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The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是生长激素/催乳素家族从而起到成长控制中起重要作用的激素的成员。的基因,与其他四个相关基因一起位于17号染色??体上的生长激素基因座在那里它们被在同一转录方向穿插;这被认为是一种安排已通过一系列基因重复的演变。这五个基因有着非常高的序列标识。选择性剪接产生每五个生长激素的附加同种型,导致进一步的多样性和潜在的专门化。这个特定的家庭成员中的垂体,但不是在胎盘组织作为对于其他四个基因在生长激素基因座的情况下表达。在突变或基因导致生长激素缺乏和身材矮小缺失。 [由RefSeq的,2008年7月提供]
GH1基因(以及对应的蛋白质)的细胞分布位置:
GH1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Isolated Growth Hormone Deficiency, Type II | 0.481628651 | 7 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Kowarski syndrome | 0.480271442 | 3 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Isolated Growth Hormone Deficiency, Type IB | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
PITUITARY DWARFISM I | 0.360542884 | 2 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET |
Mammary Neoplasms, Experimental | 0.2 | 2 | 0 | CTD_human_RGD |
Pituitary Neoplasms | 0.135210676 | 48 | 0 | BeFree_CTD_human_LHGDN |
Acromegaly | 0.131400559 | 49 | 0 | BeFree_CTD_human |
Turner Syndrome | 0.131129117 | 42 | 0 | BeFree_CTD_human |
Obesity | 0.129229024 | 35 | 0 | BeFree_CTD_human |
Cardiovascular Diseases | 0.125991584 | 5 | 0 | BeFree_CTD_human_LHGDN |
Growth Hormone-Secreting Pituitary Adenoma | 0.124071628 | 17 | 0 | BeFree_CTD_human |
Muscular Atrophy | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
Growth Disorders | 0.12 | 1 | 0 | CTD_human |
Insulin Resistance | 0.12 | 1 | 0 | CTD_human |
Liver Cirrhosis, Experimental | 0.12 | 1 | 0 | CTD_human |
Polycythemia | 0.12 | 1 | 0 | CTD_human |
Weight Gain | 0.12 | 1 | 0 | CTD_human |
Azotemia | 0.12 | 1 | 0 | CTD_human |
Short Stature, Idiopathic, Autosomal | 0.12 | 0 | 0 | CTD_human |
Osteoporosis | 0.083810118 | 7 | 0 | BeFree_LHGDN_RGD |
Diabetes Mellitus, Insulin-Dependent | 0.081085767 | 5 | 0 | BeFree_RGD |
Congenital Hypothyroidism | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Experimental | 0.08 | 2 | 0 | RGD |
Osteophyte | 0.08 | 1 | 0 | RGD |
Pituitary Diseases | 0.038001862 | 140 | 1 | BeFree |
Dwarfism | 0.03338735 | 123 | 0 | BeFree |
Adenoma | 0.021639405 | 72 | 1 | BeFree_GAD |
Pituitary dwarfism | 0.015667684 | 50 | 0 | BeFree_GAD |
Pituitary Adenoma | 0.015472187 | 57 | 0 | BeFree |
Malignant neoplasm of breast | 0.01408264 | 18 | 0 | BeFree_GAD |
Laron Syndrome | 0.013853467 | 42 | 0 | BeFree_LHGDN |
Isolated somatotropin deficiency | 0.012486326 | 46 | 0 | BeFree |
Colorectal Cancer | 0.011368221 | 8 | 1 | BeFree_GAD |
Somatotropin deficiency | 0.008143256 | 30 | 0 | BeFree |
Mammary Neoplasms | 0.006263026 | 5 | 0 | BeFree_LHGDN |
Failure to Thrive | 0.006243163 | 23 | 0 | BeFree |
Growth failure | 0.006243163 | 23 | 0 | BeFree |
Hypertensive disease | 0.005720142 | 2 | 0 | BeFree_LHGDN |
Prader-Willi Syndrome | 0.005700279 | 21 | 0 | BeFree |
Diabetes Mellitus | 0.005438769 | 11 | 4 | BeFree_LHGDN |
Noonan Syndrome | 0.005438769 | 11 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
Breast Carcinoma | 0.005157396 | 19 | 0 | BeFree |
Cushing Syndrome | 0.003267234 | 3 | 0 | BeFree_LHGDN |
HIV Infections | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Panhypopituitarism | 0.003257302 | 12 | 0 | BeFree |
Endometriosis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Scoliosis, unspecified | 0.002909916 | 3 | 0 | BeFree_GAD |
Endometrial Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Inflammation | 0.00272435 | 1 | 0 | LHGDN |
Jaundice, Obstructive | 0.00272435 | 1 | 0 | LHGDN |
Polycystic Ovary Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Motor Neuron Disease | 0.00272435 | 1 | 0 | LHGDN |
Hyperandrogenism | 0.00272435 | 1 | 0 | LHGDN |
