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 23
Hypothyroidism 122
Diabetes insipidus 18
Hypoglycemia 152
Abdomen distended 43
Abnormal prolactin level 7
Abnormality of secondary sexual hair 6
Abnormality of the hypothalamus-pituitary axis 12
Abnormality of the voice 46
Absence of septum pellucidum 13
Agenesis of corpus callosum 83
Anosmia 22
Anterior hypopituitarism 18
Anterior pituitary agenesis 6
Anterior pituitary hypoplasia 13
Aplasia/Hypoplasia of the breasts 10
Autosomal recessive predisposition 1442
Central hypothyroidism 6
Cleft Palate 271
Cleft palate with cleft lip 23
Coarse facial features 108
Cognitive delay 608
Congenital hypoplasia of breast 25
Congenital hypoplasia of penis 176
Constipation 181
Cryptorchidism 296
Decreased bone mineral density Z score 31
Decreased circulating ACTH level 12
Decreased fertility 33
Delayed Puberty 97
Depressed nasal ridge 51
Dull intelligence 645
Dyschezia 135
Ectopic posterior pituitary 6
Epilepsy 792
Erectile abnormalities 16
Failure to gain weight 365
Fatigue 182
Feeding difficulties 127
Generalized osteopenia 99
Global developmental delay 608
Hemiplegia and hemiparesis 38
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of optic disc 12
Hypoplasia of the optic nerve 17
Hypoplastic finger 17
Hypotension 82
Hypothalamic gonadotropin-releasing hormone deficiency 14
Icterus 82
Infertility 188
Intellectual disability 1016
Isolated somatotropin deficiency 30
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle hypotonia 571
Nystagmus 317
Oral cleft 18
Osteopenia 99
Pediatric failure to thrive 365
Phenotypic variability 150
Pituitary Hormone Deficiency, Combined, 1 6
Polydactyly 107
Poor school performance 645
Secondary hypothyroidism 15
Seizures 596
Sense of smell impaired 21
Septo-Optic Dysplasia 11
Short finger 17
Short stature 531
Sleep disturbances 37
Small testicle 75
Strabismus 270
Thickened facial skin with coarse facial features 108
Umbilical hernia 93
Uranostaphyloschisis 167
Visual Impairment 174
Wide bregma sutures 46
menstrual periods stopped for over 6 months 13
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 5112 2.1e-05
osteosarcoma 7950 2.0e-04
cutaneous lupus erythematosus 1057 6.3e-03
psoriasis 6694 7.7e-03
Disease Target Count Z-score Confidence
Panhypopituitarism 14 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