Property Summary

NCBI Gene PubMed Count 85
PubMed Score 316.96
PubTator Score 130.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Pituitary hypoplasia 23
Holoprosencephaly 56
Abnormal prolactin level 7
Abnormality of secondary sexual hair 6
Abnormality of the cranial nerves 7
Abnormally small eyeball 97
Absence of eyebrows 31
Absent mandible 6
Absent nares 2
Agenesis of corpus callosum 83
Anterior pituitary agenesis 6
Anterior pituitary hypoplasia 13
Aplasia/Hypoplasia involving the nose 5
Aplasia/Hypoplasia of the breasts 10
Aplasia/Hypoplasia of the eyebrow 31
Aplasia/Hypoplasia of the nares 2
Bipolar Disorder 666
Cataract 297
Cerebellar hypoplasia and atrophy 41
Cleft Palate 271
Cognitive delay 608
Congenital absence of jaw 3
Congenital absence of mandible 3
Congenital hypoplasia of nose 5
Congenital hypoplasia of penis 176
Congenital ocular coloboma (disorder) 40
Corneal diameter decreased 47
Cranial nerve abnormality 7
Cryptorchidism 296
Cyclocephaly 4
Decreased circulating ACTH level 12
Decreased size of eyeball 97
Depressed nasal ridge 51
Ectopic posterior pituitary 6
Epilepsy 792
Fatigue 182
Fetal Alcohol Spectrum Disorders 13
Fetal alcohol syndrome 22
Generalized osteopenia 99
Global developmental delay 608
Hemiplegia and hemiparesis 38
Hypoglycemia 152
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypotension 82
Hypotrophic nose 5
Infertility 188
Joint laxity 54
Lens Opacities 231
Low Vision 174
Low-set, posteriorly rotated ears 110
MICROPHTHALMIA, ISOLATED 1 7
Mental and motor retardation 608
Microcornea 47
Microglossia 10
Microphthalmos 100
Microstomia 78
Muscle hypotonia 571
Narrow internal auditory canal 8
Nystagmus 317
Osteopenia 99
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 1
Pituitary Hormone Deficiency, Combined, 1 6
Pituitary stalk interruption syndrome 7
Polyhydramnios 108
Respiratory distress 43
Retinal Dystrophies 33
SCHIZOPHRENIA 15 2
Schizophrenia 1160
Secondary hypothyroidism 15
Seizures 596
Septo-Optic Dysplasia 11
Short stature 531
Situs Inversus 65
Situs ambiguus 25
Small testicle 75
Small tongue 10
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Strabismus 270
Synotus 2
Uranostaphyloschisis 167
Visual Impairment 174
menstrual periods stopped for over 6 months 13
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Coloboma 51 3.952 2.0
Panhypopituitarism 14 0.0 5.0
Disease Target Count Z-score Confidence
Microphthalmia 76 5.498 2.7

Expression

  Differential Expression (5)

Gene RIF (68)

AA Sequence

MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREE      1 - 70
VALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVP     71 - 140
TIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHH    141 - 210
QLPGPGATLSPMGTNAVTSHLNQSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQ    211 - 280
TSSWKFQVL                                                                 281 - 289
//

Text Mined References (86)

PMID Year Title