Property Summary

NCBI Gene PubMed Count 438
PubMed Score 1389.74
PubTator Score 1344.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Pituitary adenoma 38
Hypothyroidism 122
Hyperthyroidism 53
ACTH-independent hypercortisolemia 4
Abnormal skeletal development 60
Abnormality of the musculature 16
Adult onset 82
Agitation 16
Anxiety 136
Anxiety disease 113
Basal ganglia calcification 27
Biliary calculi 4
Blind Vision 111
Blindness, Legal 110
Bone pain 42
Broad 1st metacarpal 1
Cafe au lait spots, multiple 17
Calcified choroid plexus 2
Cardiomyopathies 110
Cataract 297
Chubby cheeks 50
Coarse facial features 108
Concave bridge of nose 195
Congenital deafness 185
Constrictive median neuropathy 2
Craniofacial hyperostosis 11
Deafness 198
Decreased bone mineral density Z score 31
Decreased circulating ACTH level 12
Decreased joint mobility 53
Defective enamel matrix 35
Dental Enamel Hypoplasia 43
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Dermatologic disorders 93
Dull intelligence 645
Dysplasia of tooth enamel 35
Ecchymosis 66
Ectopic calcification 1
Ectopic ossification in muscle tissue 2
Endogenous depression 8
Enlargement of craniofacial bones 11
Epilepsy 792
Facial asymmetry 32
Failure to gain weight 365
Fatigue 182
Fibrous Dysplasia, Monostotic 1
Frequent fractures 53
Full cheeks 50
Galactorrhea 5
Gastrointestinal polyps 5
Generalized hirsutism 36
Generalized hyperpigmentation 22
Generalized osteopenia 99
Growth delay 114
Growth failure 114
Growth hormone excess 14
Growth retardation 115
Hearing Loss, Partial 185
Heterotopic Ossification 3
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hyperkyphosis 111
Hyperparathyroidism 48
Hyperphagia 23
Hyperphosphatemia (disorder) 17
Hyperplasia of cheeks 50
Hyperprolactinemia 27
Hypertensive disease 292
Hypertrophy of cheeks 50
Hypertrophy of craniofacial bones 11
Hypocalcemia 32
Hypocalcemic tetany 1
Hypogonadism 173
Hypophosphatemia 40
Hypoplastic finger 17
Hypoplastic toes 29
Impaired cognition 96
Increase in blood pressure 119
Increased appetite (finding) 23
Increased circulating cortisol level 7
Increased fracture rate 53
Increased serum IGF1 3
Increased serum parathyroid hormone 14
Increased tendency to bruise 66
Increased thickness of cranium 17
Infantile onset 238
Intermenstrual heavy bleeding 4
Intestinal Polyposis 6
Irregular periods 6
Isolated cases 72
Isolated somatotropin deficiency 30
Kyphosis deformity of spine 114
Large cafe-au-lait macules with irregular margins 1
Late tooth eruption 61
Left Ventricular Hypertrophy 47
Lens Opacities 231
Linear atrophy 15
Low intelligence 645
Low urinary cyclic AMP response to PTH administration 2
Macronodular adrenal hyperplasia 1
Mental Retardation 645
Mental deficiency 645
Mental deterioration 32
Mental impairment 95
Mood swings 77
Multiple, subcutaneous nodules 53
Muscle Weakness 170
Nephrolithiasis 56
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Obesity, Abdominal 24
Osteochondrodysplasias 72
Osteoma 1
Osteoma cutis 1
Osteopenia 99
Osteoporosis 363
Osteosclerosis 31
Pathological fracture 20
Pediatric failure to thrive 365
Phenotypic variability 150
Pituitary growth hormone cell adenoma 8
Polyostotic fibrous dysplasia 1
Poor growth 114
Poor school performance 645
Precocious Puberty 28
Primary hypercorticolism 4
Progressive disorder 142
Prolactinoma 11
Psychotic Disorders 151
Puffy cheeks 50
Round face 45
Round, full face 45
SERUM PHOSPHATE ELEVATED 14
Schizophrenia 1160
Seizures 596
Short 4th metacarpal 7
Short 5th metacarpal 5
Short fifth metatarsal 2
Short finger 17
Short metacarpal 43
Short metatarsal 21
Short neck 140
Short stature 531
Skeletal muscle atrophy 139
Skin Abnormalities 37
Somatic mosaicism 6
Somatic mutation 61
Subcutaneous nodule 53
Thick craniofacial bones 11
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Thin dental enamel 35
Thin skin 47
Thyrotoxicosis due to pituitary thyroid hormone resistance 1
Variable expressivity 157
Varying degree of multiple fractures 53
Very poor growth 114
diabetes mellitus 1728
hearing impairment 199
muscle degeneration 139
Disease Target Count Z-score Confidence
Kidney disease 430 0.0 3.0
substance-related disorder 162 0.0 0.9
Disease Target Count Z-score Confidence
Cancer 2499 4.074 2.0
Cushing's syndrome 48 3.595 1.8

Expression

  Differential Expression (24)

Disease log2 FC p
pituitary cancer -1.900 2.1e-04
ovarian cancer -1.200 3.5e-04
adult high grade glioma -2.800 1.6e-07
aldosterone-producing adenoma -1.441 1.7e-02
Alzheimer's disease -1.300 1.5e-02
astrocytic glioma -2.500 3.0e-03
Astrocytoma, Pilocytic -2.900 1.3e-13
atypical teratoid / rhabdoid tumor -2.700 9.0e-06
cystic fibrosis -1.070 4.8e-03
ductal carcinoma in situ 1.300 3.4e-02
ependymoma -3.500 5.0e-03
glioblastoma -2.400 8.7e-09
group 4 medulloblastoma -1.100 1.1e-03
interstitial cystitis 1.100 4.7e-03
intraductal papillary-mucinous adenoma (... -1.200 1.1e-04
intraductal papillary-mucinous carcinoma... -1.400 1.4e-03
intraductal papillary-mucinous neoplasm ... -1.500 5.2e-03
invasive ductal carcinoma 1.900 3.1e-02
medulloblastoma, large-cell -1.500 1.9e-04
oligodendroglioma -2.000 1.4e-02
osteosarcoma -1.852 3.0e-03
Pick disease -1.100 2.4e-05
progressive supranuclear palsy -1.100 4.5e-02
tuberculosis and treatment for 3 months -1.100 6.4e-03

Synonym

Accession P84996 A2A2S4
Symbols AHO
GSA
GSP
POH
GPSA
NESP
SCG6
SgVI
GNAS1
PITA3
C20orf45

Gene

  Ortholog (2)

Gene RIF (350)

AA Sequence

MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLDSPVGSMQALR      1 - 70
PSAQHSWSPEPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQTLLQEAQVLQGSPELLPRSP     71 - 140
KPSGLQRLAPEEATALPLRRLCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQSRPRVRSASLPPRTR    141 - 210
LPSGSQAPSAAHPKRLSDLLLTSRAAAPGWRSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEP    211 - 280
QIRESEQRDPQLRRKQQRWKEPLMPRREEKYPLRGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPT    281 - 350
PGQHQPILTPGHSQPIPTPGQPLPPQPIPTPGRPLTPQPIPTPGRPLTPQPIQMPGRPLRLPPPLRLLRP    351 - 420
GQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLLRGLLARLPGG    421 - 490
ASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAESPSATYSATFSCKPSGAASVD    491 - 560
LRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQRRNAVSSSTNNSRTKRWATCVRTACCF        561 - 626
//

Text Mined References (442)

PMID Year Title