Erectile dysfunction | 0.00272435 | 1 | 0 | LHGDN |
Mental Retardation, X-Linked | 0.00272435 | 1 | 0 | LHGDN |
Hypoglycemia | 0.002714419 | 10 | 0 | BeFree |
Creutzfeldt-Jakob disease | 0.002714419 | 10 | 0 | BeFree |
Prolactinoma | 0.002714419 | 10 | 0 | BeFree |
Liver carcinoma | 0.002714419 | 10 | 0 | BeFree |
Adenocarcinoma | 0.002638474 | 2 | 0 | BeFree_GAD |
Colorectal Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
Schizophrenia | 0.002638474 | 1 | 0 | BeFree_GAD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002442977 | 9 | 0 | BeFree |
Colonic Polyps | 0.002367032 | 1 | 0 | GAD |
Esophageal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Esophagitis | 0.002367032 | 1 | 0 | GAD |
Hyperplasia | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Metaplasia | 0.002367032 | 1 | 0 | GAD |
Kidney Failure | 0.002367032 | 1 | 0 | GAD |
Testicular Neoplasms | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of esophagus | 0.002367032 | 1 | 0 | GAD |
Colorectal Carcinoma | 0.002171535 | 8 | 1 | BeFree |
Diabetes | 0.002171535 | 8 | 4 | BeFree |
Hypopituitarism | 0.002171535 | 8 | 0 | BeFree |
Hypothyroidism | 0.002171535 | 8 | 0 | BeFree |
Liver neoplasms | 0.001900093 | 7 | 0 | BeFree |
Hypothyroidism, Congenital, Nongoitrous, 4 | 0.001900093 | 7 | 0 | BeFree |
Secondary hypothyroidism | 0.001900093 | 7 | 0 | BeFree |
Achondroplasia | 0.001628651 | 6 | 0 | BeFree |
Gigantism | 0.001628651 | 6 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 1 | 0.001628651 | 6 | 0 | BeFree |
McCune-Albright Syndrome | 0.001628651 | 6 | 0 | BeFree |
Hypogonadotropic hypogonadism | 0.001628651 | 6 | 0 | BeFree |
Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
growth hormone treatment | 0.001628651 | 6 | 0 | BeFree |
Heart failure | 0.001357209 | 5 | 0 | BeFree |
Congestive heart failure | 0.001357209 | 5 | 0 | BeFree |
Hyperprolactinemia | 0.001357209 | 5 | 0 | BeFree |
Myocardial Infarction | 0.001357209 | 5 | 0 | BeFree |
Malnutrition | 0.001357209 | 5 | 0 | BeFree |
Tumor Progression | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of prostate | 0.001357209 | 5 | 0 | BeFree |
Carney Complex | 0.001357209 | 5 | 0 | BeFree |
Dysmorphic features | 0.001357209 | 5 | 0 | BeFree |
Prostate carcinoma | 0.001357209 | 5 | 0 | BeFree |
Insulin-Like Growth Factor I Deficiency | 0.001357209 | 5 | 0 | BeFree |
Crohn Disease | 0.001085767 | 4 | 0 | BeFree |
Osteogenesis Imperfecta | 0.001085767 | 4 | 0 | BeFree |
Impaired glucose tolerance | 0.001085767 | 4 | 0 | BeFree |
Pituitary hypoplasia | 0.001085767 | 4 | 0 | BeFree |
Mammary Carcinoma, Human | 0.001085767 | 4 | 0 | BeFree |
X-Linked Combined Immunodeficiency Diseases | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Adrenal Gland Hyperfunction | 0.000814326 | 3 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.000814326 | 3 | 0 | BeFree |
Cooley's anemia | 0.000814326 | 3 | 0 | BeFree |
Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Atherosclerosis | 0.000814326 | 3 | 0 | BeFree |
Diabetic Nephropathy | 0.000814326 | 3 | 0 | BeFree |
Empty Sella Syndrome | 0.000814326 | 3 | 0 | BeFree |
Hyperphagia | 0.000814326 | 3 | 0 | BeFree |
Kidney Failure, Chronic | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
Precocious Puberty | 0.000814326 | 3 | 0 | BeFree |
Prion Diseases | 0.000814326 | 3 | 0 | BeFree |
Russell-Silver syndrome | 0.000814326 | 3 | 0 | BeFree |
Glomerulosclerosis (disorder) | 0.000814326 | 3 | 0 | BeFree |
Islet Cell Tumor | 0.000814326 | 3 | 0 | BeFree |
Prolactin Deficiency, Isolated | 0.000814326 | 3 | 0 | BeFree |
Adrenocorticotropic hormone (ACTH) deficiency (disorder) | 0.000814326 | 3 | 0 | BeFree |
