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 27
Acute blood cancer 6
Acute leukemia 15
Biparietal narrowing 28
Bird-like facies 4
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Broad nasal tip 28
Broad-based gait 19
Cerebellar Dysmetria 56
Cerebellar vermis atrophy 4
Chromosome Breakage 36
Cognitive delay 608
Congenital Epicanthus 177
Congenital hypoplasia of kidney 32
Congenital hypoplasia of penis 176
Convex nasal bridge 57
Convex nasal ridge 37
Cortical gyral simplification 19
Cryptorchidism 296
Decreased width of the skull 28
Delayed speech and language development 112
Dilated ventricles (finding) 121
Dull intelligence 645
Dysarthria 192
Dysdiadochokinesis 25
Dyslipidemias 27
Ectopic kidney 11
Enophthalmos 75
Erythema 58
Fetal Growth Retardation 189
Flushing 60
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hernia, Inguinal 89
High forehead 102
High pitched voice 23
Hyperplasia of malar bones 4
Hypertriglyceridemia result 37
Hypoplastic mandible condyle 275
Hypothyroidism 122
Impaired cognition 96
Increased chromosomal breakage 27
Infant, Small for Gestational Age 176
Insulin Resistance 72
Insulin resistant diabetes 13
Intellectual disability 1016
Intrauterine retardation 176
LIG4 Syndrome 2
Language Delay 112
Large beaked nose 5
Long face 71
Long nose 15
Low anterior hairline 30
Low intelligence 645
Lymphoma 81
Lymphopenia 67
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Misalignment of teeth 8
Nasal bridge wide 236
Nystagmus 317
Orbital separation diminished 23
Pancytopenia 45
Photosensitivity of skin 51
Poor growth 114
Poor school performance 645
Primary gonadal insufficiency 9
Prominent midface 4
Prominent nasal bridge 57
Schizophrenia 1160
Sensory neuropathy 20
Severe combined immunodeficiency 51
Severe short-limb dwarfism 4
Short extremities 7
Short lower third of face 9
Short stature 531
Sloping forehead 46
Small chin 9
Small head 374
Speech Delay 112
Speech impairment 112
Steatohepatitis 44
Sunken eyes 63
Tall forehead 102
Telecanthus 62
Thin lips 49
Triangular face 58
Unilateral agenesis of kidney 20
Upward slant of palpebral fissure 75
Very poor growth 114
Wide skull shape 88
diabetes mellitus 1728
Disease Target Count Z-score Confidence
Cardiovascular system disease 246 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