Property Summary

NCBI Gene PubMed Count 39
PubMed Score 180.09
PubTator Score 146.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Hypopituitarism and septooptic 'dysplasia' 1 0.0 0.0
Disease Target Count
Pituitary hypoplasia 19
Hypothyroidism 115
Diabetes insipidus 17
Hypoglycemia 146
Abdomen distended 41
Abnormal prolactin level 5
Abnormality of secondary sexual hair 4
Abnormality of the hypothalamus-pituitary axis 12
Abnormality of the voice 46
Absence of septum pellucidum 13
Agenesis of corpus callosum 79
Anosmia 22
Anterior hypopituitarism 18
Anterior pituitary agenesis 5
Anterior pituitary hypoplasia 9
Aplasia/Hypoplasia of the breasts 7
Autosomal recessive predisposition 1407
Central hypothyroidism 6
Cleft Palate 265
Cleft palate with cleft lip 23
Coarse facial features 103
Cognitive delay 596
Congenital hypoplasia of breast 25
Congenital hypoplasia of penis 168
Constipation 174
Cryptorchidism 287
Decreased bone mineral density Z score 30
Decreased circulating ACTH level 10
Decreased fertility 31
Delayed Puberty 94
Depressed nasal ridge 48
Dull intelligence 634
Dyschezia 129
Ectopic posterior pituitary 5
Epilepsy 775
Erectile abnormalities 16
Failure to gain weight 359
Fatigue 176
Feeding difficulties 127
Generalized osteopenia 94
Global developmental delay 596
Hemiplegia and hemiparesis 33
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Hypogonadism, Isolated Hypogonadotropic 64
Hypogonadotropic hypogonadism 82
Hypoplasia of optic disc 12
Hypoplasia of the optic nerve 15
Hypoplastic finger 17
Hypotension 78
Hypothalamic gonadotropin-releasing hormone deficiency 14
Icterus 81
Infertility 176
Intellectual disability 998
Isolated somatotropin deficiency 28
Large bregma sutures 45
Large fontanelle 45
Large, late-closing fontanelle 45
Low Vision 167
Low intelligence 634
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Muscle hypotonia 562
Nystagmus 309
Oral cleft 18
Osteopenia 94
Pediatric failure to thrive 359
Phenotypic variability 147
Pituitary Hormone Deficiency, Combined, 1 5
Polydactyly 106
Poor school performance 634
Secondary hypothyroidism 12
Seizures 584
Sense of smell impaired 21
Septo-Optic Dysplasia 7
Short finger 17
Short stature 514
Sleep disturbances 37
Small testicle 69
Strabismus 265
Thickened facial skin with coarse facial features 103
Umbilical hernia 88
Uranostaphyloschisis 162
Visual Impairment 167
Wide bregma sutures 45
menstrual periods stopped for over 6 months 11
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4971 2.1e-05
osteosarcoma 7766 2.0e-04
cutaneous lupus erythematosus 1016 6.3e-03
psoriasis 6514 7.7e-03
Disease Target Count Z-score Confidence
Panhypopituitarism 11 0.0 5.0

Expression

  Differential Expression (4)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 2.1e-05
cutaneous lupus erythematosus 1.500 6.3e-03
osteosarcoma -1.054 2.0e-04
psoriasis -1.100 7.7e-03

Protein-protein Interaction (1)

Gene RIF (25)

AA Sequence

MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGIS      1 - 70
FPSVVDHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIRED     71 - 140
LAQKLNLEEDRIQIWFQNRRAKLKRSHRESQFLMAKKNFNTNLLE                             141 - 185
//

Text Mined References (38)

PMID Year Title