Hypochondroplasia (disorder) | 0.000814326 | 3 | 0 | BeFree |
Endometrial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Metabolic Syndrome X | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
Floating-harbor syndrome | 0.000814326 | 3 | 0 | BeFree |
Well Differentiated Pancreatic Endocrine Tumor | 0.000814326 | 3 | 0 | BeFree |
Mammary Tumorigenesis | 0.000814326 | 3 | 0 | BeFree |
Iatrogenic Creutzfeldt-Jakob disease | 0.000814326 | 3 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Ataxia Telangiectasia | 0.000542884 | 2 | 0 | BeFree |
Cachexia | 0.000542884 | 2 | 0 | BeFree |
Colitis | 0.000542884 | 2 | 0 | BeFree |
Endocrine System Diseases | 0.000542884 | 2 | 0 | BeFree |
Sensorineural Hearing Loss (disorder) | 0.000542884 | 2 | 0 | BeFree |
Hyperglycemia | 0.000542884 | 2 | 0 | BeFree |
Hypogonadism | 0.000542884 | 2 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.000542884 | 2 | 0 | BeFree |
Klinefelter Syndrome | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Muscular Dystrophy | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Neurofibromatosis 1 | 0.000542884 | 2 | 0 | BeFree |
Obesity, Morbid | 0.000542884 | 2 | 0 | BeFree |
Progeria | 0.000542884 | 2 | 0 | BeFree |
Short Bowel Syndrome | 0.000542884 | 2 | 0 | BeFree |
Cerebrovascular accident | 0.000542884 | 2 | 0 | BeFree |
Thalassemia | 0.000542884 | 2 | 0 | BeFree |
Thyroid Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Thyroid Gland Follicular Adenoma | 0.000542884 | 2 | 0 | BeFree |
X-linked agammaglobulinemia | 0.000542884 | 2 | 0 | BeFree |
Pycnodysostosis | 0.000542884 | 2 | 0 | BeFree |
Septo-Optic Dysplasia | 0.000542884 | 2 | 0 | BeFree |
Chronic Kidney Insufficiency | 0.000542884 | 2 | 0 | BeFree |
Developmental delay (disorder) | 0.000542884 | 2 | 0 | BeFree |
Congenital neurologic anomalies | 0.000542884 | 2 | 0 | BeFree |
Chronic active hepatitis | 0.000542884 | 2 | 0 | BeFree |
Fluid overload | 0.000542884 | 2 | 0 | BeFree |
Congenital scoliosis | 0.000542884 | 2 | 0 | BeFree |
Acquired scoliosis | 0.000542884 | 2 | 0 | BeFree |
Hypophosphatemic Rickets, X-Linked Dominant | 0.000542884 | 2 | 0 | BeFree |
Hypothalamic Dysfunction Syndromes | 0.000542884 | 2 | 0 | BeFree |
Smith-Magenis syndrome | 0.000542884 | 2 | 0 | BeFree |
Pituitary Dwarfism Type 3 | 0.000542884 | 2 | 0 | BeFree |
PITUITARY ADENOMA PREDISPOSITION (disorder) | 0.000542884 | 2 | 0 | BeFree |
Steatohepatitis | 0.000542884 | 2 | 0 | BeFree |
Pseudohypoparathyroidism, Type Ia | 0.000542884 | 2 | 0 | BeFree |
Vitamin D-Resistant Rickets, X-Linked | 0.000542884 | 2 | 0 | BeFree |
Rickets, X-Linked Hypophosphatemic | 0.000542884 | 2 | 0 | BeFree |
Abdominal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis, Age-Related | 0.000271442 | 1 | 0 | BeFree |
Amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Arthritis, Adjuvant-Induced | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Bacterial Infections | 0.000271442 | 1 | 0 | BeFree |
Bartter Disease | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of cartilage | 0.000271442 | 1 | 0 | BeFree |
Diabetic Retinopathy | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Eating Disorders | 0.000271442 | 1 | 0 | BeFree |
Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
Ventricular Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Hemophilia A | 0.000271442 | 1 | 0 | BeFree |
Hodgkin Disease | 0.000271442 | 1 | 0 | BeFree |
Huntington Disease | 0.000271442 | 1 | 0 | BeFree |
Hydatidiform Mole | 0.000271442 | 1 | 0 | BeFree |
Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
Hyperlipidemia | 0.000271442 | 1 | 0 | BeFree |
