed Score 232.86
PubTator Score 213.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Chromosome Aberrations 16 0.0 0.0
Disease Target Count
Abnormality of lipid metabolism 9
Abnormality of position of teeth 8
Acanthosis Nigricans 26
Acute blood cancer 6
Acute leukemia 15
Biparietal narrowing 28
Bird-like facies 4
Brachycephaly 86
Broad cranium shape 86
Broad flat nasal bridge 232
Broad nasal tip 28
Broad-based gait 19
Cerebellar Dysmetria 55
Cerebellar vermis atrophy 4
Chromosome Breakage 35
Cognitive delay 596
Congenital Epicanthus 175
Congenital hypoplasia of kidney 31
Congenital hypoplasia of penis 168
Convex nasal bridge 56
Convex nasal ridge 36
Cortical gyral simplification 19
Cryptorchidism 287
Decreased width of the skull 28
Delayed speech and language development 110
Dilated ventricles (finding) 119
Dull intelligence 634
Dysarthria 190
Dysdiadochokinesis 24
Dyslipidemias 27
Ectopic kidney 11
Enophthalmos 74
Erythema 57
Fetal Growth Retardation 186
Flushing 59
Global developmental delay 596
Growth delay 112
Growth failure 112
Growth retardation 113
Hernia, Inguinal 88
High forehead 101
High pitched voice 23
Hyperplasia of malar bones 4
Hypertriglyceridemia result 35
Hypoplastic mandible condyle 273
Hypothyroidism 115
Impaired cognition 95
Increased chromosomal breakage 27
Infant, Small for Gestational Age 174
Insulin Resistance 70
Insulin resistant diabetes 13
Intellectual disability 998
Intrauterine retardation 174
LIG4 Syndrome 2
Language Delay 110
Large beaked nose 5
Long face 71
Long nose 13
Low anterior hairline 30
Low intelligence 634
Lymphoma 75
Lymphopenia 66
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental impairment 95
Micrognathism 273
Misalignment of teeth 8
Nasal bridge wide 232
Nystagmus 309
Orbital separation diminished 23
Pancytopenia 45
Photosensitivity of skin 51
Poor growth 112
Poor school performance 634
Primary gonadal insufficiency 9
Prominent midface 4
Prominent nasal bridge 56
Schizophrenia 1136
Sensory neuropathy 20
Severe combined immunodeficiency 49
Severe short-limb dwarfism 4
Short extremities 7
Short lower third of face 7
Short stature 514
Sloping forehead 46
Small chin 7
Small head 366
Speech Delay 110
Speech impairment 110
Steatohepatitis 44
Sunken eyes 62
Tall forehead 101
Telecanthus 62
Thin lips 49
Triangular face 57
Unilateral agenesis of kidney 19
Upward slant of palpebral fissure 74
Very poor growth 112
Wide skull shape 86
diabetes mellitus 1683
Disease Target Count Z-score Confidence
Cardiovascular system disease 240 0.0 2.4

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytic glioma -1.200 2.5e-02
Astrocytoma, Pilocytic 1.100 1.2e-07
colon cancer 2.600 1.1e-02
ependymoma 1.100 1.7e-10
group 3 medulloblastoma 1.100 1.9e-03
intraductal papillary-mucinous adenoma (... 2.200 5.7e-03
intraductal papillary-mucinous carcinoma... 1.500 1.4e-02
intraductal papillary-mucinous neoplasm ... 1.200 3.4e-02
malignant mesothelioma 1.200 6.4e-06
non diabetic and post-ischemic heart fai... -1.700 2.8e-02
oligodendroglioma -1.100 4.3e-02
osteosarcoma -1.462 3.0e-06
pancreatic cancer 1.300 8.8e-05
pituitary cancer 1.200 1.7e-04
primitive neuroectodermal tumor 1.200 1.3e-03
psoriasis -1.300 2.7e-04
tuberculosis 1.100 5.7e-04

Protein-protein Interaction (9)

Gene RIF (162)

AA Sequence

MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGEL      1 - 70
RKALLSGAGPADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAK     71 - 140
NEHLQKENERLLRDWNDVQGRFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIK    141 - 210
QEGETAICSEMTADRDPVYDESTDEESENQTDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNL    211 - 280
GTEPKMAPQENQLQEKENSRPDSSLPETSKKEHISAENMSLETLRNSSPEDLFDEI                  281 - 336
//

Text Mined References (215)

PMID Year Title