Hypernatremia | 0.000271442 | 1 | 0 | BeFree |
Ileitis | 0.000271442 | 1 | 0 | BeFree |
insulinoma | 0.000271442 | 1 | 0 | BeFree |
Keratoconjunctivitis | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Malabsorption Syndrome | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Muscle Rigidity | 0.000271442 | 1 | 0 | BeFree |
Myotonic Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Nevus | 0.000271442 | 1 | 0 | BeFree |
Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Pseudohypoaldosteronism | 0.000271442 | 1 | 0 | BeFree |
Pseudohypoparathyroidism | 0.000271442 | 1 | 0 | BeFree |
Pseudopseudohypoparathyroidism | 0.000271442 | 1 | 0 | BeFree |
Psoriasis | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Seminoma | 0.000271442 | 1 | 0 | BeFree |
Sleep Apnea Syndromes | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Gestational Diabetes | 0.000271442 | 1 | 0 | BeFree |
Rous Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Slipped Capital Femoral Epiphyses | 0.000271442 | 1 | 0 | BeFree |
Primary ulcer of intestine | 0.000271442 | 1 | 0 | BeFree |
Complete trisomy 18 syndrome | 0.000271442 | 1 | 0 | BeFree |
Secondary hypertension | 0.000271442 | 1 | 0 | BeFree |
Germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
Fatal Familial Insomnia | 0.000271442 | 1 | 0 | BeFree |
Cartilage-hair hypoplasia | 0.000271442 | 1 | 0 | BeFree |
Extrapyramidal sign | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Fibrous Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Ventricular dilatation (disorder) | 0.000271442 | 1 | 0 | BeFree |
Congenital hypoplasia of breast | 0.000271442 | 1 | 0 | BeFree |
Polymicrogyria | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Acute Necrotizing | 0.000271442 | 1 | 0 | BeFree |
Reifenstein Syndrome | 0.000271442 | 1 | 0 | BeFree |
Lymphocytic hypopituitarism | 0.000271442 | 1 | 0 | BeFree |
Central hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Obesity, Abdominal | 0.000271442 | 1 | 0 | BeFree |
Compensated hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Tumor-induced hypoglycemia | 0.000271442 | 1 | 0 | BeFree |
Ischemic cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
Gigantism and acromegaly | 0.000271442 | 1 | 0 | BeFree |
Adrenal cortical hypofunction | 0.000271442 | 1 | 0 | BeFree |
Idiopathic osteoarthritis | 0.000271442 | 1 | 0 | BeFree |
Congenital Myotonic Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Rigor - Temperature-associated observation | 0.000271442 | 1 | 0 | BeFree |
Langer Mesomelic Dysplasia Syndrome | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
Blast cell proliferation | 0.000271442 | 1 | 0 | BeFree |
Hemophilia, NOS | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Microalbuminuria | 0.000271442 | 1 | 0 | BeFree |
Bilateral renal artery stenosis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular morbidity | 0.000271442 | 1 | 0 | BeFree |
Generalized osteoarthritis | 0.000271442 | 1 | 0 | BeFree |
Benign melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Chronic Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Mammographic Density | 0.000271442 | 1 | 0 | BeFree |
Pygmy (disorder) | 0.000271442 | 1 | 0 | BeFree |
Creutzfeldt-Jakob Disease, Sporadic | 0.000271442 | 1 | 4 | BeFree |
Poikiloderma with Neutropenia | 0.000271442 | 1 | 0 | BeFree |
Potassium depletion | 0.000271442 | 1 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000271442 | 1 | 0 | BeFree |
Pediatric Obesity | 0.000271442 | 1 | 0 | BeFree |
HYDATIDIFORM MOLE, RECURRENT, 1 | 0.000271442 | 1 | 0 | BeFree |
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